{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:59:58Z","timestamp":1790171998980,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:00:00Z","timestamp":1787788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:00:00Z","timestamp":1787788800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["1RC2DK122533"],"award-info":[{"award-number":["1RC2DK122533"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["1R24AI162637"],"award-info":[{"award-number":["1R24AI162637"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp;amp; Cancer"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Shwachman\u2013Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted a retrospective study of 240 individuals with biallelic Shwachman\u2013Bodian\u2013Diamond syndrome (SBDS) mutations enrolled in the North American SDS Registry to characterize neuropsychological, psychiatric, educational, functional, and neuroimaging outcomes. Medical records were reviewed, and neuropsychological scores were converted to\n                      <jats:italic>z<\/jats:italic>\n                      \u2010scores and categorized as weakness (1.0\u20131.4 SD below the mean) or impairment (\u22651.5 SD below the mean).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Fourteen individuals completed formal neuropsychological evaluations (mean age 10.66 years). Median full\u2010scale IQ\n                      <jats:italic>z<\/jats:italic>\n                      \u2010score was \u22120.47 (SD 1.28), with 41.7% demonstrating intellectual weakness or impairment. Adaptive functioning showed the highest rate of impairment (100%). Executive functioning, visual\u2010motor integration, spelling, and mathematics were commonly affected, whereas immediate verbal learning was preserved. Longitudinal data from five patients demonstrated stable overall intellectual and generally stable adaptive functioning over time, with variability in higher order cognitive and psychosocial domains. Educational support needs were substantial: 73.9% required specialized educational programs and 51.9% had an individualized education program. Neurodevelopmental disorders were reported in 49% of those with available data, most commonly attention\u2010deficit\/hyperactivity disorder, and 23.5% had mental health diagnoses, most frequently anxiety. Neuroimaging was abnormal in a subset, most often reflecting structural brain differences.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These findings indicate that individuals with SDS are at elevated risk for neurocognitive weaknesses and significant educational needs. Although global intellectual functioning appears relatively stable over time, domain\u2010specific vulnerabilities and adaptive impairment warrant routine neuropsychological monitoring and early intervention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/1545-5017.70650","type":"journal-article","created":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:53:56Z","timestamp":1787828036000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuropsychological and Educational Outcomes in Shwachman\u2013Diamond Syndrome\u2014A Report From the North American Shwachman\u2013Diamond Syndrome Registry"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1858-2881","authenticated-orcid":false,"given":"Jane","family":"Koo","sequence":"first","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5534-245X","authenticated-orcid":false,"given":"Melissa","family":"Gerstle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Behavioral Medicine and Clinical Psychology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Cheng","sequence":"additional","affiliation":[{"name":"Clinical Research Center Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Cooper","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Coyne","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hematology\/Oncology Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Dusa","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3785-9068","authenticated-orcid":false,"given":"Naomi E.","family":"Joffe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Behavioral Medicine and Clinical Psychology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4683-9958","authenticated-orcid":false,"given":"Diana","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hematology\/Oncology Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Steltz","sequence":"additional","affiliation":[{"name":"Clinical Research Center Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Shimamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hematology\/Oncology Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts 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