Recommendations and Guidelines

Autism A.L.A.R.M. Guidelines

CDC, the American Academy of Pediatrics (AAP), and First Signs

The A.L.A.R.M. guidelines, adapted from key policy statements of the AAP and American Academy of Neurology, were developed to establish standard practices among physicians, to simplify the screening process, and to ensure that all children receive routine and appropriate screenings and timely interventions.

Link to Guidelines »

Developmental Surveillance and Screening

American Academy of Pediatrics (AAP), July 2006

Early identification of developmental disorders is critical to the well-being of children and their families. It is an integral function of the primary-care medical home and an appropriate responsibility of all pediatric health care professionals.

AAP recommends that developmental surveillance be incorporated at every well-child preventive care visit. Any concerns raised during surveillance should be addressed promptly with standardized developmental screening tests. In addition, screening tests should be administered regularly at the 9-, 18-, and 24- or 30-month visits.

The early identification of developmental problems should lead to further developmental and medical evaluation, diagnosis, and treatment, including early developmental intervention. Children diagnosed with developmental disorders should be identified as children with special health care needs, and chronic-condition management should be initiated. Identification of a developmental disorder and its underlying etiology may also drive a range of treatment planning, from medical treatment of the child to genetic counseling for his or her parents.

Developmental Surveillance and Screening for Autism Spectrum Disorder

American Academy of Neurology and the Child Neurology Society

Clinical Practice Recommendations:

1. 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.
2. Recommended developmental screening tools include the Ages and Stages Questionnaire, the BRIGANCE® Screens, the Child Development Inventories, and the Parents’ Evaluations of Developmental Status.
3. 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.
4. Further developmental evaluation is required whenever a child fails to meet any of the following milestones: 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.
5. Siblings of children with autism should be monitored carefully 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.
6. For all children failing routine developmental surveillance procedures, screening specifically for autism should be performed using one of the validated instruments.
7. Laboratory investigations, including audiologic assessment and lead screening, are recommended for any child with developmental delay and/or autism. 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. Lead screening should be performed in any child with developmental delay and pica. Additional periodic screening should be considered if the pica persists.

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Diagnosis and Evaluation for Autism Spectrum Disorder

American Academy of Neurology and the Child Neurology Society

Clinical Practice Recommendations:

1. 

   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 intellectual disability (or if intellectual disability cannot be excluded), if there is a family history of Fragile X or undiagnosed intellectual disability, or if dysmorphic features are present. However, there is little likelihood of positive karyotype or Fragile X testing in the presence of high-functioning autism.

2. Selective metabolic testing should be initiated by the presence of suggestive clinical and physical findings such as the following: evidence of lethargy, cyclic vomiting, or early seizures; presence of dysmorphic or coarse features; evidence of intellectual disability cannot be ruled out; or if occurrence or adequacy of newborn screening is questionable.
3. There is inadequate evidence 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 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.
4. Recording of event-related potentials and magnetoencephalography are research tools at the present time, without evidence of routine clinical utility.
5. 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.
6. 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.