PPM - Evaluation of Autism Spectrum Disorder-Description and References

Description and References

Pdf Summary

This module on the evaluation of Autism Spectrum Disorder (ASD) focuses on the initial assessment and the role of genetic evaluation in managing this common neurodevelopmental condition affecting about 1 in 31 children. ASD is characterized by difficulties in socialization and communication, alongside repetitive behaviors and interests, and often coexists with other medical and behavioral conditions such as seizures, gastrointestinal issues, mood disorders, and sleep problems.<br /><br />Early screening and developmental surveillance, recommended by the American Academy of Pediatrics at 18 and 24 months, are crucial as early intervention improves outcomes. Following diagnosis, comprehensive assessments of language, cognition, motor skills, vision, and hearing are advised.<br /><br />Genetic evaluation aims to identify a specific cause of ASD, which can guide care, avoid unnecessary tests, and provide family genetic counseling. Recent advances have made exome and genome sequencing preferred first-tier tests for individuals with ASD, enhancing the ability to detect underlying genetic etiologies.<br /><br />Key literature includes guidelines and consensus statements from reputable sources such as the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics, highlighting the clinical utility and best practices for genetic testing in neurodevelopmental disorders, including ASD. These resources emphasize multidisciplinary evaluation and evidence-based protocols to optimize diagnosis and management.<br /><br />In summary, the evaluation of ASD involves standardized early screening, detailed developmental assessments, and a strategic genetic workup to identify etiologies, inform care, and support families, with exome and genome sequencing becoming integral in the diagnostic process.

Keywords

Autism Spectrum Disorder

ASD evaluation

genetic evaluation

early screening

developmental surveillance

exome sequencing

genome sequencing

neurodevelopmental disorders

American Academy of Pediatrics guidelines

multidisciplinary assessment