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Behavioral phenotypes of genetic syndromes: a reference guide for psychiatrists
M Moldavsky1, D Lev, T Lerman-Sagie
1Pediatric Psychiatry Unit, Wolfson Medical Center, Holon, Israel. moldav@internet-zahav.net
Objective:
To review the literature on behavioral phenotypes of genetic syndromes, displaying the data as a reference guide for everyday practice.
Method:
A computerized search was performed for articles published in the past 10 years, and selected papers were surveyed.
Results:
The behavioral phenotypes of 11 major genetic syndromes were reviewed including the following topics: genetic etiology, genetic counseling, physical features, medical problems, cognitive and behavioral profile, and psychopathology. The speculated correlation between the identified gene and the pathophysiology of the cognitive and behavioral features is discussed.
Conclusions:
Updated knowledge of behavioral phenotypes will help psychiatrists identify these conditions, refer the patient and his/her family for genetic diagnosis and counseling, make specific treatment recommendations, and contribute to research and syndrome delineation.