A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.
OBJECTIVE
22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS.


METHODS
Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls were compared for the rates of psychiatric disorders as well as cognitive executive and visuospatial functions.


RESULTS
We found that while anxiety, mood and disruptive disorders had an equally high prevalence among individuals with 22q11.2DS, WS and DDs, the 22q11.2DS group had the highest rates of psychotic disorders and the WS group had the highest rates of specific phobia. We also found that the WS group demonstrated more severe impairments in both executive and visuospatial functions than the other groups. WS and 22q11.2DS subjects had worse Performance-IQ than Verbal-IQ, a feature typical of non-verbal learning disorders.


CONCLUSIONS
These findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS.
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer 52621, Israel; The Institute for Clinical Neurophysiology and Audiology, Rabin Medical Center, Petah Tikva 49202, Israel; The Interdisciplinary Ph.D. Program in Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel.
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Zarchi
Department of Psychiatry, University of British Columbia & Division of Child & Adolescent Psychiatry, BC Children's Hospital, Vancouver, Canada.
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Diamond
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer 52621, Israel.
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Weinberger
Department of Psychiatry, University of British Columbia & Division of Child & Adolescent Psychiatry, BC Children's Hospital, Vancouver, Canada.
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Abbott
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, Petah Tikva 49202, Israel.
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Carmel
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, Petah Tikva 49202, Israel.
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Frisch
The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, Petah Tikva 49202, Israel.
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Michaelovsky
Department of Psychiatry, McGill University, Montreal, Canada; ABS Lab and Douglas Institute Research Center, Verdun, Canada.
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Gruber
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; The Nes-Ziyyona-Beer Yaakov Mental Health Center, Nes-Ziyyona 70400, Israel.
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Green
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, Petah Tikva 49202, Israel; Research Unit at Geha Mental Health Center, Petah Tikva 49202, Israel.
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Weizman
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer 52621, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address: gothelf@post.tau.ac.il.
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Gothelf
D000293:Adolescent; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications / Q000503:physiopathology / Q000523:psychology*; D056344:Executive Function; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000209:etiology / Q000235:genetics; D009483:Neuropsychological Tests; D010641:Phenotype; D011569:Psychiatric Status Rating Scales; D013028:Space Perception; D014888:Wechsler Scales; D018980:Williams Syndrome / Q000150:complications / Q000503:physiopathology / Q000523:psychology*
22q11.2 deletion syndrome; Executive functions; Psychiatric manifestation; Visuospatial functions; Williams syndrome