Fagereng Elisabeth, Htwe Su, McDonald Sam, Derocher Chloe, Bertoli Marta, Carter Erin, Bredahl Anne-Mette, Blakstvedt Taran, Wright Micheal, Raggio Cathleen, Fredwall Svein
TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Norway.
Hospital for Special Surgery, New York, NY, USA.
Orphanet J Rare Dis. 2025 Mar 11;20(1):116. doi: 10.1186/s13023-025-03610-w.
This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon-Tyne and Norway.
Questionnaires were sent to patients registered at the centres or distributed to adults attending clinics. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (SF 36/RAND-36 and PROMIS-29).
Of the 142 participants, 62 (44%) had achondroplasia (n = 59) or hypochondroplasia (n = 3), and 80 (56%) had other skeletal dysplasia conditions (OSD), the largest groups being multiple epiphyseal dysplasia (n = 14), diastrophic dysplasia (n = 9), spondyloepiphyseal dysplasia congenita (n = 9) and pseudoachondroplasia (n = 8). Mean age was 41 (range 18-80) years. A prior psychiatric diagnosis was reported by 36%. Clinically significant symptoms of depression (PHQ-8 score ≥ 10) and anxiety (GAD-7 score ≥ 10) were reported by 23% and 13%. Almost all (99%) reported pain, while 9% had clinically significant levels of pain catastrophizing. For daily activities, the most affected domains were activities, reach and walking. The prevalence of current depression and anxiety symptoms was considerably higher in the study population than in the general US population. Participants with OSD reported more psychiatric diagnoses, depression and anxiety symptoms, more pain and challenges in performing daily activities, and lower HRQOL compared to participants with achondroplasia/hypochondroplasia.
Adults with skeletal dysplasia appear to have an increased risk for mental health issues and reduced physical functioning, which may impact HRQOL. These findings underscore the importance of including a formal assessment of mental health, pain and daily activities as part of regular medical follow-up across the lifespan in these patients.
这项横断面研究在纽约、泰恩河畔纽卡斯尔和挪威的三个中心，对患有身材矮小骨骼发育不良疾病的成年人的心理健康状况、身体功能及健康相关生活质量（HRQOL）进行了调查。
向各中心登记的患者发放问卷，或分发给到诊所就诊的成年人。问卷内容包括人口统计学信息、病史、抑郁（PHQ - 8）、焦虑（GAD - 7）、疼痛灾难化、日常生活活动能力（HAQ）以及健康相关生活质量（SF 36/RAND - 36和PROMIS - 29）。
在142名参与者中，62名（44%）患有软骨发育不全（n = 59）或低软骨发育不全（n = 3），80名（56%）患有其他骨骼发育不良疾病（OSD），其中人数最多的组为多发性骨骺发育不良（n = 14）、畸形性发育不良（n = 9）、先天性脊柱骨骺发育不良（n = 9）和假性软骨发育不全（n = 8）。平均年龄为41岁（范围18 - 80岁）。36%的参与者报告有先前的精神疾病诊断。23%和13%的参与者分别报告有临床显著的抑郁症状（PHQ - 8评分≥10）和焦虑症状（GAD - 7评分≥10）。几乎所有（99%）参与者报告有疼痛，而9%的参与者有临床显著水平的疼痛灾难化。对于日常活动，受影响最大的领域是活动、够物和行走。该研究人群中当前抑郁和焦虑症状的患病率显著高于美国普通人群。与软骨发育不全/低软骨发育不全的参与者相比，患有OSD的参与者报告有更多的精神疾病诊断、抑郁和焦虑症状、更多疼痛以及日常活动方面的挑战，且健康相关生活质量较低。
患有骨骼发育不良的成年人似乎心理健康问题风险增加，身体功能下降，这可能会影响健康相关生活质量。这些发现强调了在这些患者的整个生命周期的定期医学随访中，纳入心理健康、疼痛和日常活动的正式评估的重要性。
