The Children's Hospital at Westmead, Discipline of Psychological Medicine, University of Sydney, Sydney, Australia.
Early Interv Psychiatry. 2008 Nov;2(4):262-7. doi: 10.1111/j.1751-7893.2008.00087.x.
Velo-cardio-facial syndrome is the most common micro deletion syndrome in man, with the typically deleted region in the 22q11area, an area that contains many genes with possible links to mental illnesses. The syndrome phenotype includes multiple physical abnormalities, learning disorders and a greatly increased risk of developing a psychotic disorder. A series of three cases is presented to describe some of the psychiatric manifestations of the velo-cardio-facial syndrome.
The three young people presented here all had an illness of long duration that was difficult to treat, with significant side effects of treatment and varying degrees of recovery.
As more children with genetic syndromes are identified early and monitored by genetic clinics and other paediatric services, there is an opportunity for psychiatric services to provide early intervention for a group of patients who are likely to have a poor response to treatment if they present with an advanced psychosis. Studying the deletions in the 22q11 area also has great potential for investigating possible causes of a genetic vulnerability to psychotic illness.
心脏面部血管发育不良综合征是人类最常见的微缺失综合征，典型缺失区域在 22q11 区域，该区域包含许多可能与精神疾病有关的基因。该综合征的表型包括多种身体异常、学习障碍以及精神障碍发病风险大大增加。本系列介绍了三个病例，以描述心脏面部血管发育不良综合征的一些精神表现。
这里介绍的三个年轻人都患有长期且难以治疗的疾病，治疗存在严重的副作用，且恢复程度各不相同。
随着越来越多的患有遗传综合征的儿童被遗传诊所和其他儿科服务机构早期识别和监测，精神科服务有机会为一组患者提供早期干预，这些患者如果出现晚期精神病，可能对治疗的反应不佳。研究 22q11 区域的缺失也具有很大的潜力，可以研究精神疾病遗传易感性的可能原因。
