Stewart S Evelyn, Illmann Cornelia, Geller Daniel A, Leckman James F, King Robert, Pauls David L
Drs. Stewart, Illmann, Geller, and Pauls are with the Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston; Drs. Leckman and King are with the Child Study Center, Yale University School of Medicine, New Haven, CT.
Drs. Stewart, Illmann, Geller, and Pauls are with the Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston; Drs. Leckman and King are with the Child Study Center, Yale University School of Medicine, New Haven, CT..
J Am Acad Child Adolesc Psychiatry. 2006 Nov;45(11):1354-1362. doi: 10.1097/01.chi.0000251211.36868.fe.
Although attention-deficit/hyperactivity disorder (ADHD) is frequently comorbid with Tourette's disorder (TD), it is unclear whether they have a common genetic etiology. Familial relationships between DSM-IV ADHD and TD are studied in TD+ADHD, TD-only (TD-ADHD), ADHD-only (ADHD-TD), and control groups.
Case-control, direct-interview family study of 692 relatives of 75 TD+ADHD, 74 TD-only, 41 ADHD-only, and 49 control probands collected between 1999 and 2004. Age-corrected prevalence rates, odds ratios, and predictors of TD, ADHD, and OCD among relatives are estimated from blinded best-estimate diagnoses using survival Kaplan-Meier and generalized estimating equation regression analyses.
In relatives of the TD-only group, although ADHD exceeded control rates (p=.03), ADHD-TD (p=.51) rates were not increased. In the ADHD-only group, TD was increased (p=.004) but TD-ADHD rates were not increased (p=.18). Comorbid ADHD+TD diagnoses in relatives were elevated in all case groups (p<or=.03). TD in relatives predicted comorbid ADHD (p<.001), and ADHD in relatives predicted comorbid TD (p<.001). OCD in relatives predicted both ADHD (p=.002) and TD (p<.001) in relatives.
TD and ADHD are not alternate phenotypes of a single underlying genetic cause. There is an increased risk of comorbid ADHD and TD in affected families, possibly reflecting some overlapping neurobiology or pathophysiology.
尽管注意力缺陷多动障碍（ADHD）常与抽动秽语综合征（TD）共病，但尚不清楚它们是否具有共同的遗传病因。在抽动秽语综合征合并注意力缺陷多动障碍（TD+ADHD）组、单纯抽动秽语综合征（TD-ADHD）组、单纯注意力缺陷多动障碍（ADHD-TD）组和对照组中研究了DSM-IV ADHD与TD之间的家族关系。
对1999年至2004年间收集的75例TD+ADHD、74例单纯TD、41例单纯ADHD和49例对照先证者的692名亲属进行病例对照、直接访谈家庭研究。使用生存Kaplan-Meier和广义估计方程回归分析，根据盲法最佳估计诊断估计亲属中TD、ADHD和强迫症的年龄校正患病率、比值比和预测因素。
在单纯TD组的亲属中，尽管ADHD超过了对照组比率（p = 0.03），但ADHD-TD比率未增加（p = 0.51）。在单纯ADHD组中，TD增加（p = 0.004），但TD-ADHD比率未增加（p = 0.18）。所有病例组亲属中共病的ADHD+TD诊断均升高（p≤0.03）。亲属中的TD可预测共病的ADHD（p<0.001），亲属中的ADHD可预测共病的TD（p<0.001）。亲属中的强迫症可预测亲属中的ADHD（p = 0.002）和TD（p<0.001）。
TD和ADHD不是单一潜在遗传原因的交替表型。在受影响的家庭中，ADHD和TD共病的风险增加，这可能反映了一些重叠的神经生物学或病理生理学。
