American Academy of Pediatrics Guidelines, 2007
Colleen A. Kraft, M.D., FAAP
The Basics of Autism
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Onset during first 3 years of life
Chronic lifelong course
Male:female ratio = 4:1
Underlying neurological dysfunction
Genetic factors in etiology
Spectrum of severity
Autism Basics
 Kanner’s Description
 Leo Kanner (1943) classic paper
 Description of 11 children with previously undescribed syndrome
 Characteristics
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Inability to relate to others
Failure to use language to convey meaning
Obsessive desire for the maintenance of sameness
Anxiety
Congenital onset
Co-morbidity
 Observations to empirical support
Clinical Features
 Five specific spectrum diagnoses used by DSM-IV:
 Autistic disorder
 Asperger disorder
 Rett disorder
 Childhood disintegrative disorder
 Pervasive developmental disorder-NOS
The Autism Spectrum
 Milder disorders
 Asperger syndrome
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Fewer symptoms, no language delay
 Pervasive Developmental Disorder-NOS
 Sub-clinical manifestations
 The broader autism phenotype in family members
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Language delay
Shyness, social reticence
Rigidity, focused interests
DSM-IV Core Characteristics:
Criteria for Autistic Disorder
 Deficits in reciprocal social interaction
 Impairments in verbal and nonverbal communication
 Restricted, repetitive or stereotyped behaviors and
interests
Meeting Criteria For Autism
 Individual must demonstrate at least 6 of the 12
symptoms
 At least 2 symptoms from the social domain
 At least 1 symptom from communication domain
 At least 1 symptom from the restricted
behaviors/interest domain
 At least 1 symptom must have been present before 36
months of age
Since Kanner: What Do We Know?
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Autism is a Spectrum Disorder
Autism Spectrum Disorders are Not Rare
Autism is a Developmental Disorder
Autism is a Neurodevelopmental Disorder with a
Biological Basis
 Autism Can be Identified Early
Autism Spectrum Disorders Are
Common
 Increase in prevalence
 3-4 times higher than suggested in 1970s
 1.5 times higher than thought in 1980s and 1990s
 Proposed explanations:
 Better identification
 Sensitive diagnostic tools
 Broader classification systems
 Environmental factors
Autism is a Developmental Disorder
 Accurate diagnosis of autism required significant
knowledge of typical development in the following
areas: social, communication, cognitive skills, and
play skills.
 Understanding developmental profiles: must know
what is typical for development and atypical for
development at any age.
Autism is a Neurodevelopmental Disorder with
a Biological Basis
 Genetic factors
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Recurrence risk for autism after the birth of one child with disorder is 3-6%
Concordance rate for autism in monozygotic twins is 60% (and up to 90%
when social and communication abnormalities included)
Genome projects and molecular genetic studies
 Broader Phenotype factors
 Organic Brain Disorder
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fMRI, MRI studies demonstrate: increased head circumference, brain volume,
brain region deficits
Autism Can Be Identified Early
 Most common initial symptom reported by parents is
delayed (or abnormal) speech development
 Social-communicative abnormalities in the first and
second year of life:
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Eye contact
Social referencing
Imitation
Orientation to name
Shared attention and affect
 Early recognition and identification of autism-->early
behavioral markers of autism
Autism…What We Know
 Between 60,000 and 115,000 children under 15
years of age in the US meet diagnostic criteria for
autism.
 The diagnosis of autism often is not made until 2-to3 years after symptoms are recognized, primarily
due to concerns about labeling or incorrectly
diagnosing the child.
 Identifying children with autism and initiating
intensive, early intervention during the preschool
years results in improved outcomes for most young
children. Early diagnosis of autism and early
intervention facilitates earlier educational planning.
Family Experiences
 Out of 1,300 families surveyed:
 The average age of diagnosis of autism was 6 years of
age, despite the fact that most parents felt something
was wrong by 18 months of age
 Less than 10% of children were diagnosed at initial
presentation
 10% were either told to return if their worries persisted, or
that their child "would grow out of it"
 The rest were referred to another professional (at a mean
age of 40 months); of which:
 40% were given a formal diagnosis
 25% were told "not to worry"
 25% were referred to a third or fourth professional
AAP Guidelines
 Identification requires two levels of investigation.
 Screening and Surveillance
 Diagnosis/Referral and Coordination of Care
 For these two areas of investigation, specific
clinical questions were defined, clinical evidence
was summarized, and diagnostic
recommendations were developed.
Developmental Surveillance and
Screening
• Should be performed on all children.
• Involves first identifying those at risk for any type of
atypical development, followed by identifying those
specifically at risk for autism.
• Mental retardation or other medical or
neurodevelopmental conditions require separate
evaluations and are not within the scope of this
document.
Developmental Screening
 Approximately 25% of children in any primary care
practice show developmental issues.
 Fewer than 30% of primary care providers conduct
standardized screening tests at well-child
appointments.
 The American Academy of Pediatrics (AAP) stresses
the importance of a flexible, continual developmental
surveillance process at each well-child visit, and
recommends eliciting and valuing parental concerns,
probing regarding age-appropriate skills in each
developmental domain, and observing each child.
Developmental Screening Tools
 Developmental screening tools are formulated based
on screening of large populations of children with
standardized test items.
 Sensitive and specific screening instruments include:
the Ages and Stages Questionnaire, the
BRIGANCE® Screens, the Child Development
Inventories, and the Parents’ Evaluations of
Developmental Status.
 The Denver-II has been the traditional tool used for
developmental screening, research has found that it
is insensitive and lacks specificity.
How Are Norms Defined?
 Conventional language milestones are based on normative data from
standardized language instruments for infants. Failure to meet these
milestones is associated with a high probability of a developmental
disability.
 Lack of acquisition of the following milestones within known accepted
and established ranges is considered abnormal:
 no babbling by 12 months
 no gesturing (e.g., pointing, waving bye-bye) by 12 months
 no single words by 16 months
 no 2-word spontaneous (not just echolalic) phrases by 24
months
 any loss of any language or social skills at any age
Parental Concern
 In several studies (n=737 children), parental
concerns about speech and language development,
behavior, or other developmental issues were highly
sensitive (i.e., 75% to 83%) and specific (79% to
81%) in detecting global developmental deficits.
 The absence of such concerns had modest
specificity in detecting normal development (47%).
 In a study that combined parental concern with a
standardized parental report found this to be effective
for early behavioral and developmental screening in
the primary care setting.
How Early?
 There are no biological markers for autism, so
screening must focus on behavior.
 Studies comparing autistic and typically
developing children show problems with eye
contact, orienting to one’s name, joint attention,
pretend play, imitation, nonverbal
communication, and language development are
measurable by 18 months of age.
 Current screening methods may not identify
children with milder variants of autism, those
without mental retardation or language delay
Autism in Siblings?
 The incidence of autism in the general population
is 0.2%, but the risk of having a second (or
additional) autistic child increases almost 50-fold
to approximately 10 to 20%.
Best Practice for Screening for ASD
 Autism can be identified in very young children.
 Screening for ASD should be conducted in
conjunction with routine developmental surveillance.
 Because parents are the experts regarding their
children, eliciting and valuing parental concerns is
imperative.
Screening Instruments for ASD
 Screening tools specific to ASD:
 The Checklist for Autism in Toddlers (CHAT)
 The Modified Checklist for Autism in Toddlers (M-
CHAT)
 The Screening Tool for Autism in Two-Year-Olds
(STAT)
 The Stage 2-Pervasive Developmental Disorders
Screening Test (PDDST-II)
Screening Tool: M-CHAT
 M-CHAT (Robins et al., 2001) is 23-item checklist
designed as a screen fro ASD at 24 months of age.
 Form consists of yes/no format that parents fill out.
 Spanish translation available.
 Demonstrated validity in identifying the majority of
children with ASD and developmental delay at 24
months
Screening Tool: M-CHAT
 Sample items from M-CHAT
 Does your child look at your face to check your reaction when faced with
something unfamiliar?
 Does your child ever use his/her index finger to point, to indicate interest
in something?
 Does your child ever bring objects over to you (parent) to show you
something?
 Does your child respond to his/her name when you call?
ASD Screening in Conjunction with Routine
Developmental Surveillance
 Best practices recommend that all children be screened specifically for ASD
at ages 18 and 24 months.
 Clinical signs or “red flags” exist that can help identify children at risk for
delay and/or ASD. Indicators include:
 No babbling by 12 months of age
 No back and forth gestures such as pointing, showing, reaching, waving by 12
months
 No words by 16 months
 No two-word meaningful phrases (does not include imitation or repetition) by 24
months
 ANY loss of speech, babbling or social social skills at ANY age.
Elicit and Value Parental Concerns
 All professional encounters with young children should be viewed as
an opportunity to elicit developmental information.
 Advantages (Glascoe, 1999):
 Concerns are easy to elicit
 Inquiry is brief
 Does not involve challenge of eliciting skills from young children
 Provides family-centered approach to addressing problems
 Can facilitate a wide range of options including parenting education,
reassurance, referral, or further screening or developmental testing
Recommendations
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Developmental surveillance should be performed
at all well-child visits from infancy through schoolage, and at any age thereafter if concerns are
raised about social acceptance, learning, or
behavior (Guideline).
Recommended developmental screening tools
include the Ages and Stages Questionnaire, the
BRIGANCE® Screens, the Child Development
Inventories, and the Parents’ Evaluations of
Developmental Status (Guideline).
Recommendations
Because of the lack of sensitivity and specificity, the
Denver-II (DDST-II) and the Revised Denver PreScreening Developmental Questionnaire (R-DPDQ) are
not recommended for appropriate primary-care
developmental surveillance (Guideline).
4. Further developmental evaluation is required whenever
a child fails to meet any of the following milestones
(Guideline): babbling by 12 months; gesturing (e.g.,
pointing, waving bye-bye) by 12 months; single words
by 16 months; two-word spontaneous (not just
echolalic) phrases by 24 months; loss of any language
or social skills at any age.
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Recommendations
5. Siblings of children with autism should be carefully
monitored for acquisition of social, communication,
and play skills, and the occurrence of maladaptive
behaviors. Screening should be performed not only
for autism-related symptoms but also for language
delays, learning difficulties, social problems, and
anxiety or depressive symptoms (Guideline).
6. Screening specifically for autism should be
performed on all children failing routine
developmental surveillance procedures using one
of the validated instruments—the CHAT or the
Autism Screening Questionnaire (Guideline).
Screening Results
 Screening results are
consistent with typical
development. No signs of
developmental delays or risk
factors identified.
 Screening results are
consistent with typical
development; however,
presence of risk factors.
 Screening results indicate a
possible delay or disorder.
Risk factors may be
identified.
 Routine monitoring
 Referral for services and
supports & heightened
monitoring
 Assessment, referral for
services and supports as
needed, & heightened
monitoring
Referral of Child with Possible ASD
 Confusion surrounding referral process--major
barrier to screening:
 Need resource directory, contacts for individuals and teams, referral
process explanation, etc.
 Next Steps:
 Conveying information to families
 Supporting Documentation for referral
 Where to Refer:
 Developmental Pediatrician
 Part C
 School System
Diagnosis
1. Who should diagnose autism?
2. What are the medical and neurologic concerns
in evaluating children with autism?
3. What are the specific deficits of the autistic
child’s developmental profile?
4. When and what laboratory investigations are
indicated for the diagnosis of autism?
Diagnosis
 Although educators, parents, and other health care
professionals identify signs and symptoms
characteristic of autism, a clinician experienced in
the diagnosis and treatment of autism is usually
necessary for accurate and appropriate diagnosis.
 Clinicians must rely on their clinical judgment, aided
by guides to diagnosis, such as DSM-IV as well as
by the results of various assessment instruments,
rating scales, and checklists.
 These instruments and criteria should be used by
practitioners not as experienced in the diagnosis of
autism.
Core Concepts that Guide Screening,
Diagnosis and Assessment in Autism
 DSM-IV is current classification standard for
establishing diagnosis of ASD.
 Early identification is essential for early therapeutic
intervention and leads to a higher quality of life for
family and child.
 Informed clinical judgment is a required element of a
screening, diagnostic and assessment process.
 Accurate screening and assessment requires
collaboration and problem solving among
professionals, service agencies and families
Core Concepts that Guide Screening,
Diagnosis and Assessment in Autism
 An interdisciplinary process is the recommended means
for developing a coherent and inclusive profile for an
individual at risk for or diagnosed with ASD.
 From screening through intervention planning, the
evaluation process must be family-centered and culturally
sensitive.
 From time of screening--timely
referral and
coordination of evaluation and ongoing assessment
enhances outcome.
 Rapid developments in the field require regular review of
current best practice procedures and up-to-date training
Medical Concerns
 Familial prevalence Family studies have shown that
there is a 50-to-100-fold increase in the rate of autism in
first-degree relatives of autistic children.
 Large head circumference without frank neuropathology
Children with autism have a larger head circumference;
only a small proportion have frank macrocephaly.
 Association with tuberous sclerosis complex (TSC) and
less often with Fragile X (FraX) syndrome Seventeen to
over 60% of mentally retarded individuals with TSC are
also autistic, and these patients commonly have epilepsy.
Clinical studies report that 3% to 25% of patients with
FraX have autism.
Laboratory Testing
 Genetic testing A chromosomal abnormality
reported in possibly more than 1% of autistic
individuals involves the proximal long arm of
chromosome 15 (15q11-q13), which is a greater
frequency than other currently identifiable
chromosomal disorders.
 Metabolic testing Inborn errors in amino acid,
carbohydrate, purine, peptide, and mitochondrial
metabolism, as well as toxicologic studies have been
studied, but the percentage of children with autism
who have a metabolic disorder is probably less than
5%.
Imaging and EEG
 Electrophysiologic testing The prevalence of
epilepsy in autistic children has been estimated
at 7% to 14%, A higher incidence of epileptiform
EEG abnormalities in autistic children with a
history of regression has been reported when
compared to autistic children with clinical
epilepsy.
 Neuroimaging CT and MRI studies of autistic
children screened to exclude those with
disorders other than autism confirmed the
absence of significant structural brain
abnormalities
Other Tests?
 Formal audiologic evaluation All children with
developmental delays, particularly those with delays
in social and language development, should have a
formal audiologic hearing evaluation (American
Speech–Language–Hearing Association).
 Lead screening The National Center for
Environmental Health of the Centers for Disease
Control and Prevention recommends that children
with developmental delays, even without frank pica,
should be screened for lead poisoning.
Insufficient Evidence
 hair analysis for trace
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elements
celiac antibodies
allergy testing
(particularly food
allergies for gluten,
casein, candida, and
other molds)
immunologic or
neurochemical
abnormalities
micronutrients such as
vitamin levels
 intestinal permeability
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studies
stool analysis
urinary peptides
mitochondrial disorders
(including lactate and
pyruvate)
thyroid function tests
erythrocyte glutathione
peroxidase studies
Autism Guidelines
 Screening with Surveillance
 Parent Concerns
 How to handle “at risk”
 Medical testing
 Referral for further diagnosis
 Coordinated care and Medical Home
Thank You!