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Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency

  • Louise CroweEmail author
  • Vicki Anderson
  • Winita Hardikar
  • Avihu Boneh
Research Report
Part of the JIMD Reports book series (JIMD, volume 43)

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.

Keywords

Children Cognition Liver transplantation Ornithine Trans-Carbamylase (OTC) deficiency 

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Louise Crowe
    • 1
    • 2
    • 3
    Email author
  • Vicki Anderson
    • 1
    • 2
    • 3
    • 4
  • Winita Hardikar
    • 4
    • 5
  • Avihu Boneh
    • 4
    • 6
    • 7
  1. 1.School of Psychological SciencesUniversity of MelbourneParkvilleAustralia
  2. 2.Child NeuropsychologyMurdoch Children’s Research InstituteMelbourneAustralia
  3. 3.Department of PsychologyRoyal Children’s HospitalMelbourneAustralia
  4. 4.Department of PaediatricsUniversity of MelbourneParkvilleAustralia
  5. 5.Department of Gastroenterology and NutritionRoyal Children’s HospitalMelbourneAustralia
  6. 6.Metabolic ResearchMurdoch Children’s Research Institute, Royal Children’s HospitalMelbourneAustralia
  7. 7.Department of Metabolic MedicineRoyal Children’s HospitalMelbourneAustralia

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