Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, New York, USA.
Am J Med Genet A. 2021 Mar;185(3):695-701. doi: 10.1002/ajmg.a.62018. Epub 2020 Dec 24.
Studies examining quality of life (QoL) in adults with achondroplasia are limited. We report on QoL and psychiatric illness diagnoses in a modern cohort of adults with achondroplasia. SF-36 Health Survey scores from adults with achondroplasia were compared to general population scores. Demographics, physical measurements, and psychiatric illness diagnoses were recorded from medical records. The achondroplasia population had lower scores than the general population in all categories. Most people with achondroplasia (56%) had a diagnosed psychiatric illness. Those with a diagnosed psychiatric illness had lower scores in physical functioning, role limitations due to physical and emotional health, and mental health. Pain, energy/fatigue, and general health scale scores were roughly equivalent (<2 points difference). Social functioning was >15 points higher in individuals with psychiatric illness diagnoses. Adults with achondroplasia report significantly lower physical and mental well-being and had nearly 3× the rate of psychiatric illness diagnosis than the general population, highlighting the importance of total care for this population. Healthcare providers must understand the physical and mental comorbidities of achondroplasia, beyond short stature and orthopedic issues, so they can proactively improve QoL across the lifespan for patients and families.
研究表明，患有软骨发育不全症的成年人的生活质量（QoL）受到限制。我们报告了软骨发育不全症成年人现代队列的 QoL 和精神疾病诊断情况。将软骨发育不全症成年人的 SF-36 健康调查评分与普通人群的评分进行了比较。从病历中记录了人口统计学，身体测量和精神疾病诊断的信息。在所有类别中，软骨发育不全症患者的评分均低于普通人群。大多数患有软骨发育不全症的患者（56％）被诊断出患有精神疾病。患有精神疾病的患者在身体功能，因身体和情绪健康而导致的角色限制以及心理健康方面的得分较低。疼痛，精力/疲劳和一般健康量表的得分相差不到 2 分。患有精神疾病诊断的人的社会功能高了 15 分以上。患有软骨发育不全症的成年人报告说他们的身心健康水平明显较低，而且他们的精神疾病诊断率比普通人群高近 3 倍，这突出了为该人群提供全面护理的重要性。医疗保健提供者必须了解软骨发育不全症的身体和精神合并症，而不仅仅是身材矮小和骨科问题，以便他们可以主动改善患者及其家人的整个生命周期的 QoL。
