Comings D E, Comings B G
Department of Medical Genetics, City of Hope National Medical Center, Duarte, CA 91010.
Am J Hum Genet. 1987 Nov;41(5):701-41.
Tourette syndrome (TS) is a common, hereditary, neurobehavioral disorder of childhood. To determine the frequency of various behavioral manifestations, we have compared 47 random normal controls to 246 patients with TS, 17 with attention-deficit disorder (ADD), and 15 with ADD secondary to a TS gene (ADD 2(0) TS). All subjects were examined prospectively with a 425-item questionnaire based on the Diagnostic Interview Schedule and the Diagnostic and Statistical Manual of Mental Disorders (DSM III). The TS patients were divided into grade 1 (too mild to treat [17.5%]), grade 2 (requiring treatment [58.9%]), and grade 3 (severe [23.6%]). Patients in all three grades of TS were significantly different from controls for DSM III symptoms of inattention, impulsivity, and hyperactivity. Sixty-two percent of TS patients had ADD, compared with 6.3% of controls; and 48.8% had ADD with hyperactivity (ADDH), compared with 4.2% of controls. In the majority of TS patients, the natural history of the disease was to start with ADDH and 2.4 years later develop motor and vocal tics. Among TS patients, 39% had previously received medication for ADDH or behavior problems, compared with 2% of the controls. Although stimulants can occasionally exacerbate tics, there was no evidence that stimulants cause TS and they are often a valuable adjunct to the treatment of TS. It is estimated that 10%-30% of ADDH is due to or associated with the presence of a TS gene. TS patients had a significantly increased frequency of (1) attending classes for the educationally handicapped, (2) placement in classes for the severely emotionally disturbed, (3) attending any special classes, (4) severe test anxiety, (5) stuttering, (6) letter, number, or word reversal, (7) reading very slowly, and (8) poor retention of material read. A reading-problem score (dyslexia) greater than or equal to 3 was present in 26.8% of TS patients, compared with 4.2% of controls. Number reversal, word reversal, and poor retention were significant even for the TS patients with tics too mild to treat. The multiple ways in which TS impacts school performance, as well as potential remedies, are discussed.
抽动秽语综合征(TS)是一种常见的、遗传性的儿童神经行为障碍。为了确定各种行为表现的发生率,我们将47名随机选取的正常对照者与246例TS患者、17例注意力缺陷障碍(ADD)患者以及15例继发于TS基因的ADD(ADD 2(0)TS)患者进行了比较。所有受试者均使用基于《诊断访谈表》和《精神障碍诊断与统计手册》(DSM III)的425项问卷进行前瞻性检查。TS患者被分为1级(症状太轻无需治疗[17.5%])、2级(需要治疗[58.9%])和3级(严重[23.6%])。TS三个级别的患者在注意力不集中、冲动和多动的DSM III症状方面与对照组有显著差异。62%的TS患者患有ADD,而对照组为6.3%;48.8%的患者患有伴多动的ADD(ADDH),对照组为4.2%。在大多数TS患者中,疾病的自然病程是始于ADDH,2.4年后出现运动性和发声性抽动。在TS患者中,39%曾因ADDH或行为问题接受过药物治疗,而对照组为2%。尽管兴奋剂偶尔会加重抽动,但没有证据表明兴奋剂会导致TS,而且它们常常是治疗TS的一种有价值的辅助药物。据估计,10% - 30%的ADDH是由TS基因引起或与之相关。TS患者在以下方面的发生率显著增加:(1)参加针对学习障碍者的课程,(2)被安置在严重情绪障碍班级,(3)参加任何特殊课程,(4)严重的考试焦虑症,(5)口吃,(6)字母、数字或单词颠倒,(7)阅读非常缓慢,(8)对所读材料的记忆力差。26.8%的TS患者阅读问题评分(诵读困难)大于或等于3,而对照组为4.2%。即使对于抽动症状太轻无需治疗的TS患者,数字颠倒、单词颠倒和记忆力差也很明显。文中讨论了TS影响学校表现的多种方式以及可能的补救措施。