Autism Spectrum Disorder
Syllabus: Johnson C et al. Identification and Evaluation of Chidlren with Autism
Spectrum Disorders. Pediatrics. 2007;120(5):1183.
Harrington et al. The Clinician’s Guide to Autism. Pediatrics in Review.
2014;35(2):62.
Simms et al. Autism, Language Disorder, and Social (Pragmatic) Communication
Disorder: DSM‐V and Diferential Diagnosis. Pediatrics in Review. 2015;36(8):355.
Introduction
• The essential features of autism spectrum disorder are persistent
impairment in reciprocal social communication and social interaction,
and restricted, repetitive patterns of behavior, interests, or activities.
• These symptoms are present from early childhood and limit or impair
everyday functioning
• Social skills deficits can be noticed in infancy with aversion to cuddling
and lack of acknowledgement of the caregiver
• Also can involve language delays/deficits, motor signs (e.g.,
stereotypies, toe walking), sensory deficits (e.g., intolerance to sound)
• Cognitive abilities vary; typically difficulties with reasoning/planning,
greater abilities in rote memory
DSM5
Criteria for Autism Spectrum Disorder
A. Persistent deficits in social communication and social interaction
across multiple contexts, as manifested by the following, currently or
by history (examples are illustrative, not exhaustive; see text):
1. Deficits in social‐emotional reciprocity, ranging, for example, from
abnormal social approach and failure of normal back‐and‐forth
conversation; to reduced sharing of interests, emotions, or affect; to
failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social
interaction, ranging, for example, from poorly integrated verbal and
nonverbal communication; to abnormalities in eye contact and
body language or deficits in understanding and use of gestures; to a
total lack of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding
relationships, ranging, for example, from difficulties adjusting
behavior to suit various social contexts; to difficulties in sharing
imaginative play or in making friends; to absence of interest in
peers.
B. Restricted, repetitive patterns of behavior, interests, or activities, as
manifested by at least two of the following, currently or by history
(examples are illustrative, not exhaustive; see text):
1. Stereotyped or repetitive motor movements, use of objects, or
speech (e.g., simple motor stereotypies, lining up toys or flipping
objects, echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or
ritualized patterns of verbal or nonverbal behavior (e.g., extreme
distress at small changes, difficulties with transitions, rigid thinking
patterns, greeting rituals, need to take same route or eat same food
every day).
3. Highly restricted, fixated interests that are abnormal in intensity or
focus (e.g., strong attachment to or preoccupation with unusual
objects, excessively circumscribed or perseverative interests).
4. Hyper‐ or hyporeactivity to sensory input or unusual interest in
sensory aspects of the environment (e.g., apparent indifference to
pain/temperature, adverse response to specific sounds or textures,
excessive smelling or touching of objects, visual fascination with
lights or movement).
C. 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).
D. Symptoms cause clinically significant impairment in social,
occupational, or other important areas of current functioning.
E. These disturbances are not better explained by intellectual disability
(intellectual developmental disorder) or global developmental delay.
Intellectual disability and autism spectrum disorder frequently cooccur;
to make comorbid diagnoses of autism spectrum disorder and
intellectual disability, social communication should be below that
expected for general developmental level.
Risk Factors
• Male (4x risk)
• Having another child with autism
• Advanced parental age
• Genetic/cytogenetic/syndromic conditions
o Down Syndrome, Tuberous sclerosis, untreated PKU, Fragile X,
Angelman, Cornelia de Lange syndrome
• Early bilateral mesial temporal lobe lesions due to herpes simplex or
anoxic/ischemic damage
• Very low birth weight, especially with retinopathy of prematurity
• No association between MMR vaccination and autism
o Studies that showed causation were fraudulent
Screening
• Developmental surveillance is encouraged at all well baby/child visits
• Developmental screening at 18 month visit
• Targeted (secondary) screening is recommended in high risk children
(risk factors, parental concerns, teacher observations, missed
milestones etc) and requires use of specific screening tools (e.g. CHAT)
• Determination that a child is at high risk of ASD should result in
immediate referral to an experienced diagnostician or an
interdisciplinary assessment team
INADEQUATE LANGUAGE FEATURES SUGGESTING AUTISM
At any age
• Regression of language or communicative gestures
• Lack of reliable orienting to speech, turning to name
• Concern about language comprehension
• Persistent mutism unpredictably interrupted by rare isolated clear words or
sentences
In toddlers
• No pointing by 1 year; dragging by the hand
• No words by 12‐14 months
• Less than a dozen words by 18 months
• No 2‐word phrases by 2 years or sentences by 3 years
• Very delayed or absent head shaking or nodding to signify no/yes
In preschoolers and older children
• Failure to answer questions or responding beside the point
• Inability to use language conversationally, “talking to talk” rather than to
communicate (request, show, etc)
• Frequent, persistent verbatim repetition (echolalia)
• Persistent pronoun inversion (you/me confusion), referring to self by name
• Verbatim repetition of overlearned expressions (delayed echolalia, formulaic
speech) rather than self‐generated expressions
• Inability to recount an event or tell a coherent story
• Perseveration on a favorite topic
• Overuse of pedantic words or expressions
• High‐pitched, sing‐song, or uninflected robotic speech
Investigations
• Formal audiological assessment
o Consider blood tests: genetic (karyotype, Fragile X, 22q deletion,
microarray), metabolic, lead levels and neurologic tests: MRI, EEG
Diagnosis
• In accordance with DSM‐V Criteria
• Interdisciplinary approach is ideal
• Assessment of cognitive and developmental levels is required
• Can be diagnosed as early as 18 months by experienced professionals
• Should be made on the basis of a thorough developmental history and
structured behavioural observation and clinical judgment.
• The use of at least one standardized, norm‐referenced parent report
measure and at least one standardized, norm‐referenced behavioral
observation measure is recommended.
Management
• Early, multi‐disciplinary intervention is beneficial
• Structured learning
• Speech and language assessment and therapy
• Occupational therapy ‐ sensory integration
• Behaviour management support
• Medications for self‐injurious and aggressive behaviours
o SSRIs, psychotropic drugs (e.g., Risperidone), anticonvulsants
• Social skills training
• Vocational counseling
Note: Elimination diets and vitamins have no proven efficacy