Department of Neurology, Leukodystrophy Outpatient Clinic, Leipzig University Medical Center, Leipzig, Germany.
Brain Behav. 2023 Mar;13(3):e2878. doi: 10.1002/brb3.2878. Epub 2023 Feb 7.
Up to 80% of women with X-linked adrenoleukodystrophy (X-ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X-ALD regarding their physical and mental well-being and quality of life.
Data were obtained from a prospective, international, cross-sectional cohort study of women with X-ALD recruited both clinically and population based. Symptoms, quality of life, and physical and mental co-morbidities were assessed by questionnaires. Women were considered symptomatic if they reported any sign of myelopathy or peripheral neuropathy. Group differences between symptomatic versus asymptomatic women and between age groups were examined using χ tests for categorical and independent sample t tests or analysis of variance for continuous variables.
Complete data were available from N = 180 women (mean age: 51.2 ± 13.6 years, range: 18-85), of whom 71.7% were classified as symptomatic, with prevalence increasing with age. Symptomatic versus asymptomatic women reported poorer physical and mental health, with 26.4% meeting the criteria for a clinical depression, 73.6% reporting chronic pain, 80.6% sleeping disturbances, 38.2% sexual dysfunction, and 47.3% restless legs syndrome. Large group differences were found on the physical health, but not on the mental health component of quality of life, where symptomatic women only differed when controlling for having a boy affected by X-ALD (small effect) and treatment frequency (medium effect).
Symptomatic women with X-ALD present with physical and psychological co-morbidities significantly reducing individuals' quality of life. The findings emphasize the need to develop new multi-disciplinary treatment options tailored to women's specific needs.
多达 80%的 X 连锁肾上腺脑白质营养不良（X-ALD）女性在其一生中会出现脊髓病和周围神经病的症状。本研究旨在比较 X-ALD 有症状和无症状女性的身心健康和生活质量。
数据来自一项前瞻性、国际性、横断面队列研究，招募了临床和基于人群的 X-ALD 女性。通过问卷评估症状、生活质量以及身体和精神合并症。如果女性报告有任何脊髓病或周围神经病的迹象，则认为其有症状。使用 χ 检验对分类变量和独立样本 t 检验或方差分析对连续变量进行组间比较，以评估有症状与无症状女性以及年龄组之间的差异。
共有 180 名女性（平均年龄：51.2 ± 13.6 岁，范围：18-85）提供了完整的数据，其中 71.7%被归类为有症状，患病率随年龄增长而增加。有症状与无症状女性报告的身心健康状况较差，26.4%符合临床抑郁标准，73.6%报告慢性疼痛，80.6%睡眠障碍，38.2%性功能障碍，47.3%不宁腿综合征。在身体健康方面存在较大的组间差异，但在生活质量的心理健康方面则没有差异，仅在控制了有一个受 X-ALD 影响的男孩（小效应）和治疗频率（中效应）时，有症状的女性才存在差异。
X-ALD 有症状女性存在身体和心理合并症，显著降低了个体的生活质量。研究结果强调需要制定新的多学科治疗方案，以满足女性的特定需求。
