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Accelerating Science to Improve Early Autism Screening

April 23, 2024 • Feature Story • 75th Anniversary

At a Glance

• Autism is a neurodevelopmental disorder that affects how people interact, communicate, and learn.
• Making early autism screening part of routine health care helps connect families to support and services as early as possible.
• Despite American Academy of Pediatrics guidelines, only a small fraction of pediatricians reported screening for autism at well-child visits.
• NIMH-supported efforts to close the gap between science and practice have yielded key insights into effective strategies for expanding early autism screening.
• Researchers are identifying new tools for detection, new models for delivering services, and new strategies for embedding early autism screening and rapid referral into routine health care.

As many parents of young children know all too well, visits to the pediatrician typically involve answering a series of questions. Health care providers may ask about the child’s eating and sleeping habits or about their progress toward walking, talking, and many other developmental milestones. Increasingly, they’re also asking questions that could help identify early signs of autism.

Autism is a neurodevelopmental disorder that affects how people interact, communicate, behave, and learn. It is known as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience.

Today, thanks to research focused on embedding routine screening in well-baby checkups, the early signs of autism can be identified in children as young as 12–14 months. These efforts, many supported by the National Institute of Mental Health (NIMH), show that making early autism screening part of routine health care can have a significant impact on children and families, helping connect them to support and services as early as possible.

“This progress wasn’t inevitable or linear,” explains Lisa Gilotty, Ph.D., Chief of the Research Program on Autism Spectrum Disorders in the Division of Translational Research at NIMH. “Rather, it’s part of an evolving story that reflects the persistent, collective efforts of researchers and clinicians working to translate science into practice.”

Identifying the disconnect

The modern concept of autism as a neurodevelopmental disorder first emerged in the 1940s and coalesced into a diagnostic label by the 1980s. Diagnostic criteria evolved over time and, by the early 2000s, clinicians had evidence-based tools they could use to identify children with autism as early as 36 months. At the same time, evidence suggested that parents may notice signs even earlier, in the child’s second year of life.

“Reducing this gap—between observable signs and later identification and diagnosis—became an urgent target for researchers in the field,” said Dr. Gilotty. “The research clearly showed that kids who were identified early also had earlier access to supports and services, leading to better health and well-being over the long term.”

Researcher Diana Robins, Ph.D.   , then a doctoral student, wondered whether an evidence-based early screening tool might help close the gap. With support from NIMH  , Robins and colleagues developed the Modified Autism Checklist for Toddlers (M-CHAT)   , which they introduced in 2001. They aimed to provide pediatricians with a simple screening measure that could identify children showing signs of autism as early as 24 months.

The science behind early screening continued to build and gain momentum over the next few years. By the mid-2000s, researchers were exploring the possibility of using various developmental screening tools—such as the Communication and Symbolic Behavior Scales, First Year Inventory, and Ages & Stages Questionnaires—to identify early signs of autism.

The growing body of evidence did not go unnoticed. In 2006, the American Academy of Pediatrics (AAP) issued evidence-based guidelines recommending autism-specific screening   for all children at the 18-month visit. In a later update, they recommended adding another autism-specific screening at the 24-month visit, recognizing that some children may start showing signs a bit later in development.

To the research community, these new guidelines signified a huge step forward for science-based practice. But this sense of progress was soon dashed by reality.

When researchers actually surveyed health care providers, they found that very few knew about or followed the AAP guidelines. For example, in a 2006 study   , 82% of pediatricians reported screening for general developmental delays, but only 8% reported screening for autism. Most of the pediatricians said they weren’t familiar with autism-specific screening tools, and many also cited a lack of time as a significant barrier to screening.

The disconnect between science and practice prompted concern in the research community. A series of conversations in scientific meetings and workshops led to a crystallizing moment for the staff at NIMH.

“There was a period of several years in which researchers would go off and do unfunded work and then bring it back to these meetings and say, ‘This is what I've been working on,’” said Dr. Gilotty. “It was an impetus for those of us at NIMH to say, ‘We’re going to do something about this.’”

Bridging the gap

Gilotty worked with colleagues Beverly Pringle, Ph.D., and Denise Juliano-Bult, M.S.W., who were part of NIMH’s Division of Services and Intervention Research (DSIR) at the time, to synthesize several file drawers’ worth of different measures, meeting notes, and research papers and distill them into an NIMH funding announcement.

The announcement, issued in 2013, focused on funding for autism services research in three critical age groups: toddlers  , transition-age youth  , and adults  . NIMH ultimately funded five 5-year research projects that specifically examined screening and services in toddlers. The projects focused on interventions that emphasized early screening and connected children to further evaluation and services within the first two years of life.

In 2014, Denise Pintello, Ph.D., M.S.W., assumed the role of Chief of the Child and Adolescent Research Program in DSIR. She directed the research portfolio that included these projects, which sparked an idea:

“It was such an exciting opportunity to connect these researchers because the projects were all funded together as a cluster,” she said. “I thought, ‘Let’s encourage these exceptional researchers to work closely together.’”

At NIMH’s invitation, the researchers on the projects united to form the ASD Pediatric, Early Detection, Engagement, and Services (ASD PEDS) Research Network. Although the ASD PEDS researchers were using different research approaches in a range of settings, coming together as a network allowed them to share knowledge and resources, analyze data across research sites, and publish their findings together   . The researchers also worked together to identify ways that their data could help address noticeable gaps in the evidence base.

Building on the evidence

Together, the ASD PEDS studies have screened more than 109,000 children, yielding critical insights into the most effective strategies for expanding early autism screening.

For example, an ASD PEDS study   led by Karen Pierce, Ph.D.   , showed the effectiveness of integrating screening, evaluation, and treatment (SET) in an approach called the Get SET Early model.

Working with 203 pediatricians in San Diego County, California, Pierce and colleagues devised a standardized process that the providers could use to screen toddlers for autism at their 12-, 18-, and 24-month well-child visits. The researchers also developed a digital screening platform that scored the results automatically and gave clear guidelines for deciding when to refer a child for further evaluation.

These improvements boosted the rate at which providers referred children for additional evaluation and sped up the transition from screening to evaluation and services. The study also showed that autism can be identified in children as young as 12–14 months old, several years earlier than the nationwide average of 4 years.

This and other studies showed that incorporating universal early screening for autism into regular health care visits was not only feasible but effective. Working closely with health care providers allowed researchers to build trust with the providers and address their concerns.

“There is this sense that if you sit down and really talk with pediatricians, you can bring them into the fold,” said Dr. Gilotty. “Once you get some key people, you get a few more and a few more, and then it becomes something that ‘everybody’ is doing.”

Meeting the need

At the same time, the ASD PEDS studies have also explored ways to reach families with young children outside of primary care settings. Numerous studies have shown that some families are much less likely to have access to early screening and evaluation, including non-English-speaking families, families with low household incomes, and families from certain racial and ethnic minority groups.

“Screening is most effective when everyone who needs it has access to it,” said Dr. Pintello. “Addressing these disparities is a critical issue in the field and NIMH’s efforts have prioritized focusing on underserved families.”

One way to accomplish this is to integrate standardized universal screening into systems that are already serving these families. For example, in one study , ASD PEDS investigators Alice Carter, Ph.D.   , and Radley Christopher Sheldrick, Ph.D.   , worked with the Massachusetts Department of Public Health to implement an evidence-based screening procedure at three federally funded early intervention sites.

The researchers developed a multi-part screening and diagnosis process that included both clinicians and caregivers as key decision-makers. They hypothesized that this standardized process would minimize procedural variations across the early intervention sites and help to reduce existing disparities in ASD screening and diagnosis.

The results suggested their hunch was correct. All three study sites showed an increase in the rate of autism diagnosis with the new procedure in place, compared with other intervention sites that served similar communities. Importantly, the standardized procedure seemed to address existing disparities in screening and diagnosis. The increased rate of diagnosis observed among Spanish-speaking families was more than double the increase observed among non-Spanish-speaking families.

Looking to the future

Researchers are continuing to explore the best ways to put existing evidence-based screening methods into practice. At the same time, NIMH is also focused on research that seeks to develop new and improved screening tools. Evidence from neuroimaging and eye tracking studies suggests that, although the age at which observable features of autism emerge does vary, subtle signs can be detected in the first year of life. NIMH is supporting a suite of projects that aim to validate screening tools that can be used to identify signs of autism before a child’s first birthday.

“In other words, are there measures we can use to identify signs even before parents and clinicians begin to notice them?” explained Dr. Gilotty. “This is the critical question because the earlier kids are identified, the earlier they can be connected with support.”

These projects leverage sophisticated digital tools to detect subtle patterns in infant behavior. For example, researchers are using technology to identify patterns in what infants look at, the vocalizations they make, and how they move. They’re using technology to examine synchrony in infant–caregiver interactions. And they’re developing digital screening tools that can be administered via telehealth platforms.

The hope is that new tools identified and validated in this first stage will go on to be tested in large-scale, real-world contexts, reflecting a continuous pipeline of research that goes from science to practice.

“As a result of targeted research funded by NIMH over the last 10 years, we are seeing new tools for detection, new models for delivering services, and new strategies for embedding early screening and rapid referral into routine health care,” said Dr. Pintello.

“I feel like it’s just the beginning of the story—we are just now seeing the impact of bringing science-based tools and practices into the hands of health care providers. Over the next few years, we hope that ongoing efforts to bridge science and practice will help us meet the unique needs of children at the exact time that they need services.”

Publications

Broder Fingert, S., Carter, A., Pierce, K., Stone, W. L., Wetherby, A., Scheldrick, C., Smith, C., Bacon, E., James, S. N., Ibañez, L., & Feinberg, E. (2019). Implementing systems-based innovations to improve access to early screening, diagnosis, and treatment services for children with autism spectrum disorder: An Autism Spectrum Disorder Pediatric, Early Detection, Engagement, and Services network study. Autism , 23 (3), 653–664. https://doi.org/10.1177/1362361318766238  

DosReis, S., Weiner, C., Johnson, L., & Newschaffer, C. (2006). Autism spectrum disorder screening and management practices among general pediatric providers. Journal of Developmental and Behavioral Pediatrics , 27 (2), S88–S94. https://doi.org/10.1097/00004703-200604002-00006  

Eisenhower, A., Martinez Pedraza, F., Sheldrick, R. C., Frenette, E., Hoch, N., Brunt, S., & Carter, A. S. (2021). Multi-stage screening in early intervention: A critical strategy for improving ASD identification and addressing disparities. Journal of Autism and Developmental Disorders, 51 , 868–883. https://doi.org/10.1007/s10803-020-04429-z  

Feinberg, E., Augustyn, M., Broder-Fingert, S., Bennett, A., Weitzman, C., Kuhn, J., Hickey, E., Chu, A., Levinson, J., Sandler Eilenberg, J., Silverstein, M., Cabral, H. J., Patts, G., Diaz-Linhart, Y., Fernandez-Pastrana, I., Rosenberg, J., Miller, J. S., Guevara, J. P., Fenick, A. M., & Blum, N. J. (2021). Effect of family navigation on diagnostic ascertainment among children at risk for autism: A randomized clinical trial from DBPNet. JAMA Pediatrics , 175 (3), 243–250. https://doi.org/10.1001/jamapediatrics.2020.5218  

Pierce, K., Gazestani, V., Bacon, E., Courchesne, E., Cheng, A., Barnes, C. C., Nalabolu, S., Cha, D., Arias, S., Lopez, L., Pham, C., Gaines, K., Gyurjyan, G., Cook-Clark, T., & Karins, K. (2021). Get SET Early to identify and treatment refer autism spectrum disorder at 1 year and discover factors that influence early diagnosis. The Journal of Pediatrics, 236 , 179–188. https://doi.org/10.1016/j.jpeds.2021.04.041  

Robins, D. L., Fein, D., Barton, M. L., & Green, J. A. (2001). The Modified Checklist for Autism in Toddlers: An initial study investigating the early detection of autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders , 31 , 131–144. https://doi.org/10.1023/A:1010738829569  

Sheldrick, R. C., Carter, A. S., Eisenhower, A., Mackie, T. I., Cole, M. B., Hoch, N., Brunt, S., & Pedraza, F. M. (2022). Effectiveness of screening in early intervention settings to improve diagnosis of autism and reduce health disparities.  JAMA Pediatrics , 176 (3) ,  262–269. https://doi.org/10.1001/jamapediatrics.2021.5380  

• NIMH Health Information Page: Autism Spectrum Disorder
• NIMH Brochure: Autism Spectrum Disorder
• NIMH Statistics Information: Autism Spectrum Disorder (ASD)
• NLM MedlinePlus: Autism Spectrum Disorder 
• HHS Interagency Autism Coordinating Committee 

Autism Research in 2022

Written by staff and the SAB of the Autism Science Foundation

COVID Recovery Was Slow, But Scientific Progress Continues

After two grueling pandemic years, 2022 saw a return to quasi-normalcy in both the world at large and in the world of autism research. Although the pandemic was incredibly challenging for autism families and researchers, the pivot to telehealth led to advances in online autism diagnoses, mental health supports, and interventions that will likely benefit autistic people across the globe for years to come.

Autism scientists working in diverse areas of research made important strides this year and continued to gain valuable insights into every facet of autism. They also identified more effective ways to support people on the spectrum. Researchers developed a better understanding of the unique needs and priorities of specific groups of autistic people , better-defined links between biological mechanisms and behavior , and disparities in autism diagnosis and treatment.

This work was only possible because of families like yours: You actively participated in important research studies. You agreed to have your data shared with others. You donated. You advocated. Your U.S. tax dollars supported $100 million of NIH grants funded in 2022 . 

Autism science simply cannot progress without your continued partnership. Earlier this year, ASF launched a “ Participate in Research ” directory to match families with research studies that meet your needs and interests. Many of these studies offer compensation, and can also provide valuable information and resources to aid your family member. The goal is to use the information gleaned from research to improve the real lives of real people, both now and in the future.

Here’s a little bit of what 2022 taught us.

Early identification leads to earlier diagnosis, but diagnosis happens at all ages

• Developmental milestones are skills that most children reach at a certain age and are used by healthcare providers to track progress. This year, the CDC updated these milestones to track what 75% of children can do by certain ages, rather than 50%, causing some pushback. In addition, the CDC added new time points as well as markers that might predict an autism diagnosis. 1
• In autism, reaching developmental milestones can be delayed from months to years. Delays are often more severe and variable in those with co-occurring intellectual disability and a rare genetic variant. New research reinforced the need to focus on milestones and the importance of early intervention.: If you notice your infant is struggling with new skills, tell your healthcare provider. 2
• Language skills in infants are an important predictor of an ASD diagnosis. Recent work from the ASF-supported Baby Siblings Research Consortium (BSRC) showed that maternal education levels and early gestures are important predictors of these language skills, suggesting markers for intervention. 3
• Researchers have suggested that early behaviors that are predictive of a later diagnosis may be part of a larger “developmental cascade,” where, for example, the trajectory from laying to sitting to language may be disrupted. These are intertwined behavioral and neurobiological networks that affect how a person with autism functions. 4
• There are now multiple biomarkers under investigation. Some are better than others at not just autism diagnosis, but the response to intervention. 5 In the future, they can be used to promote earlier diagnosis and more objective measures of the effectiveness of interventions.

Key takeaways: Parents and clinicians should monitor developmental milestones early in life. Early signs are not a substitute for a diagnosis, but some supports and interventions can be provided that allow for an improvement of trajectories across the lifespan.

Parent-mediated interventions and training – they work.

• A review of 30 studies showed promising results from parent-mediated interventions, but improvements in studies are still needed. 6
• Parent-mediated interventions can be used for teaching everything from core autism symptoms to self-care like tooth brushing. 7
• Autism interventions can and should be customized to culture and race. 8,9
• Some parent-mediated interventions have been tested successfully in a hybrid format, leading the way for others to investigate their effect on parent and child outcomes. 10
• While some have suggested parents only recognize the weaknesses in their children, recent research strongly notes that parents know their child’s strengths and use those strengths to help support their family.  Educators also note these strengths in the classroom. 11,12
• Siblings play an important role in the outcome of autistic individuals, while they also experience unique challenges themselves. 13,14

Key takeaways: Parents and caregivers often feel helpless when they are concerned about their child’s development and are facing long waiting lists for services. New research shows that providing support is beneficial for both the parents and the child outcome, and elevates strengths while mitigating support challenges. Further research should continue to explore the role of sibling relationships and support.

The brain has a distinct “signature” and sensory issues are on the front line

• One type of immune cell of the brain called the microglia has been known to affect cell communication, shape, and number. Researchers have now determined when and where these cells are expressed during development, laying the foundation for research into a critical brain cell type. 17
• The greatest differences in gene expression in the brain are in sensory areas like the visual cortex. 15 This may explain the almost universal problems in sensory processing that autistic individuals experience, and why sensory problems are so common in ASD. 18
• The visual area, specifically the occipital cortex, was also enlarged at young ages, more so in kids who have siblings with a diagnosis, demonstrating that genetic heritability plays a role in brain activity involved in sensory processing in families. 19
• A new marker of sensory processing was detected: differences in the activity of a neurotransmitter called GABA. GABA commonly slows down the activity of brain cells, which is important when they are too active, indicating this neurotransmitter is critical for sensory processing. Changing the activity of GABA neurons can alleviate sensory problems in autistic individuals. 20
• In addition, changes in the thickness of different cortical regions may influence sensory responses, depending on whether there is overstimulation or understimulation. 21
• Another brain region called the amygdala may relate to anxiety in autistic people. Certain areas of the amygdala are different in size, 22 and can explain variability in anxiety. 23   There is also disruption in connectivity from the amygdala to outside regions, 24 which may also explain how anxiety interacts with autism features.
• Rather than examining one autism feature at a time, it seems that ability to make gains or show potential for change over time is correlated to differences in brain structure. Markers of change over time are also linked to genes associated with ASD. 25 Targets of intervention based on biological markers may need to focus on sensitivity to change rather than a specific number on an instrument per se.
• The use of biological tools has increased this year. These tools include induced pluripotent stem cells (IPSCs) and organoids that are based on cells from individuals with different forms of ASD. Studies have looked at different types of autism (idiopathic and genetically-based) and identified creation of new brain cells as a common biological mechanism. 26 New studies also used novel tools to improve the validity of these cell-based systems. 27
• Animal models can be used to identify mechanisms by which genes and environmental factors exert their influence over behavior. Right now, there are hundreds of animal models of ASD, but not all of them are used appropriately to understand ASD. The ability of the model to recapitulate both the biology and behavior involved in ASD is essential. 28

Key takeaways: While different brain regions are specialized in their function, they interconnect and turn on and off in synchrony. Researchers need better models of human neurobiology, including better animal models, to understand the core and associated autism features, from sensory dysfunction to GI issues. If you want to learn more about research involving the brains of people with autism, sign up for more information at Autism BrainNet .

Genetic markers start to explain phenotype.

• The presence of rare genetic variants and common variants tend to funnel people into groups defined by intellectual disability (ID) or high educational attainment. 29,30 Scientists have identified and characterized two major types of genetic variation associated with ASD. Rare genetic variants are commonly associated with lower cognitive function and profound autism, but that is not always the case. 31  Even with hundreds of thousands of samples, scientists have still not found a direct gene – outcome linkage.  However, genetics are still important.  Genetic findings can help identify specific needs leading to appropriate supports.
• Certain types of gene mutations can explain associations with features like psychosis, 32 as well as obesity and depression. 33
• Five new variants were identified that are not linked to intellectual or developmental disability (IDD), but are linked to other neuropsychiatric issues besides ASD. 31,34 Therefore, rare ASD or DD gene mutations usually lead to some sort of deleterious outcome.
• There is a significant overlap between ASD genes and genes associated with developmental disorders in general. Researchers suggest that autism specificity may be the result of when the gene is expressed. For example, in developmental disorders, genes are expressed in progenitor cells while in ASD they may be expressed in developing neurons. 35  
• Other studies have not found any ASD-specific gene, they show linkage to neurodevelopmental problems in general, and can be grouped based on what cells are affected. 35
• There are shared pathways between ASD and other neuropsychiatric disorders. 36  
• Studies have shown linkages between epilepsy, ASD and ADHD. 37

Key takeaways: Genetic markers associated with ASD are also associated with other developmental conditions like ADHD and intellectual disability, as well as comorbid conditions like obesity. Two major types of genetic markers, rare and common variations, may represent biomarkers of two different phenotypes, but there is overlap, and rare and common variants are likely mixed in most people. Genetic research is important for a better understanding of ASD and the development of individualized approaches for supports.

But genetics doesn’t tell it all.

• Parental genetics and environmental factors are intertwined on a biological level. Genes associated with depression in parents are also linked to ASD. 38
• Maternal immune infections are an established risk factor for ASD. However, the genetics of children with and without maternal immune challenges during pregnancy are different. 39
• Studies in Norway offer a unique perspective of gestational exposures by banking blood taken mid-pregnancy during usual obstetrical visits. One study has shown that certain cytokines, or markers of immune activity, are elevated during pregnancy in both boys and girls with autism, particularly in girls. It’s unclear what role these cytokines play collectively or individually, or where they came from in the first place. 40
• Where you live can affect the role of genes vs. environment, evidenced by environmental factors playing a bigger role in heritability in certain areas of Sweden and the U.K. 41
• Genetics and the environment clearly interact when it comes to the influence of an ASD diagnosis. For example, pesticide exposure exacerbated the effects of the autism CHD8 gene on rodent behavior. 42
• The role of environmental factors may depend not just on a diagnosis but on specific autism traits. 43
• Given that autism is likely part of a larger developmental disorder spectrum, regulation of toxic chemicals which are harmful to development must be expanded. 44

Key takeaways: The role of environmental factors in ASD has often been disassociated with genetics when it should be integrated into the understanding of autism’s causes, behavioral features, and interventions.

Biological sex plays a role.

• Studies replicated this year showed that females with autism have a higher burden of rare genetic mutations. In addition, research is demonstrating that females with an autism diagnosis also show a higher level of “common” variations. 29,45
• The effect of higher levels of common variation in females extends to even undiagnosed members of ASD-impacted families, demonstrating that females carrying ASD genetic variation are resilient. 45
• The two above studies implicate an important role of the female protective effect but do not explain all of the differences in diagnosis. 46
• Some scientists have wondered if biases in instruments used to inform a diagnosis play a role in the sex difference. One study used a mathematical algorithm to eliminate the difference in M:F diagnostic differences, but still, females show different behavioral profiles. This further reiterates that instruments should be used to inform, not make a diagnosis, and that autism is more than a yes or no diagnosis. 47
• Clinicians may miss an autism diagnosis in females because of camouflage. Females are also more likely to camouflage, which means they (consciously or unconsciously) pretend to fit in as a typically-developing girl. This leads to lower quality of life. 48
•  Intellectual disability plays a bigger role in autism features in girls vs. boys. 49
•  New genetic mutations involving the X chromosome were identified – and these mutations are more likely to occur in females. 35
• Sex differences in brain region size can be attributed to gene expression patterns. In other words, brain differences in males and females with ASD are due, in part, to underlying genetics. 50

Key takeaways: Females with ASD show different biological and behavioral profiles and are understudied in research and underserved in the community. Future research should aim to include more females to better understand their unique needs and provide targeted support.

It’s still not over, but families are in a better place than a year ago.

• Despite a rocky start at the height of the pandemic in 2020 and 2021, opportunities to receive autism diagnoses, mental health supports, and interventions via telehealth have been improved, and polished, and are not only acceptable to families and clinicians but are effective. 51-57
• Families and clinicians were happier with remote diagnosis and evaluation when the diagnosis was clear; in cases where there was some ambiguity, it caused frustration. 58,59
• While many families and individuals experienced a mental health decline during the pandemic, some exhibited resiliency under social distancing guidelines. 60 The differences could be due to the degree to which services were lost, coping styles, and pre-existing mental health attributes. 61

Key takeaways: Autism families suffered during the pandemic, but it also allowed for new approaches to be developed that may ultimately improve practice – including hybrid clinical services, holistic family support, and more comprehensive diagnostic practices.

It’s not all about the asd.

• Individuals with ASD experience higher levels of anxiety, GI issues, epilepsy, and other developmental disorders like ADHD compared to those without a diagnosis.
• While not a core autism symptom, anxiety is linked to insistence on sameness in toddlers with ASD, which indicates a similar underlying mechanism. 62
• Gastrointestinal issues plague people with autism, and there are few options for treatment. The gastrointestinal microbiome has been a target for intervention for autism symptoms, although studies are still ongoing. 63 GI issues were the focus of a major NIH-funded meeting this year .
• Suicide risk is higher in ASD. 64
• Sleep problems, while mostly studied in children, are now shown to follow kids into adolescence and adulthood. 65
• There is a high degree of overlap in the brain activity profiles between ADHD and ASD kids. Differences are mostly seen when symptom severity is accounted for. ADHD and ASD show more similarities in the brain than differences. 66
• Behavioral profiles between ADHD and ASD are also similar. 67
• Mental health concerns are present in adolescents and adults with ASD with cognitive inflexibility strongly linked to compromised mental health. 68,69 Cognitive inflexibility, which is different than cognitive ability, is how someone shifts their attention from one thing to another based on what is going on around them. This may be a focus for future mental health interventions.
• Unfortunately there are no strong individual-level predictors in childhood of mental health issues in adults, but some factors that may lead to better mental health are better living skills and higher IQ. 70

Key takeaways: Outside the core features of autism listed in the DSM5, individuals experience a wide range of associated features, ranging from psychiatric issues to medical comorbidities. For many individuals, these associated features are highly debilitating.

Biases in underserved communities are getting more attention.

• A recent analysis showed a reduction of the disparities in the age of ASD diagnosis for Black and Hispanic children over the last four years, but a difference still exists. 71
• This is likely due to provider bias, but not necessarily diagnostic instrument biases. The standard diagnostic tools are not biased toward race or sex. 72
•  Lessons learned from the pandemic reiterate the need for intense community engagement, flexibility, and an understanding that a holistic approach – rather than one focused on ASD – is necessary for working with underserved communities 73,74 .
• A culturally-adapted parent training program delivered by Black providers was effective in the Black community and could be a model for future engagement efforts. 8
• Only 25% of intervention studies report the ethnic and racial makeup of their participants, 75 indicating that researchers need to do a better job of deliberately including racial and ethnic minorities, recruiting them as research leads and coordinators, and including them on boards for scientific review. 76
• Low socioeconomic status contributes to social and communication deficits in young children with ASD. 77

Key takeaways: Racial and ethnic biases are still pervasive in autism research and diagnosis, and we need a holistic approach to support families in all aspects of their lives beyond just autism symptoms. Scientists must continue to focus on the deliberate inclusion of these groups in both research and career training to better serve all individuals with autism.

On a final note, there has been a lot of debate this year about the language used to describe autism. 78-81 There is a diversity of experiences with autism and likely to be a diversity of perspectives. Families and scientists should use scientifically accurate terms to best describe the wide range of autistic people and their symptoms. 82   What that is may differ from person to person, and situation to situation, which means context and preference need to be considered as well.

1.         Zubler JM, Wiggins LD, Macias MM, et al. Evidence-Informed Milestones for Developmental Surveillance Tools. Pediatrics 2022; 149 (3).

2.         Kuo SS, van der Merwe C, Fu JM, et al. Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis. JAMA Pediatr 2022; 176 (9): 915-23.

3.         Pecukonis M, Young GS, Brian J, et al. Early predictors of language skills at 3 years of age vary based on diagnostic outcome: A baby siblings research consortium study. Autism Res 2022; 15 (7): 1324-35.

4.         Bradshaw J, Schwichtenberg AJ, Iverson JM. Capturing the complexity of autism: Applying a developmental cascades framework. Child Dev Perspect 2022; 16 (1): 18-26.

5.         Webb SJ, Naples AJ, Levin AR, et al. The Autism Biomarkers Consortium for Clinical Trials: Initial Evaluation of a Battery of Candidate EEG Biomarkers. Am J Psychiatry 2022: appiajp21050485.

6.         Conrad CE, Rimestad ML, Rohde JF, et al. Parent-Mediated Interventions for Children and Adolescents With Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. Front Psychiatry 2021; 12 : 773604.

7.         Fenning RM, Butter EM, Macklin EA, et al. Parent Training for Dental Care in Underserved Children With Autism: A Randomized Controlled Trial. Pediatrics 2022; 149 (5).

8.         Kaiser K, Villalobos ME, Locke J, Iruka IU, Proctor C, Boyd B. A culturally grounded autism parent training program with Black parents. Autism 2022; 26 (3): 716-26.

9.         Rivera-Figueroa K, Marfo NYA, Eigsti IM. Parental Perceptions of Autism Spectrum Disorder in Latinx and Black Sociocultural Contexts: A Systematic Review. Am J Intellect Dev Disabil 2022; 127 (1): 42-63.

10.       Brian J, Solish A, Dowds E, et al. “Going Mobile”-increasing the reach of parent-mediated intervention for toddlers with ASD via group-based and virtual delivery. J Autism Dev Disord 2022; 52 (12): 5207-20.

11.       Mirenda P, Zaidman-Zait A, Cost KT, et al. Educators Describe the “Best Things” About Students with Autism at School. J Autism Dev Disord 2022.

12.       Wilkinson E, Vo LTV, London Z, Wilson S, Bal VH. Parent-Reported Strengths and Positive Qualities of Adolescents and Adults with Autism Spectrum Disorder and/or Intellectual Disability. J Autism Dev Disord 2022; 52 (12): 5471-82.

13.       Rosen NE, Schiltz HK, Lord C. Sibling Influences on Trajectories of Maladaptive Behaviors in Autism. J Clin Med 2022; 11 (18).

14.       Mokoena N, Kern A. Experiences of siblings to children with autism spectrum disorder. Front Psychiatry 2022; 13 : 959117.

15.       Gandal MJ, Haney JR, Wamsley B, et al. Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD. Nature 2022; 611 (7936): 532-9.

16.       Chen Y, Dai J, Tang L, et al. Neuroimmune transcriptome changes in patient brains of psychiatric and neurological disorders. Mol Psychiatry 2022.

17.       Menassa DA, Muntslag TAO, Martin-Estebane M, et al. The spatiotemporal dynamics of microglia across the human lifespan. Dev Cell 2022; 57 (17): 2127-39 e6.

18.       Wiggins LD, Tian LH, Rubenstein E, et al. Features that best define the heterogeneity and homogeneity of autism in preschool-age children: A multisite case-control analysis replicated across two independent samples. Autism Res 2022; 15 (3): 539-50.

19.       Girault JB, Donovan K, Hawks Z, et al. Infant Visual Brain Development and Inherited Genetic Liability in Autism. Am J Psychiatry 2022; 179 (8): 573-85.

20.       Huang Q, Pereira AC, Velthuis H, et al. GABA(B) receptor modulation of visual sensory processing in adults with and without autism spectrum disorder. Sci Transl Med 2022; 14 (626): eabg7859.

21.       Habata K, Cheong Y, Kamiya T, et al. Relationship between sensory characteristics and cortical thickness/volume in autism spectrum disorders. Transl Psychiatry 2021; 11 (1): 616.

22.       Seguin D, Pac S, Wang J, et al. Amygdala subnuclei volumes and anxiety behaviors in children and adolescents with autism spectrum disorder, attention deficit hyperactivity disorder, and obsessive-compulsive disorder. Hum Brain Mapp 2022; 43 (16): 4805-16.

23.       Andrews DS, Aksman L, Kerns CM, et al. Association of Amygdala Development With Different Forms of Anxiety in Autism Spectrum Disorder. Biol Psychiatry 2022; 91 (11): 977-87.

24.       Lee JK, Andrews DS, Ozturk A, et al. Altered Development of Amygdala-Connected Brain Regions in Males and Females with Autism. J Neurosci 2022; 42 (31): 6145-55.

25.       Pretzsch CM, Schafer T, Lombardo MV, et al. Neurobiological Correlates of Change in Adaptive Behavior in Autism. Am J Psychiatry 2022; 179 (5): 336-49.

26.       Connacher R, Williams M, Prem S, et al. Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses. Stem Cell Reports 2022; 17 (6): 1380-94.

27.       Revah O, Gore F, Kelley KW, et al. Maturation and circuit integration of transplanted human cortical organoids. Nature 2022; 610 (7931): 319-26.

28.       Silverman JL, Thurm A, Ethridge SB, et al. Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future. Genes Brain Behav 2022; 21 (5): e12803.

29.       Antaki D, Guevara J, Maihofer AX, et al. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nature Genetics 2022; 54 (9): 1284-92.

30.       Warrier V, Zhang X, Reed P, et al. Genetic correlates of phenotypic heterogeneity in autism. Nature Genetics 2022; 54 (9): 1293-304.

31.       Zhou A, Cao X, Mahaganapathy V, et al. Common genetic risk factors in ASD and ADHD co-occurring families. Hum Genet 2022.

32.       Brownstein CA, Douard E, Mollon J, et al. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry 2022; 179 (11): 853-61.

33.       Birnbaum R, Mahjani B, Loos RJF, Sharp AJ. Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank. JAMA Psychiatry 2022; 79 (3): 250-9.

34.       Shimelis H, Oetjens MT, Walsh LK, et al. Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population. American Journal of Psychiatry 2022: appi.ajp.22010062.

35.       Wang T, Kim CN, Bakken TE, et al. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. Proc Natl Acad Sci U S A 2022; 119 (46): e2203491119.

36.       Murtaza N, Cheng AA, Brown CO, et al. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Cell Rep 2022; 41 (8): 111678.

37.       Carson L, Parlatini V, Safa T, et al. The association between early childhood onset epilepsy and attention-deficit hyperactivity disorder (ADHD) in 3237 children and adolescents with Autism Spectrum Disorder (ASD): a historical longitudinal cohort data linkage study. Eur Child Adolesc Psychiatry 2022.

38.       Havdahl A, Wootton RE, Leppert B, et al. Associations Between Pregnancy-Related Predisposing Factors for Offspring Neurodevelopmental Conditions and Parental Genetic Liability to Attention-Deficit/Hyperactivity Disorder, Autism, and Schizophrenia: The Norwegian Mother, Father and Child Cohort Study (MoBa). JAMA Psychiatry 2022; 79 (8): 799-810.

39.       Nudel R, Thompson WK, Borglum AD, et al. Maternal pregnancy-related infections and autism spectrum disorder-the genetic perspective. Transl Psychiatry 2022; 12 (1): 334.

40.       Che X, Hornig M, Bresnahan M, et al. Maternal mid-gestational and child cord blood immune signatures are strongly associated with offspring risk of ASD. Mol Psychiatry 2022; 27 (3): 1527-41.

41.       Reed ZE, Larsson H, Haworth CMA, et al. Mapping the genetic and environmental aetiology of autistic traits in Sweden and the United Kingdom. JCPP Adv 2021; 1 (3): e12039.

42.       Jimenez JA, Simon JM, Hu W, et al. Developmental pyrethroid exposure and age influence phenotypes in a Chd8 haploinsufficient autism mouse model. Sci Rep 2022; 12 (1): 5555.

43.       Isaksson J, Ruchkin V, Aho N, Lundin Remnelius K, Marschik PB, Bolte S. Nonshared environmental factors in the aetiology of autism and other neurodevelopmental conditions: a monozygotic co-twin control study. Mol Autism 2022; 13 (1): 8.

44.       Volk HE, Ames JL, Chen A, et al. Considering Toxic Chemicals in the Etiology of Autism. Pediatrics 2022; 149 (1).

45.       Wigdor EM, Weiner DJ, Grove J, et al. The female protective effect against autism spectrum disorder. Cell Genomics 2022; 2 (6): 100134.

46.       Dougherty JD, Marrus N, Maloney SE, et al. Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder? Neuron 2022; 110 (20): 3243-62.

47.       Burrows CA, Grzadzinski RL, Donovan K, et al. A Data-Driven Approach in an Unbiased Sample Reveals Equivalent Sex Ratio of Autism Spectrum Disorder-Associated Impairment in Early Childhood. Biol Psychiatry 2022; 92 (8): 654-62.

48.       Ross A, Grove R, McAloon J. The relationship between camouflaging and mental health in autistic children and adolescents. Autism Res 2022.

49.       Saure E, Castren M, Mikkola K, Salmi J. Intellectual disabilities moderate sex/gender differences in autism spectrum disorder: a systematic review and meta-analysis. J Intellect Disabil Res 2022.

50.       Floris DL, Peng H, Warrier V, et al. The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. American Journal of Psychiatry 2022: appi.ajp.20220194.

51.       Rosen V, Blank E, Lampert E, et al. Brief Report: Telehealth Satisfaction Among Caregivers of Pediatric and Adult Psychology and Psychiatry Patients with Intellectual and Developmental Disability in the Wake of Covid-19. J Autism Dev Disord 2022; 52 (12): 5253-65.

52.       Talbott MR, Lang E, Avila F, Dufek S, Young G. Short report: Experiences of Caregivers Participating in a Telehealth Evaluation of Development for Infants (TEDI). J Autism Dev Disord 2022; 52 (12): 5266-73.

53.       Adler EJ, Schiltz HK, Glad DM, et al. Brief Report: A Pilot Study Examining the Effects of PEERS(R) for Adolescents Telehealth for Autistic Adolescents. J Autism Dev Disord 2022; 52 (12): 5491-9.

54.       Estabillo JA, Moody CT, Poulhazan SJ, Adery LH, Denluck EM, Laugeson EA. Efficacy of PEERS(R) for Adolescents via Telehealth Delivery. J Autism Dev Disord 2022; 52 (12): 5232-42.

55.       Jones E, Kurman J, Delia E, et al. Parent Satisfaction With Outpatient Telemedicine Services During the COVID-19 Pandemic: A Repeated Cross-Sectional Study. Front Pediatr 2022; 10 : 908337.

56.       Ferrante C, Sorgato P, Fioravanti M, et al. Supporting Caregivers Remotely During a Pandemic: Comparison of WHO Caregiver Skills Training Delivered Online Versus in Person in Public Health Settings in Italy. J Autism Dev Disord 2022: 1-20.

57.       McNally Keehn R, Enneking B, Ryan T, et al. Tele-assessment of young children referred for autism spectrum disorder evaluation during COVID-19: Associations among clinical characteristics and diagnostic outcome. Autism 2022: 13623613221138642.

58.       Klaiman C, White S, Richardson S, et al. Expert Clinician Certainty in Diagnosing Autism Spectrum Disorder in 16-30-Month-Olds: A Multi-site Trial Secondary Analysis. J Autism Dev Disord 2022: 1-16.

59.       Reisinger DL, Hines E, Raches C, Tang Q, James C, Keehn RM. Provider and Caregiver Satisfaction with Telehealth Evaluation of Autism Spectrum Disorder in Young Children During the COVID-19 Pandemic. J Autism Dev Disord 2022; 52 (12): 5099-113.

60.       Charalampopoulou M, Choi EJ, Korczak DJ, et al. Mental health profiles of autistic children and youth during the COVID-19 pandemic. Paediatr Child Health 2022; 27 (Suppl 1): S59-S65.

61.       Evers K, Gijbels E, Maljaars J, et al. Mental health of autistic adults during the COVID-19 pandemic: The impact of perceived stress, intolerance of uncertainty, and coping style. Autism 2022: 13623613221119749.

62.       Baribeau DA, Vigod SN, Pullenayegum E, et al. Developmental cascades between insistence on sameness behaviour and anxiety symptoms in autism spectrum disorder. Eur Child Adolesc Psychiatry 2022.

63.       Stewart Campbell A, Needham BD, Meyer CR, et al. Safety and target engagement of an oral small-molecule sequestrant in adolescents with autism spectrum disorder: an open-label phase 1b/2a trial. Nature Medicine 2022; 28 (3): 528-34.

64.       Mournet AM, Wilkinson E, Bal VH, Kleiman EM. A systematic review of predictors of suicidal thoughts and behaviors among autistic adults: Making the case for the role of social connection as a protective factor. Clin Psychol Rev 2022; 99 : 102235.

65.       Lampinen LA, Zheng S, Taylor JL, et al. Patterns of sleep disturbances and associations with depressive symptoms in autistic young adults. Autism Res 2022; 15 (11): 2126-37.

66.       Safar K, Vandewouw MM, Pang EW, et al. Shared and Distinct Patterns of Functional Connectivity to Emotional Faces in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Children. Front Psychol 2022; 13 : 826527.

67.       Schachar RJ, Dupuis A, Arnold PD, et al. Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder: Shared or Unique Neurocognitive Profiles? Res Child Adolesc Psychopathol 2022.

68.       Carter Leno V, Wright N, Pickles A, et al. Exposure to family stressful life events in autistic children: Longitudinal associations with mental health and the moderating role of cognitive flexibility. Autism 2022; 26 (7): 1656-67.

69.       Lei J, Charman T, Leigh E, Russell A, Mohamed Z, Hollocks MJ. Examining the relationship between cognitive inflexibility and internalizing and externalizing symptoms in autistic children and adolescents: A systematic review and meta-analysis. Autism Res 2022; 15 (12): 2265-95.

70.       Forbes G, Kent R, Charman T, Baird G, Pickles A, Simonoff E. How do autistic people fare in adult life and can we predict it from childhood? Autism Research 2022; n/a (n/a).

71.       Pham HH, Sandberg N, Trinkl J, Thayer J. Racial and Ethnic Differences in Rates and Age of Diagnosis of Autism Spectrum Disorder. JAMA Netw Open 2022; 5 (10): e2239604.

72.       Kalb LG, Singh V, Hong JS, et al. Analysis of Race and Sex Bias in the Autism Diagnostic Observation Schedule (ADOS-2). JAMA Netw Open 2022; 5 (4): e229498.

73.       DuBay M. Cultural Adaptations to Parent-Mediated Autism Spectrum Disorder Interventions for Latin American Families: A Scoping Review. Am J Speech Lang Pathol 2022; 31 (3): 1517-34.

74.       Vanegas SB, Duenas AD, Kunze M, Xu Y. Adapting parent-focused interventions for diverse caregivers of children with intellectual and developmental disabilities: Lessons learned during global crises. J Policy Pract Intellect Disabil 2022; na : 1-13.

75.       Steinbrenner JR, McIntyre N, Rentschler LF, et al. Patterns in reporting and participant inclusion related to race and ethnicity in autism intervention literature: Data from a large-scale systematic review of evidence-based practices. Autism 2022; 26 (8): 2026-40.

76.       Williams EG, Smith MJ, Boyd B. Perspective: The role of diversity advisory boards in autism research. Autism 2022: 13623613221133633.

77.       Reetzke R, Singh V, Hong JS, et al. Profiles and correlates of language and social communication differences among young autistic children. Front Psychol 2022; 13 : 936392.

78.       Buijsman R, Begeer S, Scheeren AM. ‘Autistic person’ or ‘person with autism’? Person-first language preference in Dutch adults with autism and parents. Autism 2022: 13623613221117914.

79.       Monk R, Whitehouse AJO, Waddington H. The use of language in autism research. Trends Neurosci 2022; 45 (11): 791-3.

80.       Bury SM, Jellett R, Haschek A, Wenzel M, Hedley D, Spoor JR. Understanding language preference: Autism knowledge, experience of stigma and autism identity. Autism 2022: 13623613221142383.

81.       Keating CT, Hickman L, Leung J, et al. Autism-related language preferences of English-speaking individuals across the globe: A mixed methods investigation. Autism Res 2022.

82.       Singer A, Lutz A, Escher J, Halladay A. A full semantic toolbox is essential for autism research and practice to thrive. Autism Res 2022.

Where are you on your autism journey?

Scientists discover how dozens of genes may contribute to autism

Using a host of high-tech tools to simulate brain development in a lab dish, Stanford University researchers have discovered several dozen genes that interfere with crucial steps in the process and may lead to autism, a spectrum of disorders that affects about one in every 36 Americans , impairing their ability to communicate and interact with others.

The results of a decade of work, the findings published in the journal Nature may one day pave the way for scientists to design treatments that allow these phases of brain development to proceed unimpaired.

The study delves into a 20-year-old theory that suggests one cause of autism may be a disruption of the delicate balance between two types of nerve cells found in the brain’s cerebral cortex, the area responsible for higher-level processes such as thought, emotion, decision-making and language.

Some nerve cells in this region of the brain excite other nerve cells, encouraging them to fire; other cells, called interneurons, do the opposite. Too much excitation can impair focus in the brain and cause epilepsy, a seizure disorder that is more common in people with autism than in the general population. Scientists therefore believe a proper balance requires more of the inhibiting interneurons.

In the developing fetus, these nerve cells start out deep in the brain in a region called the subpallium, then migrate slowly to the cerebral cortex. The process begins mid-gestation and ends in the infant’s second year of life, said Sergiu Pasca, a Stanford University professor of psychiatry and behavioral sciences who led the study.

Pasca’s team, which included researchers from the University of California at San Francisco and the Icahn School of Medicine at Mount Sinai, tested 425 genes that have been linked to neurodevelopmental disorders to determine which ones interfere with the generation and migration of interneurons. Genes linked to autism were among those identified in the study.

“What’s really cool about this paper is that autism is a collection of different behaviors, but we don’t have [an] understanding of how those behaviors are connected to differences in the brain,” said James McPartland, a professor of child psychiatry and psychology at the Yale School of Medicine, who was not involved in the study.

The new work advances research into autism by “beginning to create a fundamental understanding of the building blocks of brain development,” he said.

A new way to screen for autism genes

For ethical reasons, it is not possible to view developmental processes as they take place inside a fetal brain.

Often, scientists can instead learn the role an individual gene plays by observing what happens when that gene is knocked out of cells in a lab dish. But knocking out 425 genes one by one is time-consuming.

For their study, Pasca and his colleagues used a technique they developed six years ago that allowed them to test all 425 genes at once. They engineered the cells so that only those nerve cells that inhibit others from firing would cast a green glow. They also used the gene-editing system CRISPR to create different cells, each missing one of the 425 genes.

The scientists created clumps of cells that model the structures and functions of the brain’s subpallium and cerebral cortex. Then they placed the two different clumps beside each other in a lab dish.

“We discovered that if you put them together in close proximity, they’ll fuse immediately,” Pasca said. “And the cells know exactly what to do … and they invade the cortex exactly as they would in people.”

This was all the more remarkable because in living brains, the region of the subpallium that makes interneurons is not right next to the cerebral cortex, but is inches away, Pasca said.

Pasca and his colleagues allowed time for interneurons to form and migrate to the cerebral cortex. Then they examined the genetic profiles of the various cells. This allowed them to hunt for the genes that caused two defects: the failure to generate interneurons and the failure of interneurons to journey into the cerebral cortex.

They found 13 genes whose absence prevented interneurons from forming. They identified another 33 genes that, when missing, prevented interneurons from traveling to the cerebral cortex. All told, 46 genes — 11 percent of the 425 linked to neurodevelopmental disorders — appeared to affect the nerve cells that inhibit their neighbors, leading to an imbalance.

The scientists learned that one of the genes crucial to the migration of interneurons, LNPK, has been linked to seizure disorders. This would support the idea that seizures result from too much excitation of neurons and too little inhibition.

A new, more diverse human genome offers hope for rare genetic diseases

Using the fused clumps of cells, the researchers “performed by far the largest screen for autism and [neurodevelopmental disorder] genes,” Guo-li Ming, a professor in the departments of neuroscience and psychiatry at the University of Pennsylvania, wrote in an email commenting on the study.

Ming, who was not involved in the project, described it as a “tour-de-force” that may one day lead researchers to develop treatments for autism and other disorders — therapies based on the genetic profile of an individual patient.

The autism services cliff

Experts stressed that autism is not one disease, but a group of disorders. The neuron imbalance is only one of multiple possible causes.

Many people with autism, for example, have defects of the microglia, cells that regulate brain development, injury repair and maintenance of the networks that process information.

And genes alone cannot account for autism, said Yale’s McPartland. “It’s complicated, and it’s fascinating. You can have [autism in] identical twins and they almost always will both have autism. But not always.”

Jennifer Singh, an autism expert and associate professor in the school of history and sociology at Georgia Institute of Technology, said too much money has been poured into searching for the genetic underpinnings of autism spectrum disorder. Singh pointed to a 2018 report by a federal advisory committee, which found that 60 percent of the funding for autism research addressed the biology and risk factors, but only 2 percent dealt with “life span issues” for people living with the spectrum of disorders .

“This hyper focus and massive investment obscures the real issues people with autism and their families face,” Singh wrote in an email. She cited the “autism services cliff,” which occurs when people with autism can no longer attend public school. “Services that would be useful for autistic adults do not exist or are no longer available,” she said.

Pasca said that it’s important to study “the natural history of the disease. But we also need to understand the biological basis if we want to develop effective [treatments].”

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Autism cures may be closer as focus turns to early treatment

by Vittoria D'alessio, Horizon: The EU Research & Innovation Magazine

Fresh insights into the genes that cause the neurological disorder could open new routes for the prevention and perhaps even reversal of symptoms.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that has been intensely investigated since the mid-20th century. It's estimated that ASD affects around 1 in 100 children and mainly boys.

Studies suggest that ASD is closely linked to genetics. The basic challenge is untangling the relationships between the many genes involved and the symptoms.

Genes and symptoms

A focus on these links has the potential to enhance understanding of the condition and treatments for it.

For instance, children born with a rare genetic mutation—on a gene called BCKDK—are more likely to develop impairments that, left untreated, would likely result in lifelong autism. Symptoms can include intellectual disability, epilepsy and a condition—microcephaly—where a baby's head is smaller than expected.

The faulty gene in question disrupts the way the brain can process essential nutrients known as branched-chain amino acids and creates the conditions for delayed neurological development.

"This got us thinking: now we know what causes this neurodevelopmental disorder, can we reverse it once the brain has developed?" said Gaia Novarino, a neuroscience professor whose team discovered the BCKDK mutation and its link to autism in 2012. "Can we go back in time?"

Award winner

Novarino is a high-profile neuroscientist from Italy who has received numerous awards for her work in the field of autism research, including the Order of Merit of the Italian Republic.

"I have always been interested in genetic disorders and was struck by the general lack of understanding of pediatric, neurodevelopmental disorders," she said. "We know too little about these diseases."

Because autism shapes the developing brain long before birth, many assume it's irreversible—a lifelong condition that, at best, can be managed with psychological support paired with speech and physical therapy.

Some people prefer to forgo treatment because they don't believe autism needs to be cured, regarding it as an integral part of personality.

"Not everyone wants their ASD, or their child's ASD, to be treated," said Novarino. "If symptoms aren't profound, a person can live with the condition with minimal support and they may come to see their autism as an essential part of who they are."

In any case, more recent research has led scientists to assess whether some forms of ASD may be treatable—either fully or in part.

Novarino's team, based at the Institute of Science and Technology in Austria near Vienna, turned to mice for answers under a five-year European research project called REVERSEAUTISM that ended in September 2022.

The researchers genetically engineered mice to be unable to process essential amino acids correctly, similarly to children with the BCKDK genetic mutation.

Amino acids are protein building blocks needed for vital reactions within and between nerve cells. The body can't make amino acids itself and instead must find them from foods such as meat, fish, grains and nuts.

The team found that rodents with the mutation developed both motor and social difficulties after birth.

"These mice have behavioral issues," said Novarino. "They also move in a strange way, with coordination problems."

REVERSEAUTISM then took this research one step further to see whether, by injecting the missing amino acids directly into the brains of affected mice, their autism-like symptoms could be reversed.

"The answer was yes," said Novarino. "Not all symptoms disappeared, but there was considerable improvement in both social behavior and coordination in mice that received injections. In other words, some signs of the disorder were reversed."

Study of 21 infants

REVERSEAUTISM's findings so intrigued Dr. Angeles García-Cazorla of Spain that she decided to study whether children with a BCKDK deficiency showed symptom improvements after taking the missing amino acids as a food supplement in conjunction with a high-protein diet.

García-Cazorla is head of Metabolic Diseases Unit at the Hospital Sant Joan de Déu in Barcelona. The missing amino acids are leucine, valine and isoleucine.

The study was based on 21 patients, aged between 8 months and 16 months, recruited from centers around the world. The results were very promising.

"In general, all patients improved, in particular regarding the growth of their head, which means there was a proliferation of neurons," said García-Cazorla. "They also showed improved motor function. Infants who weren't able to walk could now walk and infants who couldn't speak developed some basic language."

Sooner the better

The earlier treatment was begun, the better the outcomes were.

"In the three children who started supplementation before the age of two, the evolution was much better and the child who started at 8 months did best—she had normal brain development, with no signs of autism, by the age of three," said García-Cazorla.

The study was carried out under an EU-initiated health alliance called the European Reference Network for Rare Hereditary Metabolic Disorders ( MetabERN ), which is led by patients and experts.

If future studies involving a larger cohort of BCKDK-deficient infants validate the results of the MetabERN investigation, García-Cazorla and Novarino hope national health policies will be changed to require all babies to be tested for BCKDK deficiency at birth.

This would form part of the newborn heel prick test, which checks up to 25 rare but serious health conditions.

"One of the challenges in the field of autism is that diagnosis is usually done quite late—rarely before the age of 3 or 4—and at that point it becomes hard to treat," said Novarino. "Our work shows that starting supplementation early can make a real difference to people's lives."

She and her team are pursuing this line of research in a European project called SecretAutism that began in December 2022 and will run through November 2027. They received EU funding to grow brain tissue in the laboratory using human stem cells.

By studying these "organoids," the researchers hope to gain further insights into what exactly the many different genes associated with autism are doing in the body, the stages at which problems develop and how to interrupt the process.

"We're approaching this from many angles, trying to understand how else we can treat patients with ASD," said Novarino. "It's very complex research, but that won't put us off."

• REVERSEAUTISM
• SecretAutism

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Brain cells, interrupted: How some genes may cause autism, epilepsy and schizophrenia

Jon Hamilton

New research probes the relationship between certain genes and brain disorders like autism and schizophrenia. Jill George / NIH hide caption

New research probes the relationship between certain genes and brain disorders like autism and schizophrenia.

A team of researchers has developed a new way to study how genes may cause autism and other neurodevelopmental disorders: by growing tiny brain-like structures in the lab and tweaking their DNA.

These "assembloids," described in the journal Nature , could one day help researchers develop targeted treatments for autism spectrum disorder, intellectual disability, schizophrenia, and epilepsy.

"This really accelerates our effort to try to understand the biology of psychiatric disorders," says Dr. Sergiu Pașca , a professor of psychiatry and behavioral sciences at Stanford University and an author of the study.

The research suggests that someday "we'll be able to predict which pathways we can target to intervene" and prevent these disorders, adds Kristen Brennand , a professor of psychiatry at Yale who was not involved in the work.

Shots - Health News

Researchers link autism to a system that insulates brain wiring.

The study comes after decades of work identifying hundreds of genes that are associated with autism and other neurodevelopmental disorders. But scientists still don't know how problems with these genes alter the brain.

"The challenge now is to figure out what they're actually doing, how disruptions in these genes are actually causing disease," Pașca says. "And that has been really difficult."

For ethical reasons, scientists can't just edit a person's genes to see what happens. They can experiment on animal brains, but lab animals like rodents don't really develop anything that looks like autism or schizophrenia.

So Pașca and a team of scientists tried a different approach, which they detailed in their new paper .

The team did a series of experiments using tiny clumps of human brain cells called brain organoids . These clumps will grow for a year or more in the lab, gradually organizing their cells much the way a developing brain would. And by exposing an organoid to certain growth factors, scientists can coax it into resembling tissue found in brain areas including the cortex and hippocampus.

"We can actually make different parts of the nervous system in a dish from stem cells ," Pașca says. When these parts are placed in the same dish, they will even form connections, much like an actual brain. The resulting structure is called an assembloid .

Pașca's team thought they could use assembloids to study how developmental disorder genes affect special brain cells called interneurons, which are thought to play a role in several psychiatric disorders.

Research News

The first wiring map of an insect's brain hints at incredible complexity.

During pregnancy and the first two years of life, these special cells must complete a remarkable journey.

"Interneurons are born in deep regions of the brain, and then they have to migrate all the way to the cortex," Pașca says. "So you can imagine that during that migration a lot of things could go awry."

Pașca's team simulated the migration of interneurons by creating assembloids containing two types of organoids. One resembled an area deep in the brain called the subpallium, where most interneurons are generated. The other organoid resembled the cerebral cortex, where interneurons are supposed to end up.

"And then we've put them together, allowing these interneurons to move towards the cerebral cortex," he says.

The process worked just the way it's supposed to in assembloids containing typical organoids. So next, the team used a gene-editing technique called CRISPR to alter the organoids.

This approach allowed the team to study the effect of more than 400 genes associated with neurodevelopmental disorders. And they found that 46 of those genes were involved in either the generation of interneurons, or with their migration. Knock out a part of those genes and interneurons no longer arrived where they were supposed to.

In the cerebral cortex, interneurons serve as inhibitory neurons, which means they act a bit like the brake in a car. The interneurons can release a neurotransmitter that tells other neurons to reduce their activity.

Meanwhile, excitatory neurons act as the accelerator, telling other cells to become more active.

Brain networks rely on a delicate balance between excitatory and inhibitory neurons. Too much acceleration and the result can be an epileptic seizure. Too much brake and vital information may get lost or delayed.

Want to understand your adolescent? Get to know their brain

The study is important because it offers a way for scientists to study the effect of many genes at the same time, and identify the ones that affect a particular type of cell or cell function during brain development, says Dr. Guo-li Ming , a professor of neuroscience at the University of Pennsylvania's Perelman School of Medicine.

The research also shows clearly how gene variants could lead to autism or some other neurodevelopmental disorder by disturbing interneurons.

"That would be a disaster" in a developing brain, Ming says. "The circuitry would be wrong and the signaling would be wrong, and ultimately the brain functioning would be wrong."

Ming, who was not connected with study, says her lab would like to use the combination of assembloids and CRISPR in their own research on schizophrenia, another psychiatric disorder with a neurodevelopmental origin.

Pașca's study could help brain scientists make the sort of advances that cancer researchers have in the past few decades, says Brennand.

"Thirty years ago, we might have thought all intestinal cancers should be treated the same way and all lung cancers should be treated the same way," she says. "Now we know a lot better."

Instead of choosing treatments according to the location of a cancer, doctors study a tumor's genes to determine which therapy is most likely to work. A similar approach could eventually help people with autism spectrum disorder, epilepsy, and schizophrenia, Brennand says.

"This improved genetic understanding will let us do better," she says, "because we'll know which pathways we can target to intervene."

• brain disorders
• autism spectrum disorder
• neurobiology
• genetic research
• schizophrenia
• neuroscience

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Autism Spectrum Disorder in 2023: A Challenge Still Open

Annio posar.

1 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOSI Disturbi dello Spettro Autistico, Bologna, Italy

2 Department of Biomedical and Neuromotor Sciences, Bologna University, Bologna, Italy

Paola Visconti

In this paper, we provide an update on autism spectrum disorder (ASD), including epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs, onset patterns, neuropsychological hypotheses, treatments, and long-term outcome. The prevalence of this condition has increased enormously over the last few decades. This increase prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases, numerous pathogenetic mechanisms have been hypothesized. Among these, we mention oxidative stress, mitochondrial dysfunction, alteration of the intestinal microbiota, immune dysregulation, and neuroinflammation. These pathogenetic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Inherent in the term spectrum is the great clinical heterogeneity of this condition, mainly due to the frequent comorbidity that characterizes it. The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. In this sense, the role of pediatricians can be decisive in making children with signs suggestive of autism undergo a specialist diagnostic course. The development of increasingly advanced cognitive-behavioral educational techniques has considerably improved the prognosis of affected individuals, even though only a small minority of them come off the autistic spectrum. Pharmacological therapies are used to treat comorbidities. During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning.

Introduction

According to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) is an early-onset, mostly lifelong condition characterized by persisting deficits in social-communication skills (including social-emotional reciprocity, nonverbal communication, and developing/maintaining relationships) and restricted, repetitive behaviors (including stereotypies, insistence on sameness, highly restricted and fixated interests, and sensory abnormalities). Symptoms are present early in development and cause significant impairments in social and occupational functioning. ASD symptoms are not better explained by intellectual disability or global developmental delay, and this is a very important concept in order to avoid confusing these conditions. However, ASD often co-occurs with intellectual disability; comorbid diagnoses of ASD and intellectual disability are possible only when social communication skills are lower than expected in relation to the general developmental level. According to DSM-5, 3 levels of severity of ASD have been established: level 1 (requiring support), level 2 (requiring substantial support), and level 3 (requiring very substantial support). 1 The choice made in the DSM-5 to cancel the subdivision into the 5 diagnostic categories established by the DSM-IV (autistic disorder, Rett’s disorder, childhood disintegrative disorder, Asperger’s disorder, and pervasive developmental disorder not otherwise specified), 2 unifying everything under the term ASD, 1 has not been without criticism, and it is hoped that it will be corrected in the next edition of the DSM. 3 Despite various attempts to find a biological marker, today, the diagnosis of ASD is still based solely on clinical criteria. 1

From a historical perspective, the first reports of children with autism have been till today attributed by most authors to Leo Kanner (1943) 4 and Hans Asperger (1944), 5 but in reality, the first to describe this condition in a scientific journal was a woman, Grunya Efimovna Sukhareva, who in 1926 reported 6 boys with autism (which today would be defined “high functioning”), providing a lot of clinical details, including sensory abnormalities, 6 , 7 which acquired their proper weight only in the DSM-5’s description of ASD. 1

As concerns ASD etiopathogenesis, while in the past the psychogenetic theories prevailed, today we know that ASD is a condition with a neurobiological basis. The etiology is multifactorial and is characterized by an interaction between genetic and environmental factors. 8

In this narrative review, we aim to provide an update about this condition, considering epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs and onset patterns, neuropsychological hypotheses, treatments, and long-term outcome.

Epidemiology and Etiopathogenesis of Autism Spectrum Disorder

According to the most recent epidemiological studies carried out in the United States, ASD recurs in 1 in 36 children at age 8, and it is about 4 times more frequent among males than females. 9 The prevalence of this condition has increased enormously over the last few decades; This increase would be to some extent apparent as there is now greater awareness of this condition, but it would be largely real. 10 This last aspect prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. 8 Indeed, early exposure, in particular during pregnancy and in the first year of extrauterine life, to air pollutants (especially particulate matter with an aerodynamic diameter ≤2.5 μm) 11 or to agricultural pesticides 12 is associated with a higher risk for ASD.

But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis of ASD are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases with ASD, numerous pathogenetic mechanisms have been hypothesized and supported by interesting data. Among these mechanisms, we mention oxidative stress, 13 , 14 mitochondrial dysfunction, 15 alteration of the gut microbiota (see the wide variety of microorganisms colonizing the human gastrointestinal tract), 16 immune dysregulation, 17 and neuroinflammation. 14 Note that these mechanisms are not mutually exclusive but could act in synergy with each other, leading to the development of ASD. 8 In reality, the true meaning of the alterations to these mechanisms has yet to be understood. Let us take the example of the gut microbiota: are the alterations found in subjects with ASD the cause of the disorder or its consequence, taking into account the food selectivity they often display and their propensity to bring inedible objects to their mouths? 18

A key to understanding how these pathogenetic mechanisms could act is given by the concept of epigenetics. Epigenetics is a crucial gene regulation system based on chemical changes in DNA and histone proteins without altering the sequence of DNA. The abovementioned pathogenic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Also, some environmental factors, including heavy metals (e.g., lead) and endocrine disrupting chemicals (e.g., pesticides), could directly or indirectly modify the epigenetic status. 19 , 20

However, the fact that, according to the most recent studies, the prevalence of ASD in males is confirmed (male-to-female ratio = 3.8) 9 suggests that, in the etiopathogenesis of the disorder, genetics still outweighs acquired factors.

We dedicate a last mention to the so-called syndromic autism. It describes the minority of individuals with ASD who present comorbid features and/or a putative genetic etiology. This concept has been deeply criticized, also because it has no single definition, and is probably destined to fall into disuse. 21 We have preferred not to use it in this review.

Heterogeneity of Autism Spectrum Disorder Clinical Presentation

Inherent in the term “spectrum” is the great clinical heterogeneity of this condition. The range of possible impairments in ASD goes from severe disability with almost complete absence of personal autonomy to a so-called high-functioning condition in which the individual can have normal or even higher-than-normal intellectual functioning and can play a role of responsibility in the social context. 3 The considerable heterogeneity of the ASD clinical picture is mainly due to the frequent comorbidity that characterizes it. Intellectual disability, attention-deficit/hyperactivity disorder (ADHD), insomnia, mood disorders, and epilepsy are just some of the possible neuropsychiatric comorbidities. Also, medical comorbidities, in particular gastroenterological ones (including celiac disease), can complicate the clinical picture of individuals with ASD. 3 , 22

Another element of clinical heterogeneity is given by the possible presence of sensory abnormalities that are very often found in subjects with ASD, especially in the first years of life, leading to a distortion of the perception of reality and representing the possible key to understanding many of their atypical behaviors (e.g., attraction to artificial lights, annoyance for crowded environments, food selectivity) and also of the so-called challenging behaviors (e.g., auto- or hetero-aggressiveness, throwing things, tantrums). 23 An impairment of multimodal integration (i.e., the ability to integrate information coming from different sensory channels: visual, auditory, somatosensory, etc.) has also been implicated. 23 In this regard, functional magnetic resonance imaging studies have highlighted elements that suggest an alteration of brain long-range connectivity in individuals with ASD, 24 which could lead precisely to an impairment of this integration capacity.

Instrumental Investigations in Individuals with Autism Spectrum Disorder

From the point of view of the etiological diagnosis, nowadays it seems essential to carry out the following investigations: hearing evaluation through behavioral audiometry or, if not possible, through an auditory brainstem response (ABR) test; genetic tests (array-based comparative genomic hybridization, or array CGH; in males, molecular search for fragile X syndrome; and in some cases, next generation sequencing); electroencephalogram possibly also during sleep, even in the absence of overt clinical seizures, in particular to rule out electroclinical conditions such as continuous spikes and waves during slow sleep (CSWS), which are potentially treatable with a drug therapy. 25 Common neuroimaging techniques, and in particular brain magnetic resonance imaging, are usually normal or at most show nonspecific findings; 26 therefore, they should be performed only in some cases, including: a clinical history characterized by marked and persisting neurocognitive deterioration; the presence of clear neurological signs (macrocrania or microcrania, cerebral palsy, dystonia, etc.); a genetic condition that notoriously predisposes to a brain malformation; epileptic seizures; an electroencephalogram showing relevant alterations such as focal paroxysmal abnormalities or asymmetries of the electrogenesis. At the conclusion of the etiological workup, genetic counseling is recommendable, even though instrumental investigations have not shown any significant results, aiming also at calculating the risk of recurrence of ASD (or other neurodevelopmental disorders) in the family.

Early Signs and Onset Patterns of Autism Spectrum Disorder

A reasonable diagnostic suspicion of ASD can usually be placed around 18 months of age, while a definitive diagnosis of ASD can commonly be made within 3 years of age. There are several tools for early screening of ASD; one of the most used is still today the Modified Checklist for Autism in Toddlers (M-CHAT). 27 To make the final diagnosis of ASD as objective as possible, standardized assessment tools are used today, such as the Autism Diagnostic Observation Schedule—Second Edition (ADOS-2), 28 and Autism Diagnostic Interview—Revised (ADI-R). 29 In this context, the time factor is very important. 27 The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. 30 In this sense, the role of pediatricians can be decisive in making children with signs suggestive of ASD undertake a specialist diagnostic course. Nowadays, several ASD screening tests for pediatricians are available, none of which, however, is without setbacks; they represent useful tools but should not be considered the only source of information in order to decide whether to start a diagnostic workup in a center specialized in neurodevelopmental disorders. For this purpose, it is very important to pay attention to all possible warning signs reported by parents as well as to directly observe the behavior of the child. 27 In infants, even before a possible speech delay becomes evident, the most indicative signs of ASD are strictly related to social-communication skills as follows: looking at the faces of others; orienting to name; presence of joint attention (i.e., the ability to share focus with others on 1 object); affect sharing; and imitation. 31 When some of these behaviors are lacking, a specific assessment is mandatory. Further, let us not forget that the core signs of autism are not infrequently preceded by signs of impaired motor development, 32 such as motor delay, mostly slight, 33 hypotonia, 34 walking on tiptoes, and/or clumsiness. 1 Therefore, the presence of an early motor impairment, even if mild, should be included among the first signs that could lead to a timely ASD diagnosis. 32

Several different ASD onset patterns have been reported. The most frequent are the “early-onset” pattern, characterized by social-communication deficits developing in the first year or so, and the “regressive autism”, characterized by an onset of autistic signs in the second year, mostly at 16-20 months, associated with a loss of social-communication skills. Another onset pattern is characterized by mixed features: first delay and later loss of social communication skills. There is also an onset pattern named “developmental plateau”, characterized first by normal social development and/or non-specific abnormalities (involving also feeding or sleep), and later by a lack of new acquisitions on the socio-communicative level. 31

Neuropsychological Hypotheses About Autism Spectrum Disorder

From a neuropsychological point of view, 3 main hypotheses have been developed to explain cognitive dysfunction in individuals with ASD. 35 First, failure of theory of mind refers to the inability to interpret the behaviors of others based on their feelings and beliefs and to identify their intentions and emotions, leading to social communication impairments. 36 , 37 Second, there is the hypothesis of a deficit of executive functions, which are a series of cognitive processes including attention, working memory, inhibitory control, planning, and cognitive flexibility that are crucial for adaptive behavior and social cognition skills. 38 , 39 Third, weak central coherence theory refers to the propension of individuals with ASD to use an information processing style that is excessively detail-oriented, 40 , 41 leading to an impairment of social interactions for which an adequate integration of diverse elements such as voice, mimicry, gestures, and environmental context is necessary. 41 This theory partly overlaps with what was mentioned above regarding the multimodal integration deficit and underlines once again the fact that, although visuospatial skills and attention to detail represent strengths in these subjects, when they have to integrate this type of stimuli with other types of stimuli, they may encounter great difficulty. 35

These 3 theories are not mutually exclusive. Each of them is able to explain a part of the autistic symptomatology, but none is able to give a complete explanation. 35

Treatments for Autism And Longterm Outcome

The development of increasingly advanced cognitive-behavioral educational techniques, of which the best known belong to applied behavior analysis (ABA) therapy, has considerably improved the prognosis of affected individuals. Applied behavior analysis utilizes the principles of psychological learning theory in order to modify the behaviors usually present in subjects with ASD. In the 1970s, Ole Ivar Lovaas developed a method that was based on Burrhus Frederic Skinner’s operant conditioning theory, with the aim of changing behaviors and improving social interactions in children with ASD. During the past 60 years, ABA has changed considerably, evolving into many treatment practices, with the aim of dealing with the problems of individuals with ASD in all functioning domains, such as cognition, social skills, language, daily living skills, and challenging behaviors. 42 Today, only a small minority of these subjects come off the autistic spectrum, but almost all can improve considerably by increasing their level of autonomy. 43 After the diagnosis, psychoeducational and often emotional support are very important for parents. Several other interventions are used extensively around the world for children with ASD, although the evidence for their effectiveness does not match that of ABA. Occupational therapy interventions, in particular those using new technologies such as the computer, have shown positive effects on activities of daily living and social skills. 44 In the contest of occupational therapy, sensory integration interventions, in particular when using the principles proposed by Anna Jean Ayres (e.g., tailoring challenges to assure that they are slightly beyond the current performance level of the child), showed positive effects on participation in daily-life activities and routines. 45 Floortime, a relationship-based therapy, has shown that it can improve communication, emotional functioning, and daily living skills in children with ASD. 46

A pharmacological therapy for the core symptoms of autism does not exist. However, pharmacological therapies are used to treat comorbidities: for example, melatonin or (if not effective) niaprazine for sleep disorders, antiseizure drugs for epilepsy (the choice of drugs depends mainly on the type of epilepsy and possible behavioral undesirable effects), and methylphenidate for ADHD. In addition, drug therapy is used to treat challenging behaviors when cognitive-behavioral interventions have not produced adequate results. In these situations, atypical neuroleptics (e.g., risperidone and aripiprazole) are currently the most commonly often used drugs. Indeed, based on a recent systematic review and meta-analysis of antipsychotic medications in autism, there is some evidence for favorable effects of risperidone and aripiprazole on irritability and agitation in children with ASD. 47 However, we wish to underline that the use of pharmacotherapy should be resorted to only when there is a real need and, if possible, for limited periods of time.

Based on the hypothesis that children with ASD have increased levels of systemic heavy metals interfering with their neurodevelopment and leading to autism, in many of these patients, chelation therapy has been attempted using an agent that binds to the excess heavy metal, causing its excretion. Yet, clinical trials of this therapy in ASD are lacking. Based on literature data, in ASD there is no evidence for the effectiveness of chelation therapy, which is associated with very severe and potentially lethal side effects such as cardiac arrhythmias and hypocalcaemia. 48

Interesting findings are emerging regarding diet therapy. One recent systematic review and meta-analysis suggests that diet therapies (including ketogenic diets, gluten-free diets, and gluten-free and casein-free diets), may have favorable effects even on ASD core symptoms. However, more high-quality clinical trials are needed. 49

During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning: the higher the intelligence quotient, the better the long-term evolution. But also, the presence of verbal language (although atypical) within 5-6 years of life appears to be a favorable prognostic factor. 43 Unfortunately, approximately 25%-30% of affected individuals develop very little to no verbal skills; they are called “minimally verbal” and usually show a poor long-term outcome. The severe deficit of communication skills (verbal and nonverbal) is very often the basis of the aforementioned challenging behaviors. Also for this reason, providing early non-speaker individuals with alternative means of communication, such as augmentative and alternative communication, is of paramount importance. 50

Conclusions

For professionals who deal with ASD, it is a frustrating situation to witness the growth in the prevalence of this condition without knowing exactly the reasons and consequently without having the most suitable tools to counter it, despite all the knowledge about the neurobiology of ASD that has accumulated over the last years. Today, however, it seems clear that genetic factors alone are unable to explain this phenomenon that some have called the “autism epidemic.” Therefore, in recent years, growing attention has been paid to the environmental factors that can trigger the mechanisms leading to the development of ASD. For these factors, actions of prevention could be very useful, but they require potentially unpopular political decisions whose possible effectiveness could be evaluated only in the long term. Unfortunately, nowadays we still know too little about environmental factors to undertake fully effective prevention actions.

From the research perspective, perhaps to better understand why a child develops an ASD, it would be interesting to study not only what is possibly missing in him/her (e.g., chromosomal deletion detected by the array CGH) or what malfunctions (e.g., focal paroxysmal abnormalities on the electroencephalogram), but also the existing possible protective factors, for example, in the genetic heritage of typically developing individuals and which would be missing in subjects with ASD. This research approach could provide very useful information in the future, but it would clearly be very complicated to put into practice.

The increasing prevalence of ASD clearly has a very negative impact on the public health service, due to the large human and material resources that must be employed to address the problem on the diagnostic and therapeutic sides. However, it should be clear that what we do for today’s autistic children will inevitably affect tomorrow’s autistic adults. Spending many resources on treatments for individuals with ASD in their developmental age in order to give them as much personal autonomy as possible, for example in terms of communication skills, is an investment for the future as it reduces the risk of challenging behaviors arising in adolescence or adulthood, which in turn involve the prolonged use of large resources.

Funding Statement

This study received no funding.

Peer-review: Externally peer-reviewed.

Author Contributions: Concept, Design, Writing, Literature Search – A.P.; Concept, Supervision, Critical Review – P.V.

Acknowledgment: The authors would like to thank Cecilia Baroncini for help in editing the text.

Declaration of Interests: The authors have no conflict of interest to declare.

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Science News

Aimee grant investigates the needs of autistic people.

Her research focuses on reproductive health care

Public health researcher Aimee Grant considers autism a cognitive difference, rather than a deficit.

Matthew Arthur

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By Saima S. Iqbal

April 19, 2024 at 9:30 am

Before becoming a researcher, Aimee Grant worked as a caregiver for six years in Cornwall, England, supporting autistic adults in group homes. But only more than a decade later, after befriending an autistic colleague at a sociology conference, did she realize she was autistic herself.

The stereotypical view of autism as a brain impairment more commonly found in men made it difficult for Grant to make sense of her internal world. From an early age, she struggled to pick up on important social cues and found the sounds and scents in her environment distractingly painful. But like many children in her generation, she says, she grew accustomed to either dismissing or disguising her discomfort. It was by listening to some of the stories of her female peers that Grant saw that the label could fit.

Receiving a diagnosis in 2019 prompted her to “reframe [my] entire life,” she says. She began working with her mind rather than against it. She no longer felt the same pressure to seem as nonautistic as possible with friends and family members, and she began to make use of accommodations at work, such as a light filter for her computer monitor. Today, as a public health researcher at Swansea University in Wales, Grant aims to uncover the lived experience of autistic people. Many scientists and clinicians see autism as a developmental disorder that hinders a person’s ability to understand and communicate with others. Grant believes that their work often obscures the heterogeneity of autism. And because many studies view autism as a disease, they overlook the reality that autistic people can feel more disabled by widespread misunderstanding and a lack of accommodations than by autistic traits themselves.

My work has a purpose: to make lives better for marginalized groups. Aimee Grant

In line with the thinking of the neurodiversity movement that emerged in the 1990s, Grant views autism as a cognitive difference, rather than a deficit: an alternative way of being in the world just as deserving of understanding and acceptance as any other. “I would say I’m disabled because of a range of different things, including being autistic,” she explains. (Grant has dyslexia and uses a wheelchair.) “But were I in a different environment, I don’t think I’d necessarily be disabled by being autistic — I think it’s those kinds of neurotypical expectations that can make life quite difficult.”

So Grant is asking a different research question: What might autistic people need?

She’s among a growing group of neurodivergent researchers whose science seeks to better serve its participants. Large surveys conducted in the United States and the United Kingdom  suggest that the majority of autistic people would choose to spend research dollars on actionable studies on well-being versus studies of the basic science of autism. At conferences and in private Facebook groups, researchers trying to shift science’s focus now number in the hundreds.

Grant’s current work centers on autistic mothers and parents with wombs. Through extensive surveys and interviews, she’s studied the barriers some autistic parents face in breastfeeding and identified ways clinicians can temper the pain of their patients’ pregnancy loss, such as by using clear and direct language or allowing partners or patient advocates into hospital rooms. On a YouTube channel she helped launch last year, autistic people share details of pregnancy and parenting . And she’s cofounded the Autistic Health Research Network , a small but international association of researchers seeking to better health care outcomes in the autistic community.

A passion for improving lives powers her research and outreach, says Karen Henry, a lecturer in midwifery at the University of Suffolk in England. Both Henry and Grant are part of the U.K.-based Maternity Autism Research Group . “I don’t know how she has enough hours in the day.”

Reimagining autism research

Grant’s work aims not only to serve study participants, but also to amplify their voices. By aggregating personal accounts, her research gives participants’ testimonies weight they often lack on their own, Henry says.

In one breastfeeding study, published last November in Maternal & Child Nutrition , Grant’s team surveyed 152 autistic birthing parents in the United Kingdom . The team found that nearly 70 percent of participants enjoyed breastfeeding overall. But 45 percent reported dealing with pain roughly half the time or more. One parent likened the feeling of the let-down reflex that gets breastmilk flowing to “an old-fashioned telephone ringing in my breasts.”

Still, most remained committed to breastfeeding, which the World Health Organization recommends women do exclusively for at least six months. The parents came up with creative solutions to ease their discomfort, including wearing clothing that exposed less of the most sensitive skin, wearing nipple shields and distracting themselves with videos or games on their phones.

Parents who received support from health care professionals, such as midwives or lactation consultants, tended to have a much easier time with breastfeeding. But nearly half of study participants had a negative interaction with at least one clinician, either struggling to access services, receiving incomplete or conflicting health information, or even feeling that their struggles were flat-out dismissed.

In the United Kingdom, just 1 percent of all mothers meet the WHO’s six-month recommendation, according to the latest available data from 2010. Grant and colleagues attribute this low rate to structural impediments, such as inadequate support for breastfeeding parents and aggressive campaigning by the formula industry, not to a lack of trying on the part of parents.

Grant says she has always wanted to “change perceptions about groups,” especially those criticized in the media, in regards to the broader ethos of her work, “to help the wider public recognize just how hard that group is working.”

To shed light on things that might not be known by policy makers, Grant has communicated her findings to the public in news articles and at conferences. The YouTube channel she helped launch now features more than a hundred clips of autistic parents and maternity experts sharing their expertise.

In 2022 Grant won a $3 million grant for an expansive study characterizing the broad reproductive health care needs of autistic people with wombs, from menstruation to menopause. The project, funded by Wellcome, will recruit 100 participants, interviewing them every six months for a total of five years.

“There’s a lot more questions than answers at the moment,” Grant says. Some of her team’s questions include: How can individuals manage the sensation of a period cramp or of ultrasound gel? What contraceptives do participants use, and what are their experiences? Are there differences in how autistic people sense and communicate bodily pain to health care professionals compared with what the research says of nonautistic people?

A project of such size and duration will identify areas where autistic people’s health care needs are not being met, Grant predicts. It may uncover positives of the autistic experience, as well as new avenues for research. Her team plans to keep the interviews loosely structured to “give people the space to talk about the things that are important to them.”

The team — made up entirely of autistic researchers — aims to capture the diversity within the community by partnering with autism organizations that serve individuals of various ethnic backgrounds and learning abilities, by paying participants for their time and for sign language interpreters if needed, and by allowing participants to choose to respond to questions through a video call, on the phone or via email. The researchers will also use their own neurodivergent perspectives to anticipate hurdles for participants: for example, putting text in fonts and colors that are easier to read or eliminating exclusionary phrases such as “autistic women,” which leaves out transgender and nonbinary people with wombs.

Grant is “really one of those practice-what-you-preach people,” says Rebecca Ellis of Swansea, one of four research assistants working on the project. “She is continually making sure that she can be as inclusive as possible and amplify the voices that get heard the least.”

Keeping an open mind

Grant doesn’t claim to have the single answer on what research on autism should look like; she’s committed to having an open mind. “I’m sure in 10 years we’ll have even more of a social model of autism,” she says, referring to a well-established view of autism as a disability constructed in large part by society, “and where we are now will seem outdated.” For now, she’s helping to get different perspectives in the room, collecting evidence for the theory that one’s environment can be more disabling than one’s predisposition.

Grant’s path to science may be part of what makes her work so unconventional.

Growing up, she did not expect to become a researcher. Her father was a firefighter, and her mother a housewife. In school, she just kept pursuing “the next thing that was interesting.” She attributes where she is today in large part to chance.

She pursued a Ph.D. in social policy at Cardiff University, where she studied competing political narratives around disability-benefit users, debunking a prominent myth that claimants were exploiting the welfare system. After completing that work, she needed to find a job near her home in order to reserve a spot on a waiting list for much-needed surgery. She worked in Cardiff as a research assistant, studying how well the National Health Service’s smoking cessation programs work, and then was asked to shift her focus to maternity. After her own autism diagnosis, she began to focus on autistic parents.

Along the way, she tended to be drawn to and stick with jobs with a social justice ethos. “My work has a purpose: to make lives better for marginalized groups,” she says. “It’s almost painful for me to do research that isn’t in those areas.”

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New Research May Change How We Think About the Autism Spectrum

Insar keynote suggests brain differences correlate with cognition—not diagnosis..

Posted May 16, 2022 | Reviewed by Davia Sills

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• Dr. Evdokia Anagnostou presented the results of neuroimaging studies at the International Society for Autism Research 2022 annual meeting.
• Of note, brain differences clustered along dimensions of cognition and hyperactivity, not diagnosis.
• These findings suggest we need to reconsider how we classify neurodivergence.

University of Toronto child neurologist Evdokia Anagnostou dropped a bombshell in her keynote Saturday at the annual meeting of the International Society of Autism Research (INSAR) in Austin, Texas, which may call into question the validity of the autism spectrum disorder (ASD) diagnosis.

What Brain Scans Tell Us About Autism Spectrum Disorder

Anagnostou and her colleagues had set out to use neuroimaging to identify brain differences unique to ASD, as compared to other neurodevelopmental differences like ADHD , OCD , and intellectual disability. And they did find that brain differences clustered into different groups—but not by diagnosis. In fact, brain scans could not distinguish children who had been diagnosed with ASD from those who had been diagnosed with ADHD or OCD.

“Dr. Anagnostou reported data from multiple papers that looked at over 3,500 children,” Dr. Alycia Halladay, Chief Science Officer at the Autism Science Foundation, explained to me. “These studies looked at multiple structural and functional features of the brain—including cortical gyrification (the way the brain folds in the cortex), connectivity of different brain regions, and the thickness of the cortical area—and found no differences based on diagnosis.”

Groupings did emerge, but they were along totally different axes. Added Halladay, “The brains themselves were more similar based on cognitive ability, hyperactivity, and adaptive behavior.” In other words, the brains of mildly affected autistic children looked much more like the brains of kids with ADHD than they did like those of severely autistic children.

Validity of the Autism Spectrum Diagnosis May Be at Stake

If replicated, these findings could have tremendous implications for our current diagnostic framework. During the question and answer period following her talk, Anagnostou described two children who both carried the diagnosis of autism; one was very mildly affected, while the other had such disordered behavior that “even their bus driver knows” he is autistic. “Should these kids have the same diagnosis?” she asked.

Right now, they do—but there has been a growing dissatisfaction among many stakeholders in the autism community with the American Psychiatric Association’s introduction of the all-encompassing ASD diagnosis in the 2013 revision of the Diagnostic and Statistical Manual (DSM-5) to replace more narrowly defined categories, including Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), and childhood disintegrative disorder.

In 2021, the Lancet Commission —a group of 32 researchers, clinicians, autistic individuals, and family members—called for the creation of a new label, “profound autism,” that would carve out those autistic individuals who also suffer from cognitive and language impairments and require round-the-clock supervision. “Anagnostou’s data converge nicely with the Lancet Commission’s proposal,” Halladay observed. “They provide biological evidence for a category that was originally defined solely by external criteria.”

At the very least. The real question is whether this work demands an even more radical re-imagining of our classification of neurodevelopmental differences. If, as Anagnostou’s data demonstrates, cognition and hyperactivity are much more correlated with brain difference than variables like social deficit that have been considered core symptoms of autism, then perhaps it’s time to scrap our current model and introduce new diagnoses based on these more salient dimensions. Aligning our diagnostic system with underlying biology is the first step in the development of targeted interventions for some of the most intractable and dangerous behaviors exhibited by the developmentally disabled, such as aggression , elopement, self-injury , and pica (the compulsion to eat inedible objects).

As Anagnostou opened her talk, “Nature doesn’t read the DSM.” But, as our understanding of the brain advances, shouldn’t the DSM reflect these divisions in nature?

Amy S.F. Lutz, Ph.D. , is a historian of medicine at the University of Pennsylvania. She is the author of We Walk: Life with Severe Autism (2020) and Each Day I Like It Better: Autism, ECT, and the Treatment of Our Most Impaired Children (2014) . She is also the Vice-President of the National Council on Severe Autism (NCSA).

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Brain organoids and assembloids are new models for elucidating, treating neurodevelopmental disorders

Stanford Medicine research on Timothy syndrome — which predisposes newborns to autism and epilepsy — may extend well beyond the rare genetic disorder to schizophrenia and other conditions.

April 24, 2024 - By Bruce Goldman, Erin Digitale

In this 2019 photo, Timothy syndrome patient Holden Hulet, left, rides in a side-by-side ATV driven by his dad, Kelby Hulet, at sand dunes near their home in southern Utah.  Courtesy of the Hulet family

For a long time, no one understood that Holden Hulet was having seizures.

“He would just say ‘I feel tingly, and my vision kind of goes blurry,’” said Holden’s mom, JJ Hulet. “But he couldn’t communicate exactly what was going on.”

JJ and Kelby Hulet could see their son was having short spells of incoherent speech, rapid back-and-forth eye movements and odd physical changes. “He’d kind of go — I don’t want to say ‘limp’ because he would stand just fine — but his body would just be in zombie mode,” JJ said. The episodes lasted less than a minute.

The parents were puzzled and worried, as they had been many times since Holden was born in 2008 and they learned that their newborn had an extremely rare genetic disease. “I was thinking it was his heart,” Kelby Hulet, Holden’s dad, said.

Holden’s condition, Timothy syndrome, causes long, irregular gaps in heart rhythm. He spent his first six months hospitalized in a neonatal intensive care unit in his family’s home state of Utah while he grew big enough to receive an implantable cardioverter defibrillator. The device sends an electrical signal to restart his heart when it pauses for too long.

As a small child, Holden would sometimes pass out before the defibrillator shocked his heart back into action. When Holden started telling his parents about the blurry-vision episodes at age 6, Kelby initially believed it was a new version of the same problem, and he kept a time stamp on his phone for each episode. But the records from Holden’s defibrillator showed that these times did not line up with any heart-rhythm problems.

The family’s pediatrician was confused, too. Perhaps Holden was having periods of low blood sugar, another possible Timothy syndrome complication, he suggested. Initial testing at the local medical center did not turn up clear answers.

But Kelby, who was training to become an operating room nurse, realized Holden’s episodes reminded him of what he was learning about warning signs for stroke. JJ called Holden’s cardiologist in Utah and asked for a detailed neurologic evaluation, which enabled the mysterious episodes to be diagnosed as seizures. Holden began taking anti-seizure medication, which helped, to his parents’ great relief.

Researching a rare disease

A few months after Holden was born, Sergiu Pasca , MD, arrived at Stanford Medicine to pursue a postdoctoral fellowship in the lab of Ricardo Dolmetsch, PhD, then an assistant professor of neurobiology, who was redirecting his research to autism spectrum disorder. At the time, Pasca did not know the Hulet family. But his work soon became focused on the disorder that has shaped Holden’s life.

Caused by a defective gene on the 12th chromosome, Timothy syndrome is vanishingly rare, with no more than 70 diagnosed cases. Children with this disorder rarely survive to late adolescence. It is caused by a mutation in the gene coding for a type of calcium channel — a protein containing a pore that selectively opens or closes, respectively permitting or blocking the flow of calcium across cells’ membranes. While a prominent feature — severe heart malfunction — can be tackled with a pacemaker, most children with Timothy syndrome will end up with lifelong brain disorders including autism, epilepsy and schizophrenia.

By mid-2009, Pasca had succeeded in generating nerve cells from induced pluripotent stem cells (which can be induced to form virtually any of the body’s numerous cell types). These included cells derived from the skin of two patients with Timothy syndrome. Later that year he observed defects in how the patient-derived neurons were handling calcium. This advance — the creation of one of the initial in-a-dish models of brain disease, built from neurons with defects that precisely mirrored those of a patient’s brain — was published in Nature Medicine in 2011.

Pasca and colleagues continued to monitor these Timothy-syndrome neurons in standard two-dimensional culture — growing as single layers in petri dishes — over the next few years. While this two-dimensional culture method was limited in its ability to sustain viable neurons, it was soon superseded by a genuine scientific breakthrough.

Pioneering the first assembloids

The constraints of two-dimensional culture, including the inability to keep these neurons for long periods of time so that they could reach key stages of neural development, prompted Pasca in 2011 to start developing an unprecedented three-dimensional method. The novel technology produced what came to be known as brain organoids. These constructs recapitulated some of the architecture and physiology of the human cerebral cortex. The organoids can survive for several years in culture, enabling neuroscientists to view, non-invasively, the developing human brain up close and in real time. The scientists wrote a seminal Nature Methods paper , published in 2015, that described their discovery.

Pasca’s group subsequently showed that culturing brain organoids in different ways could generate organoids representing different brain regions (in this case, the cerebral cortex and a fetal structure called the subpallium). In a breakthrough set of experiments, Pasca’s team found ways to bring these organoids into contact so that they fuse and forge complex neuronal connections mimicking those that arise during natural fetal and neonatal development. Pasca named such constructs assembloids.

In their paper on the research, which was published in Nature in 2017, Pasca’s team showed that after fusion, a class of inhibitory neurons originating in the subpallium migrates to the cortex, proceeding in discrete, stuttering jumps. (See animation .) These migrating neurons, called interneurons, upon reaching their destinations — excitatory neurons of the cortex — form complex circuits with those cortical neurons.

But in assembloids derived from Timothy syndrome patients, the motion of interneurons as they migrate from the subpallium is impaired — they jump forward more often, but each jump is considerably shorter, so they fail to integrate into the appropriate circuitry in the cortex. This wreaks havoc with signaling in cortical circuits. Pasca’s team tied this aberrant neuronal behavior on the part of Timothy syndrome neurons to the key molecular consequence of the genetic defect responsible for the condition: namely, malfunction of the critical channels through which calcium must pass to cross neurons’ outer membranes.

A family’s struggles

While Pasca was developing assembloids, the Hulet family was progressing through their own journey of discovery with Holden. They faced painful uncertainty at every stage, starting when Holden was discharged from the NICU in the summer of 2009, after several months of hospitalization and multiple heart surgeries.

“Even when we brought him home, [his doctors] said ‘Don’t get your hopes up. We don’t usually see them make it past age 2,” JJ recalled. Many children with Timothy syndrome die from cardiac failure in early life.

“It’s really hard to be positive in that kind of situation, and for a long time I did let it get to me,” JJ said. “I finally got to a point where I said, ‘I have to live my life and we just keep fighting.’”

JJ runs a child care center and has years of experience working with special-needs kids, which motivated her to push for an autism evaluation when she saw signs of autism in Holden. He’s much more verbal than many children with autism, which paradoxically made it more difficult to get an official diagnosis.

“That was frustrating,” JJ said. Although the family’s pediatric cardiologist in Salt Lake City was familiar with the vagaries of Timothy syndrome, their local caregivers in the small town where they live in southern Utah were not. “They kept saying ‘Oh, no, it’s just developmental delays because he was so premature,’” she said. She wonders whether it would have been easier to have Holden’s autism diagnosed had more been known about Timothy syndrome at the time.

“I think research is important so that parents and children have the support they need,” she said, noting how lonely and painful it can be to advocate for a child when his condition is poorly understood — and when, as a parent, you may be doubted by medical professionals. “It’s a really hard thing to deal with.”

Her voice breaks briefly. She continues, “I think research brings validity to that.”

Sergiu Pasca

Implanting organoids

In 2022, Pasca published a  study in  Nature describing the transplantation of human cortical organoids into neonatal rats’ brains, which resulted in the integration of human neurons along with supporting brain cells into the brain tissue of rats to form hybridized working circuits. The implanted human organoids survived, thrived and grew. Individual neurons from the human organoids integrated into young rats’ brains were at least six times as big as those — generated the same way, at the same time — that remained in a dish. The transplanted neurons also exhibited much more sophisticated branching patterns. Pasca and his colleagues observed marked differences in the electrical activity of, on one hand, human neurons generated from a Timothy syndrome patient, cultured as organoids and transplanted into one side of a rat’s brain, and, on the other hand, those generated from a healthy individual and transplanted, as an organoid, into the corresponding spot on the other side of the same rat’s brain. The Timothy syndrome neurons were also much smaller and were deficient in sprouting branching, brush-like extensions called dendrites, which act as antennae for input from nearby neurons.

“We’ve learned a lot about Timothy syndrome by studying organoids and assembloids kept in a dish,” Pasca said. “But only with transplantation were we able to convincingly see these neuronal-activity-related differences.”

That same year, the FDA Modernization Act 2.0 was signed into law, exempting certain categories of new drug-development protocols from previously mandated animal testing. The act was predicated on the understanding that recent advancements in science offer increasingly viable alternatives to animal testing, so the findings based on the organoid- and assembloid-culture technologies may be adequate to justify clinical trials in some neurodevelopmental conditions.

Most recently, in a Nature paper published April 24, Pasca and his colleagues demonstrated, in principle, the ability of antisense oligonucleotides (ASOs) to correct the fundamental defects that lead to Timothy syndrome by nudging calcium-channel production toward another form of the gene that does not carry the disease-causing mutation. Using ASOs to guide production of the functional rather than defective form of this channel reversed the defect’s detrimental downstream effects: Interneuronal migration proceeded similarly to that procedure in healthy brains, and the altered electrical properties of the calcium channel reverted to normalcy. This therapeutic correction was demonstrated in a lab dish — and, critically, in rat-transplantation experiments, suggesting that this therapeutic approach can work in a living organism.

Pasca is now actively searching the globe for carriers of the genetic defect, in preparation for the pursuit of a clinical trial at Stanford Medicine to test the safety and therapeutic potential of ASOs in mitigating the pathological features of Timothy syndrome.

“We are also actively engaged in conversations with other scientists, clinicians in the field and ethicists about the best way to move forward and safely bring this therapeutic approach into the clinic,” he said.

Pasca added that the calcium channel that is mutated in Timothy syndrome is, in fact, “the hub” of several neuropsychiatric diseases including schizophrenia and bipolar disorder. So it may be that the lessons learned — and the therapies derived — from his 15-year focus on a rare disease may have broad application in a number of widespread and troubling psychiatric conditions.

‘Amazing’ teenager

Today, in defiance of his doctors’ warning that he might not live past age 2, Holden Hulet is 15 years old and doing well.

“I think a lot of times, autism is perceived as ‘They’re not neurotypical and they’re not capable of certain things.’ But he is brilliant,” JJ said. “He’s amazing with techie stuff or Legos. He’s funny and super honest and very self-aware.”

Kelby often takes Holden to visit the farm where he grew up. Holden loves to ride the farm equipment and enjoys hanging out with the animals, especially the farm dogs and calves. Like a lot of kids, he keeps an eye out for good rocks, Kelby said with a chuckle.

“He’s always either throwing them or collecting them,” JJ said. “That’s something I really like about him: He’s always got a pocket full of something.”

Although navigating a rare disease is one of the most challenging things they have faced, the Hulets see light in their situation, and would offer encouragement to any family facing a new Timothy syndrome diagnosis.

“There is hope,” JJ said. “There are people out there who care, people out there who fight for you who don’t even know you. I think that’s what is so important about research — that you’re fighting a battle for people you don’t even know.”

About Stanford Medicine

Stanford Medicine is an integrated academic health system comprising the Stanford School of Medicine and adult and pediatric health care delivery systems. Together, they harness the full potential of biomedicine through collaborative research, education and clinical care for patients. For more information, please visit med.stanford.edu .

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Scientists reveal two paths to autism in the developing brain

Two distinct neurodevelopmental abnormalities that arise just weeks after the start of brain development have been associated with the emergence of autism spectrum disorder, according to a new Yale-led study in which researchers developed brain organoids from the stem cells of boys diagnosed with the disorder.

And, researchers say, the specific abnormalities seem to be dictated by the size of the child's brain, a finding that could help doctors and researchers to diagnosis and treat autism in the future.

The findings were published Aug. 10 in the journal Nature Neuroscience.

"It's amazing that children with the same symptoms end up with two distinct forms of altered neural networks," said Dr. Flora Vaccarino, the Harris Professor in the Child Study Center at Yale School of Medicine and co-senior author of the paper.

Using stem cells collected from 13 boys diagnosed with autism -- including eight boys with macrocephaly, a condition in which the head is enlarged -- a Yale team created brain organoids (small, three-dimensional replicas of the developing brain) in a lab dish that mimic neuronal growth in the fetus. They then compared brain development of these affected children with their fathers. (Patients were recruited from clinician colleagues at the Yale Child Study Center, which conducts research, service, and training to improve understanding of health issues facing children and their families.)

The study was co-led by Alexandre Jourdon, Feinan Wu, and Jessica Mariani, all from Vaccarino's lab at the Yale School of Medicine.

About 20% of autism cases involve individuals with macrocephaly, a condition in which a child's head size is in the 90 th percentile or greater at birth. Among autism cases these tend to be more severe.

Intriguingly, the researchers found that children with autism and macrocephaly exhibited excessive growth of excitatory neurons compared with their fathers while organoids of other children with autism showed a deficit of the same type of neurons.

The ability to track the growth of specific types of neurons could help doctors diagnose autism, symptoms of which generally appear 18 to 24 months after birth, the authors say.

The findings may also help identify autism cases that might benefit from existing drugs designed to ameliorate symptoms of disorders marked by excessive excitatory neuron activity, such as epilepsy, Vaccarino said. Autism patients with macrocephaly might benefit from such drugs while those without enlarged brains may not, she said.

Creating biobanks of patient-derived stem cells could be essential to tailor therapeutics to specific individuals, or personalized medicine.

Abyzov Alexej, an associate professor of biomedical informatics at the Mayo Clinic, is co-senior author of the paper.

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Story Source:

Materials provided by Yale University . Original written by Bill Hathaway. Note: Content may be edited for style and length.

Journal Reference :

• Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton, Livia Tomasini, Anahita Amiri, Milovan Suvakov, Jeremy D. Schreiner, Yeongjun Jang, Arijit Panda, Cindy Khanh Nguyen, Elise M. Cummings, Gloria Han, Kelly Powell, Anna Szekely, James C. McPartland, Kevin Pelphrey, Katarzyna Chawarska, Pamela Ventola, Alexej Abyzov, Flora M. Vaccarino. Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis . Nature Neuroscience , 2023; DOI: 10.1038/s41593-023-01399-0

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Autism Prevalence Rises Again, Study Finds

The pandemic may have disrupted the detection of autism spectrum disorder in young children, researchers also reported.

By Emily Anthes

The prevalence of autism spectrum disorder in American children rose between 2018 and 2020, continuing a long-running trend , according to a study released by the Centers for Disease Control and Prevention on Thursday. In 2020, an estimated one in 36 8-year-olds had autism, up from one in 44 in 2018. The prevalence was roughly 4 percent in boys and 1 percent in girls.

The rise does not necessarily mean that autism has become more common among children, and it could stem from other factors, such as increased awareness and screening.

“I have a feeling that this is just more discovery,” said Catherine Lord, a professor of psychiatry at the University of California, Los Angeles medical school, who was not involved in the research. “The question is what’s happening next to these kids, and are they getting services?”

The rise was especially sharp among Black, Hispanic, and Asian or Pacific Islander children. For the first time, autism was significantly more prevalent among 8-year-olds in these groups than in white children, who have traditionally been more likely to receive autism diagnoses.

“These patterns might reflect improved screening, awareness and access to services among historically underserved groups,” the researchers wrote.

But why the prevalence in these children has surpassed that in white children is an open question that requires more investigation, Dr. Lord said.

An accompanying study, also published on Thursday, suggests that the pandemic may have disrupted or delayed the detection of autism in younger children.

For this analysis, the researchers compared the number of autism evaluations and identifications for children who were 4 years old in 2020 to the equivalent numbers from four years earlier. In the six months before the pandemic began, autism evaluations and identifications were higher among the 4-year-olds than they had been in young children four years prior.

That is good news, Dr. Lord said. “It means we’re finding kids younger.”

But after March 2020, when the World Health Organization declared Covid-19 a pandemic, autism evaluations and detections plummeted, remaining below prepandemic levels through the end of 2020, the researchers reported.

Parents may have been less likely to bring their children in for autism evaluations during the pandemic, Dr. Lord said. The closure of schools and the shift to remote learning may have also made it harder for educators to identify children who might have benefited from evaluations or services.

“Disruptions due to the pandemic in the timely evaluation of children, and delays in connecting children to the services and support they need, could have long-lasting effects,” Dr. Karen Remley, director of the C.D.C.’s National Center on Birth Defects and Developmental Disabilities, said in a statement.

Both studies are based on data from the Autism and Developmental Disabilities Monitoring Network , which has used health and education records to track autism in communities across the United States since 2000.

The network has documented an increase in autism prevalence since 2000 , when approximately one in 150 8-year-olds were estimated to have autism.

The 2020 data come from sites in 11 states and are not necessarily representative of the nation as a whole. Data from other locations could help provide a more comprehensive picture, Dr. Lord said.

Emily Anthes is a reporter for The Times, where she focuses on science and health and covers topics like the coronavirus pandemic, vaccinations, virus testing and Covid in children. More about Emily Anthes

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Autism Breakthrough: New Treatment Significantly Improves Social Skills and Brain Function

By Tel-Aviv University November 29, 2022

The researchers anticipate that the study’s success will have positive implications for clinical treatment.

The treatment caused neurological changes, including a decrease in inflammation and an increase in functionality, according to the researchers.

A recent Tel Aviv University study found that pressure chamber therapy greatly improved social skills and the condition of the autistic brain. The research was carried out on autism animal models. The researchers discovered changes in the brain, including a decrease in neuroinflammation, which has been linked to autism. Furthermore, the social functioning of the animal models treated in the pressure chamber improved significantly. The success of the research has significant implications for the applicability and understanding of pressure chamber therapy as a treatment for autism.

Inbar Fischer, a Ph.D. student in Dr. Boaz Barak’s lab at Tel Aviv University’s Sagol School of Neuroscience and School of Psychological Sciences, led the team that made the discovery. The findings were recently published in the International Journal of Molecular Sciences .

According to Fischer and Barak, hyperbaric medicine is a kind of treatment in which patients are treated in special chambers where the atmospheric pressure is greater than the pressure we experience at sea level, and they are also given 100% oxygen to breathe. Hyperbaric medicine is already being used to treat a wide range of medical conditions and is considered to be safe. Scientific evidence has accumulated in recent years that certain protocols of hyperbaric treatments boost the supply of blood and oxygen to the brain, thereby increasing brain function.

Dr. Barak: “The medical causes of autism are numerous and varied, and ultimately create the diverse autistic spectrum with which we are familiar. About 20 percent of autistic cases today are explained by genetic causes, that is, those involving genetic defects, but not necessarily ones that are inherited from the parents. Despite the variety of sources of autism, the entire spectrum of behavioral problems associated with it are still included under the single broad heading of ‘autism,’ and the treatments and medications offered do not necessarily correspond directly to the reason why the autism developed.”

In the preliminary phase of the study, a girl carrying the mutation in the SHANK3 gene, which is known to lead to autism, was treated by Prof. Shai Efrati. He is director of the Sagol Center for Hyperbaric Medicine at the Shamir “Assaf Harofeh” Medical Center, a faculty member at the Sagol School of Neuroscience, and a partner in the study. Upon completing a series of treatments in the pressure chamber, it was evident that the girl’s social abilities and brain function had improved considerably.

In the next stage, and in order to comprehend the success of the treatment more deeply, the team of researchers at Dr. Barak’s laboratory sought to understand what being in a pressurized chamber does to the brain. To this end, the researchers used adult animal models carrying the same genetic mutation in the SHANK3 gene as that carried by the girl who had been treated. The experiment comprised a protocol of 40 one-hour treatments in a pressure chamber, which lasted several weeks.

Dr. Barak: “We discovered that treatment in the oxygen-enriched pressure chamber reduces inflammation in the brain and leads to an increase in the expression of substances responsible for improving blood and oxygen supply to the brain, and therefore brain function. In addition, we saw a decrease in the number of microglial cells, immune system cells that indicate inflammation, which is associated with autism.

“Beyond the neurological findings we discovered, what interested us more than anything was to see whether these improvements in the brain also led to an improvement in social behavior, which is known to be impaired in autistic individuals,” adds Dr. Barak.

“To our surprise, the findings showed a significant improvement in the social behavior of the animal models of autism that underwent treatment in the pressure chamber compared to those in the control group, who were exposed to air at normal pressure, and without oxygen enrichment. The animal models that underwent treatment displayed increased social interest, preferring to spend more time in the company of new animals to which they were exposed in comparison to the animal models from the control group.”

Inbar Fischer concludes: “The mutation in the animal models is identical to the mutation that exists in humans. Therefore, our research is likely to have clinical implications for improving the pathological condition of autism resulting from this genetic mutation, and likely also of autism stemming from other causes. Because the pressure chamber treatment is non-intrusive and has been found to be safe, our findings are encouraging and demonstrate that this treatment may improve these behavioral and neurological aspects in humans as well, in addition to offering a scientific explanation of how they occur in the brain.”

Reference: “Hyperbaric Oxygen Therapy Alleviates Social Behavior Dysfunction and Neuroinflammation in a Mouse Model for Autism Spectrum Disorders” by Inbar Fischer, Sophie Shohat, Gilad Levy, Ela Bar, Sari Schokoroy Trangle, Shai Efrati and Boaz Barak, 21 September 2022, International Journal of Molecular Sciences . DOI: 10.3390/ijms231911077

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144 comments on "autism breakthrough: new treatment significantly improves social skills and brain function".

So how do they know that the effect is caused by the pressure and not by the oxygen?

A very promising news.

if this was true then i’d expect to see this news everywhere i look, not just on this one site truth is, there isn’t enough research on this right now to truly say if this can help manage autism lets just treat autistic people like normal, aye?

do your own reading if you like: https://www.nice.org.uk/donotdo/do-not-use-hyperbaric-oxygen-therapy-to-manage-autism-in-any-context-in-children-and-young-people https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471082/ https://asatonline.org/for-parents/becoming-a-savvy-consumer/hyperbaric-oxygen-therapy/

i feel like if this was legit we’d be seeing news about this everywhere (which i’m not seeing) doing my own research concludes that this “treatment” is shaky at best, and hasn’t been given the proper scientific investigation it may or may not deserve

i don’t think i’m allowed to share links here, so just search up “hyperbaric chamber autism” and do your own research for now, let’s just not try to alienate autistic people aye?

Begs the question…. how long does the improved behavioral and neurological improvements last–days, weeks, months, years? Are additional hyperbaric treatments needed to maintain these improvements?

Maybe i don’t want to be social. Maybe my autism doesn’t need to be “fixed”.

If you’re happy as you are, that’s genuinely awesome, you don’t need to try it. But there are lots of people who would love to have it better managed than what is currently offered.

What you want might not be what the next person wants, though.

Allow me to clarify what Danielle might have been getting at. The characteristics of autism are part of us. Sure, learning life skills through OT, doing speech therapy, etc can be super useful and good for people with ASD to have a better quality of life. But neurotypicals trying to “fix” their autism because their autistic-ness doesnt fit in with society. The problem here isnt that people with autism are perfectly happy with their quality of life. Being autistic in this society sucks. Its horrible. But what a lot of autistics want is for society to change- being more inclusive, accepting, and accessable- not constantly hear how neurotypical society thinks they can and need to change us.

Exactly! Society disables us…we don’t need treatments or cures, just understanding.

You don’t need those things. But some autistic people do.

Please make room for *their* lived experience of autism, as you would like other people to make room for yours.

It’s a disability and many of us would like to treat or cure certain aspects to make our day to day life easier.

Well said! Articles like this give me rage.

Maybe the autistic people in the study were more regulated because the sensory environment of the hyperbaric oxygen tanks was ideal for them? And maybe there is nothing wrong with autistic people’s socialization, maybe it’s just different.

So my question is what the expectations are and how will preparations be made in the outcome of humans treated with this method in correlation to the absence of consciousness in a person. How will the transition be for the peraon treated. Would it be like the person experiencing birth? What are the difficulties of this?

This is fascinating to see used as a treatment. The implications and subsequent results would constitute being better classified as a cure. As for the people with negative responses to this, this is a new study, not going to see a lot of news, still in lab trials, for the one that doesn’t want autism fixed, ignorance is bliss, but please keep that ignorance to yourself. My specific form of autism is quite painful. Increasing my brain function would be fantastic. If you find that insulting, that is awesome. What are you doing looking at cures and treatments for something you are comfortable with? Wouldn’t you find something positive to occupy yourself with?

This research presents autism as a genetic weakness that needs to be cured which it is not it is neurodiversity which in many cases is proven to be an advantage Elon musk, Isaac Newton, Albert Einstein and many more had autism and they flourished. We need to help the disadvantages that autism brings and nurture the extraordinary things it does not try to eliminate it all together. This project is a pure example of fascism the belief that one group of people is superior to another. I feel sorry for the people and animals that have and will be in this experiment.

Anything that helps me achieve my goals is good for me. I want to more easily relate to others. I want a family. I don’t want people to feel like they were born with a disease, but I’d like options on how my own brain functions. It’s possible that given the nature of excess throughout history people will take this too far. However we need more options now and we can try to be better to reach other as we go on.

I’m going to need to see this replicated on more than a human sample size of one. When you treat one single person with something you will not be able to fully generalize their result/success rate to a population as diverse as the autism one, and the scientists even acknowledge it themselves, saying autistic behavior comes from so many different sources but are grouped together under one diagnostic label.

Why try to fix us? We are humans with a different ways of understanding and as far as I know you’ll never find an autistic tyrant or something worse We as people have a right as everyone yet it’s a problem to be fixed and if it’s just a model then I guess soon you’ll be wanting people so you’ll as parents for volunteers yeah right I’m dyslexic/autistic person who has finally accepted myself for who I am I’m a person not a problem to be fixed.

Wow I have seen the different reactions from people who are autistic and wonder if there is a need for further research and diversity and maybe direction as to the source of this (difference) in structure and function of the brain that leads to the classification of autism. If there is a seemingly a discovery of a treatment or protocol that will make for a better life for such people, why shoot it down.

Hey there sheeple! Just FYI in 99% of the times Autism is a vaccine injury induced by aluminum breaching the blood brain barrier using Polysorbate 80. Also, there are protocols to detoxify the brain and effectively cure Autism using heavy metals chelators such as Chlorine Dioxide . You can find more info all over Telegram

This is idiotic. Take your BS elsewhere.

Go get a booster it’s good for your sheeple heart and will rid us of your carbon

Useless conspiracy theorist idiots wouldn’t understand science if it slapped them.

Absolute crap… I was born autistic, as was every other autistic person. Autism existed before vaccines and is an evolutionary development.

$CIENCE! IT’S ALL FAKE BS shilling for pharma companies

Why is this drivel even being published? The premise upon which this nonsense is based is flawed as it is treating being autistic as something that needs to be “cured”. The people conducting the study are clearly not up to date in their understanding of what it means to be autistic as they seem to think that only 20% of autistic people’s neurology is due to genetic mutation and seems to dismiss any idea that autistic parents have autistic kids. That would,of course require them to admit that autistic people are full members of society who can have families, jobs etc.

I wonder where the funding for this nonsense came from.

You are defensive. No one is forced to do anything. Simple as hyperbaric oxygen is, it definitely has positive short term effects on cognition. Now that makes this interesting g to those open to learn. All autism is not the point… maybe some cases benefit in ways some autistic individuals will find beneficial. You don’t get to decide that for the universe. You should just step out if this thread if that’s your oersodctive.

Wow…it is quite incredible to observe, as a neurodivergent person within the spectrum, how certain individuals have such immature reactions due to a biased position. No one said that the persons under the spectrum constitute a problem, because they aren’t, indeed, we are different and wonderful in so many ways. But it is a SPECTRUM and there are persons within its range, that suffer intensely and actually would benefit from certain forms of therapy. If the quality of life ( which was the actual PROBLEM that was addressed ) can be increased for certain individuals that do face different problems and difficulties and their life, that’s great news. For your own good, learn to think outside yourself, because from what I see there can exist the tendency to negate somebody else’s reality and struggles when you are generalising.

Well said Vanilla Cat

Thank you for saying that so well.

Freddy, easy for you to say until it affects your own child and you have to help them function daily. Not all autistic people get along just fine without treatment and support and to assert that they can is privileged and ignorant.

I have 2 children on the spectrum and one full blown moderate to severe ASPERGERS. I have been a Critica Care , Clinical Care Specialty Nurse for 30 years, we came before Nurse Practioner’s , yes I am old.

I am familiar with hyperbaric therapy, obviously for lung conditions.

As one who has done much research on my Children’s Conditions, they were all adopted, 2 from Ukraine, 1 from China and my most complex child was a domestic adoption, we adopted Danny at 7 days old, he is 19. He has a rare Genetic Disorder, Partial Trisomy 3Q29 and Epilepsy, and a Chiari 1 Brain Malformation, and Cortical Visual Impairment with depth perception problems. He has severe global and cognitive delays and Autistic Spectrum, and my 24 year old from Ukraine Fetal Alcohol Disorder, Lily 13 year old daughter is the Asperger’s.

Yes super smart but cannot get a bath and get dressed in the morning without me.

So just because this has not been researched on AUTISM very well I’m this country, does not mean we have to sit around and say “ well I guess I wait 20 years and then find out it could have helped my kids tremendously, no we rally as advocates for our loved ones and say, to Teaching Learning Hospitals, John’s Hopkins University Hospital, Jefferson University Hospital, University of Penn Hospital and petition some neurological, Autism Specialist, neuropsychology , Autism Psychiatrist who treat the very hard cases of ADHD/Asperger’s.

If this study gets more oxygenated blood to the brain, which let’s face it any medical and lay person knows that is a good thing, and if the pressure aspect is studied more in detail, this could be a breakthrough!!

I could have children that can actually feel emotions and can think about other people before their own needs. Autism is just not about being more social, it is a neurodevelopmental disorder just as ADHD.

All the sensory, odd behaviors, ticks, and with life skills and social skills if their is something as simple as pressure and oxygen that can even help these kids/Adults think better and feel better and understand themselves better, we should definitely push for more research.

Most parents and family of severely affected Autistic loved ones will understand this, High Functioning Autism Adults or teens who can function in the real world obviously, I am not including them, but like my A+ child who cannot get dressed or get on the run and she is 14 in 3 months, we will take all the help we can get.

If you do not live 24/7 with Autistic, several children, you will not understand a word I am saying, I live it, breath it, have gone to Doctors for decades, and if my kids could stop picking her head, Tick, my son could stop slapping his tongue and my oldest one paces and talks to himself, I really am going to advocate for this.

I have been in special needs, Disabled child Medicaid, IEP’s, Social Security fighting my butt off for years for my kids. So the question is where are the hyperbaric chambers located, we start their first.

Just a word from a beyond experienced SN Mom and a seasoned Specialist in Critical Care, I use ICP drains, I k ow what brains pressures can do.

Let’s put this together and it either does or does not work, what’s the worst that can happen your child remains absolutely the same, well you already have that down.

The “do your own research” BS has to STOP! It’s embarrassing. You can read what’s available but you ARE NOT doing “your own research”! Ask questions, read, inquire, but that is NOT research.

Do you think that a two year old would be able to deal with this treatment? This toddler can’t stand noise.

Hospitals use a 95%oxygen/5%carbon dioxide gas mixture on their coma patients. Would using that gas mixture, instead of the 100% oxygen in this hyperbaric treatment, make it even more effective?

How long will it take. My grandson would get anxious in a confined space for too long. Is it safe for someone to be in the chamber with them like a diving bell of something?

It’s garbage. It’s another scitech fairytale.

As a member of the autistic community articles like this are just plain offensive.

Your grandson is not defective, he’s not broken, he doesn’t need fixing. I know it can be challenging but give him the right stimulus and he’ll show you how awesome he can be.

@Andy: You don’t get to speak for everyone with Autism, or those that live with and/or help them. It’s not the case of treating all Autism as a problem, so that’s a false premise to begin with; sure some people may view it that way, but not all (and I doubt most) do.

As most that have experience with it know – It is a wide-spectrum: some can function just fine in society (with or without A-typical behaviour) and occasionally with advantageous developments in areas; these people are likely to be, and feel just fine about themselves and their role in society. They are more akin to the healthy autist that’s just a bit different (neurodivergent), but is otherwise happy/healthy/thriving; certainly not a problem to be fixed, but they are also not the typical case either.

Again, not all autists are the same; some thrive, some just need a bit of help, but some are genuinely unhappy with themselves and their condition and would like help – you don’t get to deny that reality for them.

On the other side of things; some can be severely inhibited (not just in wider society, but in the day-to-day tasks required to live, let alone thrive). What about the child that wants to give/have a hug, to have that closeness, but can’t stand the feeling on their skin and gets frustrated at themselves for it (sometimes to the point of self-harm)? Or the child that’s trying desperately to process language and communicate well enough so that those not in her immediate family can also understand her?

I’m sure it’s outrageously expensive.

I think this study sounds fascinating and I can totally see it working. I would love to know where this treatment will be offered. I think its definately worth a try.

Makes sense to me, an HFA. I always felt so much better after scuba diving and hyperbaric tanks recreate the pressures experienced when scuba diving.

Hyperbaric oxygen therapy provides a higher concentration of oxygen delivered in a chamber or tube containing higher than sea level atmospheric pressure. Case series and randomized controlled trials show no evidence to support the benefit of HBOT for children with ASD. Only 1 randomized controlled trial reported effectiveness of this treatment, and those results have yet to be repeated.

I tried this for my son on 2011. He was 7 years old at the time. I went with him in the chamber and laid down for about approx 2.5 hours each day. It was horrible being confined in a capsule like chamber. No effect. Spent thousands of money.

I’m okay the way I am. I’ve lived a long and sometimes difficult life caused by “normal” people who wanted to change me, punish me, fix me, and otherwise make me well aware that I am undeserving of the benefits and respect of the mainstream. This is more of the same bullying, and these scientists can go to Hell.

Very interesting lies, unaware people who don’t understand or experience sh*t would believe, but meditation and a little weed are the only things you need to fix THE TRAUMA DISORDERS AUTISM, AND ADHD. B**** *** **** hiding that most important fact from everyone. You baby was traumatized at some point at birth during birth,that’s autism and adhd

The connection between inflammation in the brain and autism is a big deal.

It would be great if this process could be created for individual use at home somehow. I also wonder about long term treatment or maintenance.

Zac Brace, professorC, etc al.: IF autism is indeed the result of inflammation of the brain, then this is not simply an example of “neurodiversity” but of an abnormal physiological condition. For every Elon Musk, Albert Einstein or Isaac Newton in history, there are thousands (perhaps millions) of autistic souls suffering throughout their lives and failing to optimize their potential. The significant disabilities of an autism spectrum disorder for many individuals warrants continued research for viable treatments. If you, as an autistic, have a satisfying rewarding, & independent life, good for you but don’t make the mistake of believing your autism parallels that of all others. My guess is your autism is not very significant, which would make you (yes) “neurodiverse”, not disabled.

Completely agree with your statement. It’s unbelievable that some would think that just because something works for them, that everyone else should be OK too. Ridiculous, we need advancements in autistic treatment now. My niece is suffering along with her sister who doesn’t understand why her autistic sister won’t play with her. It’s sad for both children.

I see people are still trying to FIX “the Autism problem”…

It’s only neurotypicals who experience anything other than what they perceive as normal as a problem that needs fixing.

Please do some research on what autism does to a parent that has a 4 year old that is non verbal, violent to self and others, hits. Screams and is completely unable to socialize in almost any type of surroundings. Many only sleep 2 or 3 hours a night, won’t eat and refuses potty training. Then you can decide that this is not good news. Until then your negative comments are very unhelpful and you come off as unfeeling towards the suffering of thousands of kids and their parents.You ATA

Id like to know more. What exsactly does the improved brain function help with. Only social issues? What about theself harm part? Would more oxygen and pressure help with the biting himself or smashing his head in the walls? Is this only for higher functioning autstics or can it help the more severe people too. I dont care about a cure so much as I would love to see my child enjoy life more and stop hurting himself as much. I love seeing more research on autism.

Jess, you don’t get to answer for everyone on the spectrum. Maybe higher functioning people will choose not to make any changes to themselves and that should totally be supported. But some on the spectrum cannot talk, function, ever hold a job, are violent to themselves and/or others. They deserve a chance to live a better life. What happens when my husband and I die? Who will care for my son so that he can be happy and not destructive? I have seen enough abuse of seniors and disabled to know he won’t stand a chance.

No offense, but some of us have been doing this for years for our kids with autism. It’s definitely not new.

I’m not quite sure how to address this article from this so called online magazine I have to stand thoroughly disgusted there’s nothing to fix I’m fine maybe it’s everyone else and maybe we’re just fine the way we are you can just sit in your hyperbolic chamber and eat Doritos and watch TV and we’ll do important things thank you

And yet again switch posting absolute garbage. I’ve seen more accurate reporting on Fox News.

I mean for a start autism is a genetic condition, usually inherited from parents even if they don’t present with autistic traits. Our brains function just fine, quite often better than NT peers, we just tend to be a bit more focused.

If you think autistic people are defective take every mechanical, electronic or other modern gadget out of your house because I can guarantee they were either designed, engineered, coded or otherwise created by people who are probably on the spectrum.

Articles like this are on the same level as Trump suggesting intravenous UV and Klorox.

Autistic people aren’t a defective kind of neurotypical people, we are whole people in our own right, we just have a different neurotype. Before nts say I’m ‘not like their autistic child’, just know that I’m regularly non verbal, unfit to work, and at times I often self harm and sui*. I’m also able to travel alone, I’ve a great network of friends, and go to clubs, pubs, gigs, and write poetry – its not black and white. What causes autistic people is sex. Not brain injury. Animals simply can’t be autistic, at least not in the way humans are, as they have different brains, and behaviours. It’s ableist to imply otherwise and this is hack science taking advantage of vulnerable autistic people and their hopeful parents and care givers.

Not all people with autism are high functioning. Many have significant behaviors and would benefit. My son did thus when he was young and it helped. But some of the positives fade. I think you need to do treatment long term like medication.

I have autism L2 and Fibromyalgia,It has been adviced that the same treat may help relieve pain of fibro.

Gods forbid another Albert Einstein, Michelangelo, Charles Darwin, Emily Dickinson, Bill Gates, Isaac Newton, Nikola Tesla, Vincent Van Gogh, Steven Spielberg, Jerry Seinfeld, Benjamin Franklin, Beethoven, Mozart, or Jane Austen use the brains they were born with to create groundbreaking art, science, literature, music, comedy, or anything else. Far more important to make them conform to neurotypical standards of social acceptability, amirite?

Oh, and if this so-called ‘treatment’ makes Autistic kids more neurotypical, then I guess we can expect them to become ruthless social climbers who are better liars, more dispassionate about their interests, more underhanded and conniving, and more willing to accept obsolete social rules without questioning them. But at least they’ll smile and make eye contact!

You see it from the social aspect alone. As a father of a 12 years old who can not use even the potty, has no speech, keep inflicting injuries on himself can’t sleep without tranquilizer most of the time not even aware of his our existence,you will realize that it is not just about socializing and eye contact. It is about self help. You may be on the mild end but I tell you a lot more are on the severe end and needed anything that gives a glimpse of hope.

Treat inflammation thru diet.

Autism is a very generic and diverse classification. I am certainly no expert, but I have seen totally nonfunctional autism and I have seen those who are capable of self-regulating function. It is very important that we help those who are in need of a basic quality of life.

I remember seeing a research presentation for hyperbaric oxygen chamber at a biomedical conference back in 2005. It sounded promising for certain case studies, but did not offer generalized results. What is new here?

Many with autism have texture phobias, balance issues and sometimes a little ADD, ADHD, some will spin, focus too much or too little on tasks at hand, some can be more sensitive to change in environment and like to take things apart or line em up rather than put them together. The pressure room can help regulate some of that because it can give them more balance and forthcoming control over movement and therefore à less interrupted thought process, not just deflaming the brain.. great idea.

Very interesting. Don’t see any harm in giving this option to those who are on the autism spectrum, and are interested and find this method may be useful to them. I find conversation much more interesting and intellectually stimulating when talking to friends who may be on the spectrum. There may be huge positives and some negatives (like all people) as we are all different. So with that being said it’s wonderful for scientists to study everything. To ask questions. To discover. Humans are fasting, so are our brains. Let’s be supportive. What one may see as minuscule and lacking in importance could change another life for the better!

So, if we decrease systemic inflammation, would that be another avenue?

I think it’s great news to be moving in the direction of either a cure or helping with the symptoms that affect many autistic children. Where would one find more information or how are clinical studies going to be done soon? Is I let available to everyone?

Stop trying to cure different. Your eugenics is showing. Different is not bad. Rather than trying to cure our existence why not try accepting us with understanding. Your pity looks like a tombstone.

I doubt very much the same treatment can possibly cure a spectrum of symptoms of varying degree, not necessarily interrelated and which may stem from environmental factors. Are we capable of changing a person’s character; the way they think; their likes; dislikes; their empathy, and whether others value their company? Of course not!

So autism could be symptom of neuro- inflammation?

It is very discouraging to see the high functioning autistic people on here be so negative about autism treatments! Not every autistic person has a choice if they want to be fixed or not. My son whom is 14 and can’t speak and still isn’t completely potty trained with major social deficits could certainly benefit from any breakthrough or treatments offered up. So many other severely autistic children and adults in the world that deserve to be free from the frustration and anxiety of extreme sensory overload and inability to communicate.To all of the higher functioning autistic I say this….you poor tortured souls that want to bask in your autism…go for it! But for the sake of the lower functioning or severely affected autistics that need help; be freaking respectful and mindful of what you say! (In honor of my son)

There is no such thing as “high functioning autistic people”… We are all just Autistic and present differently.

We don’t need treatments or cures. We are a different neurotype… We don’t have a disease! 🙄

Stephanie Brown you read my mind!! My grandson is severely autistic… he’s almost 6, doesn’t speak & isn’t potty trained. The difference between high functioning autism & the severely autistic is so profound they might as well be to different diagnoses. High functioning autistic individuals can speak for themselves, the severely autistic need their family to speak for them. I for one think this research is promising & just because it’s brand new & not all over the media doesn’t mean it’s false. For goodness sake it takes YEARS for changes to trickle down & be put into practice in the medical field. I’m hopeful to hear studies like this are happening & hopeful there will be something in the future that can help my grandson. I know there’s no such thing as “fixing” him but something that could help his enormous anxiety, confusion & anger. Something that’ll help him feel comfortable in his own body & this world.

“High functioning” autism is not a thing. Autism is Autism, and some Autistic people present differently. Stop using outdated labels.

How do I get some for my very hard to diagnose problem with hydrocephalus to take care of my adult dependent with Autism? He says he isn’t going in there. I think I need to at least try?

How long do the effects last outside the pressure chamber? Would one need to wear a pressurized diving helmet with a 100% oxygen feed to ‘cure’ one’s autism?

I fully agree with you Zak Brace.

Autism in the severest form is what this is about not functioning autistics. It bothers me that high ASD people would even comment in here the way they have. Live with a non verbal person and meltdowns then understand we need this kind of research. But I think vitamin e works just as well with relieving swelling in brain. Please research this

This supports the findings of the first “autistic researcher,” Temple Grandin, who invented a similar idea based on pressure, she called the Squeeze Machine.(See the movie made by HBO “Temple Grandin.”)

It also mentions the immune system relation to autism that was named in 2003 to associate autism with one of the 5 immune system disorders, called Common Variable Immune System Disorder, – which I was born with in 1949, and later assessed as caused by DDT poisoning of my mother when she was pregnant. (There was a LOT of crop dusting in the rural S. TX town we lived in.)

I am so happy to hear of this development and especially for my grandson who has autism and lives in Israel. And yes. I too would prefer people were treated in a real, loving expression toward each other and there more value in that enough that we had “application” training available.

I think the article refers to capacity. As in autistic people we’ll have a higher capacity for being social. I don’t think it means that they have to be social.

How do I get hepl

How can you test an animal for autism. That ridiculous. An animal can’t talk or anything. You need to test on adult who want to be tested. Testing animals is NOTHING like on a human being it’s common sense. If there were more help out there for autism more educational HELP. Then maybe they will learn how to deal with this world because this world is having a hard time dealing with autism or any type of Special need human. That’s where these people with these paper hanging on there walls ( Bachelor degree ) should start educating others how to help the proper way for Special need people. This Article is all False hope for autism.

This article doesn’t tell how many people were studied in total. In fact, the scientific study’s title is “…a mouse”. Singular. Everyone knows you need to have a large sample study in order to gain any type of conclusion. Nothing is conclusive here, in my opinion.

What those people with autism commenting here fail to realize is that this autism of a thing is a spectrum. All of you here are not having this condition as far as am concern. My son is 12 with a case of regressive autism has lost every single skill he previously acquired and is mostly inflicting injuries on himself can’t use the toilet, is out of school, infact I doubt if he aware that he is alive. So you expect me not to worry about finding way out? Please scientists go on with anything that will better the life of these children. If my child is high functioning like you guys, I will have nothing to worry about. So you need to realize that autism is a spectrum. It affects people differently.

People sitting talking smack about us “high functioning” (which we are not and don’t use that term for this reason) autistics, clearly aren’t seeing what the problem we have is. It’s not that we don’t know that this could benefit people with very high needs. We aren’t stupid. It’s more frustrating that we’ve been forgotten when it comes to autistic studies. They don’t ask us what we need help with to better understand our issues. As someone with a non verbal son with high needs, I know the struggle, but you aren’t the victim here, they are. I have to advocate for my son but I can’t get the same respect because I’m too “normal”. “High functioning” autistics are offin themselves at an alarming rate because we can’t stand to exist in a world that doesn’t care. Have some compassion on an issue you don’t fully understand.

This begs the question: Do we have to risk getting “The Bends” just because we stim or pace? For the father of the 12 year old who cannot use the toilet, do you think they can tolerate being in the chamber for who knows how long?

Judgmental. If you have autism and are happy with it than more power to you. However for some of us it is debilitating.

I looked up one of those chambers, no way am I getting into that claustrophobic thing. Like you keep trying to “cure” us but how about just try being nice perhaps? Being understanding and non-judgemental does loads more for my social anxiety than a pressure cooker ever will. Maybe we should work on curing societys rudeness first. Also, I only skimmed the article so it’s on me probably but what exactly is an autism animal model I’ve never heard that before

Not every autistic person is able to function like you are. My daughter is essentially nonverbal and has bad behavioral episodes caused by frustration by being unable to communicate her wants and needs. Something like this, if it works as they said, would make it 100000% easier on everyone. These types of therapy aren’t for everyone and are likely best for people that are so severe on the spectrum that they can’t even function on their own. Consider yourself blessed to be able to read, write and communicate with those around you in an understandable way. You don’t understand how helpful this would be to my family. I’d have a child that can actually understand what is being said to her and can respond back in some verbal and coherent form. I’d probably cry if she suddenly went from nonverbal to talking after 40hrs of this treatment. If it effectively stopped or extremely reduced her aggression and behavior episodes, I’d be ecstatic. And who wouldn’t be?? No more worries about her hurting teachers at school or potentially someone else cause she couldn’t control herself.

Our autistic daughter is frequently made miserable by her autism. She talks about her brain not letting her do what she wants, about being constantly frustrated by the way her autism affects her subjective experience of living in her own head.

We would do anything that *she* wanted, to help her feel better in the ways that *she* feels miserable. But, so far, we’ve all found limited success.

Not all people with autism are unhappy about it. And many people with autism are unhappy because of the way society treats people with autism. But *some* people with autism are miserable *because of their autism*, in ways that their context can do nothing to improve.

Please don’t exclude my daughter’s lived experience, in your perfectly understandable desire to push back against the way that our society pathologizes autism even when it causes no intrinsic distress in the person experiencing it. For some people, autism itself hurts. 😢

Some are missing the point of these treatments. My grdaughter is autistic but she does not socialize, speak unless directed right ar her, does not really know how it is to do anything without instruction. Some people leaving comments say they are autistic but they are able to read on their own and they know what they are reading. If my grdaughter could do that, I would not even consider her autistic.

This sounds like a gimmick. My sons and I have ASD my eldest and I are verbal and my youngest is not. He has agoraphobia issues so something like this chamber may scare the heck out of him. For those talking about people trying to change them I feel miss the point. I would accept any help for my kids and myself. While our thinking and perception is unique to ourselves, our health issues are not. By the time we reach adult hood 1 in 4 of us will acquire a neurological disease like Parkinson’s or dementia. I’m assuming it’s because our gut flora is highly dysfunctional and does not work properly ( Gut theory). Also compared with the neurotypical population our lifespans are much shorter. On average classical autism patients see to live up to 39 yrs of age where as people with aspbergers level diagnosis reach to see 57 on average. I would like to see our lifespan reach somewhat of a normal frame and is riddled with less neurological problems .

How does one do about being involved in the study as a participant?? I’d be genuinely interested to join along with my daughter and see the effects on us. I’m pretty sure I’m on the spectrum and my daughter is on the moderate to severe side with behavioral and nonverbal symptoms.

How lucky so many of those responders are who are aware of their diagnosis enough to make choices in and out of relationships! But they call it a Spectrum for a reason. For those un-diagnosed or unaware in neurodiverse relationships, further that may share other dx-s unaware or untreated, relationships and families are often destroyed in time. All that aside, for those becoming aware something is wrong and trying to identify it through therapy with the many angels beginning to specialize in the higher levels of the Spectrum, these researchers findings could be miracles for the future! Jobs, friendships, marriages, children who feel abandoned, I’ve seen it all. Look into AANE and read the forum emails! Join the groups. We NEED this research even if you don’t. Keep up your good work and self care. You’re clearly doing well and must be happy.

5 mg Lexapro was like someone blew 75% of his severe autism quirks away

This isn’t a new treatment for ASD, nor is it effective. It gives people false hope and may even cause more harm than good. There is not a shred of empirical evidence proving it to be effective. If there was then it would have been all over the news by now. It’s been around for well over a decade.

So they tested it on some autistic mice and one little girl. Promising.

My son has severe autism. He suffers daily from an inability to communicate, insomnia, chronic constipation, self-injury, aggression, and anxiety. He attacked me driving down the road related colon cramps. He sometimes withholds his stool for 21 days straight. Yes, I think he would love treatment to make his life 20-30 percent better. I love him more than anything in the world; it breaks my heart to watch how much he suffers. We do not live in a high-functioning world. Of course, I would do anything to take away his pain if it worked. Unfortunately, there are minimal options for people with severe autism that take them to even a moderate level of functioning. He will need daily living support probably for the rest of his life. It absolutely kills me to think of his life once I’m dead and gone. People like my son are vulnerable to predators. I hope they find more treatments that are humane to help him.

Very well said Zac 👏

Most of the children I see – who have autism or other issues would be traumatized by being places in such a chamber for an hour x 40. “The girl”? How old was she? In what way and to what degree did autism effect her? You can put a mouse in a hyperbaric chamber – no problem . How did you place this child in one?

Autism is not a disease. Stop trying to ‘treat’ it and maybe put all that time and effort into listening to actually autistic people and putting a stop to damaging nonsense like this. Jesus christ, people with so much education behind and yet they still don’t bloody get it.

Listen to the full R’s talk about ground breaking progress to help millions… like narcissistic children indoctrinated in new age anti progressive cult think akin to the psychological operation that is the manufactured trans/lgbtq societal gender war. “Are you saying im not perfect because I wont make eye contact, cant function in society and have been a tremendous burden on my loved ones who have fought an unwinnable fight my whole life, sacrificing theirs for mine… well words are violence and you’re racist. Dont assume my dogs gender. Im fine. We are fine. Neuro diversity is good and that kid not being able to talk… that builds character?” This is wonderful and if you think otherwise or feel personally attacked… head to the nearest pressurized chamber with a shower to wash the sand out.

I bought a hyperbaric chamber over 10 years ago for my then 6yr old son who was diagnosed on the lower end of the autism spectrum. He was doing ABA treatment at the time, I asked all the doctors and specialist back then about what I was researching and they told me that it was not going to work because autism is genetic, but he wasn’t barely progressing in ABA. Even my husband was a skeptic because we were spending almost $13,000 with conversion from $US to $CAD but I didn’t care because I refused to believe that nothing could be done for my son who was progressing normally and started regressing at age 2. Within a week of usage he went from barely 10 words per day to over 100 words the therapist were witnessing. He was potty trained a month later in 1 week never haven’t had an accident since, started reading in 6 months, changes in food choices in around a year and more importantly vast improvement in his behaviour. I tried telling them what I was doing but they didn’t think that hbot was helping so I stopped talking. What does a mother know, I am a not part of a university study. My son was later doing a university study where they were tracking his eye movements. I told them about the chamber nothing. So my son has improved and my information could have helped many parents years ago but now 10 years later this is a headline

This is great news. How is your child doing now? This gives me hope ❤

Maybe the school system should be more inclusive of neurodiversity. Idk. Just a thought. We grow up thinking that school is going to make us well rounded. But they want to keep defunding anything creative. Now we got a jacked left brain and a crippled right. School is a terrible atmosphere for autistic people. Probably because we know at a cellular level that the environment is soul crushing. I don’t think an oxygen chamber would change my mind about that, but this is very Ineresting and would love to hear more.

Not everyone who is autistic is a genius like Einstein. There are autistic people who are non verbal,unlettered, into repetitive, self harming behaviour like head banging, totally dependant on others for their day to day needs and not even aware of all this as they live in their own warped world of pain. If treatments like this one can help them, it would be a huge help for their caretakers. Autism is not cute or just a slight quirk, people!

I think this is an exceptional break through and that hopefully will lead to further break throughs. My son is autistic and I’m almost certain he would like the be neuro appropriate. As a mother of an autistic child, once I leave this world I don’t know for certain how he will be cared for. If he is able to cope socially, my fears will be lessened. Is this selfish, hell yes it is but if he cannot interact in a way to express his feelings to others, will this not cause him more frustration and cause him to withdrawal even more? It most definitely will. This doesn’t mean one has to be more social it just means he would have the ability should he choose to do so. More power to those who have made this discovery. Please don’t stop researching autism. We need you desperately.

My son is 11.5 years old. He barely reads at a kindergarten level and math at grade 1. He will not use any other toilet than home and its a fight to get him to let me clean him up afterwards. For this reason, we hardly leave home. His language is limited and jarbled. He self harms and has meltdowns over the smallest of issues, mainly eats the same 3 foods and will not try anything new, has sensory issues, will not cooperate with doctors or dentists. For those of you that feel he doesn’t need “fixed”, you are greatly mistaken. He probably will never be able to function on his own or support himself. In cases like his, the entire family is evolved. If this treatment could help him in anyway, I would go to earths end to do it. I really hope this therapy proves to be effective for our family could use the help.

Hello, I have twin Autistic sons, age 20.

One twin has a job, drives and works on social settings on his own now. He’s very happy!

Sadly, his brother is VERY LONELY and non verbal. He can push a few buttons on his speaking device.

When asked what he wants??? A FRIEND!

Every person is different. Every Autistic person is different.

Let’s not knock any research the may HELP. So many studies over the past 20 years…we’ve learned how to identify (in utero) in order to abort these children.

I’m grateful for any studies that may one day help my poor, sad son.

Thank you for reading. Ruby

There always has ti be morons in the comment section giving their worthless opinion to feel important. Autism is related to inflammation in the brain which is NOT NORMAL for a human body. So for those of you saying it’s who I am, I was born this way, is completely ignorant. That’s like saying someone who develops severe joint inflammation as a child, i.e. oligoarthritis will be ok with their life and refuse treatment. It is a disability and hinders one in different and important aspects of life that are not healthy. Whether you want to admit that or not. This is breakthrough treatment and will take a few years to “perfect”. All you other pessimists can wallow in your depression because you are antisocial and believe that I’d a healthy lifestyle.

“Fixing autism” shouldn’t be the goal, but reducing brain inflammation is always a good outcome.

All these people saying, “maybe I don’t want to be ‘fixed'”fixed. Ever think of those on the spectrum that are also IDor can never live on their own or have a functional life because of it? Ever think of the CHILDREN who are able to possibly grow up without any difficulties? Many young children with autism struggle so much with communicating with others that they harm themselves, others, their environment, bc they are so frustrated they can’t communicate or their sensory system is in overdrive all the time. It is literally my profession to work part of an autism team to determine intellectual adaptive skills and then help develop a behavioral plan. I see how this impedes a child’s ability to develop socially, academically,communicatively, cognitively, etc, and it can be extreme for more than your realize. Why would we force a child to grow up with so many struggles of they don’t have to? That’s like forcing a child to battle a disease alone. Schools and parents provide intervention services ask the time for children on the spectrum, treatment like this should be no different. And btw, it’s “people WITH autism” not “autistic people”. Autism may be part of you, but it doesn’t define you. YOU define you, autism or not. It may shape you, but it is not the core of you.

Saying that this is essentially your job, is very disheartening. As someone who is autistic. (we actually prefer autistic people, not “people with autism) it should be society that changes to benefit everybody. Not us who change to benefit society. You say you see the impacts daily, yet don’t recognize you’re continuing them. Autism should *not* be likened to a disease. If you truly actually care about the people you work with. Maybe listen to us, instead of things written about us, by Allistics.

So many comment and it’s clear that 99% of them didn’t even read the introduction in the study or they wouldn’t be making the comments they are making.

While pressure therapy has an effect I’m nervous what it really means. Overwhelming the senses with a perfectly even pressure may well seem calming on the surface but lead to deeper issues involving repressed experience to stimulus. Experiments which I conduct on myself are moving in the direction of being open to stimulus rather than further isolating myself from my body. I have had some success in confronting reservoirs of anger and moving past them to a state of mind resembling comfort. On the other hand I would be very interested to test oxygen treatments as I’m sure my mind body disconnect includes shallow breathing patterns that clearly induce extra anxiety.

people in these comments are making great points about autism not necessarily needing a cure. however, the therapy also alleviates inflammation, which is helpful

My son is 21 years old and I would love the opportunity for him. He’s 21 77lbs and non verbal.

Great, more people treating autism as a disease and not something that just is. This biased study also makes the assumption that the autistic brain doesn’t work as well as the Allistics. My gods its 2022 can we stop treating autism like it’s cancer, something to be eradicated??

This is horrifying and extremely worrying to discover this and money has been spent on this?! I hope no one forces autistic people to go through this. ABA and shock therapy is torture enough.

Autism is a different neurotype not a defect! More time should be spent on accommodating autistic people’s needs and making the world suitable for all neurotypes NOT trying to make autistic people neurotypical.

It’s not trying to make us more neurotypical, it’s an attempt to treat aspects that disable us and makes daily life extremely difficult. Stop trying to get in the way of autistic people getting help.

My son is autistic, wonderfully autistic. Although he has made amazing progress and highly functional…his social skills are not. He doesn’t have friends, nor enjoy any sports. I’ll never going to cheer him up in a basketball game, he will not be invited to friends parties, perhaps he’ll never have a family of his own. Gaby doesn’t need a cure, but deserves an opportunity to enjoy these little things that we take for granted.

Funny thing is psychology today and scientific American published articles around the same time condemning this kind of thinking about autism as a disease to cure.

Maybe this can also work for narcissism

This is a great example of how a neurotypical will read a study on neurodivergents and completely miss the point of the scientific study. It is not “The mutation” as the author puts it, it is a mutation, one mutation in one person of 43 known mutations and countless unknown. The more important thing is that the autoimmune portion, which is associated with many people, is treated. Oh wait we already knew if you killed the cells in animal immune systems that those cells would stop attacking parts of the body and make everything feel better for people with autoimmune disorders.

I’d like to know more about the animal models with autistic “mutations.” How was that determined? What were their characteristics before and after “treatment.” What species? What was the duration between the treatment and social interaction? How long did it last? How were the changes measured?

It seems to me that if an animal is confined to a pressure chamber that the mere isolation itself could cause a temporary change in behavior. I would think that being in the chamber would be anxiety inducing, so being let out of it could cause a feeling of relief and maybe even joy. Change in interactions with others may just be a response to not being isolated anymore.

This study should be replicated for people with fibromyalgia who an illness known to be liked to inflimmation in the brain.

I have a autistic child I love her the way she is and I am not putting her through something like that. She already went through a lot of blood test when she was a baby we found out she also has a thyroid condition to I have to give her medicine every day just so she can manage her weight and she does not speak and does not drink a open cup and does not yous silver ware and she is still in pull ups. But I still love her very much and I would like to see her learn without a machine or anything else in that category.

Autistic children seek pressure perhaps this meets this need and helps to relieve the internal pressure they may be feeling. I do not understand why a parent would want to leave their autistic children as is, do we love them less as they are? I hope not. They want friends and relationships I cannot imagine leaving them in such distress. I have seen children at all levels of autism. The anxiety they experience is heartbreaking. We as parents have a responsibility to give them a way to cope and survive. We, the parents, do not live forever and the world is not a kind place.

STOP TORTURING INNOCENT ANIMALS. EXPERIMENT WITH YOURSELF OR YOUR FAMILY MEMBERS

Look, I can empathize with those high functioning autists here who feel that society makes life difficult for them and are butthurt at every suggestion that autism could be healed. I’m a schizoid myself and have often been wronged by ignorant expectations from normies. But this time, you are wrong and doing harm to other autists, because not everyone is as lucky as you. Autism is, as we like to repeat, a spectrum, and it’s one that also includes people where it’s definitely not society’s fault that they can’t function in everyday life and where the only voice they – unable to present their case – have is that of their relatives (whose lives they make extremely difficult). It would be great to have a treatment for that (and if that also gives you the option (no one’s forcing you) to do social stuff easier than before, all the better). Please proritize that over your personal indignation over being called disabled (which technically you are, as you lack certain common abilities, even if you’re fine with that).

You are a beautiful soul. Thank you for this well thought out, heart felt reply. I also have a brilliant one in my life who is schizophrenic. Such an amazing person. I hate when life gets hard for her. She is kind and beautiful and doesn’t deserve it. You give me a lot of hope. God Bless you. ♥️

Interesting research. I don’t think that the chamber benefits are anything new though. Autism mothers have known this for a long time and many already get hyperbaric oxygen treatment for their kids or even have their own chambers at home. Would love to see this research lead to the availability of this treatment and equipment to the average person. I’m not a fan of the negative comments here. I have two with autism, one who is brilliant like Einstein and Elon but would love relief from anxiety and fitting in better. The other has terrible co-morbids and pain that we manage in unique ways but I think the oxygen therapy would help with being non verbal. It’s not lessening them in anyway to only want the best.

Austism is not genetic. Only ~8% of what happens to us is genetically caused. Also, if you wait for a “study” you’ll wait a long time. 99% of all studies prove exactly what the entity paying for the study wants proved so they can sell what they want to make millions on. Very simple equation. It’s like a business who sells Christmas lights, winter jackets, boots, and ladders, which then does a study and lo and behold, they learn to through this ‘”study”‘ that at homes where owners have purchased abc brand Christmas lights, winter jackets, boots and ladders always have the best looking Christmas lights every single year, only when they our base abc brands. This is how a very large percent of so-called studies in America are “designed.”

I don’t get the negative comments at all. Well maybe I do. I am a father of an autistic child, he is 9, he is high functioning. Obviously most of our friends are also parents to autistic children, I’m sure everyone here knows how that goes. But some our friends kids have severe issues and parents are very hopeful for any new treatment, especially non-instrusive treatments. It’s called the spectrum for a reason. We’ve been through a lot raising our kid, he’s came SO far at this point, but some of our friends are in hell, and want nothing more than for their kids to be more manageable, and excepted outside of the home. Blogs and commercials are total BS, it’s what happens in real life that pisses us special needs parents off. Bring on as many treatments as you can to help those parents that are in need of it. Just my opinion

I for one really appreciate this kind of experimentation and hope it leads to something great. I’ve always recognized my inability to properly recognize social cues and nuances and would love to partake in something that improved that.

My brother is 63 years old. He suffers from severe autism. It was a little known term in the 1960s and 70s. As a child I had to explain to people I didnt mean he is “artistic.” If a treatment would have stopped him from beating his face bloody it would have been a God send.

The article claims that the treatment is somehow more or less harmless.

“Harmless” and/or its synonyms are what they always say until it is shown that the treatments and proposed “cures” are actually very harmful!

So, the pressurized chamber works by forcing more Oxygen into the body and therefore more Oxygen into the Autistic person’s brain, eh?! Well, what if that would also cause OXYDATIVE STRESS AND/OR HYPER-PEROXIDATION THAT ACCELERATES THOSE AUTISTIC PERSONS” BRAINS’ AGING PROCESSES AND THUS WOULD DRASTICALLY INCERASE THEIR RISK OF ORGANIC (TRUE) DEMENTIA LATER IN LIFE — EH?!

Those so-called “scientists” are a bunch of Curebie Quacks and it shows!

Those Curebie Quacks of Tel Aviv really should stay away from Autistic people in all countries and of all nationalities! Israel would do well by eventually renouncing those Curebie Quacks — along with all the other Quacks. Also, the sooner that Israel renounces all Quacks, including Curebie Quacks, the better it will be for Israel’s moral and social condition!

That young Autistic girl was a child! What they essentially did to her was to perform a medical experiment on her, using elevated levels of Oxygen as a mind-altering drug or “psychotropic medication” (to use a euphemism). I understand that a certain creep named Mengele also liked to perform experiments with children!

I for one totally despise all Curebie Quacks! Curebie Quacks are evil and dangerous, and some of them are even genuinely sadistic in what they are willing to subject Autistic people to!

By the way, the very phrase “the autistic brain” is a very disturbing expression that symbolically dehumanizes Autistic people by suggesting that our brains be somehow not really Human brains. Imagine what it’s like to be told all your life that you are not fully or truly humsn because your brain is different from that of Joe Neurotupical’s brain! You might find it to be a hopeless and humiliating situation, right?

I suspect that the little girl in the experiment is being more sociable that usual because she wants those horrible treatments to end so that she can go home to go back to living her life! Or maybe she is/was experiencing some sort of Stockholm Syndrome or Trauma Bonding or some variations of those themes! See, she’s stll very young, so that’s why she’s acting more sociable and trying to please the Neurotypical normies. The day will very probably come in which she will see those Curebie Quacks and their accomplices for what they are: Bigots Who Like To Physically And/Or Psychologically Abuse Autistic Persons Under The Guises Of Science And/Or Healing !!!

I don’t think some of you people that are against this possible future therapy are thinking outside of your ‘boxes’. If you’re autistic and you’re capable enough to be typing on a comment section of this article then you may not need as intensive a treatment program as a lot of others out there that might benefit greatly from a treatment like this in the future. My middle child is almost 7 and isn’t talking yet. The prognosis for somebody like him isn’t nearly as good as somebody like my oldest son who’s 11 and is also on the spectrum but can communicate just fine and is sharp as a tack he’s just a bit goofy(aspergers). So I guess what I’m saying is just because you might be well enough to take care of your daily needs and communicate enough to get through life, there’s tens of thousands of others out there that don’t have those abilities and may never without breakthrough treatments like these coming out eventually, and there’s hundreds of thousands if not millions of loved ones of those people that would do anything to get them the help they need to be able to satisfy their daily needs themselves after we’ve passed on. It doesn’t mean ‘neurotypical’ people see autistic people as needing ‘fixed’, it just means we love them and want them to live satisfying and self sufficient lives when we’re no longer around to make sure that happens ourselves…

I understand this is not meant to cure autism, but to improve the quality life. Most parents of autistic children would do anything to get help for their kids. I, as a mother of an autistic child, am concerned about his safety when I’m not around. My Gaby is aware of his condition, he suffers, he does not have control for his outburst, he feels horrible when people get scared if him. Why not try something that promise some hope

Articles like this give me hope! All the neurodivergent folks should stop their inputs on treatments. Clearly they are not impacted as much and doing a lot of disservice to others on the spectrum.

And most autistic kids would need to be sedated to be locked in a chamber! wouldn’t that diminish the effect? Maybe there is another way to flood the brain with oxygen?

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A new understanding: how research into autism is evolving

With an emphasis on working with autistic people to design interventions, pathways are opening up through social communication therapy and drug trials

K irsty Orton didn’t mind whether her baby was autistic or not – she just wanted her 12-month-old to enjoy being with his mummy: to notice her when she came into the room. To meet her eye when she talked to him and to be able to communicate.

“All I wanted to do was be able to connect and bond with Fynn,” she said. “But when your baby looks everywhere else in the room except at you and stays in their own zone, like you’re completely unimportant to them, it’s upsetting in a way that I struggle to put into words.”

Orton reiterates that it wasn’t about not accepting the autism that runs in her family. “I was fine with that,”’ she said. “But Fynn’s lack of communication wasn’t safe for a child and would be even less safe as he grew up: you need to be able to communicate if there’s something you don’t like.”

Orton, who lives in Kent, turned to the internet and discovered the first experimental trial of a targeted social communication therapy programme for babies as young as 10 months old with an increased chance of developing autism.

The pilot therapy – still in its infancy – aims to support and maximise the babies’ communication and brain function by focusing on the one-to-one social interaction they receive in their first year with parents or carers. It hopes to change later behaviour too, as the child ages.

Led by Prof Jonathan Green and his colleagues, and based on work funded by the Medical Research Council, the charity Autistica and the national autism team at NHS England, the project claims to improve the developmental trajectory of babies. Autistic children will still have developmental differences but will be more easily social and able to engage.

“This is going to change our concept of what autism is,” said Green, a professor of child and adolescent psychiatry at the University of Manchester. “It will redirect our attention away from an idea of intrinsic social impairments and get us into a deeper level of what autism is really about.”

Autism research has transformed in the last two to three decades. Gone are the offensive and misguided attempts to “cure” the condition – the depersonalised, medicalised approaches that treated autistic people as objects in need of treatment.

Gone too is the discredited and controversial approach of teaching autistic children to hide their autistic identities using behavioural techniques.

Green said: “Treatment, as it was traditionally given, focused on removing autistic behaviour and came to be felt by many autistic people to be an assault on their identity. A focus on genetic ‘cures’ led to concerns that the aim was to remove autism from the world.”

But despite the evolution of research into autism, there is still so much we don’t understand about the condition that continuing work is crucial.

We don’t understand, for example, how its many genetic and environmental influences give rise to so many different presentations. And importantly, despite the condition’s impact and prevalence, and the fact autistic people do not always respond to conventional treatments for mental health difficulties or may experience unacceptable side effects, there are still no specifically tailored medications.

Research is now striving to address those issues, and many others. But it is doing so by using a participatory approach: engaging with the autistic community and co-designing interventions focused on developing an empathic understanding of the autistic experience. Researchers then take that understanding and use it to devise environmental adjustments to help autistic people flourish.

Green’s therapy aims to modify aspects of the infant’s environment by helping parents understand their child’s communication style and adapt their own responses to it. Families who have taken part in his project talk of vastly improved outcomes for their children, deeper connections and transformed relationships.

He said: “What we’ve shown is that children whose parents have gone through our process are still autistic but are better adapted and happier individuals.

“We have proved that our early interventions, both iBasis and the version for older children, called Pact, change a child’s autistic profile in a way which suggests a whole range of autistic expressions – not making eye contact, repetitive behaviours, not communicating and so on – can often be seen as secondary products of environmental experience rather than necessary parts of the autism itself.

“It’s such a success that I would dearly like to see it proposed as a new model for early-years autism services nationwide.”

Green’s is far from the only project working hard to make a fundamental difference to autistic people’s life experience. Declan Murphy is leading the National Autism Project, the largest autism research network in the world. Funded by the EU and conducted across 14 countries with 48 partners, he hopes to have results as early as May 2025.

Murphy, from King’s College London, is exploring drugs to modify the brain signals in autistic individuals to, he said, modify the differences between them and neurotypicals. “This is not a cure – we don’t think like that any more,” he said.

What the drugs do is modify sensory processing, for example visual, thereby improving symptoms for issues that can cause many autistic people distress, including sensory sensitivity and irritability.

The exciting thing about Murphy’s research, part funded by the National Institute for Health Research Maudsley Biomedical Research Centre, is that he is using drugs that already have regulatory approval and are commonly used for other conditions, so if his study results are a success, the treatments could be introduced immediately.

Murphy said: “At the moment it looks like 30% to 40% of individuals have a significant brain response to this drug. If that translates into a clinical trial outcome then this could have massive implications for the lives of one-third of all autistic people, reducing pressure on services by the same proportion.”

Dr Grainne McAlonan, a clinical professor of translational neuroscience at the department of forensic and neurodevelopmental sciences and Institute of Psychiatry, Psychology and Neuroscience at King’s College London, has just started investigating a psychedelic compound – psilocybin – found in magic mushrooms .

She is looking at the serotonin pathway, which plays a key role in a range of essential functions such as sensory processing, cognition, mood and sleep. One of the most consistent findings in autism research are differences in the serotonin pathway: more than 25% of autistic people have high blood serotonin levels.

If McAlonan identifies individual differences in the brain serotonin system targeted by psilocybin, the next step will be to ask whether they can establish if there is a biological response to the drug that might be clinically useful. “Ultimately, this research may allow us to provide more personalised choices for those autistic people who want the option of a medication for their difficulties,” she said.

This was an exciting time for autism research, said Matthew Swindells, an evidence, research and evaluation manager at the National Autistic Society.

He points to other research that addresses real-life issues, including the Bridging Project led by the University of Plymouth, which uses virtual reality to reduce the autism employment gap; autism in affinity spaces , led by Queen Mary University London, which explores how young autistic people use social media platforms to engage in their interests; and Audit 50 , led by University College London, which focuses on the experiences of older autistic people, an often overlooked population.

Swindells said: “Perhaps, most importantly, researchers have moved away from stigmatising, deficit-based language and approaches. Instead, it has started to focus on the topics that really matter to autistic people. This can be seen with the emergence of more autistic lead researchers, as well as some brilliant examples of participatory approaches within research practice.”

• Neurodiversity
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• Mental health

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Autism could be seen as part of personality for some diagnosed, experts say

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New Data on Autism

Click on the following links to learn more about CDC’s data on Autism Spectrum Disorder (ASD).

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020

Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020

PowerPoint slides that can be used to present CDC’s latest data from the ADDM Network [PPTX, 5.36MB]

A highlight of the most recent scientific findings on ASD.

Higher Autism Prevalence and COVID-19 Disruptions

Informe Comunitario del 2023 sobre el Autismo

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Track your child’s development and act early if you have a concern

Additional Resources

Videos with asl interpretation, one minute autism update and the role healthcare providers can play, one minute autism update and information for parents and caregivers.

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