Gothelf D, Aviram-Goldring A, Burg M, Steinberg T, Mahajnah M, Frisch A, Fennig S, Zalsman G, Weizman A
The Behavioral Neurogenetics Center, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
J Neural Transm (Vienna). 2007;114(11):1495-501. doi: 10.1007/s00702-007-0766-9. Epub 2007 Jun 8.
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.
腭心面综合征（VCFS）具有身体表现和神经精神残疾的特征。约6% - 28%的病例为家族性。本研究的目的是比较家族性和非家族性VCFS患者的临床特征，特别关注认知和精神残疾。此外，通过病例 vignettes 强调了父母和子女均受影响的家庭应对该疾病的复杂性。将来自六个家庭的16例VCFS患者与63例非家族性VCFS患者进行身体参数、智商和主要精神障碍发生率的比较。在控制年龄影响后，家族性VCFS患者组的智商显著低于非家族性组。两组的精神障碍发生率同样高。家族性组的心脏和腭部异常较少。智商与年龄之间存在显著负相关。大多数家族性VCFS的成年人存在神经精神残疾。因此，尽管家族性VCFS似乎比非家族性VCFS的身体表型更轻，但两种类型在所有年龄段的神经精神缺陷都很显著。
