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This guideline was developed for non-genetic providers to offer guidance on ordering genetic and metabolic testing in neurodevelopmental disorders (NDD). With a combined prevalence of approximately 17% among children aged 3–17 years, NDDs represent the most frequent chronic medical conditions encountered in pediatric primary care. Genetic testing is recommended for individuals with global developmental delay (GDD) and/or intellectual disability (ID), and for individuals with autism (ASD). It is NOT typically recommended for individuals with ADHD or isolated learning disabilities in the absence of GDD/ID or ASD unless there are syndromic features. Recommended first-tier tests include chromosomal microarray (CMA). Fragile X can be a first-tier test if suggestive features are present. Depending on the clinical presentation of the individuals, additional options include metabolic testing, multigene panels, and exome sequencing (ES).
Most Recent References
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). Carter MT, et al. J Med Genet 2023;60:523–532. doi:10.1136/jmg-2022-108962 523.
Genetic testing in neurodevelopmental disorders. Savatt JM, Myers SM. Front Pediatr 2021;9:526779.
Prevalence and trends of developmental disabilities among children in the United States: 2009-2017. Zablotsky B, Black LI, Maenner MJ, et al. Pediatrics 2019;144:e20190811.