{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:45:14Z","timestamp":1790610314196,"version":"4.1.0"},"reference-count":65,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Research Intellect Disabil"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human\u2010based research that reported methods to diagnose and monitor MPS III, including experimental, quasi\u2010experimental, observational studies, reviews, and guidelines. We followed PRISMA\u2010ScR guidelines for screening and data extraction. Descriptive statistics and qualitative synthesis were used for analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study comprehensively overviews the contributions of diagnostic and monitoring methods for MPS III. Our findings can guide clinicians in providing evidence\u2010based care for this rare disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jar.70024","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T01:09:58Z","timestamp":1741741798000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Evaluating Patients With Mucopolysaccharidosis Type\n                    <scp>III<\/scp>\n                    : A Scoping Review on Diagnostic and Follow\u2010Up Approaches"],"prefix":"10.1111","volume":"38","author":[{"given":"Agustina Sabino","family":"Romagnoli","sequence":"first","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8064-5698","authenticated-orcid":false,"given":"Let\u00edcia Nunes","family":"Campos","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Fernandez\u2010Guzman","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Wagemaker","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico Fernandez","family":"Zelcer","sequence":"additional","affiliation":[{"name":"Facultad de Filosof\u00eda y Letras Universidad de Buenos Aires  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina F.","family":"Arg\u00fcelles","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"},{"name":"Instituto de Biolog\u00eda Subtropical, Nodo Posadas, Universidad Nacional de Misiones (UNaM) \u2013 Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET)  Misiones Argentina"},{"name":"Facultad de Ciencias de la Salud Universidad Cat\u00f3lica de Las Misiones  Misiones Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura F.","family":"Sosa","sequence":"additional","affiliation":[{"name":"Medical Science Liaison Innovative Medicines Groups  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayla","family":"Gerk","sequence":"additional","affiliation":[{"name":"Rare Diseases Community  Buenos Aires Argentina"},{"name":"McGill University  Montreal Quebec Canada"},{"name":"Harvey E. 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