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A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes

Published online by Cambridge University Press:  15 April 2020

O. Zarchi ,
A. Diamond ,
R. Weinberger ,
D. Abbott ,
M. Carmel ,
A. Frisch ,
E. Michaelovsky ,
R. Gruber ,
T. Green  and
A. Weizman
...Show all authors
O. Zarchi
Affiliation:
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621Tel Hashomer, Israel The Institute for Clinical Neurophysiology and Audiology, Rabin Medical Center, 49202Petah Tikva, Israel The Interdisciplinary Ph.D. Program in Neuroscience, Tel Aviv University, 69978Tel Aviv, Israel
A. Diamond
Affiliation:
Department of Psychiatry, University of British Columbia & Division of Child & Adolescent Psychiatry, BC Children's Hospital, Vancouver, Canada
R. Weinberger
Affiliation:
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621Tel Hashomer, Israel
D. Abbott
Affiliation:
Department of Psychiatry, University of British Columbia & Division of Child & Adolescent Psychiatry, BC Children's Hospital, Vancouver, Canada
M. Carmel
Affiliation:
Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, 49202Petah Tikva, Israel
A. Frisch
Affiliation:
Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, 49202Petah Tikva, Israel
E. Michaelovsky
Affiliation:
The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, 49202Petah Tikva, Israel
R. Gruber
Affiliation:
Department of Psychiatry, McGill University, Montreal, Canada ABS Lab and Douglas Institute Research Center, Verdun, Canada
T. Green
Affiliation:
Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel The Nes-Ziyyona–Beer Yaakov Mental Health Center, 70400Nes-Ziyyona, Israel
A. Weizman
Affiliation:
Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel The Biochemical Genetics Laboratory, Felsenstein Medical Research Center, 49202Petah Tikva, Israel Research Unit at Geha Mental Health Center, 49202Petah Tikva, Israel
D. Gothelf*
Affiliation:
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621Tel Hashomer, Israel Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel
*
*Corresponding author. The Child Psychiatry Unit, Sheba Medical Center, Tel Hashomer 52621, Israel. Tel.: +972 3 530 2663; fax: +972 77 349 8317. E-mail address: gothelf@post.tau.ac.il (D. Gothelf).
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Abstract

Purpose:

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.

Conclusion:

These findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS.

Keywords

22q11.2 deletion syndromeWilliams syndromeExecutive functionsVisuospatial functionsPsychiatric manifestation
Type
Original articles
Information
European Psychiatry , Volume 29 , Issue 4 , May 2014 , pp. 203 - 210
Copyright
Copyright © European Psychiatric Association 2014

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