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与腭心面综合征患者注意力缺陷多动障碍相关的遗传、发育和身体因素。

Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.

作者信息

Gothelf Doron, Presburger Gadi, Levy Darya, Nahmani Ariela, Burg Merav, Berant Michael, Blieden Leonard C, Finkelstein Yehuda, Frisch Amos, Apter Alan, Weizman Abrahahm

机构信息

Behavioral Genetics Clinic, Feinberg Child Study Center, Schneider Children's Medical Center of Israel, 14 Kaplan Street, PO Box 559, Petah Tiqwa 49202, Israel.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):116-21. doi: 10.1002/ajmg.b.20144.

Abstract

Velocardiofacial syndrome (VCFS) is a relatively common developmental neuropsychiatric syndrome caused by a 22q11 microdeletion. There is an extensive variability in the phenotypic expression of this disease. The most common psychiatric disorder in VCFS is attention-deficit/hyperactivity disorder (ADHD), affecting 35-55% of patients. This study investigated the association of familial, developmental, and physical factors with the occurrence of ADHD in 51 patients with nonfamilial VCFS. Twenty-one patients (41.2%) were diagnosed with ADHD. There was a significantly greater prevalence of ADHD in the first-degree relatives of the patients with ADHD than in those without (OR = 5.9, 95% CI = 1.6-22.1, P = 0.006). No differences were noted between the ADHD and non-ADHD groups in mean Obstetric Complication Scale Score, gestational age, birth weight, age at first words, walking, and achieving bowel control. The two groups also had similar IQ scores (total, verbal, and performance) and had a similar average degree of severity of facial dysmorphism and cardiac and cleft anomalies. These findings indicate that ADHD in VCFS has a genetic contribution and the patients' VCFS-related developmental factors and physical illnesses play a lesser role.

摘要

腭心面综合征(VCFS)是一种相对常见的发育性神经精神综合征,由22q11微缺失引起。这种疾病的表型表达存在广泛差异。VCFS中最常见的精神障碍是注意力缺陷/多动障碍(ADHD),影响35%-55%的患者。本研究调查了51例非家族性VCFS患者的家族、发育和身体因素与ADHD发生之间的关联。21例患者(41.2%)被诊断为ADHD。ADHD患者的一级亲属中ADHD的患病率显著高于无ADHD患者(OR=5.9,95%CI=1.6-22.1,P=0.006)。ADHD组和非ADHD组在平均产科并发症量表评分、孕周、出生体重、开始说话的年龄、走路和实现排便控制的年龄方面没有差异。两组的智商得分(总分、语言和操作)也相似,面部畸形、心脏和腭裂异常的平均严重程度也相似。这些发现表明,VCFS中的ADHD有遗传因素,而患者与VCFS相关的发育因素和身体疾病起的作用较小。

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