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

[22q11.2 deletion syndrome]

22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) and Williams syndrome (WS ) are common neurogenetic microdeletion syndromes . The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22 q 11 .2 DS and WS .Forty -five individuals with 22 q 11 .2 DS , 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 .We found that while anxiety , mood and disruptive disorders had an equally high prevalence among individuals with 22 q 11 .2 DS , WS and DDs , the 22 q 11 .2 DS 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 22 q 11 .2 DS subjects had worse Performance-IQ than Verbal-IQ , a feature typical of non-verbal learning disorders .These findings offer a wide perspective on unique versus common phenotypes in 22 q 11 .2 DS and WS .

Diseases
Validation

Diseases presenting "cognitive executive" symptom

22q11.2 deletion syndrome

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