{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:11:41Z","timestamp":1790820701947,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mucopolysaccharidosis (MPS) involves neurodevelopmental decline due to lysosomal dysfunction. Hematopoietic stem cell transplantation (HSCT) may modify disease progression, but subtype-specific outcomes remain unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Fifty-seven MPS patients (aged 1\u20138\u00a0years) undergoing HSCT in Shanghai (2019\u20132024) were assessed longitudinally using Griffiths Mental Development Scales-Chinese (GDS-C) pre-HSCT and at 3, 12, and 24 months post-HSCT. Linear mixed models evaluated timepoint, age, and subtype effects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      HSCT significantly improved locomotor function (\n                      <jats:italic>F<\/jats:italic>\n                      \u2009=\u2009111.57,\u00a0\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), with greatest gains in MPS III (\u03b2\u2009=\u200959.57) and age-dependent decline (\u03b2\u2009=\u2009\u2009\u2212\u20092.46\/year). Personal-social function improved modestly (\n                      <jats:italic>F<\/jats:italic>\n                      \u2009=\u20094.44,\u00a0\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.039), while language\/eye-hand coordination showed progressive gains (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009\u2264\u20090.001). Subtype influenced language (\n                      <jats:italic>F<\/jats:italic>\n                      \u2009=\u20093.75) and coordination (\n                      <jats:italic>F<\/jats:italic>\n                      \u2009=\u20092.89), with attenuated responses in MPS II. No Timepoint\u2009\u00d7\u2009Subtype interactions suggested uniform temporal effects.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>HSCT stabilizes\/improves neurodevelopment in MPS, modulated by subtype and transplant age. Early intervention optimizes outcomes, particularly for MPS III. Culturally adapted GDS-C enables precise monitoring, guiding HSCT timing and rehabilitation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04025-3","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T09:38:42Z","timestamp":1763545122000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy"],"prefix":"10.1186","volume":"20","author":[{"given":"Yichao","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengjuan","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianmin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunhui","family":"Mi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2142-4531","authenticated-orcid":false,"given":"Jing","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"4025_CR1","doi-asserted-by":"publisher","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","volume":"50","author":"J Muenzer","year":"2011","unstructured":"Muenzer J. 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