Jolin Edith M, Weller Elizabeth B, Weller Ronald A
Children's Hospital of Philadelphia, Department of Child and Adolescent Psychiatry, 3440 Market Street, Suite 200, Philadelphia, PA 19104, USA.
Curr Psychiatry Rep. 2006 Apr;8(2):96-101. doi: 10.1007/s11920-006-0005-3.
A neuropsychiatric phenotype specific to the velocardiofacial syndrome (VCFS) has not yet been identified. Neuropsychological research suggests that children with VCFS have problems in the domains of cognition, attention, and social interaction. Preliminary psychiatric studies of children and adolescents with VCFS suggest that they may be at higher risk than their nonaffected peers to develop mood disorders (including bipolar disorder), anxiety disorders, and attention deficit disorders. An unresolved question remains whether adults are at higher risk to develop psychotic mood disorders or schizophrenia in early adulthood. A research paradigm developed by Robins and Guze for the validation of psychiatric disorders may be helpful. Systematic studies in the areas of phenomenology, neurobiology, heredity, and the natural course of VCFS may clarify its psychiatric manifestations. Better understanding of the neuropsychiatric phenotype associated with VCFS will better inform ongoing genetic research. The study of VCFS holds the potential to give important insight into the pathogenesis of psychiatric disorders.
目前尚未确定与腭心面综合征（VCFS）相关的神经精神表型。神经心理学研究表明，患有VCFS的儿童在认知、注意力和社交互动方面存在问题。对患有VCFS的儿童和青少年进行的初步精神病学研究表明，他们可能比未受影响的同龄人更容易患上情绪障碍（包括双相情感障碍）、焦虑症和注意力缺陷障碍。一个尚未解决的问题是，成年人在成年早期患精神病性情绪障碍或精神分裂症的风险是否更高。罗宾斯和古泽提出的用于验证精神疾病的研究范式可能会有所帮助。在现象学、神经生物学、遗传学以及VCFS自然病程等领域开展的系统研究，可能会阐明其精神症状表现。更好地了解与VCFS相关的神经精神表型，将为正在进行的基因研究提供更充分的信息。对VCFS的研究有可能为精神疾病的发病机制提供重要见解。
