Psychiatric features in children with genetic syndromes: toward functional phenotypes.

Document Type


Publication Date



Maine Behavioral Health, Pediatrics

Journal Title

Child and adolescent psychiatric clinics of North America

MeSH Headings

Angelman Syndrome, Attention Deficit Disorder with Hyperactivity, Child, Cognition Disorders, Down Syndrome, Fragile X Mental Retardation Protein, Fragile X Syndrome, Health Status, Humans, Mental Disorders, Methyl-CpG-Binding Protein 2, Phenotype, Point Mutation, Polymerase Chain Reaction, Prader-Willi Syndrome, Rett Syndrome, Williams Syndrome


Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental delay carry a greater burden of mental illness than the general population, familiarity with the most common genetic disorders will serve practitioners seeing a general child population. In this article basic genetic testing and 11 of the most common genetic disorders are reviewed, including the evidence base for treatment. Based on their training in child development, family systems, and multimodal treatment, child psychiatrists are well positioned to integrate cognitive, behavioral, social, psychiatric, and physical phenotypes, with a focus on functional impairment.



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