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The Differential Diagnosis of Childhood- and Young Adult-Onset Disorders That Include Psychosis

Received September 8, 2007; accepted December 10, 2007. Dr. Benjamin is affiliated with the Department of Psychiatry at the University of Massachusetts Medical School in Worcester, Mass.; Dr. Lauterbach is affiliated with Sheppard Pratt Health System in Baltimore; Dr. Stanislawski-Zygaj is affiliated with the VA Western NY Health Care System in Buffalo and the Department of Psychiatry at State University of New York at Buffalo, School of Medicine and Biomedical Sciences. Address correspondence to Sheldon Benjamin, M.D., Department of Psychiatry, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655; sheldon.benjamin{at}umassmed.edu (e-mail).

The evaluation of psychotic individuals for inherited or congenital etiologies is fraught with complexity. The authors reviewed the published literature and found 62 congenital disorders that include psychosis. Their prevalence, workup, genetics, and associated neuropsychiatric features are described. Eighteen disorders (29%) have distinct phenotypes ("doorway diagnoses"); 17 disorders (27%) are associated with mental retardation; and 45 disorders (73%) have prominent neurological signs. Thirty-four disorders (55%) can present without such distinct characteristics, and are thus more readily overlooked. We recommend a systematic and cost-effective differential diagnostic approach based on estimated prevalence and most prominent associated signs.

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