ArticleMolecular genetics and metabolism2016
Activity of daily living for Morquio A syndrome.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.Molecular genetics and metabolism · 2026Article
- Natural History of Morquio A Syndrome.Journal of inherited metabolic disease · 2026Review
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.International journal of molecular sciences · 2026Article
- Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.Journal of human genetics · 2025Article
- Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.Italian journal of pediatrics · 2025Article
- Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy.International journal of molecular sciences · 2022Article
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.Molecular genetics & genomic medicine · 2021Article
- Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV).Diagnostics (Basel, Switzerland) · 2021Article
- Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.Case reports in orthopedics · 2021Article
- Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders.Current osteoporosis reports · 2020Review
- Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.Molecular therapy. Methods & clinical development · 2020Article
- Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.International journal of molecular sciences · 2020Review
- Effect of enzyme replacement therapy on the growth of patients with Morquio A.Journal of human genetics · 2019Article
- Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.Orphanet journal of rare diseases · 2019Article
- Biomarkers in patients with mucopolysaccharidosis type II and IV.Molecular genetics and metabolism reports · 2019Article
- Anesthesiological risks in mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Molecular genetics and metabolism · 2018Review
- Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.Molecular genetics and metabolism reports · 2018Article
- Neurophysiology of hearing in patients with mucopolysaccharidosis type IV.Molecular genetics and metabolism · 2018Article
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of "Movement" and "Movement with cognition." Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls.
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