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Diagnosis of Autism Spectrum Disorders

Article  in  Pediatric Annals · October 2011

DOI: 10.3928/00904481-20110914-05 · Source: PubMed

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Diagnosis of Autism Spectrum Disorders
CM E EDUCATIONAL OBJECTIVES
1. Know the evolving behavioral
definition of autism spectrum
disorder (ASD).
2. Provide diagnostic criteria for
autism spectrum disorders high-
lighting clinical presentation and
course, comorbid disorders, and
behaviors common to ASD.
3. Determine an evidence-based
approach to assessment, including
tools that are ideal for use in the
primary care setting.
Both authors are affiliated with Uni-
versity of Washington and Seattle Chil-
dren’s Hospital, Seattle, WA. Karen Toth,
PhD, is Assistant Professor, Department
of Psychiatry and Behavioral Sciences.
Gary Stobbe, MD, is Clinical Assistant
Professor, Departments of Neurology
and Psychiatry and Behavioral Sciences.
Address correspondence to: Karen
Toth, PhD, 4800 Sand Point Way NE,
Seattle, WA 98105; email: karen.toth@
seattlechildrens.org.
Drs. Toth and Stobbe have disclosed
no relevant financial relationships.
doi: 10.3928/00904481-20110914-05
T
he Centers for Disease Con-
trol and Prevention estimates
that one in 110 children in the
United States has autism spectrum
disorder.1 During the past decade, the
prevalence of autism has increased by
almost 300%.1
This appears to be caused largely
by the loosening criteria for autism
spectrum disorder (ASD) in the Di-
agnostic and Statistical Manual of
Mental Disorder (DSM), third edition
(DSM-III) to fourth edition (DSM-IV),
and increased public awareness; for
example, the US special education
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4010Toth.indd 488
CM E
Karen Toth, PhD; and Gary Stobbe, MD
classification for autism was not intro-
duced until 1994.2
ASDs affect more males than fe-
males, with an average male-to-female
ratio of 4.3:1. For children who have
both autism and intellectual disability
the male-to-female ratio is closer to
2:1, and the ratio without intellectual
disability is closer to 5.5:1.2
Autism is a highly heritable disorder
with a complex inheritance pattern. A
polygenic, multifactorial inheritance
model is the current best fit for under-
standing the genetics of non-syndromic
forms of autism (ie, most cases).
Besides mapping a large number of
risk alleles, researchers are also inves-
tigating new mutations and epigenetic
mechanisms (genetic imprinting or epi-
mutations that trigger the underlying
susceptibility).3
Other risk factors and markers be-
ing researched include infection and
immune dysfunction; neuropeptides,
such as oxytocin and vasopressin; en-
docrine and obstetric factors; and expo-
sure to drugs, metals, and other toxins.2
Numerous independent investigations
have failed to confirm an association
between the measles, mumps, and ru-
bella (MMR) vaccine specifically, or
thimerosal exposure to environmental
mercury, and autism.
DSM-IV DIAGNOSTIC CRITERIA
Autistic Disorder
Autistic disorder is characterized by
impairments across three domains of
functioning: reciprocal social interaction;
communication; and restricted, repetitive,
and stereotyped interests and behaviors.
For a diagnosis of autistic disorder ac-
cording to DSM-IV, there must be at least
six total symptoms with impairments
in all these domains: at least two social
symptoms; one communication symp-
tom; and one symptom of repetitive, ste-
reotyped interests and behaviors. Symp-
toms must be present by age 3 and not
better accounted for by either Rett disor-
der or childhood disintegrative disorder.
Asperger’s Disorder
The primary diagnostic distinction
between Asperger’s disorder and autistic
disorder is the absence of early language
delays (ie, single words by age 2, phrases
by age 3) and no clinically significant de-
lays in cognitive or adaptive functioning.
Language anomalies, including deficits in
pragmatic language and use of stereotyped
language, are not regarded as delays in this
context. There must be at least two or more
social symptoms and at least one symptom
in restricted, repetitive, and stereotyped in-
terests and behaviors for the diagnosis of
Asperger’s disorder. However, if a child
meets the criteria but exhibits six or more
symptoms across all three domains of
functioning, the more appropriate diagno-
sis is autistic disorder. In fact, there is little
empirical support for a diagnostic distinc-
tion between higher functioning individu-
als with autistic disorder and those with
Asperger’s disorder in clinical presenta-
tion or outcome.4 DSM-5 is planning to
eliminate Asperger’s disorder as a distinct
diagnostic category.
Pervasive Developmental Disorder-
Not Otherwise Specified
This diagnostic category of Perva-
sive Developmental Disorder-Not Oth-
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erwise Specified (PDD-NOS) is used
more often than the other ASD diagno-
ses,5 but is the most poorly defined. It
is reserved for individuals who demon-
strate clinically significant symptoms
across at least two domains of function-
ing but do not meet criteria for either au-
tistic disorder or Asperger’s disorder. A
recent comparison of individuals based
on autism symptomatology showed that
those with PDD-NOS exhibit a distinct
pattern of symptoms in social reciproc-
ity and communication, but not repeti-
tive and stereotyped behaviors.5
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© iStockphoto.com
PROPOSED DSM-5 CHANGES
Changes proposed for DSM-5 include
combining autistic disorder, Asperger’s dis-
order, and PDD-NOS into a single category
of autism spectrum disorder.6 Another diag-
nostic category — social communication
disorder (SCD) — will be used to describe
pragmatic communication disorders once
ASD has been ruled out.
Additionally, the three symptom do-
mains in DSM-IV will merge into two: 1)
social communication; and 2) restricted
interests and repetitive behaviors. Sen-
sory symptomatology, currently con-
sidered when evaluating children for
an ASD, will now be specified in the
diagnostic criteria, per proposed DSM-
5 changes. New specifiers and modifiers
are also being proposed, such as “ASD
with intellectual disability.”
Diagnostic Stability
When children are diagnosed by ex-
pert clinicians between the ages of 2
years to 9 years, the diagnosis of autistic
disorder was reliable and stable.7 Some
children diagnosed with PDD-NOS by
experts at age 2 years moved to a diag-
nosis of autistic disorder by age 9 years,
indicating that the diagnosis of PDD-
NOS is less stable over time than autistic
disorder. Still other studies have shown
that instead of moving to autistic disor-
der, some children with early diagnoses
of PDD-NOS move off the spectrum en-
tirely at follow-up.8
CLINICAL PRESENTATIONS
Social Impairments
Primary deficits in social attention
and social reciprocity characterize all
three categories of ASD. Impairments in
looking at others and orienting to name
have been shown to distinguish infants
with autism from those with typical
and delayed development as early as
8 months of age.9 Joint attention (eg,
pointing to show something to another,
following another’s eye gaze, or pointing
to an object), which develops typically
between 9 and 12 months of age and is
important for language development, is
impaired in children with autism. Other
early impairments occur in motor imita-
tion, social imitative play (eg, peek-a-
boo), visual tracking and disengagement
of visual attention, among others.10
Communication Impairments
Language and communication skills
development in individuals with autism is
often delayed and/or atypical. As many as
40% of individuals never acquire spoken
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language,11 while others exhibit unusual
prosody of speech (eg, too loud, too quiet,
odd intonation or stress, too fast or too slow);
echolalia (ie, repeating words and phrases
either immediately after hearing them or
after a delay; includes repeating phrases
from movies), pronoun reversal (eg, say-
ing “you want” instead of “I want”), and
pragmatic communication impairments,
most often noticeable in open-ended con-
versation (eg, difficulties with staying on
topic, responding to nonverbal cues, and
reciprocity). Symbolic play, which is also
related to language and communication
abilities, is often absent, delayed, or repeti-
tive in children with autism.
Restricted, Repetitive, Stereotyped
Behaviors and Interests
Symptoms in this domain are quite of-
ten absent or go unnoticed in very young
children with autism (ie, age 2 years and
younger), but may emerge later. There-
fore, the absence of these symptoms early
on does not preclude an ASD diagnosis.
Common behaviors in this category in-
clude motor stereotypies (ie, repetitive
movements or utterances), both with the
hands and the whole body (eg, repeti-
tive hand flapping, finger flicking, spin-
ning, pacing); repetitive use of objects or
preoccupation with parts of objects (eg,
opening and closing the door on a toy ve-
hicle, lining up objects, turning a car over
and focusing on spinning the wheels);
unusual interests (eg, interest in washing
machines) and/or all-consuming inter-
ests (eg, a young child who has books on
trains, videos on trains, toy trains, talks
only about trains, etc.); and compulsive,
rigid, ritualistic behaviors (eg, wanting
things to be in a certain order, needing to
drive the same route every day, insisting
on sameness, etc).
Onset and Course
Historically, autism was thought to
emerge either early in the first year of life,
or in the second year after a period of fairly
typical development and then a regression
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of previously acquired skills (still reported
in roughly 20% to 30% of cases).12 Newer
research suggests a number of patterns of
emergence, including cases that involve
early symptoms and later regression, as
well as cases of developmental plateau,
and failure to progress.13
The earliest emerging symptoms of au-
tism (ie, evident by 8 to 12 months) include
failure to respond when called by name
(lack of social orienting, not orienting to
faces), joint attention impairments (not
showing or pointing out objects to others),
and fewer vocalizations, among others.
Parents do not always notice these early
symptoms, particularly for firstborn babies,
but they can be assessed quickly and easily
within the context of a medical visit.
Outcome
Outcomes for individuals with autism
have been measured in many different
ways, using variables such as cognitive
ability, vocation, relationships, adaptive
functioning, and the ability to live inde-
pendently. The two best predictors of
positive outcomes for youth with autism
are IQ above 50 and spoken language by
age 5 years.14 Clearly, short-term out-
comes improve with earlier diagnosis
and treatment15 However, more than half
of all individuals with ASD have poor
long-term outcomes, based on occupa-
tion, friendships, and adaptive living
skills. Adaptive functioning often is im-
paired, even in children and adolescents
with higher IQs. Adaptive skills, howev-
er, are not generally a focus of treatment
for these higher-functioning children.
Little is known regarding the out-
come of adults with ASD. Most studies
have focused on functional outcomes
and quality of life and have demon-
strated persistent difficulties in multiple
domains even among “higher-function-
ing” ASD individuals (ie, those with IQs
above 70).16 At the same time, as many
as 10% to 20% of individuals can make
substantial gains to the point of no longer
meeting criteria for an autism spectrum
diagnosis.13 Much research remains to
be done regarding adult outcomes, in-
cluding on how intensive early behav-
ioral intervention affects outcomes.
PSYCHIATRIC COMORBIDITIES
Intellectual Disability
A decade ago, two-thirds of chil-
dren with autism also had intellectual
disability (mental retardation). Cur-
rent estimates place that number at
40% to 55%,2 because of increased
awareness, expansion of the diagnos-
tic criteria, and a greater number of
individuals identified with more sub-
tle but still impairing symptoms.
Attention-Deficit/Hyperactivity
Disorder
Attention-Deficit/Hyperactivity Dis-
order (ADHD) is highly comorbid with
autism; as many as 55% of children with
autism can also meet diagnostic criteria
for ADHD.17
Anxiety Disorders
Symptoms of anxiety are common in
children with autism at all levels of func-
tioning and are often related to sudden
changes in routine and a lack of predict-
ability in daily living. Overall, an anxiety
diagnosis has been found in 42% to 55%
of youth with autism, which most com-
monly includes simple phobias, separa-
tion anxiety, and generalized anxiety.18
Mood Disorders
Individuals who are higher-function-
ing are particularly prone to developing
symptoms of depression, which can in-
clude irritability, aggressive behaviors,
and isolation. Roughly 10% to 24% of
youth with ASD meet criteria for major
depression.17
Tourette’s Syndrome
Approximately 11% of children with
autism also meet diagnostic criteria for
Tourette’s syndrome.19
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Sensory-Based Behaviors
Characterized as either heightened
sensitivity (to light, sound, or touch)
or sensory-seeking (eg, prolonged
oral, visual, or tactile exploration;
seeking deep pressure on one’s body),
time spent on these behaviors can be
significant and cause considerable im-
pairment in daily living.
Self-Injurious Behaviors
Although not specific to ASD, self-in-
jurious behaviors are common in children
with autism, particularly those with more
severe symptoms as well as cognitive im-
pairment.
MEDICAL COMORBIDITIES
Epilepsy
The reported prevalence of epilepsy
(recurrent, unprovoked seizures) in au-
tism has ranged from 5% to 46%.20
The age of seizure onset has followed
a bimodal distribution, with one peak at
younger than age 6 years, and a second
peak in adolescence. Seizure type varies
from generalized seizures (eg, infantile
spasms, generalized tonic-clonic) to
partial-onset seizures, the most common
type in autism. Epilepsy in autism tends
to correlate with intellectual disability
and a worse prognosis, supporting the
concept of a more severe underlying
neurological process (“autism plus”).
Because certain types of seizures (eg,
complex partial) can be difficult to rec-
ognize in the autism population, seizures
should be considered in the differential
diagnosis of a new, unexplained behav-
ioral disturbance or developmental re-
gression after the age of 4 years.
Sleep Disorders
Sleep disorder is the most common
medical comorbidity in the autism popu-
lation, seen in an estimated 50% to 80%
of patients.21 Disturbance of sleep onset
and sleep maintenance are common, and
can result in worsening of the individual’s
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daytime functioning, while also disrupt-
ing family stability. Primary sleep dis-
orders, such as restless legs syndrome
(sometimes caused by an iron deficiency)
and obstructive sleep apnea (commonly
caused by enlarged tonsils and adenoids),
can be seen in ASD, as well as sleep dis-
ruption secondary to other medical con-
ditions, such as nocturnal seizures and
gastroesophageal reflux. A sleep study
should be considered if sleep hygiene and
behavioral strategies are ineffective.
Nutrition and Gastrointestinal
Dysfunction
The relationship of gastrointestinal
(GI) dysfunction and ASD is controver-
sial. Many complementary and alterna-
tive medicine therapies have targeted GI
health, some based on theories that GI
dysfunction is not only associated with
autism, but possibly causative. These
theories have been supported primarily
by anecdotal evidence, and have not held
up to more rigorously designed studies.
Data have supported a higher incidence
of constipation and food selectivity in the
ASD population, although the underlying
basis of these symptoms is more likely
behavioral than biological.22 GI health
and overall wellness should not be ig-
nored; physical symptoms and nutritional
deficiencies can be difficult to recognize
and diagnose in this population, and could
worsen autistic behaviors.
ASSESSMENT AND
DIAGNOSIS
Primary Care Provider Assessment
The following probes for assessing early
symptoms are the same as those used in
standardized diagnostic instruments, such
as the Autism Diagnostic Observation
Schedule;23 however, they take only a few
minutes to administer and observe, making
them easy to include in well-child exams.
Eye contact and social orienting can be
assessed at most every well-child check.
Neonates orient to faces and show a pref-
erence for faces over objects. Observe the
infant during interactions with mother and
provider and note whether the infant ori-
ents to the face.
Response to name, imitative social play,
and social smiling can be assessed later in
the first year of life. Within the first few
minutes of the exam, move to a location
behind the infant and call the child’s name
several times. Engage the child socially by
smiling and peeking at the infant from be-
hind an object. Observe the infant for smil-
ing, cooing, turning to look at the provider
when called by name, making eye contact
throughout, and showing enjoyment and
anticipation during peek-a-boo.
Vocalization and gesture use, motor im-
itation, and joint attention can be assessed
starting at the 12-month visit. Note use of
speech-like babble and word approxima-
tions, social use of gestures (waving good-
bye), imitation of simple motor actions
(sticking your tongue out, clapping), and
ability to follow your point.
Referral to a developmental clinic
and early intervention program may be
warranted if delays are noted in these
skill domains.
Screening Instruments
Reliable screening instruments for
children in the first year of life are still
being researched. For children younger
than 16 months, providers should fol-
low the Centers for Disease Control and
Prevention Act Early guidelines.24 All
children 16 months and older should be
screened with the Modified-Checklist
for Autism in Toddlers (M-CHAT), a
23-item yes/no parent checklist.25 For
children 4 years and older, the Social
Communication Questionnaire (SCQ),
a short parent-report questionnaire, is
recommended.26
Evidence-Based Assessment
A comprehensive assessment be-
gins with the pediatrician/family physi-
cian screening for autism symptoms in
the primary care setting. When feasible
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within a local health care system, posi-
tive screens can be followed by referral
to a specialty clinic for detailed diag-
nostic assessment using standardized
tools, such as the Autism Diagnostic
Interview-Revised (ADI-R)27 and the
Autism Diagnostic Observation Sched-
ule (ADOS),23 and screening for psychi-
atric and behavioral conditions common
in youth with ASD. Confirmed autism
diagnoses can be followed by a speech
and language evaluation, an occupation-
al and/or physical therapy assessment
(to address motor delays and sensory
based behaviors), and social work evalu-
ation (to assess family functioning and
resources). A neuropsychological exam-
ination may also be requested to formal-
ly assess cognitive, memory, executive
functioning, and academic skills, and
to provide recommendations for educa-
tional programming, especially in older
children and adolescents.
Medical Assessment and Follow-up
If a child is being considered for ASD
diagnosis, the evaluation should include
a neurodevelopmental examination and
a hearing evaluation. Once a diagnosis
has been established, genetic testing to
rule out Fragile X syndrome is recom-
mended if comorbidity with intellectual
disability is suspected.28 Additional as-
sessment, such as more detailed genetic
and metabolic testing, neuroimaging,
and electroencephalography (EEG)
should be considered on an individual-
ized basis. Medical follow-up is also tai-
lored for the individual, and may include
involvement from multiple specialties
(developmental pediatrics, neurology,
psychiatry, and genetics) in addition to
the primary care provider.
CONCLUSION
As autism researchers advance un-
derstanding of genetic and environ-
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4010Toth.indd 492
CM E
mental risk factors for ASD, recognized
cases of autism continue to increase, and
our behavioral definition of the disorder
continues to evolve. Screening and diag-
nostic tools are now available; children
are being identified at very early ages,
and then entering early intervention
programs. Primary care providers are
critical to the process of detecting early
signs and symptoms of ASD and refer-
ring patients for further evaluation.
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