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J Neural Transm (Vienna). 2007;114(11):1495-501. Epub 2007 Jun 8.

Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome.

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The Behavioral Neurogenetics Center, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.


Velocardiofacial syndrome (VCFS) is characterized by both physical manifestations and neuropsychiatric disabilities. About 6-28% of cases are familial. The aim of the present study was to compare the clinical characteristics of subjects with familial and nonfamilial VCFS, with a special focus on cognitive and psychiatric disabilities. In addition, the complexities of coping with the disease in families in which both a parent and children are affected were highlighted in case vignettes. Sixteen patients from six families with VCFS were compared to 63 subjects with nonfamilial VCFS for physical parameters, IQ, and rate of major psychiatric disorders. After controlling for the effect of age, IQ was significantly lower in the familial compared to the nonfamilial group of VCFS patients. Rate of psychiatric disorders was similarly high in both groups. The familial group had fewer cardiac and palate anomalies. A significant negative correlation was found between IQ and age. Most of the adults with familial VCFS were neuropsychiatrically disabled. Thus, although familial VCFS seems to be associated with a milder physical phenotype than nonfamilial VCFS, the neuropsychiatric deficits are significant in both types, at all ages.

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