A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes |
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| Affiliation: | 1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada;2. Department of Psychiatry, University of Toronto, Ontario, Canada;3. Clinical Genetics Service, Centre for Addiction and Mental Health, Toronto, Ontario, Canada;4. Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada;5. Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, Toronto, Ontario, Canada;6. Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2DS, Toronto General Hospital, Toronto, Ontario, Canada;7. Department of Psychiatry, University Health Network, Toronto, Ontario, Canada |
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| Abstract: | Purpose22q11.2 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.MethodsForty-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.ResultsWe 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.ConclusionThese findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS. |
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| Keywords: | 22q11.2 deletion syndrome Williams syndrome Executive functions Visuospatial functions Psychiatric manifestation |
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