Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

Schäfer, Lisa; Roicke, Hannes; Bergner, Christa-Caroline; Köhler, Wolfgang

doi:10.1002/brb3.2878

Cited by 6 publications

(2 citation statements)

References 70 publications

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“…Female participants with ALD (specifically, AMN) communicated trouble getting around at a lower frequency than male participants. The fact that only up to 80% of females develop any kind of symptoms related to ALD during their lifetimes and most of those who do get symptoms experience them after the age of 40–60 years, with the clinical course being less severe, likely explains the lower prevalence of symptoms when compared to men [ 33 , 34 ]. Participants above the mean age of 51 years showed greater frequency in problems related to mobility and walking.…”

Section: Discussionmentioning

confidence: 99%

“…Study participants could have differed from the broader ALD patient population in that they represented those with moderate disease burden; asymptomatic individuals or those with very severe symptoms may not have had the willingness or capability to engage in this study. Relatedly, the inclusion of some asymptomatic women with ALD may have diluted the average symptomatic burden found in women overall [ 34 ], and the inclusion of younger individuals (more of whom would be asymptomatic or presymptomatic) may have lessened the overall disease burden reported for the entire sample [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

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Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

Varma,

Weinstein,

Seabury

et al. 2024

Orphanet J Rare Dis

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Background Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other disease-specific factors that collectively contribute to disease burden. To facilitate clinical care and research, it is important to identify which symptoms are most common and relevant to individuals with any subtype of ALD. Methods We conducted semi-structured qualitative interviews and an international cross-sectional study to determine the most prevalent and important symptoms of ALD. Our study included adult participants with a diagnosis of ALD who were recruited from national and international patient registries. Responses were categorized by age, sex, disease phenotype, functional status, and other demographic and clinical features. Results Seventeen individuals with ALD participated in qualitative interviews, providing 1709 direct quotes regarding their symptomatic burden. One hundred and nine individuals participated in the cross-sectional survey study, which inquired about 182 unique symptoms representing 24 distinct symptomatic themes. The symptomatic themes with the highest prevalence in the overall ALD sample cohort were problems with balance (90.9%), limitations with mobility or walking (87.3%), fatigue (86.4%), and leg weakness (86.4%). The symptomatic themes with the highest impact scores (on a 0–4 scale with 4 being the most severe) were trouble getting around (2.35), leg weakness (2.25), and problems with balance (2.21). A higher prevalence of symptomatic themes was associated with functional disability, employment disruption, and speech impairment. Conclusions There are many patient-relevant symptoms and themes that contribute to disease burden in individuals with ALD. These symptoms, identified by those having ALD, present key targets for further research and therapeutic development.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

Varma,

Weinstein,

Seabury

et al. 2024

Orphanet J Rare Dis

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Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

et al. 2023

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Background: 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.Methods: 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 2 tests for categorical and independent sample t tests or analysis of variance for continuous variables.Results: 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).Conclusions: 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.

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International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

Yska,

Turk,

Fatemi

et al. 2024

J of Inher Metab Disea

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BackgroundThe most common manifestation of X‐linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its progression rate. Wearable sensors allow for easy and frequent balance and gait collection. This study reports baseline data from a longitudinal study on the quantitative assessment of balance and gait with wearable sensors and their clinical relevance.MethodsData were collected from adult patients in two institutions. Postural body sway and gait parameters were measured using accelerometers. Disease severity was measured by the Expanded Disability Severity Scale (EDSS). Falling frequency and quality of life (QOL) were collected in men. The relationship between sway and gait variables and EDSS score, participants' use of a walking aid, and falling frequency was evaluated.ResultsOne hundred twenty individuals with ALD were included. Sway variables significantly differentiate participants' assistive device use. Sway and gait variables were correlated to the EDSS in both sexes. Both gait speed and sway were correlated with falling frequency in men from one institution. Select QOL subscores were correlated with the EDSS in males from one institution. Accelerometry generated comparable results across sites.DiscussionThis study confirms the clinical correlation between spinal cord disease and imbalance and gait in ALD. For the first time, this study shows clinically meaningful relationships for sway and gait with use of an assistive device, falling frequency and QOL. Wearable accelerometers are a valid means to measure sway and gait in ALD. These measures are promising outcomes for clinical trial designs to assess myeloneuropathy in ALD and to monitor disease progression in individuals.

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Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

Cited by 6 publications

References 70 publications

Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

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