{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T06:44:21Z","timestamp":1793256261243,"version":"4.5.0"},"reference-count":55,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T00:00:00Z","timestamp":1723420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1\u2010year, and 3\u2010years post\u2010LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021. Standardized motor and cognitive assessment scores were collected from children who had \u22651 motor\/cognitive assessment at any timepoint. Pre\u2010LT brain magnetic resonance imaging (MRI) was graded. Associations between demographic\/medical variables and neurodevelopmental outcomes were explored. Twenty\u2010six children (64% male) underwent LT at a median age of 1.4 (interquartile range 0.71, 3.84) years. Fifteen (58%) had a UCD diagnosis, 14 (54%) required dialysis for hyperammonemia, and 10 (42%) had seizures typically around diagnosis. The proportion of children with gross motor scores &gt;1 standard deviation (SD) below the mean increased across timepoints, and \u226550% demonstrated general intellect scores &gt;2 SD below the mean at each timepoint. The following significant associations were noted: UCD diagnoses with lower general intellect scores (<jats:italic>p<\/jats:italic>\u2009=\u20090.019); arginosuccinate lyase deficiency diagnosis with lower visual motor scores at 3\u2010years post\u2010LT (<jats:italic>p<\/jats:italic>\u2009=\u20090.035); a history of seizures pre\u2010LT with lower general intellect (&gt;2SD below the mean) at 3\u2010years post\u2010LT (<jats:italic>p<\/jats:italic>\u2009=\u20090.020); dialysis pre\u2010LT with lower motor scores (&gt;1 SD below the mean) at 1\u2010year post\u2010LT (<jats:italic>p<\/jats:italic>\u2009=\u20090.039); pre\u2010emptive LT with higher general intellect scores at 3\u2010years post\u2010LT (<jats:italic>p<\/jats:italic>\u2009=\u20090.001). MRI gradings were not associated with developmental scores. In our single centre study, children with UCD or OA had a higher prevalence of developmental impairment post\u2010LT compared to population norms. Earlier screening, pre\u2010emptive transplant, and rehabilitation may optimize long\u2010term outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12785","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T01:38:21Z","timestamp":1723513101000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Long\u2010term neurodevelopmental outcomes following liver transplantation for metabolic disease\u2010a single centre experience"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0765-5144","authenticated-orcid":false,"given":"Catherine","family":"Patterson","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Services The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Physical Therapy University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7719-5673","authenticated-orcid":false,"given":"Anna","family":"Gold","sequence":"additional","affiliation":[{"name":"Department of Psychology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1548-4105","authenticated-orcid":false,"given":"Stephanie","family":"So","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Services The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Physical Therapy University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Kahnami","sequence":"additional","affiliation":[{"name":"Department of Psychology The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Psychology York University  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Dworsky\u2010Fried","sequence":"additional","affiliation":[{"name":"Department of Psychology The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Psychology University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Mamak","sequence":"additional","affiliation":[{"name":"Department of Psychology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaine","family":"Rogers","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Services The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Physical Therapy University of Toronto  Toronto Ontario Canada"},{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Schulze","sequence":"additional","affiliation":[{"name":"Department of Occupational Therapy University of Toronto  Toronto Ontario Canada"},{"name":"Department of Pediatrics and Biochemistry University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7896-7049","authenticated-orcid":false,"given":"Birgit","family":"Ertl\u2010Wagner","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Medical Imaging University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9998-5692","authenticated-orcid":false,"given":"Vicky","family":"Ng","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics, University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-5727","authenticated-orcid":false,"given":"Yaron","family":"Avitzur","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics, University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100132\u20105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-022-00954-1"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.23765"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12095"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.02.012"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12987"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12088"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.06.033"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.25679"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.25302\/12.20.CER.150227816"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.101039"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2009.01228.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12041"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0000000000003501"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000469"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.25304"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010013\u20109624\u20100"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12520"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S43513"},{"key":"e_1_2_9_21_1","volume-title":"Wechsler Preschool and Primary Scale of Intelligence","author":"Wechsler D","year":"2012"},{"key":"e_1_2_9_22_1","volume-title":"WISC\u2010V: Weschler Intelligence Scale for Children","author":"Wechsler D","year":"2014"},{"key":"e_1_2_9_23_1","first-page":"1","volume-title":"Wechsler Adult Intelligence Scale Fourth Edition (WAIS\u2013IV)","author":"Wechsler D","year":"2008"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/073428290001800409"},{"key":"e_1_2_9_25_1","first-page":"2010","volume-title":"Beery VMI Administration, Scoring, and Teaching Manual","author":"Beery KE","year":"2010"},{"key":"e_1_2_9_26_1","first-page":"73","volume-title":"The Elements of Applied Psychological Practice in Australia: Preparing for the National Psychology Examination","author":"Preez J","year":"2017"},{"key":"e_1_2_9_27_1","volume-title":"Sparrow2005vineland","author":"Sparrow SS","year":"2005"},{"key":"e_1_2_9_28_1","volume-title":"Vineland Adaptive Behavior Scales","author":"Sparrow SS","year":"2016"},{"key":"e_1_2_9_29_1","unstructured":"BruininksRH BradleyHK WeathermanRF WoodcockRW.SIB\u2010R. Rolling Meadows.1996."},{"key":"e_1_2_9_30_1","first-page":"S46","article-title":"Construction and validation of the Alberta Infant Motor Scale (AIMS)","volume":"83","author":"Piper MC","year":"1992","journal-title":"Can J Public Health"},{"key":"e_1_2_9_31_1","unstructured":"FolioRM FewellRR.Peabody developmental motor scales (Examiner's manual).2000."},{"key":"e_1_2_9_32_1","volume-title":"BOT2: Bruininks\u2010Oseretsky Test of Motor Proficiency","author":"Bruininks RH","year":"2005"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1998.tb15399.x"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/pch\/pxy093"},{"key":"e_1_2_9_35_1","unstructured":"Centre for ADHD Awareness Canada. About ADHD.2023."},{"key":"e_1_2_9_36_1","unstructured":"Learning Disability Association of Ontario.Learning Disabilities Statistics.2015."},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1080\/15398285.2023.2204717"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12100"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015\u20100175"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.11.001"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2023.101020"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12415"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1103757"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9938-9"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.14200"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12318"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20106143.2008.02480.x"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.03.032"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25492"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010015\u20109839\u20103"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181a27a16"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-6"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20103046.2010.01411.x"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12047"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.1"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51668"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12785","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T10:08:59Z","timestamp":1754906939000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12785"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,12]]},"references-count":55,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/jimd.12785"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12785","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,12]]},"assertion":[{"value":"2024-02-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e12785"}}