{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T05:10:15Z","timestamp":1782450615930,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010090","name":"Women and Children's Health Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010090","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003053","name":"Alberta Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003053","name":"Alberta Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation improves the biochemical abnormality and patient survival is good. We report the neurocognitive and functional outcomes post\u2010transplant for nine UCD, three maple syrup urine disease, and one propionic acidemia patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirteen inborn errors of metabolism (IEM) patients were individually one\u2010to\u2010two matched to 26 non\u2010IEM patients. All patients received liver transplant. Wilcoxon rank sum test was used to compare full\u2010scale intelligence\u2010quotient (FSIQ) and Adaptive Behavior Assessment System\u2010II General Adaptive Composite (GAC) at age 4.5 years. Dichotomous outcomes were reported as percentages.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>FSIQ and GAC median [IQR] was 75 [54, 82.5] and 62.0 [47.5, 83] in IEM compared with 94.5 [79.8, 103.5] and 88.0 [74.3, 97.5] in matched patients (<jats:italic>P<\/jats:italic>\u2010value &lt;.001), respectively. Of IEM patients, 6 (46%) had intellectual disability (FSIQ and GAC &lt;70), 5 (39%) had autism spectrum disorder, and 1\/13 (8%) had cerebral palsy, compared to 1\/26 (4%), 0, 0, and 0% of matched patients, respectively. In the subgroup of nine with UCDs, FSIQ (64[54, 79]), and GAC (56[45, 75]) were lower than matched patients (100.5 [98.5, 101] and 95 [86.5, 99.5]), <jats:italic>P<\/jats:italic> = .005 and .003, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study evaluated FSIQ and GAC at age 4.5 years through a case\u2010comparison between IEM and matched non\u2010IEM patients post\u2010liver transplantation. The neurocognitive and functional outcomes remained poor in IEM patients, particularly in UCD. This information should be included when counselling parents regarding post\u2010transplant outcome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12095","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T09:31:35Z","timestamp":1580117495000},"page":"43-54","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Pre\u2010school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched\u2010comparison study"],"prefix":"10.1002","volume":"52","author":[{"given":"Shailly","family":"Jain\u2010Ghai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ari R.","family":"Joffe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwen Y.","family":"Bond","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Glenrose Rehabilitation Hospital  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Komudi","family":"Siriwardena","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason Y. 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