This study's purpose was to provide qualitative evidence to support the development of two observer‐reported outcome measures assessing the physical symptoms/complications of achondroplasia in children and impacts on children's quality of life. Individual/focus group concept elicitation interviews were conducted with parents of children aged 2 to <12 years with achondroplasia and experts. Qualitative analysis of transcripts, based on an adapted grounded theory approach, informed item generation and measure development. Cognitive debriefing (CD) interviews were conducted with parents to confirm relevance and understanding. Thirty‐six parents participated in concept elicitation interviews. The analysis identified major physical symptoms/complications and impacts of achondroplasia, which informed the development of the Achondroplasia Child Experience Measures (ACEMs): ACEM—Symptom and ACEM—Impact. ACEM—Symptom was comprised of eight major symptoms/complications including pain (58%), ear infections/fluid in ear (56%), and low stamina/tiring easily (56%). ACEM—Impact consisted of 31 major impacts in the domains of daily functioning, emotional well‐being, social well‐being, and need for assistance/adaptive devices. Impacts on functioning included difficulty reaching objects/high places (89%) and toileting (67%). Emotional impacts included feeling different (53%) and feeling frustrated/annoyed (47%). Social impacts included difficulty participating in sports/physical play (86%) and being treated as younger than age (83%). Following CD interviews with 16 additional parents, validation‐ready ACEM measures were generated. The study improves our understanding of the experiences of children with achondroplasia and provides evidence supporting the content validity of the ACEMs. Validated ACEMs may be used to assess potential benefits of future treatments for comorbidities of achondroplasia.

中文翻译：

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评估软骨发育不良儿童的身体症状，日常功能和健康状况

这项研究的目的是提供定性证据，以支持两项观察者报告的结局指标的开发，以评估儿童软骨发育不良的身体症状/并发症及其对儿童生活质量的影响。个体/焦点小组概念启发式访谈是针对2岁至12岁以下儿童的家长，软骨发育不全和专家进行的。基于适应性扎根的理论方法，对成绩单进行定性分析，有助于项目生成和度量开发。与父母进行了认知汇报（CD）访谈，以确认其相关性和理解力。三十六名父母参加了概念启发访谈。分析确定了软骨发育不良的主要身体症状/并发症和影响，该报告指导了软骨发育不全儿童体验测评（ACEM）的发展：ACEM（症状）和ACEM（影响）。ACEM—症状包括八种主要症状/并发症，包括疼痛（58％），耳部感染/耳液（56％）和低耐力/容易疲劳（56％）。ACEM-影响包括31种主要影响，涉及日常工作，情绪健康，社会幸福以及对帮助/适应性设备的需求。对功能的影响包括难以到达物体/高处（89％）和如厕（67％）。情感影响包括感觉不同（53％）和感到沮丧/烦恼（47％）。社会影响包括参加体育/体育活动的困难（86％）和未满年龄的人（83％）。在与另外16位家长进行CD访谈之后，便产生了可用于验证的ACEM措施。这项研究提高了我们对儿童软骨发育不良的经验的理解，并提供了支持ACEMs内容有效性的证据。经验证的ACEM可用于评估软骨发育不良合并症的未来治疗的潜在益处。