Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
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DOI：
10.1186/s13023-021-02067-x
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发表时间：
2021-10-12
影响因子：
3.7
通讯作者：
Paty J
中科院分区：
文献类型：
--
作者：
Hamed A;An Haack K;Gwaltney C;Baranowski E;Stewart A;Krupnick R;Tyler M;Sparks S;Paty J
晚发性庞贝氏症（LOPD）是一种罕见的异质性疾病，表现为一系列严重程度不同的症状。确定这些症状的频率及其对患者日常生活影响的研究有限。本研究的目的是开发一种概念模型，该模型可捕获LOPD患者经历的最相关症状和功能限制，为开发新的患者报告结局（PRO）工具提供信息。 一个初步的概念模型，建立了文献综述和修订后，通过与专家临床医生的访谈，以确定重要的和相关的概念，LOPD的症状和影响。该初步模型为定性患者访谈指南的开发提供了信息，该指南用于收集患者对LOPD或其治疗相关症状和影响的看法（包括症状/影响频率和干扰水平）。患者访谈有助于进一步完善的概念模型。患者访谈的结果与文献综述和临床医生访谈进行了三角测量，以从患者的角度确定LOPD最相关和最显着的影响。肌无力、疲劳、疼痛和呼吸困难（尤其是躺下时）是患者经历的最常见和最令人不安的症状。与移动性相关的限制（例如，从坐姿站起来困难、弯腰后站起来困难）和日常生活活动（例如，参与社会/家庭活动或工作/学习的能力下降）是最常报告的影响，对患者的日常生活造成的干扰程度最高。这些确定的症状和影响被纳入新的疾病概念模型。这项定性患者访谈研究也通过文献综述和临床医生访谈获得信息，确定了LOPD对患者最常见和最相关的症状以及功能影响。研究访谈还收集了患者首选的语言来描述LOPD的症状和影响。这项研究的结果可用于开发未来的PRO工具，这些工具针对LOPD患者经历的特定症状和影响而量身定制。在线版本包含补充材料，可通过10.1186/s13023-021-02067-x获得。
Late-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients’ daily lives is limited. The objective of this study was to develop a conceptual model that captures the most relevant symptoms and functional limitations experienced by patients with LOPD, to inform the development of new patient-reported outcome (PRO) tools. A preliminary conceptual model was constructed following a literature review and revised through interviews with expert clinicians to identify important and relevant concepts regarding symptoms and impacts of LOPD. This preliminary model informed the development of a qualitative patient interview guide, which was used to gather the patient perspective on symptoms and impacts relating to LOPD or its treatment (including symptom/impact frequency and levels of disturbance). Patient interviews aided further refinement of the conceptual model. The findings from the patient interviews were triangulated with the literature review and clinician interviews to identify the most relevant and significant effects of LOPD from the patient perspective. Muscle weakness, fatigue, pain, and breathing difficulties (especially while lying down) were the most common and highly disturbing symptoms experienced by patients. Limitations associated with mobility (e.g., difficulty rising from a sitting position, getting up after bending) and activities of daily living, (e.g., reduced ability to participate in social/family activities or work/study) were the most frequently reported impacts with the highest levels of disturbance on the patient’s daily life. These identified symptoms and impacts were included in the new conceptual model of disease. This qualitative patient interview study, also informed by a literature review and clinician interviews, identified the most frequent and relevant symptoms and the functional impact of LOPD on patients. The study interviews also captured the patient-preferred language to describe symptoms and impacts of LOPD. The results from this study can be used to develop future PRO instruments that are tailored to the specific symptoms and impacts experienced by patients with LOPD. The online version contains supplementary material available at 10.1186/s13023-021-02067-x.
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DOI：
10.1097/01.gim.0000218152.87434.f3
发表时间：
2006-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kishnani PS;Steiner RD;Bali D;Berger K;Byrne BJ;Case LE;Crowley JF;Downs S;Howell RR;Kravitz RM;Mackey J;Marsden D;Martins AM;Millington DS;Nicolino M;O'Grady G;Patterson MC;Rapoport DM;Slonim A;Spencer CT;Tifft CJ;Watson MS
通讯作者：
Watson MS
影响因子：
9.9
作者：
Kuperus, Esther;Kruijshaar, Michelle E.;van der Beek, Nadine A. M. E.
通讯作者：
van der Beek, Nadine A. M. E.
影响因子：
3.4
作者：
Merkies, ISJ;Schmitz, PIM;van Doorn, PA
通讯作者：
van Doorn, PA
影响因子：
3
作者：
MCHORNEY, CA;WARE, JE;RACZEK, AE
通讯作者：
RACZEK, AE
影响因子：
5
作者：
Aslan, Goksen Kuran;Huseyinsinoglu, Burcu Ersoz;Kiyan, Esen
通讯作者：
Kiyan, Esen