Abstract
Neurodevelopmental disorders are a heterogeneous group of diseases associated with nervous system impairment, including autism spectrum disorders, intellectual disability, and developmental delay. Traditionally, the diagnostic approach involved examination for the presence or absence of syndromic manifestations (i.e., a recognizable pattern of malformations, dysmorphic features). Several professional societies involved with the care of affected children have recommended a genetic testing-first approach, to enable timely diagnosis, facilitate early interventions, and access to appropriate services. Without a doubt, currently available testing modalities have altered the diagnostic landscape. A causal diagnosis also enables counseling regarding prognosis and recurrent risk, so families may learn of reproductive options and other considerations. Genetic counseling prior to testing is advisable, so the family’s concerns can be addressed and they can be advised about implications and limitations.
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