Long-term cognitive and psychosocial outcomes in adults with phenylketonuria

Lynne Aitkenhead*, Gauri Krishna, Charlotte Ellerton, Md Moinuddin, Jessica Matcham, Lisha Shiel, Shasoty Hossain, Marianne Kiffin, Jennifer Foley, Rachel Skeath, Maureen Cleary, Robin Lachmann, Elaine Murphy

*Corresponding author for this work

Research output: Contribution to journalArticle (journal)peer-review

24 Citations (Scopus)
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Previous studies have suggested that cognitive and psychosocial underfunctioning in early-treated adults with PKU may be explained by suboptimal adherence to dietary treatments, however these studies often employ small samples, with different outcome measures, definitions and cut-offs. Samples have also tended to comprise participants with a limited range of blood phenylalanine concentrations, and often individuals who may not have been treated early enough to avoid neurological damage. In this study, we explore the impact of lifetime dietary control, as indicated by blood phenylalanine concentrations in childhood, adolescence and adulthood, on long-term cognitive and psychosocial outcomes in a large sample of adults with PKU who were diagnosed by neonatal screening and commenced on dietary treatment within the first month of life. 154 participants underwent cognitive testing, assessing attention, learning, working memory, language, executive functioning and processing speed. 149 completed measures of psychosocial functioning, documenting educational, occupational, quality of life, emotional and social outcomes which were compared with a group of healthy controls. Many adults with PKU demonstrated cognitive impairments, most frequently affecting processing speed (23%), executive function (20%) and learning (12%). Cognitive outcomes were related to measures of historic metabolic control, but only processing speed was significantly related to phenylalanine concentration at the time of testing after controlling for historic levels. Adults with PKU did not, however, differ from controls in educational, occupational, quality of life or emotional outcomes, or on a measure of family functioning, and showed only minor differences in relationship style. These findings have implications for patient counselling and decisions regarding the management of PKU in adulthood. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Early online date18 Jun 2021
Publication statusPublished - 18 Aug 2021


  • cognition
  • metabolic
  • neuropsychology
  • outcomes
  • Phenylketonuria
  • PKU


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