Autism Spectrum Disorder
in 2014
B.J. Freeman, PhD
Professor Emerita, UCLA School of Medicine
Alabama CASE Conference
February 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 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 firstdegree 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 underrepresented 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:
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.
Conclusion
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 .