Clinical features of 78 adults with 22q11 deletion syndrome
Clinical features of 78 adults with 22q11 deletion syndrome
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DOI：
10.1002/ajmg.a.30984
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发表时间：
2005-11-01
影响因子：
2
通讯作者：
Gatzoulis, MA
中科院分区：
文献类型：
--
作者：
Bassett, AS;Chow, EWC;Gatzoulis, MA
22q11缺失综合征（22q11DS）是一种常见的多系统表达的微缺失综合征。表型特征随年龄、确定和评估而变化。我们系统地评估了78名成年人（36名男性，42名女性，平均年龄31.5岁，标准差10.5岁），通过成人先天性心脏病诊所（n = 35）、精神病学相关来源（n = 39）或受影响的受试者父母（n = 4）确定了22q11.2缺失。我们记录了需要注意的特征的终生患病率，95%置信区间（CI）不重叠为零。不包括轻微的学习困难、鼻音过重和面部完形。我们使用法洛四联症（n=31）或精神分裂症（n=31）确定的非重叠亚组来调查确定效应。43个特征符合纳入标准，在5%或更多的患者中存在，包括几个晚发（如甲状腺功能减退、胆石症）。每位患者的特征数（中位数9，范围3-22）与住院相关（P - 0.0002），排除先天性特征时，与年龄相关（P=0.02）。调整确定后，25.8% （95% CI, 9.5-42.1%）的患者有心脏异常，22.6% （95% CI, 7.0-38.2%）的患者有精神分裂症。确定亚组在其他方面的中位数和特征患病率相似。非特征性特征在22q11DS中很常见。调整确定效应是很重要的。许多可治疗的条件可以预期和特征可以积累随着时间的推移。该结果对临床评估和管理、遗传咨询和病理生理机制研究具有指导意义。(c) 2005 Wiley-Liss, Inc。
22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.5, SD 10.5 years) with a 22q11.2 deletion ascertained through an adult congenital cardiac clinic (n = 35), psychiatric-related sources (n 39), or as affected parents of subjects (n = 4). We recorded the lifetime prevalence of features requiring attention, with 95% confidence intervals (CI) not overlapping zero. Subtle learning difficulties, hypernasality and facial gestalt were not included. We investigated ascertainment effects using non-overlapping subgroups ascertained with tetralogy of Fallot (n = 31) or schizophrenia (n=31). Forty-three features met inclusion criteria and were present in 5% or more patients, including several of later onset (e.g., hypothyroidism, cholelithiasis). Number of features per patient (median 9, range 3-22) correlated with hospitalizations (P - 0.0002) and when congenital features were excluded, with age (P=0.02). Adjusting for ascertainment, 25.8% (95% CI, 9.5-42.1%) of patients had cardiac anomalies and 22.6% (95% CI, 7.0-38.2%) had schizophrenia. Ascertainment subgroups were otherwise similar in median number and prevalence of features. Non-characteristic features are common in 22q11DS. Adjusting for ascertainment effects is important. Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms. (c) 2005 Wiley-Liss, Inc.