Abstract
Ornithine Trans-Carbamylase (OTC) deficiency is the most common disorder of the urea cycle. Cognitive impairments in skills such as attention and executive function have been reported in individuals with OTC deficiency who are managed with medication. In some cases, children undergo liver transplantation (LTx) to correct the metabolic defect. The metabolic and medical outcomes of LTx are generally good. However, little is known about the impacts on cognition. In this study, four children (three female) completed detailed neuropsychological batteries prior to (n = 6) and following LTx (n = 8 assessments). Children’s age at assessment ranged from 3 to 11 years. The battery included standardised, age-referenced measures of intellectual ability (IQ), attention, memory and educational ability. Additionally, parent measures of behaviour and executive function were administered. Generally, there was little change in overall IQ following LTx. Memory and academic skills were at expected levels for the three female patients and gains were made after LTx. Children showed ongoing impairments in attention and parent rated executive function. In conclusion, the immediate effect of LTx on cognition may not appear beneficial in the short-term and impairments in IQ, attention and behaviour persisted after the procedure. However, LTx seems to enable stabilisation to premorbid function in the longer term.
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Communicated by: Ertan Mayatepek, MD
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Take-Home Message
Liver transplantation for OTC deficiency may lead to improvement in memory and learning in some children, but the short-term effect of transplantation on cognition is limited.
Contributions of the Authors
Louise Crowe designed the study, conducted the assessments, carried out the analysis and wrote the paper. Vicki Anderson supervised assessments, provided neuropsychological input and assisted with writing and editing the paper. Winita Hardikar provided medical knowledge on the topic and assisted with writing and editing the paper. Avihu Boneh provided information on the disorder, clinical and medical information and wrote the paper with Louise Crowe.
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None declared.
Funding
Dr. Crowe is funded through the Australian National Health and Medical Research Council (NHMRC #1071544) Early Career Fellowship. This study was funded by Murdoch Children’s Research Institute and the Victorian Government Operational Infrastructure.
Ethics
This project was approved by the Royal Children’s Hospital Ethics Committee, #34140. As the patients are children, their parent (mother in all cases) gave consent for their child to participate in this study.
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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Crowe, L., Anderson, V., Hardikar, W., Boneh, A. (2018). Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 43. JIMD Reports, vol 43. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_97
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DOI: https://doi.org/10.1007/8904_2018_97
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