ArticleMolecular genetics and metabolism reports2024
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 3 citations in OpenAlex.
- Experiences of children and adults having a sibling with profound intellectual and multiple disabilities: a qualitative systematic review.International journal of nursing studies advances · 2026Review
- Primary care services role in supporting families of children or adolescents with disabilities or neurodevelopmental disorders.Revista da Escola de Enfermagem da U S P · 2026Review
- Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.Orphanet journal of rare diseases · 2025Article
- Experiences of Patients and Families Living with Krabbe Disease.Journal of patient experience · 2025Article
- Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions. Although enzyme replacement and gene therapies have been developed, they are not expected to be effective in patients with advanced diseases. Therefore, it is important to focus on treatment effects and patients' quality of life; however, qualitative findings on the experiences of patients and their families have not been adequately reported. Interviews were conducted with the family members of patients with metachromatic leukodystrophy in Japan. Verbatim transcripts were analyzed using a qualitative content analysis approach. We interviewed the mothers of five patients. Verbatim interview transcripts were classified into 81 codes. The codes were then aggregated into 15 categories and 3 themes: challenges of life for the patients, challenges in the healthcare system, and challenges of family function. Disease progression greatly affects patients' lives. Moreover, social systems supporting patients and their families are inadequate, especially as the disease progresses. Family members face life restrictions and role changes because of the patient's diagnosis. Patients with metachromatic leukodystrophy and their families require comprehensive support.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.