Autism Spectrum Disorder in 2014

Autism Spectrum Autism Spectrum Disorder in 2014Disorder in 2014

B.J. Freeman, PhDProfessor Emerita, UCLA School of Medicine

Alabama CASE ConferenceFebruary 25, 2014

What are Autism Spectrum Disorders?

ASDs are heterogeneous syndromes with multiple etiologies.

Currently the view is that some factor or combinations of factors act through one or

more mechanisms to produce a disruption in brain development that leads to the

behavioral syndrome of ASD.

ASDs are one of neurodevelopmental disorders manifest in early childhood

characterized by impairments of personal, social, academic/occupational functioning.

ASDs are characterized by persistent deficits in social communication and social interactions across multiple

contexts, including deficits in -

• social reciprocity

• nonverbal communication used for social interaction

• skills in developing, maintaining & understanding relationships

• restricted, repetitive patterns of behaviors, interests or activities

Because symptoms vary across development & may be masked by

compensatory mechanisms & supports in place, diagnostic criteria may be met on HISTORICAL INFORMATION, but

must result in impairment.

• Today applied behavior analysis (ABA) is the standard of practice for treatment

of ASD and has been found to alter brain development.

Advantages of DSM-5

New Category of Autism Spectrum Disorder includes previously separate diagnoses of -

•Autistic Disorder•Asperger’s Disorder•Childhood Disintegrative Disorder•Pervasive Developmental Disorder, NOS

• Research indicates a continuum from Mild to Severe

• Criteria specifies a range of severity as well as describing the individual’s overall developmental status.

• Provides a dimensional assessment to improve sensitivity & specificity of criteria.

• Is a more descriptive definition that can be individualized; helps clinicians make individualized diagnosis.

• Allows diagnosis of comorbid conditions.

• DSM-5 definition of Intellectual Disability should make it easier to qualify persons with scores on IQ tests in the average range for services.

ASD Diagnosis

•Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). No age of onset criteria.

• Symptoms cause clinically significant impairment in social, occupational or other important areas of current functioning.

• Disturbances are not better explained by intellectual disability or global developmental delay.

• Intellectual disability (ID) and ASD frequently co-occur; to make comorbid diagnoses of ASD and ID, social communication should be below that expected for general developmental level.

Individuals with a well-established diagnosis of Autistic Disorder,

Asperger’s Disorder or PDD-NOS, should be given the diagnosis of Autism

Spectrum Disorder.

Individuals who have marked deficits in social communication, but whose

symptoms do not otherwise meet criteria for ASD should be evaluated for social (pragmatic) communication disorder.

In DSM-5, diagnosis is specified -

• with/without intellectual impairment;

• with/without accompanying language impairment;

• if associated with a known medical or genetic condition or environmental factor;

• if catatonic (Gerard);

• and if present, psychiatric diagnosis (e.g., ADHD)

Severity Specifiers

• Indicates level of support required: Level 1, requires support; Level 2, requires substantial support; or Level 3, requires very substantial support

• Rated separately for social communication and restricted repetitive behaviors.

• For description, not diagnosis• Severity can vary with context; can and

will change overtime• Descriptors should not be used to

determine eligibility for services• Allows diagnosis to be individualized

Diagnostic Specifiers

•With or without intellectual disability:

It is important to understand variability and uneven patterns of intellectual functioning.

Verbal and nonverbal skills should be assessed independently.

For persons with limited language, use untimed nonverbal tests for potential.

• With or without language impairment:

Include description or qualifier (e.g., no intelligible speech, phrased speech)

Receptive language usually lags behind expressive language and should be listed separately.

• Associated with known medical or genetic condition or environmental factors; or with neurodevelopmental or mental disorders:

Usually a gap between intellectual & adaptive skills.

May present with motor clumsiness.

Disruptive/challenging behaviors common.

Adolescents & adults prone to anxiety and/or depression.

Prevalence

•Current research indicates 1% of population is affected.

•Prevalence of ASDs is estimated at 1:88 children (1:50 boys)

Who is Affected?•All races, ethnic groups & socioeconomic levels•Boys are 4 times more likely to develop ASDs than girls (currently 1 in every 4 males)•Most recent estimates in the U.S. show 1.5 million people with ASDs and a new case diagnosed nearly every 20 minutes.

• Much progress has been made in diagnosis.

• Symptoms are evident at 8-12 months.

• CDC recommends screening for ASD at 18 and 24 months.

Increase in Prevalence:• Changes in diagnostic criteria• Development of concept of a wide autism

spectrum• Different methods used in studies• Growing awareness and knowledge• Development of treatment programs• Possible true increase in number of

children being born

Autism is the only dramatically rising disorder while intellectual disability, Down syndrome and cystic fibrosis

remain relatively stable.

Development & Course

•Always note age & pattern of onset symptoms•Usually seen in first 12 months•Small group shows deterioration in functioning•Loss of skills merits further medical evaluation (Rett’s disorder)

• Not a degenerative disorder and it is typical for learning and compensation to continue throughout life.

• Improvement is the natural course when intervention is provided early.

• May come to attention at any age and is more difficult to diagnose as people age and must rely more on history.

Risk & Prognostic Factors

•Best established prognostic factors for individual outcome is presence/absence of intellectual disability in the past.

•Important only in distinguishing ID from non-ID, but diagnosis must be made cautiously.

• Functional language by age 5 is a good prognostic sign.

• Comorbid epilepsy is usually associated with greater intellectual impairment and lower verbal ability.

Environmental Factors

•Many health problems are due to both genetic & environmental factors; this is likely the case with ASDs.

•Researchers are currently exploring whether viral infections & air pollutants, for example, play a role in triggering autism.

Prenatal and post-natal brain and nervous system development may be

disrupted by environmental exposure at lower levels than would affect adults.

There may be critical windows of susceptibility both prenatally and in early

childhood during which the effects of exposure to environmental contaminates,

depending on dose and timing, can be significantly more severe and lead to permanent and irreversible disability.

Known in utero environmental risk factors:•Rubella•Thalidomide•Misoprostal •Ethanol •Valporic acid (VPA)

Nonspecific risk factors :

•Advanced parental age - mother & father•Low birth weight - prematurity•Fetal exposure to Valporate•Lack of folic acid

Genetic Factors•Heritability estimates range from 37%-90% based on twin studies.•15% of cases are known genetic mutation•Even when genetic cause present, not full penetrant•Remainder of cases appear to be polygenic with possibly 100s of genetic loci making small contributions.

ASD is considered to be one of the most inheritable complex genetic disorders in

psychiatry.

Despite its high heritability, autism has a heterogeneous etiology with multiple

genes and chromosomal regions involved.

Today autism represents a disruption in early brain development.

Genetic Causes of AutismGenetic Causes of Autism

Autism has no single known cause. Given the complexity of the disorder, the range of autistic disorders, and the fact

that no two children with ASDs are alike, there are likely many causes.

These may include genetic causes.

• A number of genes appear to be involved in autism.

• Some may make a child more susceptible to the disorder; others affect brain development or the way the brain cells communicate.

• Still others may determine the severity of symptoms & overlap with other disorders.

• Each problem in genes may account for a small number of cases, but taken together, the influence of genes may be substantial.

• Some genetic problems seem to be inherited, whereas others happen spontaneously.

• In families who have one child with autism, the risk of having another child with autism is 3%-8%.

• The concordance of autism in monozygotic twins is 60%.

• A number of studies have found that first-degree relatives of children with autism also have increased risk of ASDs.

Culture Related Issues

•All races, ethnic groups and socioeconomic levels are affected.

•Cultural & socioeconomic factors may affect age of diagnosis.

•Late diagnosis & under-diagnosis occurs in minorities.

Ethnicity and socio-economic status do not consistently influence prevalence of ASDs. However, minorities are under-represented in treatment centers and

tend to be diagnosed later.

According to the CDC, between 2002 and 2008 there was a 110% increase in

Hispanic children, a 91% increase in Black non-Hispanic children, and a 70% increase in White non-Hispanic children

diagnosed with ASDs.

On average, African-American children are diagnosed 18 months later than White

children.

Mandell (2002) reported African-American children were less likely (by 2.6 times) to receive an autism diagnosis on the first

visit to a specialty office.

Gender Related Issues

•Diagnosed 4:1 in males

•Girls may present differently & remain undiagnosed

•Currently overall prevalence is 1:88; 1:50 boys

Functional Consequences

Persons with ASDs have difficulty learning from the environment and require intensive early intervention.

Differential Diagnosis:•Rett Syndrome•Selective mutism•Language disorders & social (pragmatic) communication disorder•Intellectual disability (Intellectual developmental disability without ASD)•Stereotypic motor disorder•Attention-deficit/hyperactive disorder•Schizophrenia

Comorbidity:•Intellectual disability•Language impairments•Psychiatric symptoms•70% have one comorbid psychiatric diagnosis, 40% have two or more, particularly as persons age.•When diagnostic criteria for comorbid condition is met, that diagnosis is made as well.

Intellectual Disability

Intellectual Developmental Disorder• IQ is no longer king

• Functional diagnosis

• Most misunderstood of neurodevelopmental disorders

Diagnostic Criteria:

Intellectual disability (intellectual developmental disorder) is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social and practical domains.

The following criteria must be met:

A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing.

B. Deficits in adaptive functioning that result in failure to meet developmental and socio-cultural standards for personal independence and social responsibility. Without ongoing support, adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation and independent living, across multiple environments, such as home, school, work and community.

C. Onset of intellectual and adaptive deficits during the developmental period.

Current severity (based on adaptive functioning, not IQ) is specified as Mild,

Moderate, Severe or Profound.

The various levels of specifiers are defined based on the basis of adaptive

functioning and not IQ scores, because it is adaptive functioning that determines

the level of supports required. Moreover, IQ measures are less valid in the lower

end of the IQ range. An IQ score has high variability – tests do not measure all aspects of intelligence.

Diagnostic Features:• Based on both clinical assessment and

standardized testing of intellectual and adaptive functioning

• Clinical training required to interpret test results

• Highly discrepant individual subtest scores may make overall IQ score invalid

• Decreased emphasis on IQ score

DSM-5 states: IQ test scores are approximations of conceptual functioning and may be

insufficient to assess reasoning in real-life situations and mastery of practical skills.

• Deficits in adaptive functioning refer to how well a person meets community standards of personal independence and social responsibility in comparison to others of similar age and sociocultural backgrounds.

• Adaptive functioning involves adaptive reasoning in 3 areas: Conceptual, Social, Practical

• Multiple sources of information should be used to assess both intelligence and adaptive functioning in multiple contexts.

• May be difficult to assess in controlled settings (e.g., prisons).

• Must be impaired in one area of adaptive functioning.

• Deficits in adaptive functioning must be directly related to intellectual impairments.

• Onset during the developmental period.

Associated Features:•Heterogeneous condition with multiple etiologies.•Lack of communication skills may result in behavioral difficulties.•Gullibility, lack of risk awareness may result in victimization, fraud, unintentional criminal involvement, false confessions, risk for physical/sexual abuse.•Can have co-occurring mental disorder.

Prevalence:•Overall population prevalence of approximately 1%; prevalence rates vary by age. •Severe ID is approximately 6 per 100.

Development & Course:

•Onset in developmental period.

•Age & characteristic depends on etiology and severity of brain dysfunction.•DIAGNOSIS BASED ON HISTORY AND PRESENTATION, AND CLINICAL JUDGMENT.

Diagnostic assessments need to determine whether improved adaptive skills are the

result of a new learned behavior or are a function of the supports in place.

Cultural Issues:•ID occurs in all races and cultures•Must be evaluated against a person’s cultural norms

Risk & Prognostic Factors

Genetic & physiological:

•Prenatal factors include chromosome abnormalities and gene variations, inborn errors of metabolism, brain malformation and environmental factors (e.g., alcohol).

• Perinatal factors – variety of labor/delivery related events leading to encephalopathy.

• Postnatal factors include hypoxic ischemia injury, traumatic brain injury, infections, seizures, severe and chronic social deprivation.

Gender Related Issues:

•Mild ID - 1.6:1 male:female

•Severe ID - 1.2:1 male:female

•Some sex-linked disorders (Fragile X)

Diagnostic Markers

Comprehensive evaluation includes:•Intellectual capacity•Adaptive functioning•Identifying genetic/non-genetic etiologies•Evaluation for associated medical conditions (seizures, cerebral palsy)•Evaluation for co-occurring mental and emotional disorders

Differential Diagnosis:

•Major and mild neurocognitive disorders

•Communication; specific learning disorders

•Autism Spectrum Disorder

Comorbidity:

•High with other neurodevelopmental disorders

•3-4 times higher than general population

Relationship of ASD to ID: Relationship of ASD to ID: Fact or Fiction? Fact or Fiction?

1. The majority of children with ASDs are intellectually disabled.

2. IQs obtained in children with ASDs show the same properties as those obtained in other children.

3. IQs of children with ASDs fail to change markedly even when their social responsiveness increases.

4. Motivation alone does not account for low scores obtained by ASD children on IQ tests.

5. Untestable ASD children may respond to tests designed for younger children.

6. Even high-functioning people with ASDs may have profound deficits in executive functioning - inhibition, working memory, planning, cognitive flexibility, verbal fluency.

7. Persons with ASDs tend to have selective memory deficits – memory for facts versus events.

8. Children with ASDs may have a selective cognitive deficit involving use of language.

9. The IQ of a child with an ASD can be reliably measured and is the best predictor of outcome.

Why Use IQ Tests?

In spite of these difficulties, developmentally-based assessments serve

as the basis on which decisions on diagnosis, eligibility for services and

program planning are made.

Observations of a child’s unique strengths and weaknesses have a major impact on the

design of effective intervention.

The use of IQ tests is a standardized method of determining a child’s strengths

and weaknesses.

It should be interpreted cautiously and simply sets the background for the

remainder of the assessment.

The primary goal of cognitive assessment is to provide a framework for clinical

observations by describing the child’s overall cognitive development.

However, assessment of overall cognitive functioning is only the first step.

The purpose is not to generate an overall score.

The purpose is to generate a child’s profile of strengths and weaknesses,

which can be used to maximize his/her learning potential and optimize learning.

UPDATE:

American Academy of Child Adolescent Psychiatry (AACAP) 2014

Guidelines for Evaluation and Treatment of Autism Spectrum Disorders

Evaluation

Recommendation 1:

The developmental assessment of young children and the psychiatric assessment of all children should routinely include questions about autism spectrum disorder symptomology. (Clinical Standard)

Recommendation 2:

If the screening indicates significant autism spectrum disorder symptomology, a thorough diagnostic evaluation should be performed to determine the presence of ASD. (Clinical Standard)

Recommendation 3:

Clinicians should coordinate an appropriate multi-disciplinary assessment of children with ASD. (Clinical Standard)

Treatment

Recommendation 4:

The clinician should help the family obtain appropriate, evidenced-based and structured educational and behavioral interventions for children with ASD. (Clinical Standard)

Treatment should include:

1.ABA

2.Communication

3.Educational

Not Effective:

•Auditory Integration Therapy

•Sensory Integration Therapy

•Touch Therapy/Massage

Interventions with Limited Support:

•Development Individual Difference (DIR)

•Floortime

•Social Communication, Emotional Regulation and Transactional Support (SCERTS)

•Play and Language for Autistic Youths (PLAY)

4. Medications after other treatment only.

ConclusionConclusion

The autism landscape continues to change quickly and dramatically, with new insights into the biological bases of ASDs,

the expansion of international research collaborations, and new policies directed

at identifying and managing this neurodevelopmental syndrome.

Because ASD is universal across all demographic and social groups, with a

frequency of about 1 in 50 children, pediatricians can expect to have several

children in their practice with ASDs.

Thus, the American Academy of Pediatrics now recommends a three-pronged effort

for early identification of autism:

• Traditional developmental surveillance at every preventive care visit;

• General developmental screening at 9, 18, and 24 or 30 months;

• Universal autism-specific screening of all children at 18 and 24 months regardless of whether there are any concerns.

Early identification will lead to improved outcomes for children affected by

Autism Spectrum Disorder.

We now know what helps people affected by Autism Spectrum Disorders.

Research indicates that all persons with ASDs benefit from intensive,

developmentally appropriate educational services based on the principles of ABA.

The question is - why isn’t every child receiving appropriate

treatment?

References:

•American Academy of Child & Adolescent Psychiatry (AACAP) (2014)

•American Psychiatric Association (APA), DSM-5 (2013)

•Volkmar, F. et al (2014) Practice parameters for the assessment of children and adolescents with Autism Spectrum Disorder. Journal of the American Academy of Child & Adolescent Psychiatry .