Health, Medicine, and Society, University of Cambridge, Cambridge, UK.
Orphanet J Rare Dis. 2021 Apr 8;16(1):165. doi: 10.1186/s13023-021-01767-8.
The mucopolysaccharidoses (MPS) are a group of rare, genetic, lysosomal storage disorders characterized by progressive, multisystemic accumulation of glycosaminoglycans. Individuals with severe MPS often present with significant neurological involvement and may exhibit challenging behaviors, including hyperactivity, aggression, and sleep disturbance. These behaviors can cause adverse outcomes and necessitate the development of specific measures to support affected families. Through an analysis of the results reported by Hoffmann et al. in their recent study, this letter outlines important factors that must be considered when evaluating the impact of challenging behaviors associated with MPS, including treatment history, age, sibling and family relationships, the feasibility of daily caregiving, and caregiver burden. These recommendations can help guide future studies to identify the most effective coping strategies to support families of people with MPS who have challenging behaviors.
黏多糖贮积症(MPS)是一组罕见的遗传性溶酶体贮积症,其特征为糖胺聚糖进行性、多系统蓄积。严重 MPS 患者常有显著的神经受累,可能表现出具有挑战性的行为,包括多动、攻击和睡眠障碍。这些行为可能导致不良后果,需要制定具体措施来支持受影响的家庭。通过分析 Hoffmann 等人在最近的研究中报告的结果,这封信概述了在评估与 MPS 相关的具有挑战性的行为的影响时必须考虑的重要因素,包括治疗史、年龄、兄弟姐妹和家庭关系、日常护理的可行性以及照顾者负担。这些建议可以帮助指导未来的研究,以确定最有效的应对策略,为有挑战性行为的 MPS 患者的家庭提供支持。