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FOXP2-related speech and language disorder

Description.

In addition to having problems with producing speech (expressive language), people with FOXP2 -related speech and language disorder may have difficulty with understanding speech (receptive language). Some also have trouble with other language-related skills, such as reading, writing, spelling, and grammar. In some affected individuals, problems with speech and language are the only features of the condition. Others also have delayed development in other areas, including motor skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction.

FOXP2 -related speech and language disorder appears to be a relatively uncommon cause of problems with speech and language development. The total prevalence of apraxia is estimated to be 1 to 2 in 1,000 people, and it is likely that FOXP2 -related speech and language disorder accounts for only a small portion of cases.

The genetic changes that underlie FOXP2 -related speech and language disorder disrupt the activity of the FOXP2 gene. Because forkhead box P2 is a transcription factor, these changes affect the activity of other genes in the developing brain. Researchers are working to determine which of these genes are involved and how changes in their activity lead to abnormal speech and language development.

Additional features that are sometimes associated with FOXP2 -related speech and language disorder, including delayed motor development and autism spectrum disorders, likely result from changes to other genes on chromosome 7. For example, in affected individuals with a deletion involving chromosome 7, a loss of FOXP2 is thought to disrupt speech and language development, while the loss of nearby genes accounts for other signs and symptoms. People with maternal UPD for chromosome 7 have FOXP2 -related speech and language disorder as part of a larger condition called Russell-Silver syndrome . In addition to speech and language problems, these individuals have slow growth, distinctive facial features, delayed development, and learning disabilities.

Learn more about the gene and chromosome associated with FOXP2-related speech and language disorder

• chromosome 7

Inheritance

When the condition is caused by rearrangements of the structure of chromosome 7, its pattern of inheritance can be complex and depends on the specific genetic change.

Other Names for This Condition

• Speech and language disorder with orofacial dyspraxia
• Speech-language disorder 1

Additional Information & Resources

Genetic testing information.

Genetic and Rare Diseases Information Center

Patient support and advocacy resources.

• National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

• SPEECH-LANGUAGE DISORDER 1; SPCH1

Scientific Articles on PubMed

• Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006 Nov;79(5):965-72. doi: 10.1086/508902. Epub 2006 Sep 27. Citation on PubMed or Free article on PubMed Central
• Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. Localisation of a gene implicated in a severe speech and language disorder. Nat Genet. 1998 Feb;18(2):168-70. doi: 10.1038/ng0298-168. Erratum In: Nat Genet 1998 Mar;18(3):298. Citation on PubMed
• Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001 Oct 4;413(6855):519-23. doi: 10.1038/35097076. Citation on PubMed
• MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005 Jun;76(6):1074-80. doi: 10.1086/430841. Epub 2005 Apr 22. Citation on PubMed or Free article on PubMed Central
• Morgan A, Fisher SE, Scheffer I, Hildebrand M. FOXP2-Related Speech and Language Disorder. 2016 Jun 23 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK368474/ Citation on PubMed
• Tomblin JB, O'Brien M, Shriberg LD, Williams C, Murray J, Patil S, Bjork J, Anderson S, Ballard K. Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J Speech Lang Hear Res. 2009 Oct;52(5):1157-74. doi: 10.1044/1092-4388(2009/07-0162). Citation on PubMed or Free article on PubMed Central
• Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A. 2006 Mar 1;140(5):509-14. doi: 10.1002/ajmg.a.31110. Citation on PubMed

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Genetic advances in the study of speech and language disorders

Affiliation.

• 1 Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK. [email protected]
• PMID: 20955937
• PMCID: PMC2977079
• DOI: 10.1016/j.neuron.2010.10.001

Developmental speech and language disorders cover a wide range of childhood conditions with overlapping but heterogeneous phenotypes and underlying etiologies. This characteristic heterogeneity hinders accurate diagnosis, can complicate treatment strategies, and causes difficulties in the identification of causal factors. Nonetheless, over the last decade, genetic variants have been identified that may predispose certain individuals to different aspects of speech and language difficulties. In this review, we summarize advances in the genetic investigation of stuttering, speech-sound disorder (SSD), specific language impairment (SLI), and developmental verbal dyspraxia (DVD). We discuss how the identification and study of specific genes and pathways, including FOXP2, CNTNAP2, ATP2C2, CMIP, and lysosomal enzymes, may advance our understanding of the etiology of speech and language disorders and enable us to better understand the relationships between the different forms of impairment across the spectrum.

Copyright © 2010 Elsevier Inc. All rights reserved.

Publication types

• Research Support, Non-U.S. Gov't
• Forkhead Transcription Factors / genetics
• Genetic Testing / methods*
• Genetic Variation / genetics*
• Language Disorders / genetics*
• Membrane Proteins / genetics
• Nerve Tissue Proteins / genetics
• Repressor Proteins / genetics
• Speech Disorders / genetics*
• CNTNAP2 protein, human
• FOXP1 protein, human
• FOXP2 protein, human
• Forkhead Transcription Factors
• Membrane Proteins
• Nerve Tissue Proteins
• Repressor Proteins

Grants and funding

• 075491/Wellcome Trust/United Kingdom
• 076566/Wellcome Trust/United Kingdom

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Communication Matters

Are speech disorders inherited.

There are several types of speech and language disorders that appear to be closely tied with genetics.

• As many as 50%-70% of children who have SLI also have at least one family member who struggles with the disorder.
• The incidence in families with a history of SLI is estimated at approximately 20%–40%, whereas in the general population the estimated incidence is about 4%.
• Identical twins show a higher concordance rate for language-based learning disorders compared to fraternal twins.
• There are higher rates of SLI in males compared to females.
• There are signs that genetics plays a part in at least some of these instances.
• There are higher concordance rates for identical male twins (70%) on articulation and language disorders compared to fraternal twins (46%).
• Mutations on the FOXP2 gene has been linked to family members with CAS.

Only a small fraction of all cases of speech and language disorders can be explained by genetic findings. There are many potential causes of speech and language disorders, some of which are still unknown.

Tips for Parents:

• Don’t play the blame game

Advancements in medical and scientific research reveal that you can inherit susceptibility to speech and language disorders, just like you might inherit increased risks for diabetes or other medical conditions.  

• Ask your child’s pediatrician about precautions if you received speech-language services as a child

Understanding family medical history can help you make better decisions about preventative care and speech therapy. When completing health forms, keep in mind that even though “speech disorder” might not be listed, there may be genetic tendencies in your family. Talk with the doctor about other related health issues that may be genetic.  Some early genetic findings related to communication include ties to disorders such as Autism or Fragile X Syndrome.

• Find a qualified SLP

All speech-language pathologists are trained in general knowledge regarding genetics, syndromes, and disorders. Ask the speech language pathologist if they are familiar with the most recent research if you have questions about a particular diagnosis. It can be challenging for clinical SLPs to find, access, and keep abreast of this literature, but they can work with you to ensure therapy is effective and evidence-based.

• Begin speech and language services as early as possible

Don’t write off difficulties if speech and language disorders don’t run in your family.  The importance of early intervention , or getting help for young children, cannot be emphasized enough when there may be a family history of speech and language difficulties.

https://www.ncbi.nlm.nih.gov/pubmed/21663442

https://www.ncbi.nlm.nih.gov/pubmed/23586582

https://www.asha.org/Articles/The-Role-of-Genetics-in-Assessments/

https://jslhr.pubs.asha.org/article.aspx?articleid=1781178

Tags: Speech , Language , Communication , Stuttering , talking

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Groundbreaking study connects genetic risk for autism to changes observed in the brain

A groundbreaking study led by UCLA Health has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular and genetic activity across different layers of the brain.

The study is part of the second package of studies from the National Institutes of Health consortium, PsychENCODE. Launched in 2015, the initiative, chaired by UCLA neurogeneticist Dr. Daniel Geschwind, is working to create maps of gene regulation across different regions of the brain and different stages of brain development. The consortium aims to bridge the gap between studies on the genetic risk for various psychiatric disorders and the potential causal mechanisms at the molecular level.

"This collection of manuscripts from PsychENCODE, both individually and as a package, provides an unprecedented resource for understanding the relationship of disease risk to genetic mechanisms in the brain," Geschwind said.

Geschwind's study on autism, one of nine published in the May 24 issue of Science , builds on decades of his group's research profiling the genes that increase the susceptibility to autism spectrum disorder and defining the convergent molecular changes observed in the brains of individuals with autism. However, what drives these molecular changes and how they relate to genetic susceptibility in this complex condition at the cellular and circuit level are not well understood.

Gene profiling for autism spectrum disorder, with a few exceptions in smaller studies, has long been limited to using bulk tissue from brains from autistic individuals after death. These tissue studies are unable to provide detailed information such as the differences in brain layer, circuit level and cell type-specific pathways associated with autism as well as mechanisms for gene regulation.

To address this, Geschwind used advances in single-cell assays, a technique that makes it possible to extract and identify the genetic information in the nuclei of individual cells. This technique provides researchers the ability to navigate the brain's complex network of different cell types.

More than 800,000 nuclei were isolated from post-mortem brain tissue of 66 individuals from ages 2 to 60, including 33 individuals with autism spectrum disorder and 30 neurotypical individuals who acted as controls. The individuals with autism included five with a defined genetic form called 15q duplication syndrome. Each sample was matched by age, sex, and cause of death balanced across cases and controls.

Through this, Geschwind and his team were able to identify the major cortical cell types affected in autism spectrum disorder, which included both neurons and their support cells, known as glial cells. In particular, the study found the most profound changes in the neurons that connect the two hemispheres and provide long range connectivity between different brain regions and a group of interneurons, called somatostatin interneurons that are important for maturation and refinement of brain circuits.

A critical aspect of this study was the identification of specific transcription factor networks -- the web of interactions whereby proteins control when a gene is expressed or inhibited -- that drive these changes that were observed. Remarkably, these drivers were enriched in known high-confidence autism spectrum disorder risk genes and influenced large changes in differential expression across specific cell subtypes. This is the first time that a potential mechanism connects changes occurring in brain in ASD directly to the underlying genetic causes.

Identifying these complex molecular mechanisms underlying autism and other psychiatric disorders studied could work to develop new therapeutics to treat these disorders.

"These findings provide a robust and refined framework for understanding the molecular changes that occur in brains in people with ASD -- which cell types they occur in and how they relate to brain circuits," Geschwind said. "They suggest that the changes observed are downstream of known genetic causes of autism, providing insight into potential causal mechanisms of the disease."

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Story Source:

Materials provided by University of California - Los Angeles Health Sciences . Note: Content may be edited for style and length.

Journal Reference :

• Brie Wamsley, Lucy Bicks, Yuyan Cheng, Riki Kawaguchi, Diana Quintero, Michael Margolis, Jennifer Grundman, Jianyin Liu, Shaohua Xiao, Natalie Hawken, Samantha Mazariegos, Daniel H. Geschwind. Molecular cascades and cell type–specific signatures in ASD revealed by single-cell genomics . Science , 2024; 384 (6698) DOI: 10.1126/science.adh2602

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Strange & offbeat.

Researchers find a single, surprising gene behind a disorder that causes intellectual disability

S cientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.

Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.

“We were struck by how common this disorder is" when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.

Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.

“So certainly this wasn’t something that we necessarily had a name for," he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”

Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don't code for proteins.

This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential to develop intellectual disability.

The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.

More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. But Billington said labs should be able to offer testing for this condition relatively quickly. And researchers said families should be able to find and support each other – and know they’re not alone.

“That can be incredibly comforting,” Mumford said.

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.

Scientists find a likely cause of many unexplained cases of intellectual disability: A genetic disorder

A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study.

The research, published Friday in the journal Nature Medicine, investigates the effects of mutations in the gene RNU4-2, which is found in all animals, plants and fungi.

The gene plays an important role in gene splicing — the process of cutting out portions of genetic material and stitching others together. Ernest Turro, the new study’s senior author and an associate professor of genetics and genomic science at the Icahn School of Medicine at Mount Sinai, said that in theory, mutations in the RNU4-2 gene could disrupt that splicing process, ultimately leading to abnormal brain development and intellectual disability. 

This type of disability is characterized by significant limitations to a person’s ability to learn, reason, problem-solve, communicate or socialize, and it is often indicated by a low IQ. People with the disorder might also have seizures, motor delays, small heads, short stature or low muscle mass, according to the research.

The researchers hope that genetic tests for intellectual disabilities in children can quickly be updated to screen for the mutations. 

“A considerable number of families will finally be able to have a genetic diagnosis,” Turro said. 

Dr. Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital of Philadelphia, who was not involved in the study, said that because most cases of intellectual disability don’t have a known cause, the findings could “explain a good number of cases that are currently unexplained.”

The study estimates that up to 1 in 20,000 young people might have the condition. Researchers don’t know about the life expectancy associated with the disorder, so they have not estimated its prevalence among older adults, but Turro said some people with the genetic mutation have lived into adulthood.

The estimate suggests that the condition is slightly less common than Rett syndrome, a genetic disorder that causes babies to rapidly lose coordination, speech and mobility and affects about 1 in 10,000 female infants.

But Dr. Jeffrey Gruen, a professor of pediatrics and genetics at Yale School of Medicine who was not part of the research, said mutations in the RNU4-2 gene may turn out to be less common than the study suggests. He also questioned whether everyone with the mutations would have obvious learning or developmental issues.

“There are probably tens of thousands of people around the world that carry this, but does it cause intellectual disability in those tens of thousands? I don’t know,” he said. Gruen added, however, that the discovery is significant.

Hakonarson said the mutations probably cause at least some symptoms.

“The likelihood that this is disease-causing with these variants — which are not seen, by the way, in healthy people — is almost 100%,” he said.

The findings are based on data from the National Genomic Research Library, which contains information about the genomes — the entirety of a person’s genetic code — of people in the U.K. The study looked at the genomes of more than 77,000 participants.

Historically, studies of neurodevelopmental disorders have only looked at a small portion of the genome — specifically, so-called coding genes that are involved in the production of proteins. Of the 1,427 genes linked to intellectual disability, all but nine are coding genes.

Instead, Turro and his research team looked at noncoding genes — which don’t produce proteins — in about 5,500 people with intellectual disabilities. Mutations in the RNU4-2 gene were strongly associated with that group, compared with around 46,000 people who did not have intellectual disabilities. 

“There’s no question this paper is going to provoke a lot of studies now,” Hakonarson said. “People are going to go hunting for additional genes, because there’s a lot of noncoding RNA genes.”

The mutations in the RNU4-2 gene seem to occur at random, so they most likely can’t be passed from parent to child. For that reason, getting a diagnosis could be a comfort to parents who want to have more children, Turro said.

The researchers said it will be quite some time before they figure out whether the disorder can be treated with drugs or gene therapy.

“These are an extremely tough group of disorders to tackle therapeutically,” Andrew Mumford, a co-author of the study and research director of the South West England NHS Genomic Medicine Service, said on a call with reporters.

But even without an available treatment, he added, families often benefit from having a diagnosis.

“It helps them come to terms with the impact,” he said. “Being able to tell someone, ‘Yes, we have found the cause of development disorder in your child’ is incredibly powerful.”

Gruen said the discovery could also help connect families whose children have the same genetic condition so they can share stories and offer support.

“You could get some idea of what the future holds for them,” Gruen said. “Is this something that could be remediated? Can we expect there to be language? Can we expect there to be motor issues? That’s also very, very important to know.”

Aria Bendix is the breaking health reporter for NBC News Digital.

Researchers find a single, surprising gene behind a disorder that causes intellectual disability

Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people

Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.

Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.

“We were struck by how common this disorder is" when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.

Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.

“So certainly this wasn’t something that we necessarily had a name for," he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”

Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don't code for proteins.

This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential to develop intellectual disability.

The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.

More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. But Billington said labs should be able to offer testing for this condition relatively quickly. And researchers said families should be able to find and support each other – and know they’re not alone.

“That can be incredibly comforting,” Mumford said.

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.

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