clinical presentation of learning disorder

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INTRODUCTION

LDs have a multifactorial etiology [ 2 ]. They typically manifest as a failure to acquire reading, writing, or math skills at grade- and age-expected levels. Learning problems that are outside of these traditional core domains, such as memory problems, attention problems, processing speed deficits, and difficulty managing social interactions, are not typically considered to be LDs. However, they may affect reading, writing, and math and may also require intervention.

The clinical features of LDs will be presented here. Educational definitions for LD, the evaluation of LD, educational interventions for LD, and the role of the primary care provider are discussed separately:

● (See "Definitions of specific learning disorder and laws pertaining to learning disorders in the United States" .)

● (See "Specific learning disorders in children: Evaluation" .)

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Overview of Learning Disorders

• Symptoms and Signs |
• Diagnosis |
• Treatment |
• More Information |

Learning disorders are conditions that cause a discrepancy between potential and actual levels of academic performance as predicted by the person’s intellectual abilities. Learning disorders involve impairments or difficulties in concentration or attention, language development, or visual and aural information processing. Diagnosis includes cognitive, educational, speech and language, medical, and psychologic evaluations. Treatment consists primarily of educational management and sometimes medical, behavioral, and psychologic therapy.

Learning disorders are considered a type of neurodevelopmental disorder. Neurodevelopmental disorders are neurologically based conditions that appear early in childhood, typically before school entry. These disorders impair development of personal, social, academic, and/or occupational functioning and typically involve difficulties with the acquisition, retention, or application of specific skills or sets of information. The disorders may involve dysfunction in attention, memory, perception, language, problem-solving, or social interaction. Other common neurodevelopmental disorders include attention-deficit/hyperactivity disorder , autism spectrum disorders , and intellectual disability .

Specific learning disorders affect the ability to

Understand or use spoken language

Understand or use written language

Understand and use numbers and reason using mathematical concepts

Coordinate movements

Focus attention on a task

Thus, these disorders involve problems in reading, mathematics, spelling, written expression or handwriting, and understanding or using verbal and nonverbal language (see table Common Specific Learning Disorders ). Most learning disorders are complex or mixed, with deficits in more than one system.

Although the total number of children in the US with learning disorders is unknown, in the 2019-2020 school year, 7.3 million students (or 14% of all public school students) ages 3 to 21 in the US received special education services under the Individuals with Disabilities Education Act (IDEA) . Among students receiving special education services, 33% (or about 5% of all students) had specific learning disabilities ( 1 ). Boys with learning disorders outnumber girls 5:1. Although formal diagnoses may help some children get assistance, characterizing different capabilities as disorders risks medicalizing them as somehow pathological. The important thing is to identify people who need different or additional help learning and provide access to the assistance they need.

Learning disorders may be congenital or acquired. No single cause has been defined, but neurologic deficits are presumed to be involved whether or not other neurologic manifestations (ie, apart from the learning disorder) are present. Genetic influences are often implicated. Other possible causes include

Maternal illness or use of toxic drugs during pregnancy

Complications during pregnancy or delivery (eg, spotting, toxemia, prolonged labor, precipitous delivery)

Neonatal problems (eg, prematurity , low birth weight, severe jaundice , perinatal asphyxia, postmaturity , respiratory distress)

Potential postnatal factors include exposure to environmental toxins (eg, lead ), central nervous system infections, cancers and their treatments, trauma, undernutrition , and severe social isolation or deprivation. Adverse childhood experiences (ACEs) such as abuse and maltreatment have been particularly associated with executive function problems ( 2 ).

Common Specific Learning Disorders

General references.

1. National Center for Educational Statistics : Students with disabilities. In The Condition of Education 2021 .

2. Lund JI, Toombs E, Radford A, et al : Adverse childhood experiences and executive function difficulties in children: A systematic review. Child Abuse Negl 106:104485, 2020. doi: 10.1016/j.chiabu.2020.104485

Symptoms and Signs of Learning Disorders

Children with learning disorders typically have at least average intelligence, although such disorders can occur in children with lower cognitive function as well.

Symptoms and signs of severe learning disorders may manifest at an early age, but most mild to moderate learning disorders are not recognized until school age, when the rigors of academic learning are encountered.

Academic impairments

Affected children may have trouble learning the alphabet and may be delayed in paired associative learning (eg, color naming, labeling, counting, letter naming). Speech perception may be limited, language may be learned at a slower rate, and vocabulary may be decreased. Affected children may not understand what is read, have very messy handwriting or hold a pencil awkwardly, have trouble organizing or beginning tasks or retelling a story in sequential order, or confuse math symbols and misread numbers.

Executive function impairments

Disturbances or delays in expressive language or listening comprehension are predictors of academic problems beyond the preschool years. Memory may be defective, including short-term and long-term memory, memory use (eg, rehearsal), and verbal recall or retrieval.

Problems may occur in conceptualizing, abstracting, generalizing, reasoning, and organizing and planning information for problem solving. People with executive function problems often have difficulty organizing and completing assignments.

Visual perception and auditory processing problems may occur; they include difficulties in spatial cognition and orientation (eg, object localization, spatial memory, awareness of position and place), visual attention and memory, and sound discrimination and analysis.

Behavior problems

Some children with learning disabilities have difficulty following social conventions (eg, taking turns, standing too close to the listener, not understanding jokes); these difficulties are often components of mild autism spectrum disorders as well.

Short attention span, motor restlessness, fine motor problems (eg, poor printing and copying), and variability in performance and behavior over time are other early signs.

Difficulties with impulse control, non–goal-directed behavior and overactivity, discipline problems, aggressiveness, withdrawal and avoidance behavior, excessive shyness, and excessive fear may occur. Learning disabilities and attention-deficit/hyperactivity disorder (ADHD) often occur together.

Diagnosis of Learning Disorders

Cognitive, educational, medical, and psychologic evaluations

Clinical criteria

Children with learning disorders are typically identified when a discrepancy is recognized between academic potential and academic performance. Speech and language, cognitive, educational, medical, and psychologic evaluations are necessary for determining deficiencies in skills and cognitive processes. Social and emotional-behavioral evaluations are also necessary for planning treatment and monitoring progress.

Cognitive evaluation typically includes verbal and nonverbal intelligence testing and is usually done by a school psychologist. Psychoeducational testing may be helpful in describing the child’s preferred manner of processing information (eg, holistically or analytically, visually or aurally). Neuropsychologic assessment is particularly useful in children with known central nervous system injury or illness to map the areas of the brain that correspond to specific functional strengths and weaknesses. Speech and language evaluations establish integrity of comprehension and language use, phonologic processing, and verbal memory and can also assess pragmatic (social) language.

Educational assessment and performance evaluation by teachers’ observations of classroom behavior and determination of academic performance are essential. Reading evaluations measure abilities in word decoding and recognition, comprehension, and fluency. Writing samples should be obtained to evaluate spelling, syntax, and fluency of ideas. Mathematical ability should be assessed in terms of computation skills, knowledge of operations, understanding of concepts, and interpretation of "word problems."

Medical evaluation includes a detailed family history, the child’s medical history, a physical examination, and a neurologic or neurodevelopmental examination to look for underlying disorders. Although infrequent, physical abnormalities and neurologic signs may indicate medically treatable causes of learning disabilities. Gross motor coordination problems may indicate neurologic deficits or neurodevelopmental delays. Developmental level is evaluated according to standardized criteria.

Psychologic evaluation helps identify ADHD, conduct disorder, anxiety disorders, depression, and poor self-esteem, which frequently accompany and must be differentiated from learning disabilities. Attitude toward school, motivation, peer relationships, and self-confidence are assessed.

Diagnosis of learning disorders is made clinically based on criteria in the Diagnostic and Statistical Manual of Mental Disorders , Fifth Edition (DSM-5), and requires evidence that at least one of the following has been present for ≥ 6 months despite targeted intervention:

Inaccurate, slow and/or effortful word reading

Difficulty understanding the meaning of written material

Difficulty spelling

Difficulty writing (eg, multiple grammar and punctuation errors; ideas not expressed clearly)

Difficulty mastering number sense (eg, understanding the relative magnitude and relationship of numbers; in older children, difficulty doing simple calculations)

Difficulty with mathematical reasoning (eg, using mathematical concepts to solve problems)

Skills must be substantially below the level expected for the child's age and also significantly impair performance at school or in daily activities. Also, the difficulties should not be better accounted for by intellectual disability or other neurodevelopmental disorders.

Treatment of Learning Disorders

Educational management

Medical, behavioral, and psychologic therapy

Occasionally drug therapy

Treatment of learning disorders centers on educational management but may also involve medical, behavioral, and psychologic therapy. Effective teaching programs may take a remedial, compensatory, or strategic (ie, teaching the child how to learn) approach. A mismatch of instructional method and a child’s learning disorder and learning preference aggravates the disability.

Some children require specialized instruction in only one area while they continue to attend regular classes. Other children need separate and intense educational programs. Optimally and as required by US law, affected children should participate as much as possible in inclusive classes with peers who do not have learning disabilities.

Drugs minimally affect academic achievement, intelligence, and general learning ability, although certain drugs (eg, psychostimulants

Many popular remedies and therapies (eg, eliminating food additives, using antioxidants or megadoses of vitamins, patterning by sensory stimulation and passive movement, sensory integrative therapy through postural exercises, auditory nerve training, optometric training to remedy visual-perceptual and sensorimotor coordination processes) are unproved.

More Information

The following are English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

Individuals with Disabilities Education Act (IDEA) : A US law that makes available free appropriate public education to eligible children with disabilities and ensures special education and related services to those children

Learning Disabilities Association of America (LDA) : An organization providing educational, support, and advocacy resources for people with learning disabilities

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Developmental dyslexia: A new look at clinical features and brain mechanisms

Affiliation.

• 1 Resodys Institute and Department of Neurology, University Hospitals of Marseille, Marseille, France. Electronic address: [email protected].
• PMID: 32977895
• DOI: 10.1016/B978-0-444-64148-9.00004-1

Developmental dyslexia is the commonest "specific learning disorder" (DSM-5) or "developmental learning disorder with impairment in reading" (ICD-11). This impairment in reading acquisition is related to a defect in the installation of cognitive precursors necessary to master the grapheme-phoneme conversion. Its origin is largely genetic, but many environmental factors seem capable of modulating symptom intensity. Three types of presentation, roughly equal in occurrence, are useful to distinguish according to the associated disorders (language, attentional, and/or motor coordination), thus suggesting, at least in part, potentially different mechanisms at their origin. In adolescence and adulthood the clinical presentation tends to bear a more uniform pattern, covering a large range of severity depending on each person's ability to compensate for their deficit. Research has demonstrated dysfunction of specific brain areas during reading-related tasks (using fMRI), essentially in the left cerebral hemisphere, but also atypical patterns of connectivity (using diffusion imaging), further supplemented by functional connectivity studies at rest. The current therapeutic recommendations emphasize the need for multidisciplinary care, giving priority, depending on the clinical form, to the language, psychomotor, or neuropsychologic aspects of rehabilitation. Various training methods whose effectiveness has been scientifically tested are reviewed, emphasizing those exploiting the hypothesis of a lack of intermodal connectivity between separate cognitive systems.

Keywords: Attentional processes; Brain imaging; Dyslexia; Learning disorders; Phonology; Rehabilitation.

Copyright © 2020 Elsevier B.V. All rights reserved.

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Learning disorders: Know the signs, how to help

Learning disorders can make it hard for a child to read, write or do simple math. Know the symptoms and find out what you can do.

It can be hard to figure out that a child has a learning disorder. Some children have learning disorders for a long time before they are diagnosed. These children can have such a hard time in school that their self-esteem and drive to succeed goes down.

That's why it's a good idea for parents to know the symptoms of learning disorders. The sooner you spot the symptoms, the faster you can help your child succeed.

What is a learning disorder?

A learning disorder is present when the brain takes in and works with information in a way that is not typical. It keeps a person from learning a skill and using it well. People with learning disorders by and large have average or above-average intelligence. So, there's a gap between their expected skills, based on age and intelligence, and how they do in school.

Common learning disorders affect a child's ability to:

• Use or understand language.
• Learn other skills that don't involve words.

Reading is based on understanding speech. Learning disorders with reading often are based on a child's trouble understanding a spoken word as a mix of distinct sounds. This can make it hard to understand how a letter or letters represent a sound and how letters make a word.

Problems with short-term memory, also called working memory, can play a role.

Even when basic reading skills are mastered, children may have trouble with the following skills:

• Reading at a typical pace.
• Understanding what they read.
• Recalling correctly what they read.
• Making conclusions based on their reading.

One of the most common types of learning disorders is a reading disorder called dyslexia. It causes you to have trouble picking out different speech sounds in words and learning how letters relate to those sounds.

Writing requires complex skills that involve vision, movement and the ability to process information. A learning disorder in writing, also called dysgraphia, may cause the following:

• Slow handwriting that takes a lot of work.
• Trouble recalling how to form letters, copy shapes and draw lines.
• Handwriting that's hard to read.
• Trouble putting thoughts into writing.
• Written text that's poorly organized or hard to understand.
• Trouble with spelling, grammar and punctuation.

A learning disorder in math, also called dyscalculia, may cause problems with the following skills:

• Understanding how numbers work and relate to each other.
• Doing math problems.
• Learning basic math rules.
• Using math symbols.
• Understanding word problems.
• Organizing and recording information while solving a math problem.

Speech and Language

Children with speech and language disorders can have trouble using and understanding spoken or written words. They may have trouble:

• Reading and writing.
• Doing math word problems.
• Following directions.
• Answering questions.

A variety of speech and language disorders can affect kids. A few examples are:

• Stuttering — trouble saying words or sentences in a way that flows smoothly.
• Articulation errors — difficulty forming certain words or sounds.
• Childhood apraxia — trouble accurately moving the lips, jaw and tongue to speak.

Children with speech or language disorders often can understand and work well with visual information. They also can use visual cues well in social situations.

Nonverbal skills

Children with nonverbal learning disorders often have good basic language skills. They can excel at memorizing words too. But these children may have trouble with some skills that don't involve speaking, such as:

• Perceiving where objects are.
• Understanding abstract concepts.
• Reading people's emotions through facial expressions and other cues.
• Moving the body, also called physical coordination. This type of trouble is known as dyspraxia.
• Fine motor skills, such as writing. This issue may happen along with other learning disorders.
• Paying attention, planning and organizing, as seen in attention-deficit/hyperactivity disorders (ADHD).
• Understanding higher-level reading or writing tasks, often appearing in later grade school.

What causes learning disorders?

Things that might play roles in learning disorders include:

• Family history and genes. Having a blood relative, such as a parent, with a learning disorder raises the risk of a child having a disorder.
• Risks before birth and shortly after. Learning disorders have been linked with poor growth in the uterus and exposure to alcohol or drugs before being born. Learning disorders also have been tied to being born too early and having a very low weight at birth.
• Emotional trauma. This could involve a deeply stressful experience or emotional abuse. If either happens in early childhood, it may affect how the brain develops and raise the risk of learning disorders.
• Physical trauma. Head injuries or nervous system illnesses might play a role in the development of learning disorders.
• Poisonous substances. Exposure to high levels of toxins, such as lead, has been linked to a larger risk of learning disorders.

What are the symptoms of learning disorders?

At times, all children have trouble learning and using academic skills. But when the symptoms last for at least six months and don't get better with help from adults, a child might have a learning disorder.

The symptoms of a learning disorder in a child can include:

• Not being able to master skills in reading, spelling, writing or math at or near the expected age and grade levels.
• Trouble understanding and following instructions.
• Problems remembering what someone just said.
• Lacking coordination while walking, playing sports or doing things that use small muscles, such as holding a pencil.
• Easily losing homework, schoolbooks or other items.
• Trouble completing homework and assignments on time.
• Acting out or having defiant, angry or large emotional reactions at school. Or, acting any of these ways while doing academic tasks such as homework or reading.

Seeking help for learning disorders

Early treatment is key, because the problem can grow. A child who doesn't learn to add numbers in elementary school won't be able to do algebra in high school. Children who have learning disorders also can have:

• Anxiety about their grades.
• Depression.
• Low self-esteem.
• Less motivation.

Some children might act out to distract attention from their challenges at school.

If you suspect your child has trouble learning, you can ask the school to check for a learning disorder. Or you can get a private evaluation outside of the school system. A child's teacher, parents or guardian, and health care provider are some of the people who can request an evaluation. Your child will likely first have a general physical exam that checks for vision, hearing or other medical problems that can make learning harder. Often, a child will have a series of exams done by a team of professionals, including a:

• Psychologist.
• Special education teacher.
• Occupational therapist.
• Social worker or nurse.
• Speech and language specialist.

These professionals work together to decide whether a child's trouble meets the definition of a learning disorder. They also figure out what special-education services are needed if the child has a disorder. The team bases its decisions on:

• The results of tests.
• Teacher feedback.
• Input from the parents or guardians.
• A review of how the child does in school.

A child's health care provider also might do tests to look for mental health conditions such as anxiety, depression and ADHD . These mental health conditions can contribute to delays in academic skills.

For example, some children with ADHD struggle to finish classwork and homework. But ADHD might not necessarily cause them to have trouble learning academic skills. Instead, it may cause them to have a hard time performing those skills. Many children have ADHD along with a learning disorder.

Treatment options

If your child has a learning disorder, your child's provider or school might suggest:

• Extra help. A reading specialist, math tutor or other trained professional can teach your child ways to do schoolwork, study and get organized.
• Individualized education program (IEP). This written plan sets learning goals and describes the special-education services your child needs. Public schools develop IEPs for students whose challenges meet the school system's guidelines for a learning disorder. In some countries, IEPs are called individual education plans.
• Changes in the classroom. These are also known as accommodations. For instance, some students with learning disorders get more time to complete work or tests. They may be asked to do fewer math problems in assignments. And they may get seated near their teachers to boost attention. Some students are allowed to use gadgets. These could include calculators to help solve math problems and programs that turn text into speech you can hear. The school also might be willing to provide audiobooks to listen to while reading along with a physical copy.
• Therapy. Different types of therapy may help. Occupational therapy might improve writing problems. A speech-language therapist can help with language skills.
• Medicine. Your child's health care provider might suggest medicine to treat depression or anxiety. Medicines for ADHD may help a child's ability to focus in school.
• Complementary and alternative treatments. More research is needed to find out if these treatments work for learning disorders. They include diet changes, use of vitamins, eye exercises and a treatment that works with brain waves called neurofeedback.

Your child's treatment plan will likely change over time. You always can ask the school for more special-education services or classroom changes. If your child has an IEP , review it with the school at least every year. Your child may need less treatment or fewer learning aids over time. Early treatment can lessen the effects of a learning disorder.

In the meantime, help your child understand in simple terms the need for any other services and how they may help. Also, focus on your child's strengths. Encourage your child to pursue interests that boost confidence. Many kids with learning disorders go on to lead successful lives as adults.

Together, these tactics can boost your child's skills. They also use your child's strengths and help with learning in and outside of school.

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• Kliegman RM, et al. Neurodevelopmental and executive function and dysfunction. In: Nelson Textbook of Pediatrics. 21st ed. Elsevier; 2020. https://www.clinicalkey.com. Accessed Dec. 22, 2022.
• Von Hahn LE. Specific learning disabilities in children: Clinical features. https://www.uptodate.com/contents/search. Accessed Dec. 23, 2022.
• Kliegman RM, et al. Dyslexia. In: Nelson Textbook of Pediatrics. 21st ed. Elsevier; 2020. https://www.clinicalkey.com. Accessed Dec. 22, 2022.
• Neurodevelopmental disorders. In: Diagnostic and Statistical Manual of Mental Disorders DSM-5-TR. 5th ed. American Psychiatric Association; 2022. https://dsm.psychiatryonline.org. Accessed Dec. 23, 2022.
• Fisher P, et al. Systematic review: Nonverbal learning disability. Journal of the American Academy of Child & Adolescent Psychiatry. 2022; doi:10.1016/j.jaac.2021.04.003.
• Learning disorders. American Academy of Child & Adolescent Psychiatry. https://www.aacap.org/aacap/families_and_youth/facts_for_families/fff-guide/Children-With-Learning-Disorders-016.aspx. Accessed Dec. 23, 2022.
• Von Hahn LE. Specific learning disabilities in children: Evaluation. https://www.uptodate.com/contents/search. Accessed Dec. 23, 2022.
• Feldman HM, et al., eds. Learning disabilities. In: Developmental-Behavioral Pediatrics. 5th ed. Elsevier; 2023. https://www.clinicalkey.com. Accessed Dec. 23, 2022.
• Learning disabilities. Pediatric Patient Education. https://publications.aap.org/patiented. Accessed Dec. 23, 2022.
• Fu W, et al. A social-cultural analysis of the individual education plan practice in special education schools in China. 2020; doi:10.1080/20473869.2018.1482853.
• Patil AU, et al. Neurofeedback for the education of children with ADHD and specific learning disorders: A review. Brain Sciences. 2022; doi:10.3390/brainsci12091238.
• Language and speech disorders in children. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/developmentaldisabilities/language-disorders.html. Accessed Jan. 24, 2023.
• What are the treatments for learning disabilities? National Institutes of Health. https://www.nichd.nih.gov/health/topics/learning/conditioninfo/treatment. Accessed Jan. 24, 2023.
• Other concerns and conditions with ADHD. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/adhd/conditions.html#LearningDisorder. Accessed Jan. 24, 2023.
• Hoecker J (expert opinion). Mayo Clinic. Jan. 23, 2023.

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Adult learning disorders: Contemporary issues

Research output : Book/Report › Book › peer-review

Recent advances in neuroimaging and genetics technologies have enhanced our understanding of neurodevelopmental disorders in adults. The authors in this volume not only discuss such advances as they apply to adults with learning disorders, but also address their translation into clinical practice.

One cluster of chapters addresses developmental concerns as children and adolescents with learning disorders approach young adulthood. Experts discuss dyslexia, language-based and writing disorders, perhaps the most widely studied group of learning disorders, from the point of view of neuroimaging and genetic underpinnings. Chapters on the neuroscience of nonverbal, math and executive function disorders are also included.

Clinically-oriented chapters with case studies, recommendations for accommodation, and considerations for evaluation follow. Study of specialized populations-such as late high school students, college, medical and law students-further demonstrate how our expanded knowledge base may be applicable to clinical practice. The heterogeneity of adults with learning disorders, the complexity of their clinical presentation and co-existing disorders are addressed from both a scientific and clinical point of view demonstrating how empirical research and clinical practice inform each other.

This volume will enhance the practice of clinicians and educators working with adults with neurodevelopmental disorders, as well as providing essential current information for researchers of adults with learning disorders.

Access to Document

• 10.4324/9780203838037

Fingerprint

• Learning Disabilities Medicine & Life Sciences 100%
• learning disorder Social Sciences 85%
• Neurodevelopmental Disorders Medicine & Life Sciences 63%
• Neuroimaging Medicine & Life Sciences 49%
• Clinical Practice Social Sciences 44%
• Learning Medicine & Life Sciences 39%
• Students Medicine & Life Sciences 37%
• Empirical Research Medicine & Life Sciences 35%

T1 - Adult learning disorders

T2 - Contemporary issues

AU - Wolf, Lorraine E.

AU - Schreiber, Hope E.

AU - Wasserstein, Jeanette

N1 - Publisher Copyright: © 2008 by Taylor & Francis Group, LLC.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Recent advances in neuroimaging and genetics technologies have enhanced our understanding of neurodevelopmental disorders in adults. The authors in this volume not only discuss such advances as they apply to adults with learning disorders, but also address their translation into clinical practice.One cluster of chapters addresses developmental concerns as children and adolescents with learning disorders approach young adulthood. Experts discuss dyslexia, language-based and writing disorders, perhaps the most widely studied group of learning disorders, from the point of view of neuroimaging and genetic underpinnings. Chapters on the neuroscience of nonverbal, math and executive function disorders are also included.Clinically-oriented chapters with case studies, recommendations for accommodation, and considerations for evaluation follow. Study of specialized populations-such as late high school students, college, medical and law students-further demonstrate how our expanded knowledge base may be applicable to clinical practice. The heterogeneity of adults with learning disorders, the complexity of their clinical presentation and co-existing disorders are addressed from both a scientific and clinical point of view demonstrating how empirical research and clinical practice inform each other.This volume will enhance the practice of clinicians and educators working with adults with neurodevelopmental disorders, as well as providing essential current information for researchers of adults with learning disorders.

AB - Recent advances in neuroimaging and genetics technologies have enhanced our understanding of neurodevelopmental disorders in adults. The authors in this volume not only discuss such advances as they apply to adults with learning disorders, but also address their translation into clinical practice.One cluster of chapters addresses developmental concerns as children and adolescents with learning disorders approach young adulthood. Experts discuss dyslexia, language-based and writing disorders, perhaps the most widely studied group of learning disorders, from the point of view of neuroimaging and genetic underpinnings. Chapters on the neuroscience of nonverbal, math and executive function disorders are also included.Clinically-oriented chapters with case studies, recommendations for accommodation, and considerations for evaluation follow. Study of specialized populations-such as late high school students, college, medical and law students-further demonstrate how our expanded knowledge base may be applicable to clinical practice. The heterogeneity of adults with learning disorders, the complexity of their clinical presentation and co-existing disorders are addressed from both a scientific and clinical point of view demonstrating how empirical research and clinical practice inform each other.This volume will enhance the practice of clinicians and educators working with adults with neurodevelopmental disorders, as well as providing essential current information for researchers of adults with learning disorders.

UR - http://www.scopus.com/inward/record.url?scp=84920723053&partnerID=8YFLogxK

U2 - 10.4324/9780203838037

DO - 10.4324/9780203838037

AN - SCOPUS:84920723053

SN - 9780203838037

BT - Adult learning disorders

PB - Taylor and Francis

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4.1: Clinical Presentation – Depressive Disorders

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• Page ID 161365

• Alexis Bridley and Lee W. Daffin Jr.
• Washington State University

Learning Objectives

• Distinguish the two distinct groups of mood disorders.
• Identify and describe the two types of depressive disorders.
• Classify symptoms of depression.
• Describe premenstrual dysphoric disorder.

Distinguishing Mood Disorders

Within mood disorders are two distinct groups—individuals with depressive disorders and individuals with bipolar disorders. The key difference between the two mood disorder groups is episodes of mania/hypomania. More specifically, in bipolar I disorder, the individual experiences a manic episode that “may have been preceded by and may be followed by hypomanic or major depressive episodes” (APA, 2022, pg. 139) whereas for bipolar II disorder, the individual has experienced in the past or is currently experiencing a hypomanic episode and has experienced in the past or is currently experiencing a major depressive episode. In contrast, individuals presenting with a depressive disorder have never experienced a manic or hypomanic episode.

Types of Depressive Disorders

The two most common types of depressive disorders are major depressive disorder (MDD) and persistent depressive disorder (PDD). Persistent depressive disorder , which in the DSM-5 now includes the diagnostic categories of dysthymia and chronic major depression, is a continuous and chronic form of depression. While the symptoms of PDD are very similar to MDD, they are usually less acute, as symptoms tend to ebb and flow over a long period (i.e., more than two years). Major depressive disorder , on the other hand, has discrete episodes lasting at least two weeks in which there are substantial changes in affect, cognition, and neurovegetative functions (APA, 2022, pg. 177).

It should be noted that after a careful review of the literature, premenstrual dysphoric disorder , was moved from “Criteria Sets and Axes Provided for Future Study” in the DSM-IV to Section II of DSM-5 as the disorder was confirmed as a “specific and treatment-responsive form of depressive disorder that begins sometime following ovulation and remits within a few days of menses and has a marked impact on functioning” (APA, 2022, pg. 177).

The DSM-5 also added a new diagnosis, disruptive mood dysregulation disorder (DMDD), for children up to 12 years of age, to deal with the potential for overdiagnosis and treatment of bipolar disorder in children, both in the United States and internationally. Children with DMDD present with persistent irritability and frequent episodes of extreme behavioral dyscontrol and so develop unipolar, not bipolar, depressive disorders or anxiety disorders as they move into adolescence and adulthood.

For a discussion of DMDD, please visit our sister book, Behavioral Disorders of Childhood:

https://opentext.wsu.edu/behavioral-disorders-childhood/

Symptoms Associated with Depressive Disorders

When making a diagnosis of depression, there are a wide range of symptoms that may be present. These symptoms can generally be grouped into four categories: mood, behavioral, cognitive, and physical symptoms.

4.1.3.1. Mood. While clinical depression can vary in its presentation among individuals, most, if not all individuals with depression will report significant mood disturbances such as a depressed mood for most of the day and/or feelings of anhedonia , which is the loss of interest in previously interesting activities.

4.1.3.2. Behavioral. Behavioral issues such as decreased physical activity and reduced productivity—both at home and work—are often observed in individuals with depression. This is typically where a disruption in daily functioning occurs as individuals with depressive disorders are unable to maintain their social interactions and employment responsibilities.

4.1.3.3. Cognitive. It should not come as a surprise that there is a serious disruption in cognitions as individuals with depressive disorders typically hold a negative view of themselves and the world around them. They are quick to blame themselves when things go wrong, and rarely take credit when they experience positive achievements. Individuals with depressive disorders often feel worthless, which creates a negative feedback loop by reinforcing their overall depressed mood. They also report difficulty concentrating on tasks, as they are easily distracted from outside stimuli. This assertion is supported by research that has found individuals with depression perform worse than those without depression on tasks of memory, attention, and reasoning (Chen et al., 2013). Finally, thoughts of suicide and self-harm do occasionally occur in those with depressive disorders ( Note – this will be discussed in more detail in Section 4.3 ).

4.1.3.4. Physical. Changes in sleep patterns are common in those experiencing depression with reports of both hypersomnia and insomnia. Hypersomnia , or excessive sleeping, often impacts an individual’s daily functioning as they spend the majority of their time sleeping as opposed to participating in daily activities (i.e., meeting up with friends or getting to work on time). Reports of insomnia are also frequent and can occur at various points throughout the night to include difficulty falling asleep, staying asleep, or waking too early with the inability to fall back asleep before having to wake for the day. Although it is unclear whether symptoms of fatigue or loss of energy are related to insomnia issues, the fact that those experiencing hypersomnia also report symptoms of fatigue suggests that these symptoms are a component of the disorder rather than a secondary symptom of sleep disturbance.

Additional physical symptoms, such as a change in weight or eating behaviors, are also observed. Some individuals who are experiencing depression report a lack of appetite, often forcing themselves to eat something during the day. On the contrary, others overeat, often seeking “comfort foods,” such as those high in carbohydrates. Due to these changes in eating behaviors, there may be associated changes in weight.

Finally, psychomotor agitation or retardation, which is the purposeless or slowed physical movement of the body (i.e., pacing around a room, tapping toes, restlessness, etc.) is also reported in individuals with depressive disorders.

Diagnostic Criteria and Features for Depressive Disorders

4.1.4.1. Major depressive disorder (MDD). According to the DSM-5-TR (APA, 2022), to meet the criteria for a diagnosis of major depressive disorder, an individual must experience at least five symptoms across the four categories discussed above, and at least one of the symptoms is either 1) a depressed mood most of the day, almost every day, or 2) loss of interest or pleasure in all, or most, activities, most of the day, almost every day. These symptoms must be present for at least two weeks and cause clinically significant distress or impairment in important areas of functioning such as social and occupational. The DSM-5 cautions that responses to a significant loss (such as the death of a loved one, financial ruin, and discovery of a serious medical illness or disability), can lead to many of the symptoms described above (i.e., intense sadness, rumination about the loss, insomnia, etc.) but this may be the normal response to such a loss. Though the individual’s response resembles a major depressive episode, clinical judgment should be utilized in making any diagnosis and be based on the clinician’s understanding of the individual’s personal history and cultural norms related to how members should express distress in the context of loss.

4.1.4.2. Persistent depressive disorder (PDD). For a diagnosis of persistent depressive disorder, an individual must experience a depressed mood for most of the day, for more days than not, for at least two years. (APA, 2022) . This feeling of a depressed mood is also accompanied by two or more additional symptoms, to include changes in appetite, insomnia or hypersomnia, low energy or fatigue, low self-esteem, feelings of hopelessness, and poor concentration or difficulty with decision making. The symptoms taken together cause clinically significant distress or impairment in important areas of functioning such as social and occupational and these impacts can be as great as or greater than MDD. The individual may experience a temporary relief of symptoms; however, the individual will not be without symptoms for more than two months during this two-year period.

Making Sense of the Disorders

In relation to depressive disorders, note the following:

• Diagnosis MDD …… if symptoms have been experienced for at least two weeks and can be regarded as severe
• Diagnosis PDD … if the symptoms have been experienced for at least two years and are not severe

4.1.4.3. Premenstrual dysphoric disorder. In terms of premenstrual dysphoric disorder, the DSM-5-TR states in the majority of menstrual cycles, at least five symptoms must be present in the final week before the onset of menses, being improving with a few days after menses begins, and disappear or become negligible in the week postmenses. Individuals diagnosed with premenstrual dysphoric disorder must have one or more of the following: increased mood swings, irritability or anger, depressed mood, or anxiety/tension. Additionally, they must have one or more of the following to reach a total of five symptoms: anhedonia, difficulty concentrating, lethargy, changes in appetite, hypersomnia or insomnia, feelings of being overwhelmed or out of control, and/or experience breast tenderness or swelling. The symptoms lead to issues at work or school (i.e., decreased productivity and efficiency), within relationships (i.e., discord in the intimate partner relationship or with children, friends, or other family members), and with usual social activities (i.e., avoidance of the activities).

Key Takeaways

You should have learned the following in this section:

• Mood disorder fall into one of two groups – depressive or bipolar disorders – with the key distinction between the two being episodes of mania/hypomania.
• Symptoms of depression fall into one of four categories – mood, behavioral, cognitive, and physical.
• Persistent Depressive Disorder shares symptoms with Major Depressive Disorder though they are usually not as severe and ebb and flow over a period of at least two years.
• Premenstrual dysphoric disorder presents as mood lability, irritability, dysphoria, and anxiety symptoms occurring often during the premenstrual phase of the cycle and remit around the beginning of menses or shortly thereafter.

Review Questions

• What are the different categories of mood disorder symptoms? Identify the symptoms within each category.
• What are the key differences in a major depression and a persistent depressive disorder diagnosis?
• What is premenstrual dysphoric disorder?

8.1 Clinical Presentation

Section learning objectives.

• Identify and describe the five symptoms of schizophrenia spectrum disorders.
• Describe how schizophrenia presents itself.
• Describe how schizophreniform disorder presents itself.
• Describe how brief psychotic disorder presents itself.
• Describe how schizoaffective disorder presents itself.
• Describe how delusional disorder presents itself.
• Be able to distinguish the five disorders from one another.

8.1.1 Symptoms of Schizophrenia Spectrum and Other Psychotic Disorders

Individuals diagnosed with a schizophrenia spectrum or other psychotic disorder experience  psychosis,  which is defined as a loss of contact with reality and is manifested by delusions and/or hallucinations. These episodes of psychosis can make it difficult for individuals to perceive and respond to environmental stimuli, which can cause significant disturbances in everyday functioning. While there are a number of symptoms displayed in schizophrenia spectrum and other psychotic disorders, the presentation of symptoms varies greatly among individuals, as there are rarely two cases similar in presentation, triggers, course, or responsiveness to treatment (APA, 2013). We will now turn our attention to the five major symptoms associated with these disorders: delusions, hallucinations, disorganized speech, disorganized behavior, and negative symptoms.

8.1.1.1 Delusions

Delusions are defined as “fixed beliefs that are not amenable to change in light of conflicting evidence” (APA, 2022, pp. 101). This means that despite evidence contradicting one’s thoughts, the individual continues to fixate on a false (i.e., erroneous) belief. There are a variety of delusions that can present in many different ways:

• Grandiose delusions –  beliefs they have exceptional abilities, wealth, or fame; the belief they are God or other religious saviors
• Persecutory delusions –  beliefs they are going to be harmed, harassed, plotted, or discriminated against by either an individual or an institution
• Referential delusions –  beliefs that specific gestures, comments, or even larger environmental cues (e.g., an ad in the newspaper, a terrorist attack) are directed at them
• Delusions of control –  beliefs that their thoughts/feelings/actions are controlled by others
• Delusions of thought broadcasting –  beliefs that one’s thoughts are transparent and everyone knows what they are thinking
• Delusions of thought withdrawal –  belief that one’s thoughts have been removed by another (e.g., alien) source

The most common delusion is persecutory (APA, 2022). It is believed that the presentation of the delusion is largely related to the social, emotional, educational, and cultural background of the individual (Arango & Carpenter, 2010). For example, an individual with schizophrenia who comes from a highly religious family is more likely to experience religious delusions.

8.1.1.2 Hallucinations 

Hallucinations are defined as “perception-like experiences that occur without an external stimulus” (APA, 2022; pp. 102). Hallucinations can occur in any of the five senses including hearing (auditory hallucinations), seeing (visual hallucinations), smelling (olfactory hallucinations), touching (tactile hallucinations), or tasting (gustatory hallucinations). Additionally, they can occur in a single modality or present across a combination of modalities (i.e. experiencing both auditory and visual hallucinations). For the most part, individuals recognize that their hallucinations are not real and attempt to engage in normal behavior while simultaneously combating ongoing hallucinations.

According to various research studies, nearly half of all people with schizophrenia report auditory hallucinations, 15% report visual hallucinations, and 5% report tactile hallucinations (DeLeon, Cuesta, & Peralta, 1993). Among the most common types of auditory hallucinations are voices talking to the individual or various voices talking to one another. Generally, these hallucinations are not attributable to any one person that the individual knows. However, they are usually clear, objective, and definite (Arango & Carpenter, 2010) and occur with the same impact as normal perception (APA, 2022). Additionally, the auditory hallucinations can be pleasurable, providing comfort to the individuals; however, in other individuals, the auditory hallucinations can be unsettling as they produce commands or have malicious intent.

8.1.1.3 Disorganized Speech

Among the most common cognitive impairments displayed in individuals with schizophrenia spectrum and other psychotic disorders are disorganized speech and thoughts. More specifically, thoughts and speech patterns may appear to be  circumstantial  or  tangential . For example, individuals with circumstantial speech  may give unnecessary details in response to a question before they finally produce the desired response. While the question is eventually answered by individuals with circumstantial speech, those with tangential speech  never reach the point or answer the question, but rather jump from topic to topic. Derailment , or the illogical connection in a chain of thoughts, is another common type of disorganized thinking. The most severe form of disorganized speech is  incoherence  or word salad which is where speech is completely incomprehensible and meaningful sentences are not produced.

These types of distorted thought patterns are often related to concrete thinking. That is, the individual is focused on one aspect of a concept or thing, and neglects all other aspects. This type of thinking makes treatment difficult as individuals lack insight into their illness and symptoms (APA, 2013).

8.1.1.4 Disorganized Behavior

Psychomotor symptoms can also be observed in individuals with schizophrenia spectrum and other psychotic disorders. These behaviors may manifest as awkward movements or even ritualistic/repetitive behaviors. They are often unpredictable and overwhelming, severely impacting the ability to perform daily activities (APA, 2013). Catatonic behavior , or the decrease or even lack of reactivity to the environment, is among the most commonly seen disorganized motor behavior in schizophrenia spectrum disorders. These catatonic behaviors include:

• Negativism  –  resistance to instruction
• Mutism  –   complete lack of verbal responses
• Stupor  –  complete lack of motor responses
• Rigidity  – maintaining a rigid or upright posture while resisting efforts to be moved
• Posturing  –  holding odd, awkward postures for long periods of time

On the opposite side of the spectrum is catatonic excitement,  where the individual experiences hyperactivity of motor behavior. This can include  echolalia  (mimicking the speech of others) and  echopraxia  (mimicking the movement of others) but may also simply be manifested through excessive and/or purposeless motor behaviors.

8.1.1.5 Negative Symptoms

All symptoms discussed up until this point can be categorized as  positive symptoms or symptoms that involve the presence of something that should not be there (e.g., hallucinations and delusions) or disorganized symptoms (disorganized speech and behavior). The final set of symptoms included in the diagnostic criteria of several of the schizophrenia spectrum and other psychotic disorders is negative symptoms , which are defined as the inability, or decreased ability, to initiate actions, speech, express emotion, or feel pleasure (Barch, 2013). Negative symptoms are typically present before positive symptoms and often remain once positive symptoms remit. They account for much of the morbidity in schizophrenia but are not as prominent in the other psychotic disorders (indeed, as you will see, they are not included as a symptom in some of these other disorders). Because of their prevalence through the course of schizophrenia, they are also more indicative of prognosis, with more negative symptoms suggestive of a poorer prognosis. The poorer prognosis may be explained by the lack of effect that traditional antipsychotic medications have in addressing negative symptoms (Kirkpatrick, Fenton, Carpenter, & Marder, 2006) as well as from avolition impacting daily functioning.

There are five main types of negative symptoms seen in individuals with schizophrenia:

• Affective flattening –  reduction in emotional expression (i.e., a reduced display of emotional expression)
• Alogia  –  poverty of speech or speech content
• Anhedonia  –  decreased ability to experience pleasure
• Asociality – lack of interest in social relationships
• Avolition –  lack of motivation for goal-directed behavior

8.1.2 Types of Schizophrenia Spectrum and Other Psychotic Disorders

8.1.2.1 schizophrenia.

As stated above, the hallmark symptoms of schizophrenia include the presence of at least two of the following symptoms for at least one month: (1) delusions, (2) hallucinations, (3) disorganized speech, (4) disorganized/abnormal behavior, (5) negative symptoms. At least one of these must be (1), (2), or (3). These symptoms must create significant impairment in the individual’s ability to engage in normal daily functioning such as work, school, relationships with others, or self-care. It should be noted that the presentation of schizophrenia varies greatly among individuals, as it is a heterogeneous clinical syndrome (APA, 2022).

While the presence of active phase symptoms must persist for a minimum of one month to meet the criteria for a diagnosis of schizophrenia, the total duration of symptoms must persist for at least six months before a diagnosis of schizophrenia can be made. This six-month period can comprise a combination of active, prodromal, and residual phase symptoms. Active phase symptoms represent the “full-blown” symptoms previously described. Prodromal  symptoms are “subthreshold” symptoms that precede the active phase of the disorder and  residual  symptoms are subthreshold symptoms that follow the active phase. These prodromal and residual symptoms are milder forms of symptoms that may not cause significant impairment in functioning, with the exception of negative symptoms (Lieberman et al., 2001). Due to the severity of psychotic symptoms, mood disorder symptoms are also common among individuals with schizophrenia; however, to diagnose schizophrenia there must either be no mood symptoms or if mood symptoms have occurred they must be present for only a minority of the total duration of the illness. The latter helps to distinguish schizophrenia from a mood disorder with psychotic features for which psychotic symptoms are limited to the context of the mood episodes and are never experienced outside a mood episode.

8.1.2.2 Schizophreniform Disorder

Schizophreniform disorder is similar to schizophrenia with the exception of the length of presentation of symptoms and the requirement for impairment in functioning. As described above, a diagnosis of schizophrenia requires impairment in functioning and a six-month minimum duration of symptoms. In contrast, impairment in functioning is not required to diagnose schizophreniform disorder. While many individuals with schizophreniform disorder do display impaired functioning, it is not essential for diagnosis. Moreover, symptoms must last at least one month but less than six-months to diagnose schizophreniform disorder. In this way, the duration of schizophreniform disorder is considered an “intermediate” disorder between schizophrenia and brief psychotic disorder (which we will consider next).

Approximately two-thirds of individuals who are initially diagnosed with schizophreniform disorder will have symptoms that last longer than six months, at which time their diagnosis is changed to schizophrenia (APA, 2013). The other one-third will recover within the six-month time period and schizophreniform disorder will be their final diagnosis.

Finally, as with schizophrenia, psychotic symptoms must be experienced outside of the context of mood episodes (if mood episodes are present). Further, any major mood episodes that are present concurrently with the psychotic features must only be present for a small period of time, otherwise, a diagnosis of schizoaffective disorder may be more appropriate.

8.1.2.3. Brief Psychotic   Disorder

A diagnosis of brief psychotic disorder requires one or more of the following symptoms: (1) delusions, (2)  hallucinations, (3) disorganized speech, and (4) disorganized behavior. Moreover at least one of these symptoms must be (1), (2), or (3). Notice that negative symptoms are not included in this list. Also notice that while schizophrenia and schizophreniform disorder require a minimum of two symptoms, only one is required for a diagnosis of brief psychotic disorder. To diagnose brief psychotic disorder symptom(s) must be present for at least one day but less than one month (recall: one month is the minimum duration of symptoms required to diagnose schizophreniform disorder). After one-month individuals return to their full premorbid level of functioning. Also, while there is typically very severe impairment in functioning associated with brief psychotic disorder, it is not required for a diagnosis.

8.1.2.4. Schizoaffective Disorder

Schizoaffective disorder is characterized by two or more of the symptoms of schizophrenia (delusions, hallucinations, disorganized speech, disorganized behavior, negative symptoms) and  a concurrent uninterrupted period of a major mood episode—either a depressive or manic episode. Those who experience only depressive episodes are diagnosed with the depressive type  of schizoaffective disorder while those who experience manic episodes (with or without depressive episodes) are diagnosed with the bipolar type  of schizoaffective disorder. It should be noted that because a loss of interest in pleasurable activities is a common symptom of schizophrenia, to meet the criteria for a depressive episode within schizoaffective disorder, the individual must present with a pervasive depressed mood (not just anhedonia). While schizophrenia and schizophreniform disorder do  not  have a significant mood component, schizoaffective disorder requires the presence of a depressive or manic episode for the majority, if not the total duration of the disorder. While psychotic symptoms are sometimes present in depressive episodes, they remit once the depressive episode is resolved. For individuals with schizoaffective disorder, psychotic symptoms must be present for at least two weeks in the absence of a major mood episode (APA, 2022). This is the key distinguishing feature between schizoaffective disorder and major mood disorders with psychotic features.

8.1.2.5. Delusional Disorder

As suggestive of its title, delusional disorder requires the presence of at least one delusion that lasts for at least one month. It is important to note that any other symptom of schizophrenia (i.e., hallucinations, disorganized behavior, disorganized speech, negative symptoms) rules out a diagnosis of delusional disorder. Therefore the only symptom that can be present is delusions. Unlike most other schizophrenia spectrum and other psychotic disorders, daily functioning is not overtly impacted in individuals with delusional disorder. Additionally, if symptoms of depressive or manic episodes present during delusions, they are typically brief and represent a minority of the total duration of the disorder.

The DSM 5-TR (APA, 2022) has identified several subtypes of delusional disorder in an effort to better categorize the individual’s specific presentation of the disorder. When making a diagnosis of delusional disorder, one of the following specifiers is included.

• Erotomanic type –  the individual reports a delusion of another person being in love with them. Generally speaking, the individual whom the convictions are about are of higher status such as a celebrity.
• Grandiose type –  involves the conviction of having a great talent or insight. Occasionally, individuals will report they have made an important discovery that benefits the general public. Grandiose delusions may also take on a religious affiliation, as some people believe they are prophets or a God.
• Jealous type –  revolves around the conviction that one’s spouse or partner is/has been unfaithful. While many individuals may have this suspicion at some point in their relationship, a jealous delusion is much more extensive and generally based on incorrect inferences that lack evidence.
• Persecutory type –  involves beliefs that they are being conspired against, spied on, followed, poisoned or drugged, maliciously maligned, harassed, or obstructed in the pursuit of their long-term goals (APA, 2022). Of all subtypes of delusional disorder, those experiencing persecutory delusions are the most at risk of becoming aggressive or hostile, likely due to the persecutory nature of their beliefs.
• Somatic type –  involves delusions regarding bodily functions or sensations. While these delusions can vary significantly, the most common beliefs are that the individual emits a foul odor, that there is an infestation of insects on the skin, or that they have an internal parasite (APA, 2022).
• Mixed type  – there are several themes of delusions (e.g., jealousy and persecutory)
• Unspecified type  – these are delusions that don’t fit into one of the categories above (e.g., referential delusions without a persecutory or grandiose nature to them).
• Bizarre content –  delusions that are clearly not plausible (in one’s culture) and do not stem from ordinary experience (e.g., the delusion that one is an alien or vampire).

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Committee to Evaluate the Supplemental Security Income Disability Program for Children with Mental Disorders; Board on the Health of Select Populations; Board on Children, Youth, and Families; Institute of Medicine; Division of Behavioral and Social Sciences and Education; The National Academies of Sciences, Engineering, and Medicine; Boat TF, Wu JT, editors. Mental Disorders and Disabilities Among Low-Income Children. Washington (DC): National Academies Press (US); 2015 Oct 28.

Mental Disorders and Disabilities Among Low-Income Children.

• Hardcopy Version at National Academies Press

8 Clinical Characteristics of Autism Spectrum Disorder

• DIAGNOSIS AND ASSESSMENT

Autism, or autism spectrum disorder (ASD), first described in 1943 ( Kanner, 1943 ), is a neurodevelopmental disorder characterized by impairments in social interaction and communication, along with repetitive or stereotyped patterns of behaviors and often restricted interests.

The diagnosis of ASD is typically made during childhood, based on comprehensive behavioral evaluations by specialists in child psychiatry or psychology or by those in behavioral and developmental pediatrics. ASD was not officially recognized until DSM-III, the third edition of the Diagnostic and Statistical Manual of Mental Disorders , in 1980 ( APA, 1980 ; Kanner, 1943 ). The current version of the DSM introduced in 2013, DSM-5, is the first edition of the DSM to use the term “autism spectrum disorder.” This version does not distinguish subtypes such as “autistic disorder” or “Asperger syndrome,” and the diagnostic criteria specified in the DSM-5 for ASD are somewhat narrower than used previously. DSM-5 criteria require that a child has persistent impairment in social communications and interactions across multiple contexts as well as restricted or repetitive patterns of behavior, interests, or activities; that symptoms should present in early childhood and cause significant functional impairments; and that the impairments are not better explained by intellectual disability ( APA, 2013 ).

DSM-5 introduced major change by eliminating subcategories and providing an overall approach to the diagnosis of ASD ( Volkmar et al., 2014a ). Concerns about individuals losing services prompted the addition of a “grandfather clause” in DSM-5 granting continued diagnostic assignment to cases previously diagnosed under DSM-IV.

Although experienced clinicians can diagnose ASD by the age of 2 years in many affected children, and while the diagnosis of ASD can usually be made very clearly by age 3, population-based studies in the United States have shown the median age at first diagnosis of ASD to be older than 5 years ( Maenner et al., 2013 ; Shattuck et al., 2009 ). The process of obtaining a diagnosis of ASD often requires a referral from a pediatrician or other primary care provider to a clinical center or care provider experienced in ASD diagnosis. Once a referral has been made, families can face wait times of 6 to 12 months or longer for the first available appointment. At each step of the diagnostic process, financial and cultural barriers can delay the identification of ASD, especially for socioeconomically disadvantaged children ( Magaña et al., 2013 ).

Several sets of practice guidelines are now available to provide guidance on screening and diagnosis ( McClure, 2014 ). Current practice guidelines suggest that there should be a comprehensive assessment involving structured observations of the child's behavior; extensive parental interviews; testing of cognition, speech and language, hearing, vision, and motor function; a physical examination; and a collection of medical and family history information ( Millward et al., 2008 ; Nye and Brice, 2005 ; Reichow et al., 2010 , 2013 ). The assessment may also involve genetic testing, neuroimaging, or other studies.

Early screening is recommended beginning at 18 months and during the preschool years. In general, ASD is an early-onset disorder, but early screening may miss a minority of cases where parents report regression after some period of normal development; in other instances symptoms may be missed on early screening in more cognitively able children. Early diagnosis and assessment are important to optimize the potential for a good outcome ( McClure and Melville, 2007 ; Volkmar et al., 2014a ). A family history of ASD (e.g., in a sibling) should prompt higher levels of clinical concern.

Clinical evaluation is indicated to look for symptoms and signs of associated conditions (notably seizure disorder or epilepsy). Although sometimes associated with single-gene conditions (notably fragile X and tuberous sclerosis), the genetics of ASD appears to be very complex, with potentially many different genetic pathways being associated with ASD ( Geschwind, 2011 ). The role of genetic factors in etiology has been increasingly recognized in recent years, although genetic testing remains limited, apart from certain well-recognized single-gene conditions. More extensive genetic testing may be indicated based on clinical presentation or family history. Guidelines for genetic testing are now available ( Schaefer et al., 2013 ).

A range of tests are used to assess developmental levels and the need for occupational and physical therapy. A number of screening and diagnostic instruments are available (see Volkmar et al., 2014a ). It is common for the assessment of cognition and communication to reveal multiple areas of difficulty. Unusual styles of learning in ASD lead to problems in generalization, which can cause difficulty with adaptive skills. Therefore, the ability to apply knowledge to real-world settings should be assessed.

• DEMOGRAPHIC FACTORS AND DURATION OF THE DISORDER

ASD is an early-onset disorder. The average age of diagnosis is 3.1 years old, and the diagnosis of ASD is made with great certainty by age 3 ( Mandell et al., 2005 ). Prior to that age, social-communication difficulties may be present but the characteristic behaviors and restrictions may not clearly emerge until around age 3. The combination of mandates for services in early intervention programs and school with greater public awareness and mandates for screening has led to earlier identification ( McClure, 2014 ; Reichow et al., 2010 ).

By the time they reach school age, children with ASD become more socially aware, but behavioral problems may also increase. In adolescence some individuals make major gains in functioning, while a smaller number lose skills. Improved access to treatment and earlier case detection appear to be associated with a significant shift in outcome, with many more adults now achieving independence and more attending college and becoming employed, although even with good treatments, not every individual makes major gains ( Howlin et al., 2014 ). Some individuals may not need services as adults and may blend into the general population ( Fein et al., 2013 ).

Overall, the most predictive factors for a diagnosis of ASD relate to the presence of communicative and nonverbal abilities before the age of 5 ( Howlin et al., 2013 ). However, as Kanner and Eisenberg (1953) noted, these issues are complex, with some children making major gains, and others experiencing losses during the developmental period, particularly in adolescence (see Howlin et al., 2014 , for a discussion).

ASD is more common in males by a factor of 3 to 5. In lower-IQ groups gender difference is much less pronounced, while in high-IQ cases it is much more pronounced. There is some suggestion that higher rates of impairment (overall) in females may reflect a higher genetic risk ( Howlin et al., 2014 ).

Race/Ethnicity

Epidemiologic studies in the United States consistently report a lower prevalence of ASD among black non-Hispanic and Hispanic children than among white non-Hispanic children ( Baio, 2012 ). Studies based on reporting by schools reveal marked and unexpected variations in rates, suggesting possible reporting bias. Parental beliefs about diagnosis and health care, cultural barriers, and discrimination may affect diagnosis and prevalence estimates by race/ethnicity ( Kogan et al., 2009 ; Magaña et al., 2012 ; Mandell et al., 2009 ).

Socioeconomic Status

From the very first reports of ASD, the data have suggested that ASD is mainly a disorder among children whose parents have high levels of education and occupational status; however, this was likely due to the barriers to accessing diagnostic and therapeutic services experienced by children from low-income families ( Bhasin and Schendel, 2007 ; Cuccaro et al., 1996 ; Durkin et al., 2010 ; Kanner, 1943 ; Wing, 1980 ). In this respect, ASD differs from other forms of childhood mental disorder or developmental disability, which tend to be associated with socioeconomic disadvantage rather than advantage. In a paper published in 1980, Wing argued that children of highly educated parents are more likely to have the resources to be aware of and to obtain a diagnosis of ASD ( Wing, 1980 ). One indication that Wing was correct is a recent study from Sweden, a country with universal health care and access to comprehensive diagnostic and treatment services, which found no excess of ASD among children of high socioeconomic status and in fact found that the prevalence of ASD decreased slightly with increasing socioeconomic status ( Rai et al., 2012 ). Cultural issues have received little attention. While ASD symptoms appear similar in cases from around the world, there may be major differences in the way the disorder is conceptualized and treated ( Magaña and Smith, 2013 ; Mandell et al., 2009 ; Rogers et al., 2012 ; Volkmar et al., 2005 ). It does appear that within the United States there may be some tendency for more affluent families to seek a diagnosis of ASD to ensure more access to services and also that families from poverty may be less aware of the condition and their school districts less likely to assign an ASD diagnosis ( Mandell and Novak, 2005 ; Mandell et al., 2009 ; Pinborough-Zimmerman et al., 2012 ).

• COMORBIDITIES

Issues of comorbidity are complex, particularly in individuals without spoken language (Matson and Nebel-Schwalm, 2006). One thing that is clear, however, is that ASD is associated with an increased risk of intellectual disability ( Simonoff et al., 2008 ; White et al., 2009 ). Furthermore, epilepsy co-occurs with as many as 20 percent of cases, with peak periods of onset in both early childhood and adolescence ( Volkmar et al., 2014b ). It remains unclear whether the poor outcomes are the result of a common underlying cause for both epilepsy and ASD or the result of side effects from anticonvulsant treatments ( Howlin et al., 2014 ). For school-age children with ASD, attentional difficulties and irritability are relatively common ( Volkmar et al., 2014a ). By adolescence, particularly for more cognitively able individuals, the risk for mood disorders (particularly depression) and anxiety-related problems increases. The association of ASD with anxiety and mood problems in older individuals appears to be relatively strong.

In younger children, ASD raises the risk for nonfatal and fatal injuries to double the rates in the general population. Bolting (running away) is a frequent problem and cause of injury or death. Having ASD at least doubles the risk of being bullied, which can exacerbate other issues such as anxiety and depression (Cappadocia et al., 2011). In the past, there was a strong co-occurrence of ASD and intellectual disability (ID). While early diagnosis and intervention has decreased this association, a minority of patients still have co-occurring diagnoses of ASD and ID. Given that ASD is a disorder involving communication, it is unusual (but not impossible) for a child with ASD to exhibit comorbid language conditions.

• FUNCTIONAL IMPAIRMENT

Functional (adaptive) skills are invariably impaired in ASD and are an important impediment to adult self-sufficiency ( Paul et al., 2004 ). These functional impairments are typically highlighted in practice guidelines as a major focus of intervention ( McClure, 2014 ; Volkmar et al., 2014a ). Deficits may be severe and persistent and result from problems in the overall learning style associated with ASD as well as from difficulties in generalization. Functional impairments stem from the basic and fundamental deficits in social interest and motivation that causes problems with learning, organization, multitasking, and generalization (executive functions). These difficulties in organizational and executive function lead to major problems in dealing with new situations as well as with situations that require the generalization of knowledge across settings. Even for the most cognitively able individuals with ASD, problems with the generalization of knowledge into real-life situations are a source of considerable impairment, and deficits in functional skills have frequently been included as a defining feature of the condition ( Klin et al., 2007 ).

A number of excellent assessment instruments of adaptive and functional skills are available and have consistently documented deficits in multiple areas of functioning, such as social skills, communication, and activities of daily living ( Goldstein et al., 2009 ). In spite of the availability of assessment instruments, the severity of impairment in autism remains complex, because expressions of the syndrome change with age, particularly in early childhood and in adolescence, where some individuals make major gains while others lose skills. Furthermore, no single convention exists for classification of difference in ability levels or severity of impairment. For example, the terms “high functioning” or “low functioning” are frequently used, but primarily refer only to cognitive ability or IQ. In reality, many individuals with high IQ have severe impairment in adaptive skills. For example, an individual may have an IQ above 140, but the social skills of a 4-year-old child ( Klin et al., 2007 ). Further complicating the assessment of severity is that major differences in various sub-indices of IQ can exist, with differences up to 70 points ( Volkmar et al., 2005 ). As a practical matter, the severity of impairment in multiple areas, regardless of IQ, is the major source of disability.

• TREATMENT AND OUTCOMES

Early approaches to treatment in ASD focused on psychotherapy, but over time it became apparent that children with ASD were more likely to improve with structured, special education interventions ( Bartak et al., 1977 ). Other important contributions to more effective treatment included the advent of the Education for All Handicapped Children Act, which mandated education as a right for children with special needs, including those with ASD ( NRC, 2001 ), and the official recognition of ASD in 1980. The early interest in behavioral approaches has now expanded into the field of applied behavior analysis, which has repeatedly been shown to be an effective evidence-based approach ( Smith, 2010 ). A review by the National Research Council on early intervention for ASD reported a range of programs and models, each of which had some empirical support; the literature on evidence-based treatments has not increased substantially in subsequent years ( NRC, 2001 ).

A number of meta-analyses and reviews of the available treatment literature are now available ( Reichow et al., 2010 ). It is important to note that the treatment literature is of variable quality and that noteworthy gaps remain. However, this literature has been increasingly included in the various official guidelines for practice ( McClure, 2014 ).

Comprehensive treatment programs fall into four types. One group of treatment programs employs a developmental approach, notably the Rogers “Denver” model and the less-well-researched Greenspan “Floortime” approach ( Greenspan et al., 2008 ; Rogers et al., 2012 ). A second group of treatment programs is more behaviorally focused and includes most of the programs employing applied behavior analysis ( Smith et al., 2007 ). A third group of treatment programs is exemplified by the state-wide TEACCH model used in North Carolina, which is more eclectic in nature ( Schopler et al., 1995 ). A fourth group of treatment programs uses a combination of behavioral and developmental approaches, as exemplified by pivotal response therapy ( Koegel and Koegel, 2006 ).

Generally, the goal of all treatment programs is to minimize the disruptive effects of ASD on learning, while maximizing more normative processes. Treatment goals change with age and developmental level but typically include a focus on social, language, and adaptive (self-help) skills. Educational and behavioral treatments draw on the expertise of a range of professionals. Specialists in communication focus on expanding the range of the child's communicative ability beyond vocabulary. Children who lack verbal language can be helped through augmentative strategies (e.g., manual signing, picture exchange, and new computer-based technologies). Behavioral techniques help with management of disruptive behavior and facilitate learning. Given the unusual learning style of children with ASD, a focus on the generalization of skills into functional activities is important. Social skills teaching is an important aspect of treatment programs ( Reichow et al., 2012 ).

Pharmacological interventions may be very helpful with behavioral problems and comorbid conditions, but they do not affect the central social and communicative aspects of ASD. The newer atypical neuroleptics can help with the management of agitation and stereotypic behaviors, and other agents can help with issues of mood, anxiety, and attention ( Volkmar et al., 2014a ); however, side effects of medication sometimes limit their usefulness ( McDougle et al., 2005 ). For more cognitively able individuals, medication use can be combined with supportive psychotherapy, and several models of treatment are available ( Scarpa et al., 2013 ).

A number of studies, including independent meta-analyses, have been conducted of treatment effects in ASD. The available literature varies, reflecting major differences in research that arise from a large number of different professional disciplines involved in the treatment of ASD. A review of five meta-analyses by Reichow reported effect sizes for psychosocial, early intensive behavioral interventions ranging from 0.38 to 1.19 for IQ and 0.3 to 1.09 for adaptive behavior ( Reichow et al., 2012 ). A meta-analysis of cognitive-behavioral therapy for children by Sukhodolsky and colleagues, reported effect sizes of 1.19 and 1.21 for clinician- and parent-reported outcome measures of anxiety, respectively. A review of five randomized controlled trials of social skills training reported treatment effect sizes for a number of outcomes, including an effect size of 0.47 for improved social competence and 0.41 for friendship quality ( Reichow et al., 2012 ). Similar effect sizes have been shown for pharmacological treatments. Arnold and colleagues and McCracken and colleagues reported effect sizes of 1.2 for behavioral irritability treated with atypical neuroleptics like Risperidone. A large number of alternative/complementary treatments have been proposed for ASD and are widely used by parents ( Levy and Hyman, 2015 ). These typically lack an empirical foundation, but it is important that service providers be aware of their use.

It is important to emphasize that, with earlier diagnosis and intervention, many (though not all) children make substantial gains. More and more individuals now seek post–high school education or vocational training, or both ( Howlin et al., 2013 ; Vanbergeijk et al., 2008 ).

• The diagnosis of ASD requires a comprehensive behavioral and medical evaluation by experts, including a clinical evaluation and the use of disorder-specific screening and diagnostic instruments. The role of genetic testing is limited, apart from a small number of well-characterized single-gene conditions.
• The age of onset for ASD is in early childhood. Individuals diagnosed with ASD are likely to have functional impairments throughout their lives; however, the severity of these impairments can vary greatly, from profound to relatively mild. The diagnosis of ASD can be made in most children with great certainty by age 3.
• ASD is more common in males by more than three- to fivefold.
• Unlike other mental disorders, ASD is diagnosed less often in children living in poverty, although most population studies indicate equal rates among children living in low-income households, suggesting disparities in access to early identification.
• ASD is associated with an increased risk of intellectual disability.
• Significant impairment usually persists into adolescence and adulthood.
• Early diagnosis and the application of evidence-based interventions increase the likelihood that a child will have better outcomes and reduced functional impairments. The goals of treatment are to minimize disruptive effects and to improve adaptive functioning.
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• Cite this Page Committee to Evaluate the Supplemental Security Income Disability Program for Children with Mental Disorders; Board on the Health of Select Populations; Board on Children, Youth, and Families; Institute of Medicine; Division of Behavioral and Social Sciences and Education; The National Academies of Sciences, Engineering, and Medicine; Boat TF, Wu JT, editors. Mental Disorders and Disabilities Among Low-Income Children. Washington (DC): National Academies Press (US); 2015 Oct 28. 8, Clinical Characteristics of Autism Spectrum Disorder.
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