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 "anxiety" symptom

22q11.2 deletion syndrome

achondroplasia

adrenal incidentaloma

adrenomyeloneuropathy

cadasil

child syndrome

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cutaneous mastocytosis

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

junctional epidermolysis bullosa

locked-in syndrome

monosomy 21

oligodontia

oral submucous fibrosis

phenylketonuria

von hippel-lindau disease

x-linked adrenoleukodystrophy

This symptom has already been validated