Autism American Academy of Pediatrics Guidelines, 2007 Colleen A. Kraft, M.D., FAAP

The Basics of Autism 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 Characteristics Leo Kanner (1943) classic paper Description of 11 children with previously undescribed syndrome Characteristics 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 Sub-clinical manifestations Asperger syndrome Fewer symptoms, no language delay Pervasive Developmental Disorder-NOS Sub-clinical manifestations The broader autism phenotype in family members 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? 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 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 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: 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-to-3 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 Developmental surveillance should be performed at all well-child visits from infancy through school-age, 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 Pre-Screening Developmental Questionnaire (R-DPDQ) are not recommended for appropriate primary-care developmental surveillance (Guideline). 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.

Recommendations 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). 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 Who should diagnose autism? What are the medical and neurologic concerns in evaluating children with autism? What are the specific deficits of the autistic child’s developmental profile? 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 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 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

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