Cognitive outcomes in phenylketonuria across ages
Research type
Research Study
Full title
Cognitive assessment of phenylketonuria: Comparing outcomes across developmental ages
IRAS ID
255157
Contact name
Cristina Romani
Contact email
Sponsor organisation
Aston University
Duration of Study in the UK
15 years, 0 months, 1 days
Research summary
People with Phenylketonuria (PKU), develop cognitive problems and poor mental health unless the food they eat is strictly controlled. This is because PKU leads to dangerous increases in levels of the amino acid Phenylalanine (Phe) in the blood causing irreparable damage to certain brain structures. This project aims to compare cognitive outcomes and psychological well-being in people with PKU across different ages. We want to see whether outcomes improve, remain stable, or deteriorate with age, as well as how they are affected by current and historical levels of Phe. This is particularly important in PKU as many patients abandon their treatment diet after adolescence, and we do not yet know what the long-term effects of this will be.
We have already collected an extensive dataset of outcomes for young adults with PKU, and we now wish to extend this to include older adults, children, and adolescents. We will test adults who are aged 40+, as well as children aged 8+ (starting from school year 4). These cognitive tests have been previously tried out on healthy children in the same age range. A short screening and standardised questionnaires will also be given to participants to assess adjustment and well-being. We will examine dietary adherence in participants with PKU by measuring blood Phe levels using a standard blood spot test. Historical Phe levels will also be correlated with current performance.
There are three objectives to the current study. First, to compare the cognitive performance of participants with PKU against that of age-matched healthy controls. Second, to examine how cognitive abilities in PKU change over time, with a particular focus on the influence of dietary abandonment. Finally, we will investigate the impact of current and historical levels of Phe in individuals with PKU and its effect on cognitive outcomes and well-being.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
19/WM/0080
Date of REC Opinion
16 May 2019
REC opinion
Further Information Favourable Opinion