Evaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow‐Up Approaches.
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| Title: | Evaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow‐Up Approaches. |
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| Authors: | Romagnoli, Agustina Sabino (AUTHOR), Campos, Letícia Nunes (AUTHOR), Fernandez‐Guzman, Daniel (AUTHOR), Wagemaker, Sofia (AUTHOR), Zelcer, Federico Fernandez (AUTHOR), Stegmann, Carlos (AUTHOR), Argüelles, Carina F. (AUTHOR), Sosa, Laura F. (AUTHOR), Gerk, Ayla (AUTHOR), Stegmann, Jorgelina (AUTHOR) |
| Source: | Journal of Applied Research in Intellectual Disabilities. Mar2025, Vol. 38 Issue 2, p1-16. 16p. |
| Subjects: | Physical therapy, Diagnostic imaging, Research funding, Brain, Mucopolysaccharidosis, Descriptive statistics, Magnetic resonance imaging, Electrodiagnosis, Audiometry, Clinical pathology, Systematic reviews, MEDLINE, Medical databases, Online information services, Genetic testing, Glycosaminoglycans, Symptoms |
| Abstract: | Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human‐based research that reported methods to diagnose and monitor MPS III, including experimental, quasi‐experimental, observational studies, reviews, and guidelines. We followed PRISMA‐ScR guidelines for screening and data extraction. Descriptive statistics and qualitative synthesis were used for analysis. Results: We included 35 eligible articles. Most studies were conducted in Europe and Central Asia (17/35, 48.6%) and constituted case reports (19/37, 51.4%). Clinical symptoms were reported in 30 articles and predominantly pertained to the nervous system (25/30, 83.3%), including intellectual disability (19/30, 63.3%), movement incoordination (17/30, 56.6%), and behavioural issues (16/30, 53.3%). Diagnostic methods (23/35, 65.7%) featured genetic testing and biochemical assays, including GAG measurement in urine. Brain MRI was the most recorded imaging study (11/20, 55.0%), while electrographic studies (10/35, 28.5%) encompassed electrocardiogram (5/10, 50%), electroencephalogram, and audiometry (3/10, 30% each). Scales and questionnaires (8/35, 22.8%) were reported, with the Bayley Scales of Infant Development being the most described (4/8, 50%). Conclusion: Our study comprehensively overviews the contributions of diagnostic and monitoring methods for MPS III. Our findings can guide clinicians in providing evidence‐based care for this rare disease. [ABSTRACT FROM AUTHOR] |
| Copyright of Journal of Applied Research in Intellectual Disabilities is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human‐based research that reported methods to diagnose and monitor MPS III, including experimental, quasi‐experimental, observational studies, reviews, and guidelines. We followed PRISMA‐ScR guidelines for screening and data extraction. Descriptive statistics and qualitative synthesis were used for analysis. Results: We included 35 eligible articles. Most studies were conducted in Europe and Central Asia (17/35, 48.6%) and constituted case reports (19/37, 51.4%). Clinical symptoms were reported in 30 articles and predominantly pertained to the nervous system (25/30, 83.3%), including intellectual disability (19/30, 63.3%), movement incoordination (17/30, 56.6%), and behavioural issues (16/30, 53.3%). Diagnostic methods (23/35, 65.7%) featured genetic testing and biochemical assays, including GAG measurement in urine. Brain MRI was the most recorded imaging study (11/20, 55.0%), while electrographic studies (10/35, 28.5%) encompassed electrocardiogram (5/10, 50%), electroencephalogram, and audiometry (3/10, 30% each). Scales and questionnaires (8/35, 22.8%) were reported, with the Bayley Scales of Infant Development being the most described (4/8, 50%). Conclusion: Our study comprehensively overviews the contributions of diagnostic and monitoring methods for MPS III. Our findings can guide clinicians in providing evidence‐based care for this rare disease. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 13602322 |
| DOI: | 10.1111/jar.70024 |
