Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
复制标题
诊断为 velo-cardio-facial 综合征的患者的双相情感障碍：染色体 22q11 的半合子缺失是否会导致双相情感障碍？
DOI：
10.1176/ajp.153.12.1541
复制
发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Shprintzen,RJ
中科院分区：
文献类型：
--
作者：
Papolos,DF;Faedda,GL;Veit,S;Goldberg,R;Morrow,B;Kucherlapati,R;Shprintzen,RJ
目的本研究的目的是对被诊断为 velo-cardio-facial 综合征的患者的精神疾病进行系统评估，这是一种涉及 40 多种躯体异常、学习障碍和行为障碍的遗传综合征，与染色体 22q11 上的微缺失有关。方法将受试者转诊进行精神病诊断评估，不考虑年龄或既往精神病史。为了对年龄范围为 5 至 34 岁的患者建立 DSM-III-R 共识临床诊断，使用了儿童和青少年诊断访谈 - 修订版或 DSM-III-R 结构化临床访谈 (SCID)。对现有的医疗和精神病学记录进行了审查，并由两名研究精神病学家进行了临床访谈，以验证《儿童和青少年诊断访谈修订版》中报告的具体症状和综合征，并使用 SCID 来阐明症状的时间顺序外观和持续时间。结果在这组未经选择的静脉-心脏-面部综合征患者中，64%（N = 16 of 25）符合 DSM-III-R儿童晚期或青春期早期完全综合征发作的一系列双相情感障碍的标准（平均发病年龄 = 12 岁，SD = 3）。此外，20%（N = 5）符合DSM-III-R关于注意缺陷多动障碍（ADHD）的标准，而16%（N = 4）符合注意力缺陷障碍但不存在多动的标准。与之前关于精神分裂症高患病率的报道相比，没有一名患者被诊断为精神分裂症，只有四名患者在患病阶段出现精神病症状，年龄均在 20 多岁或 30 多岁。 结论 鉴于双相情感障碍在一般人群中的患病率估计为 1.5%，平均发病年龄为 24 岁，这些发现支持了 velo-cardio-facial 之间异常强烈的关联。综合征和早发性双相情感障碍，并表明 22q11 染色体位点缺失的基因可能参与其发病机制。如果得到证实，这些发现可能会为双相谱系障碍的分子基础提供新的、富有成果的研究路线。
ObjectiveThe purpose of this study was to conduct a systematic assessment of psychiatric illness in patients diagnosed with velo-cardio-facial syndrome, a genetic syndrome that involves over 40 somatic anomalies, learning disabilities, and behavioral disorders and is associated with a microdeletion on chromosome 22q11.MethodSubjects were referred for psychiatric diagnostic evaluation without regard to age or previous psychiatric history. In order to establish DSM-III-R consensus clinical diagnoses for patients who ranged in age from 5 to 34 years, the Diagnostic Interview for Children and Adolescents--Revised or the Structured Clinical Interview for DSM-III-R (SCID) was used. A review of available medical and psychiatric records and a clinical interview performed by two research psychiatrists to validate specific symptoms and syndromes reported in the Diagnostic Interview for Children and Adolescents--Revised and the SCID were used to elucidate the chronological appearance and duration of symptoms.ResultsSixty-four percent (N= 16 of 25) of this unselected series of patients with velo-cardio-facial syndrome met DSM-III-R criteria for a spectrum of bipolar disorders with full syndromal onset in late childhood or early adolescence (mean age at onset= 12 years, SD= 3). In addition, 20%(N= 5) met DSM-III-R criteria for attention deficit hyperactivity disorder (ADHD), while 16%(N= 4) met criteria for attention deficit disorder without hyperactivity. In contrast to previous reports of a high prevalence of schizophrenia, none of the patients was diagnosed with schizophrenia, and only four had psychotic symptoms during a phase of their illness, all in their 20s or 30s.ConclusionsGiven that the prevalence of bipolar disorder in the general population is estimated to be 1.5% and that the average age at onset is 24, these findings support an unusually strong association between velo-cardio-facial syndrome and early-onset bipolar disorder and suggest that a gene deleted at the 22q11 chromosomal locus may be involved in its pathogenesis. If confirmed, these findings may provide a new and fruitful line of investigation into the molecular basis of bipolar spectrum disorders.