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假设二:妥瑞氏综合征是包括正常大脑发育在内的临床谱系的一部分。

Hypothesis II: Tourette's syndrome is part of a clinical spectrum that includes normal brain development.

作者信息

Kurlan R

机构信息

Department of Neurology, University of Rochester School of Medicine and Dentistry, NY.

出版信息

Arch Neurol. 1994 Nov;51(11):1145-50. doi: 10.1001/archneur.1994.00540230083017.

Abstract

Several lines of evidence suggest that the typically associated clinical features of Tourette's syndrome (TS), ie, tics, obsessive-compulsive behavior, inattention, and hyperactivity, commonly occur during childhood development. I hypothesize that TS is expressed in children as a clinical spectrum that includes a range of increasing functional impairment, indicating various degrees of abnormality in basal ganglia development. The mildest form, "developmental" TS, includes largely asymptomatic features and is estimated to occur in at least 3% of all children. Further along the spectrum are children with mild to moderate TS, who have school and behavioral problems; up to 25% of children requiring special education may be classified within this group. At the extreme end of the spectrum is the smallest group, patients with "full-blown" TS, characterized by more severe and often disabling symptoms. I propose that genetic influences are most important in determining the severity of TS along the clinical spectrum but that environmental factors may play a role. This hypothesis has implications for the understanding and treatment of childhood school and behavioral problems and the search for the TS genetic defect.

摘要

多项证据表明,抽动秽语综合征(TS)通常相关的临床特征,即抽动、强迫行为、注意力不集中和多动,在儿童发育过程中普遍出现。我推测,TS在儿童中表现为一种临床谱系,包括一系列功能损害不断增加的情况,表明基底神经节发育存在不同程度的异常。最轻微的形式,即“发育性”TS,主要包括无症状特征,估计在所有儿童中至少有3%会出现。该谱系中进一步的是患有轻度至中度TS的儿童,他们存在学校和行为问题;高达25%需要特殊教育的儿童可能属于这一组。该谱系的极端是最小的一组,即患有“全面发作”TS的患者,其特征是症状更严重且往往致残。我认为遗传影响在决定TS在临床谱系中的严重程度方面最为重要,但环境因素可能也起作用。这一假设对理解和治疗儿童学校及行为问题以及寻找TS基因缺陷具有启示意义。

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