Department of Clinical Neuro Sciences, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India.
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India.
BMC Neurol. 2020 Mar 12;20(1):87. doi: 10.1186/s12883-020-01671-x.
Huntington's disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent 'incurability' often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India.
We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring.
Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n = 81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p < 0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up.
This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions.
亨廷顿病（HD）是一种遗传性、常为迟发性的神经退行性疾病，被认为是一种罕见的、孤儿病。在包括印度在内的大多数中低收入国家，对其遗传相关性的研究和对受影响者的服务都不足。明显的“不治之症”往往阻碍了对症和康复护理，导致生活质量差和结果不理想。目前还没有评估印度疾病负担和结果的研究。
我们试图通过结构化访谈、从病历中获取临床数据和 UHDRS-TFC 评分，评估我们的三级保健中心在 2013 年至 2016 年间诊断为 HD 的个体的临床症状、功能、死亡率和随访情况。
在 144 名患者中，25%的患者无法追踪，另有 17 名（11.8%）已经死亡。死亡时的平均年龄和患病时间分别为 53 岁和 7 岁，这可能是由于早年自杀和其他合并症导致的。能够联系到的患者（n=81）评估了发病率和总功能能力（TFC）。平均 CAG 重复长度和 TFC 评分为 44.2 和 7.5。大多数患者（66%）处于 TFC 第一和第二阶段，可能受益于多种干预措施。TFC 评分与病程呈负相关（p<0.0001）。大多数患者（91%）都有精神疾病，包括自杀倾向（22%）。在 17 名死亡的患者中，有 3 人自杀，还有几个家庭报告其他家庭成员有自杀史。只有大约一半的患者（57%）定期进行临床随访。
这项研究表明，随访率低、自杀率高和其他精神症状、生存时间和功能结果不理想，突出了需要对大多数患者进行全面护理，因为他们似乎可以接受干预。
