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

TitleA comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.
Publication TypeJournal Article
Year of Publication2014
AuthorsZarchi O, Diamond A, Weinberger R, Abbott D, Carmel M, Frisch A, Michaelovsky E, Gruber R, Green T, Weizman A, Gothelf D
JournalEur Psychiatry
Volume29
Issue4
Pagination203-10
Date Published2014 May
ISSN1778-3585
KeywordsAdolescent, Case-Control Studies, Cognition Disorders, DiGeorge Syndrome, Executive Function, Female, Humans, Male, Mental Disorders, Neuropsychological Tests, Phenotype, Psychiatric Status Rating Scales, Space Perception, Wechsler Scales, Williams Syndrome
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.

DOI10.1016/j.eurpsy.2013.07.001
Alternate JournalEur. Psychiatry
PubMed ID24054518