Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often accompanied with a delay in diagnosis. We aimed to describe this rare group of patients, especially with regard to socio-medical aspects and individual or common treatment strategies. In addition, we differentiated between juvenile and the recently defined pediatric HD population (onset < 18 years). Methods: Out of 2593 individual HD patients treated within the last 25 years in the Huntington Centre, North Rhine-Westphalia (NRW), 32 subjects were analyzed with an early onset younger than 21 years (1.23%, juvenile) and 18 of them younger than 18 years of age (0.69%, pediatric). Results: Beside a high degree of school problems, irritability or aggressive behavior (62.5% of pediatric and 31.2% of juvenile cases), serious problems concerning the social and family background were reported in 25% of the pediatric cohort. This includes an attempted rape and robbery at the age of 12, as problems caused by the affected children, but also alcohol-dependency in a two-year-old induced by a non-HD affected stepfather. A high degree of suicidal attempts and ideations (31.2% in pediatric and 33.3% in juvenile group) was reported, including drinking of solvents, swallowing razor blades or jumping from the fifth floor with following incomplete paraparesis. Beside dopaminergic drugs for treatment of bradykinesia, benzodiazepines and tetrabenazine for treatment of dystonia, cannabinoids, botulinum toxin injection and deep brain stimulation were used for the improvement of movement disorders, clozapine for the treatment of tremor, and dopa-induced hallucinations and zuclopenthixole for the treatment of severe aggressive behavior. Conclusions: Beside abnormalities in behavior from an early age due to HD pathology, children seem to have higher socio-medical problems related to additional burden caused by early affected parents, instable family backgrounds including drug abuse of a parent or multiple changes of partners. Treatment required individualized strategies in many cases.

中文翻译：

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青少年和儿童 HD 患者的临床表现：回顾性病例系列。

背景：关于亨廷顿病（HD）儿童的临床表现和病程的研究很少。青少年HD（发病≤20岁）的病例报告描述了异质的运动和非运动症状，通常伴有诊断延迟。我们的目的是描述这一罕见的患者群体，特别是在社会医学方面以及个人或常见的治疗策略方面。此外，我们还区分了青少年和最近定义的儿科 HD 人群（发病 < 18 岁）。方法：在过去 25 年内在北莱茵-威斯特法伦州 (NRW) 亨廷顿中心接受治疗的 2593 名 HD 患者中，对 32 名早发年龄小于 21 岁的受试者（1.23%，青少年）进行了分析，其中 18 名年龄更小18 岁以下（0.69%，儿科）。结果：除了严重的学校问题、烦躁或攻击性行为（62.5% 的儿科病例和 31.2% 的青少年病例）外，25% 的儿科群体还报告存在与社会和家庭背景有关的严重问题。这包括 12 岁时的强奸和抢劫未遂事件，这些问题是由受影响的儿童造成的，还包括由非 HD 受影响的继父引起的两岁儿童的酒精依赖。据报告，自杀企图和意念程度很高（儿童组为 31.2%，青少年组为 33.3%），包括饮用溶剂、吞咽刀片或从五楼跳下并出现不完全性截瘫。除了多巴胺能药物治疗运动迟缓、苯二氮卓类和丁苯那嗪治疗肌张力障碍外，大麻素、肉毒毒素注射和深部脑刺激用于改善运动障碍，氯氮平用于治疗震颤，多巴引起的幻觉和珠氯噻索用于治疗严重攻击行为的治疗。结论：除了由于亨廷顿病病理学导致的幼年行为异常之外，儿童似乎还存在较高的社会医学问题，这些问题与早期受影响的父母造成的额外负担、不稳定的家庭背景（包括父母滥用药物或多次更换伴侣）有关。在许多情况下，治疗需要个体化策略。