An audit of metabolic control during pregnancy and academic outcomes in children born to mothers with Phenylketonuria (PKU)
Year: 2025
Type: dissertation
Study design: Observational Study
Abstract: This thesis aimed to understand the psychological and educational profile of children born to mothers with Phenylketonuria (PKU). Part One is a systematic literature review compiling the psychological profile, specifically the cognitive, behavioural, and emotional functioning, of children born to mothers with PKU. Of the papers retrieved, the review synthesised the findings of twelve studies. Children born to mothers with PKU experienced language delays and difficulties with attention and memory. Some children displayed hyperactivity and impulsivity. A few studies mentioned children experiencing anxiety-related difficulties. Implications for further research on children’s psychological functioning are discussed. Part Two details a retrospective audit at a specialist metabolic unit in London. The audit examined how well mothers with PKU maintained pregnancy Phenylalanine (Phe) levels in line with the unit’s Phe level target range and the target range from the current European guidelines. It analysed children’s academic attainment against published normative data, and whether there was a relationship between maternal Phe levels and children’s academic attainment. By the third trimester (T3), over 80% of mothers with PKU maintained Phe levels within the unit’s and the European guidelines’ target ranges. Children significantly underperformed on measures of academic attainment, and high maternal Phe levels during T3 predicted lower Wechsler Individual Achievement Test (WIAT) scores. Implications for clinical practice and future research are discussed. Part Three is a critical appraisal that reflects on the process of completing this thesis. It discusses the reasons for choosing this research topic, audit methodology, navigating challenges, and considerations for future audits.
Author: Sohail, Rabeeah
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7128869037