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

Louise Crowe1,2,3, Vicki Anderson4,5,6,7, Winita Hardikar7,8

  • 1School of Psychological Sciences, University of Melbourne, Parkville, VIC, Australia. louise.crowe@mcri.edu.au.

JIMD Reports
|March 11, 2018
PubMed

Insights

Liver transplantation (LTx) for Ornithine Trans-Carbamylase (OTC) deficiency did not immediately improve cognition in children. While some skills stabilized, attention and executive function impairments persisted post-transplant.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Neuropsychology

Background:

  • Ornithine Trans-Carbamylase (OTC) deficiency is a common urea cycle disorder.
  • Cognitive deficits, including attention and executive function issues, are known in OTC deficiency.
  • Liver transplantation (LTx) is used to treat OTC deficiency, but its cognitive impact is unclear.

Purpose of the Study:

  • To evaluate the cognitive outcomes in children with OTC deficiency following liver transplantation (LTx).
  • To assess changes in intellectual ability, attention, memory, and academic skills post-LTx.

Main Methods:

  • Neuropsychological testing in four children (three female) aged 3-11 years.
  • Assessments included measures of IQ, attention, memory, and academic abilities before and after LTx.
  • Parent-reported behavioral and executive function measures were also utilized.

Main Results:

  • Overall intellectual quotient (IQ) showed minimal change after LTx.
  • Memory and academic skills were age-appropriate and improved in female patients post-LTx.
  • Persistent impairments in attention and parent-rated executive functions were observed.

Conclusions:

  • Immediate cognitive benefits of LTx for OTC deficiency are not evident in the short term.
  • Intellectual ability, attention, and behavioral impairments may persist after the procedure.
  • LTx may support stabilization of cognitive function to premorbid levels in the long term.

Keywords:
ChildrenCognitionLiver transplantationOrnithine Trans-Carbamylase (OTC) deficiency

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