Shapiro Neuropsychology Consulting, LLC, 820 NW 12th Avenue, Portland, OR, 97209, USA.
University of Minnesota, Minneapolis, MN, USA.
Orphanet J Rare Dis. 2019 Jul 8;14(1):168. doi: 10.1186/s13023-019-1150-1.
Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Caregivers face a unique set of challenges related to the complex nature of Sanfilippo B, but the burden and impact on quality of life (QoL) of caregivers is poorly defined and best practice guidance for clinicians is lacking.
An international clinical advisors meeting was convened to discuss key aspects of caregiver burden associated with Sanfilippo B based on findings from qualitative and quantitative research undertaken to identify and quantify the nature and impact of the disease on patients and caregivers.
Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties. Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.
A Sanfilippo-specific QoL questionnaire is needed that is directed at caregiver needs and burden and best practice management of these domains.
黏多糖贮积症 B 型（Sanfilippo B）属于一组罕见的溶酶体贮积症，其特征为从小就出现进行性认知能力下降、急性多动，并伴有躯体症状。照顾者面临着与 Sanfilippo B 复杂性质相关的一系列独特挑战，但照顾者的负担和对生活质量（QoL）的影响尚未明确，临床医生也缺乏最佳实践指南。
召开了一次国际临床顾问会议，根据为确定和量化疾病对患者和照顾者的性质和影响而进行的定性和定量研究的结果，讨论与 Sanfilippo B 相关的照顾者负担的关键方面。
照顾 Sanfilippo B 患者会影响家庭生活的各个方面，随着患者年龄的增长和疾病的进展而不断变化。导致照顾者负担的重要因素包括睡眠障碍、冲动和多动行为以及沟通困难。照顾者的负担在患者的整个生命周期中一直很高，再加上日常护理的身体负担，产生了累积的心理压力。
需要一种针对照顾者需求和负担以及这些领域的最佳实践管理的特定于 Sanfilippo 的 QoL 问卷。
