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Pre‐school 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‐comparison study
BACKGROUND: 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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052695/ https://www.ncbi.nlm.nih.gov/pubmed/32154059 http://dx.doi.org/10.1002/jmd2.12095 |
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author | Jain‐Ghai, Shailly Joffe, Ari R. Bond, Gwen Y. Siriwardena, Komudi Chan, Alicia Yap, Jason Y. K. Hajihosseini, Morteza Dinu, Irina A. Acton, Bryan V. Robertson, Charlene M. T. |
author_facet | Jain‐Ghai, Shailly Joffe, Ari R. Bond, Gwen Y. Siriwardena, Komudi Chan, Alicia Yap, Jason Y. K. Hajihosseini, Morteza Dinu, Irina A. Acton, Bryan V. Robertson, Charlene M. T. |
author_sort | Jain‐Ghai, Shailly |
collection | PubMed |
description | BACKGROUND: 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‐transplant for nine UCD, three maple syrup urine disease, and one propionic acidemia patient. METHODS: Thirteen inborn errors of metabolism (IEM) patients were individually one‐to‐two matched to 26 non‐IEM patients. All patients received liver transplant. Wilcoxon rank sum test was used to compare full‐scale intelligence‐quotient (FSIQ) and Adaptive Behavior Assessment System‐II General Adaptive Composite (GAC) at age 4.5 years. Dichotomous outcomes were reported as percentages. RESULTS: 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 (P‐value <.001), respectively. Of IEM patients, 6 (46%) had intellectual disability (FSIQ and GAC <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]), P = .005 and .003, respectively. CONCLUSION: This study evaluated FSIQ and GAC at age 4.5 years through a case‐comparison between IEM and matched non‐IEM patients post‐liver transplantation. The neurocognitive and functional outcomes remained poor in IEM patients, particularly in UCD. This information should be included when counselling parents regarding post‐transplant outcome. |
format | Online Article Text |
id | pubmed-7052695 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70526952020-03-09 Pre‐school 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‐comparison study Jain‐Ghai, Shailly Joffe, Ari R. Bond, Gwen Y. Siriwardena, Komudi Chan, Alicia Yap, Jason Y. K. Hajihosseini, Morteza Dinu, Irina A. Acton, Bryan V. Robertson, Charlene M. T. JIMD Rep Research Reports BACKGROUND: 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‐transplant for nine UCD, three maple syrup urine disease, and one propionic acidemia patient. METHODS: Thirteen inborn errors of metabolism (IEM) patients were individually one‐to‐two matched to 26 non‐IEM patients. All patients received liver transplant. Wilcoxon rank sum test was used to compare full‐scale intelligence‐quotient (FSIQ) and Adaptive Behavior Assessment System‐II General Adaptive Composite (GAC) at age 4.5 years. Dichotomous outcomes were reported as percentages. RESULTS: 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 (P‐value <.001), respectively. Of IEM patients, 6 (46%) had intellectual disability (FSIQ and GAC <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]), P = .005 and .003, respectively. CONCLUSION: This study evaluated FSIQ and GAC at age 4.5 years through a case‐comparison between IEM and matched non‐IEM patients post‐liver transplantation. The neurocognitive and functional outcomes remained poor in IEM patients, particularly in UCD. This information should be included when counselling parents regarding post‐transplant outcome. John Wiley & Sons, Inc. 2020-01-27 /pmc/articles/PMC7052695/ /pubmed/32154059 http://dx.doi.org/10.1002/jmd2.12095 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Reports Jain‐Ghai, Shailly Joffe, Ari R. Bond, Gwen Y. Siriwardena, Komudi Chan, Alicia Yap, Jason Y. K. Hajihosseini, Morteza Dinu, Irina A. Acton, Bryan V. Robertson, Charlene M. T. Pre‐school 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‐comparison study |
title | Pre‐school 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‐comparison study |
title_full | Pre‐school 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‐comparison study |
title_fullStr | Pre‐school 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‐comparison study |
title_full_unstemmed | Pre‐school 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‐comparison study |
title_short | Pre‐school 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‐comparison study |
title_sort | pre‐school 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‐comparison study |
topic | Research Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052695/ https://www.ncbi.nlm.nih.gov/pubmed/32154059 http://dx.doi.org/10.1002/jmd2.12095 |
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