PPM - Evaluation of Autism Spectrum Disorder-Checklist

Checklist

Pdf Summary

The "Evaluation of Autism Spectrum Disorder" checklist (version August 2025) outlines a comprehensive approach for assessing individuals with ASD. Key steps include reviewing prior medical records from relevant providers to confirm diagnosis and obtaining a detailed three-generation family history. A thorough symptom review should cover concerns such as cardiac issues and sensory impairments. Clinical examination must include detailed assessments of dysmorphology, neurology, and skin.<br /><br />Genetic testing is strongly recommended, with exome or genome sequencing advised for the patient and parents if possible. Fragile X testing and chromosomal microarray analysis may be considered based on clinical findings and family history, especially if initial genetic tests are inconclusive. Metabolic testing may be warranted if there are signs suggestive of inborn errors of metabolism.<br /><br />If an underlying etiology is identified, clinicians should provide prognosis information, tailor etiology-specific treatment, and refer patients to appropriate subspecialists for management of current or future medical conditions. Genetic counseling is essential to address recurrence risks in future pregnancies, whether a specific cause or a multifactorial origin is suspected.<br /><br />The checklist emphasizes the importance of connecting patients and families with early intervention services, special education, developmental therapies, educational materials, and support groups. For patients with non-diagnostic exome or genome sequencing results, periodic reanalysis every 1-3 years is recommended to improve diagnostic yield as new information becomes available.<br /><br />Overall, this guideline promotes a multidisciplinary, genetics-informed, and family-centered approach to ASD evaluation aimed at diagnosis, management, and support across medical, developmental, and psychosocial domains.

Keywords

Autism Spectrum Disorder

ASD evaluation

genetic testing

exome sequencing

genome sequencing

Fragile X testing

chromosomal microarray analysis

metabolic testing

family history

early intervention services