The Brod Group, Mill Valley, California, USA.
Ascendis Pharma, Inc., Palo Alto, California, USA.
Am J Med Genet A. 2022 Feb;188(2):454-462. doi: 10.1002/ajmg.a.62534. Epub 2021 Oct 13.
The study aimed to explore how having achondroplasia affects older children and adolescents' day-to-day functioning and well-being. Individual/focus group interviews were conducted with older children/adolescents between the ages of 9 to <18 years and diagnosed with achondroplasia to elicit key concepts. An adapted grounded theory approach informed the qualitative analysis of interview data. Thirty-two children and adolescents completed interviews. Study results revealed five impact domains, including physical health, functioning, school impacts, emotional well-being, and social well-being. Frequently reported impacts on physical health included low stamina/tiring easily (81%) and back pain (69%). Key impacts in the functioning domain were difficulty with reaching objects or high places (84%) and walking long distances (75%). Emotional impacts included feeling different (63%), worried/scared (47%), and embarrassed/self-conscious (47%). Impacts on social well-being included difficulty with sports or physical play (81%) and others treating child as younger than their actual age (75%). The most frequent school impact was trouble participating in physical education (81%). A preliminary theoretical model depicting the experiences of older children/adolescents with achondroplasia was constructed based on the analysis. The preliminary theoretical model of older children and adolescents' experiences of living with achondroplasia may be used to inform future research and clinical practice.
本研究旨在探讨软骨发育不全症对 9 至<18 岁大龄儿童和青少年日常功能和健康的影响。对确诊患有软骨发育不全症的大龄儿童/青少年进行个体/焦点小组访谈，以引出关键概念。经过改良的扎根理论方法用于对访谈数据进行定性分析。32 名儿童和青少年完成了访谈。研究结果揭示了五个影响领域，包括身体健康、功能、学校影响、情绪健康和社会健康。经常报告的身体健康影响包括体力不支/容易疲劳（81%）和背痛（69%）。功能领域的主要影响包括难以够到高处或远处的物体（84%）和长距离行走（75%）。情绪影响包括感到与众不同（63%）、担忧/恐惧（47%）和尴尬/害羞（47%）。社会健康方面的影响包括难以参与体育或体力活动（81%）和他人将孩子视为比实际年龄小（75%）。最常见的学校影响是难以参加体育教育（81%）。根据分析，构建了一个描述软骨发育不全症大龄儿童和青少年患者体验的初步理论模型。该初步理论模型可用于指导未来的研究和临床实践。
