Presymptomatic Testing for Huntington's Disease in Mexico: 28 Years of Experience

IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Adriana Ochoa-Morales , David José Dávila-Ortiz de Montellano , Mireya Chávez-Oliveros , Yaneth Rodríguez-Agudelo , Mariana Longoria-Ibarrola , Ana Luisa Sosa-Ortiz , Marie-Catherine Boll , Aurelio Jara-Prado , Petra Yescas-Gómez , Jorge Guerrero-Camacho , Miguel Ángel Ramírez-García
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引用次数: 0

Abstract

Introduction

Huntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) since 1995.

Objective

To describe the main clinical and demographic characteristics of at-risk HD individuals who applied to the PT program, the reasons for seeking it, and the molecular results.

Methods

A cross-sectional study was conducted with sociodemographic and clinical data of all PT applicants from 1995–2023. Reasons for seeking PT were assessed using a modified questionnaire. In addition, anxiety, and depressive symptoms before and after PT were evaluated with Beck's instruments; cognitive impairment (CI) was assessed with the Mini-Mental State Examination (MMSE) and molecular results.

Results

214 people applied for PT (2.1% of the at-risk population identified in our center); 63% were women (mean age of 37.11 years). 204 (95.3%) were accepted and 190 received results. 70% indicated that the main reason for applying for PT was to inform their offspring about the risk of inheriting HD. Significant differences were observed in the reasons for seeking PT by age group. Although some subjects received treatment, Beck's instrument scores did not indicate special attention or pharmacological treatment. The MMSE showed probable CI in 20 subjects. Of those who received results, 37% were carriers of a full penetrance allele.

Conclusion

Our center has the only formal PT program for HD in Mexico. The reasons for seeking PT are varied and age-related. Although PT is offered to all subjects at risk for HD, uptake remains low.

墨西哥亨廷顿氏病的症状前检测:28 年的经验
导言亨廷顿氏病(HD)是一种显性遗传的神经退行性疾病。方法 对 1995-2023 年间所有亨廷顿氏病申请者的社会人口学和临床数据进行了横断面研究。使用修改过的调查问卷对申请辅助治疗的原因进行了评估。结果214人申请了PT(占本中心高危人群的2.1%);63%为女性(平均年龄37.11岁)。204人(95.3%)被接受,190人获得结果。70%的人表示,申请PT的主要原因是为了让他们的后代了解遗传HD的风险。不同年龄组的受试者寻求治疗的原因存在显著差异。虽然一些受试者接受了治疗,但贝克氏量表的得分并不表明他们受到了特别关注或接受了药物治疗。20 名受试者的 MMSE 显示可能存在 CI。结论:我们的中心拥有墨西哥唯一一项针对 HD 的正规 PT 项目。寻求 PT 的原因多种多样,且与年龄有关。虽然所有有 HD 风险的受试者都可接受 PT,但接受率仍然很低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Archives of Medical Research
Archives of Medical Research 医学-医学:研究与实验
CiteScore
12.50
自引率
0.00%
发文量
84
审稿时长
28 days
期刊介绍: Archives of Medical Research serves as a platform for publishing original peer-reviewed medical research, aiming to bridge gaps created by medical specialization. The journal covers three main categories - biomedical, clinical, and epidemiological contributions, along with review articles and preliminary communications. With an international scope, it presents the study of diseases from diverse perspectives, offering the medical community original investigations ranging from molecular biology to clinical epidemiology in a single publication.
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