Department of Genetics/UFRGS, Medical Genetics Service/HCPA, DR BRASIL Research Group/HCPA, and INAGEMP, Rua Ramiro Barcelos 2350, Porto Alegre, RS, 90035-903, Brazil.
Department of Gastroenterology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Orphanet J Rare Dis. 2020 Apr 19;15(1):97. doi: 10.1186/s13023-020-01368-x.
The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors.
MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sense-specific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.
黏多糖贮积症（MPS）是一种溶酶体贮积症，与进行性多器官和骨骼异常有关。临床表现可影响五种感官中的每一种：听觉、视觉、嗅觉、味觉和触觉。2018 年 5 月 24 日至 26 日，46 名在管理 MPS 症状方面具有专业知识的专家和专门评估和管理每一种感官障碍的专家在葡萄牙里斯本举行了“MPS 和五种感官”会议，讨论了一种或多种感官丧失如何影响 MPS 患者的日常生活活动（ADL）和生活质量（QoL），以及评估和管理这些个体感官丧失的最佳实践。会议证实，MPS 会对感官造成严重影响，但这些损伤如何从患者角度影响 ADL 和整体 QoL 尚不清楚。通过以标准化的方式在国际上前瞻性地收集患者报告的结果（PRO）数据，使用标准工具包，可以获得更好的见解。会议结束后，进行了系统的文献回顾和对现有的已发表问卷的选择，以确定相关的 PRO 工具。搜索策略确定了 33 种用于听力的 PRO 工具、30 种用于言语的 PRO 工具、125 种用于视力的 PRO 工具、49 种用于触觉（包括疼痛和上肢功能）的 PRO 工具和 15 种用于嗅觉/味觉的 PRO 工具。根据一些标准，如对 MPS 的适用性/相关性、在不同国家（语言）/文化中的适用性、英语可用性、易用性、验证和常模数据，对这些工具进行了进一步选择，最终确定了 11 种工具。除了这些特定于感觉的 PRO 工具外，还选择了一种一般的 QoL 工具，即 EuroQol（EQ）-5D-5L，用于评估整体 QoL 和揭示应对行为。
MPS 会影响五种感官中的每一种，但目前对 MPS 患者感觉损伤对 QoL/ADL 的影响知之甚少。使用特定于感觉的患者报告的结果工具和一般的 QoL 工具以标准化的方式收集数据可能会填补当前的知识空白。
