Recommendations are presented in three sections. The first two sections, titled "Level One: Routine Developmental Surveillance and Screening Specifically for Autism," and "Level Two: Diagnosis and Evaluation of Autism," give recommendations linked to specific evidence. Definitions of the strength of the recommendations (Standard, Guideline, Practice Option) and strength of the evidence (Class I, Class II, Class III) are provided at the end of the "Major Recommendations" field. The third section, titled "Consensus-Based General Principles of Management," presents additional recommendation based on broad consensus.
Level One: Evidence-Based Recommendations for Routine Developmental Surveillance and Screening Specifically for Autism
Clinical Practice 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(R) Screens, the Child Development Inventories, and the Parents' Evaluations of Developmental Status (Guideline).
- 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.
- 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 Checklist for Autism in Toddlers (CHAT) or the Autism Screening Questionnaire (Guideline).
- Laboratory investigations recommended for any child with developmental delay and/or autism include audiologic assessment and lead screening (Guideline). Early referral for a formal audiologic assessment should include behavioral audiometric measures, assessment of middle ear function, and electrophysiologic procedures using experienced pediatric audiologists with current audiologic testing methods and technologies (Guideline). Lead screening should be performed in any child with developmental delay and pica. Additional periodic screening should be considered if the pica persists (Guideline).
Level Two: Evidence-Based Recommendations for Diagnosis and Evaluation for Autism
Clinical Practice Recommendations:
- Genetic testing in children with autism, specifically high resolution chromosome studies (karyotype) and DNA analysis for Fragile X, should be performed in the presence of mental retardation (or if mental retardation cannot be excluded), if there is a family history of Fragile X or undiagnosed mental retardation, or if dysmorphic features are present (Standard). However, there is little likelihood of positive karyotype or Fragile X testing in the presence of high-functioning autism.
- Selective metabolic testing (Standard) should be initiated by the presence of suggestive clinical and physical findings such as the following: if lethargy, cyclic vomiting, or early seizures are evident; the presence of dysmorphic or coarse features; evidence of mental retardation or if mental retardation cannot be ruled out; or if occurrence or adequacy of newborn screening for a birth is questionable.
- There is inadequate evidence at the present time to recommend an electroencephalogram study in all individuals with autism. Indications for an adequate sleep-deprived electroencephalogram with appropriate sampling of slow wave sleep include (Guideline) clinical seizures or suspicion of subclinical seizures, and a history of regression (clinically significant loss of social and communicative function) at any age, but especially in toddlers and preschoolers.
- Recording of event-related potentials and magnetoencephalography are research tools at the present time, without evidence of routine clinical utility (Guideline).
- There is no clinical evidence to support the role of routine clinical neuroimaging in the diagnostic evaluation of autism, even in the presence of megalencephaly (Guideline).
- There is inadequate supporting evidence for hair analysis, 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, or erythrocyte glutathione peroxidase studies (Guideline).
Consensus-Based General Principles of Management
The following recommendations are based on consensus agreement by the participating organizations involved in the development of this parameter.
Surveillance and Screening
In the United States, states must follow federal Public Law 105-17: the Individuals with Disabilities Education Act Amendments of 1997–IDEA'97, which mandates immediate referral for a free appropriate public education for eligible children with disabilities from the age of 36 months, and early intervention services for infants and toddlers with disabilities from birth through 35 months of age.
Diagnosis
The diagnosis of autism should include the use of a diagnostic instrument with at least moderate sensitivity and good specificity for autism. Sufficient time should be planned for standardized parent interviews regarding current concerns and behavioral history related to autism, and direct, structured observation of social and communicative behavior and play. Recommended instruments include:
Diagnostic Parental Interviews
- The Gilliam Autism Rating Scale
- The Parent Interview for Autism
- The Pervasive Developmental Disorders Screening Test-Stage 3
- The Autism Diagnostic Interview-Revised
Diagnostic Observation Instruments
- The Childhood Autism Rating Scale
- The Screening Tool for Autism in Two-Year-Olds
- The Autism Diagnostic Observation Schedule-Generic
Medical and Neurologic Evaluation
Perinatal and developmental history should include milestones; regression in early childhood or later in life; encephalopathic events; attentional deficits; seizure disorder (absence or generalized); depression or mania; and behaviors such as irritability, self-injury, sleep and eating disturbances, and pica. The physical and neurologic examination should include: longitudinal measurements of head circumference and examination for unusual features (facial, limb, stature, etc.) suggesting the need for genetic evaluation; neurocutaneous abnormalities (requiring an ultraviolet [Wood's] lamp examination); gait; tone; reflexes; cranial nerves; and determination of mental status, including verbal and nonverbal language and play.
Evaluation and Monitoring of Autism
The immediate and long-term evaluation and monitoring of autistic individuals requires a comprehensive multi-disciplinary approach, and can include one or more of the following professionals: psychologists, neurologists, speech-language pathologists and audiologists, pediatricians, child psychiatrists, occupational therapists, and physical therapists, as well as educators and special educators. Individuals with mild autism should also receive adequate assessments and appropriate diagnoses.
Reevaluation within 1 year of initial diagnosis and continued monitoring is an expected aspect of clinical practice because relatively small changes in the developmental level affect the impact of autism in the preschool years. In general, there is no need to repeat extensive diagnostic testing; however, follow-up visits can be helpful to address behavioral, environmental, and other developmental concerns.
Speech, Language, and Communication Evaluation
A comprehensive speech-language-communication evaluation should be performed on all children who fail language developmental screening procedures by a speech-language pathologist with training and expertise in evaluating children with developmental disabilities. Comprehensive assessments of both pre-verbal and verbal individuals should account for age, cognitive level, and socioemotional abilities, and should include assessment of receptive language and communication, expressive language and communication, voice and speech production, and in verbal individuals, a collection and analysis of spontaneous language samples to supplement scores on formal language tests.
Cognitive and Adaptive Behavior Evaluations
Cognitive evaluations should be performed in all children with autism by a psychologist or other trained professional. Cognitive instruments should be appropriate for the mental and chronological age, provide a full range (in the lower direction) of standard scores and current norms independent of social ability, include independent measures of verbal and nonverbal abilities, and provide an overall index of ability. A measure of adaptive functioning should be collected for any child evaluated for an associated cognitive handicap. Consensus-based recommendations for using specific instruments include the Vineland Adaptive Behavior Scales and the Scales of Independent Behavior-Revised.
Sensorimotor and Occupational Therapy Evaluations
Evaluation of sensorimotor skills by a qualified experienced professional (occupational therapist or physical therapist) should be considered, including assessment of gross and fine motor skills, praxis, sensory processing abilities, unusual or stereotyped mannerisms, and the impact of these components on the autistic person's life. An occupational therapy evaluation is indicated when deficits exist in functional skills or occupational performance in the areas of play or leisure, self-maintenance through activities of daily living, or productive school and work tasks. Although not routinely warranted as part of all evaluations of children with autism, the Sensory Integration and Praxis Tests may be used on an individual basis to detect specific patterns of sensory integrative dysfunction.
Neuropsychological, Behavioral, and Academic Assessment
These assessments should be performed as needed, in addition to the cognitive assessment, to include social skills and relationships, educational functioning, problematic behaviors, learning style, motivation and reinforcement, sensory functioning, and self-regulation. Assessment of family resources should be performed by appropriate psychologists or other qualified health care professionals and should include assessment of parents' level of understanding of their child's condition, family (parent and sibling) strengths, talents, stressors and adaptation, resources and supports, as well as offer appropriate counseling and education.
Definitions:
Strength of the Recommendations:
Standard. A principle for patient management that reflects a high degree of clinical certainty (usually requires one or more Class I studies that directly address the clinical question, or overwhelming Class II evidence when circumstances preclude randomized clinical trials).
Guideline. A recommendation for patient management that reflects moderate clinical certainty (usually requires one or more Class II studies or a strong consensus of Class III evidence).
Practice Option. Strategy for patient management for which clinical utility is uncertain (inconclusive or conflicting evidence or opinion).
Quality of the Evidence:
Class I. Must have all of a through d. (a) Prospective study of a well-defined cohort which includes a description of the nature of the population, the inclusion/exclusion criteria, demographic characteristics such as age and sex, and seizure type. (b) The sample size must be adequate with enough statistical power to justify a conclusion or for identification of subgroups for whom testing does or does not yield significant information. (c) The interpretation of evaluations performed must be done blinded to outcome. (d) There must be a satisfactory description of the technology used for evaluations (e.g., electroencephalogram, magnetic resonance imaging).
Class II. Must have a or b. (a) Retrospective study of a well-defined cohort which otherwise meets criteria for class 1a, b and 1d. (b) Prospective or retrospective study which lacks any of the following: adequate sample size, adequate methodology, a description of inclusion/exclusion criteria, and information such as age, sex and characteristics of the seizure.
Class III. Must have a or b. (a) A small cohort or case report. (b) Relevant expert opinion, consensus, or survey. A cost-benefit analysis or a meta-analysis may be class I, II, or III, depending on the strength of the data upon which the analysis is based.
