Sommer Rachel, Blömeke Janika, Dabs Michaela, Witt Stefanie, Bullinger Monika, Quitmann Julia
a Department of Medical Psychology, Center for Psychosocial Medicine , University Medical Center Hamburg-Eppendorf , Hamburg , Germany.
Disabil Rehabil. 2017 Dec;39(24):2499-2503. doi: 10.1080/09638288.2016.1226969. Epub 2016 Sep 16.
Achondroplasia is the most common disproportionate short stature which impacts patients' well-being. Little is known about the burden of disease in terms of functioning of patients and few disease-specific patient-reported outcome (PRO) measures exist. To understand the consequences of achondroplasia, the objective of the study was to develop an achondroplasia-specific PRO tool.
Focus group discussions including 34 German patients (age 8-18 years) and 21 parents were conducted and qualitatively analyzed. To identify relevant concepts, statements were coded according to the International Classification of Functioning, Disability and Health: Children & Youth version (ICF-CY). Upon condensation, relevant statements were reformulated as items.
1950 statements related to 125 ICF-CY categories were identified. After condensation and prioritization, 59 items were retained. These were generated based on the ICF-CY domains environmental factors (27 items), activities and participation (18 items), body functions (9 items), and body structures (5 items).
A new instrument, the Achondroplasia Personal Life Experience Scale (APLES) to assess burden of disease and functioning from the patients perspective of children and adolescents with achondroplasia has been developed in its pilot version based on the classification of the ICF-CY. Psychometric performance of the APLES is currently being examined. Implications for Rehabilitation Using the ICF-CY within the development of a disease-specific instrument to assess burden of disease and functioning provides guidance for clinicians and researchers in the selection of appropriate instruments complying with ICF categories. Qualitative research based on focus group interviews is an effective method to elicit experiences, beliefs, points of view, understandings, perceptions, impressions, needs and concerns as well as attitudes from the perspective of the individuals on a specific topic such as functioning. Direct assessment of the patient perspective is necessary to thoroughly understand a patient's experience of disease and treatment, the impact on their functioning and relevant health-care needs. Including the perspective of the patient and its family is an important component in the provision of health-care services. Patient-reported outcomes are not only important for the development of interventions and the use in clinical trials but can also be used in medical decision-making processes.
软骨发育不全是最常见的身材不成比例矮小症，会影响患者的健康。关于该病在患者功能方面的疾病负担了解甚少，且几乎没有针对该疾病的患者报告结局（PRO）测量方法。为了解软骨发育不全的后果，本研究的目的是开发一种针对软骨发育不全的PRO工具。
开展了焦点小组讨论，包括34名德国患者（年龄8至18岁）和21名家长，并进行了定性分析。为确定相关概念，根据《国际功能、残疾和健康分类：儿童与青少年版》（ICF-CY）对陈述进行编码。经过浓缩后，将相关陈述重新表述为条目。
确定了与125个ICF-CY类别相关的1950条陈述。经过浓缩和排序后，保留了59个条目。这些条目是基于ICF-CY领域的环境因素（27条）、活动与参与（18条）、身体功能（9条）和身体结构（5条）生成的。
基于ICF-CY分类，已开发出一种新工具——软骨发育不全个人生活体验量表（APLES）的试用版，用于从软骨发育不全儿童和青少年患者的角度评估疾病负担和功能。目前正在检验APLES的心理测量性能。康复的意义在开发一种针对特定疾病的工具以评估疾病负担和功能时使用ICF-CY，为临床医生和研究人员选择符合ICF类别的合适工具提供了指导。基于焦点小组访谈的定性研究是一种有效的方法，可以从个体角度就功能等特定主题引出经验、信念、观点、理解、认知、印象、需求和关注点以及态度。直接评估患者的观点对于全面了解患者的疾病和治疗体验、对其功能的影响以及相关医疗保健需求是必要的。纳入患者及其家庭的观点是提供医疗保健服务的一个重要组成部分。患者报告的结局不仅对干预措施的开发和在临床试验中的应用很重要，还可用于医疗决策过程。
