TY - JOUR
T1 - A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes
T2 - Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes
AU - Zarchi, O.
AU - Diamond, A.
AU - Weinberger, R.
AU - Abbott, D.
AU - Carmel, M.
AU - Frisch, A.
AU - Michaelovsky, E.
AU - Gruber, R.
AU - Green, T.
AU - Weizman, A.
AU - Gothelf, D.
N1 - Funding Information:
Funding: This work was supported by the Basil O’Connor Starter Scholar Research Award of the March of Dimes (grant number 5-FY06-590 to D.G.), the National Alliance for Research on Schizophrenia and Depression Young Investigator Award, the Binational Science Foundation (grant number 2011378 to D.G.) and the Neli Horowitz Award, Sackler Faculty of Medicine, Tel Aviv University. The study sponsors were not involved in design, data collection, analysis or interpretation, writing of the report or decision to submit for publication.
PY - 2014/5
Y1 - 2014/5
N2 - 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.
AB - 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.
KW - 22q11.2 deletion syndrome
KW - Executive functions
KW - Psychiatric manifestation
KW - Visuospatial functions
KW - Williams syndrome
UR - http://www.scopus.com/inward/record.url?scp=84899914070&partnerID=8YFLogxK
U2 - 10.1016/j.eurpsy.2013.07.001
DO - 10.1016/j.eurpsy.2013.07.001
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AN - SCOPUS:84899914070
SN - 0924-9338
VL - 29
SP - 203
EP - 210
JO - European Psychiatry
JF - European Psychiatry
IS - 4
ER -