In the ‘Living with PKU’ project, CogTrack is used to assess cognitive functioning in patients suffering from phenylketonuria (PKU)
The ‘Living with PKU’ project is an online research project, comprised of multiple questionnaires as well as cognitive tasks, aimed at investigating adherence to the dietary management of phenylketonuria (PKU). The overall aim is to assess which factors influence adherence to diet and dietary supplements and what the outcomes are of different levels of adherence to dietary treatment.
PKU is a rare, inherited, metabolic disorder. Patients suffering from it PKU (on average 1 in 12000 worldwide) are unable to sufficiently breakdown phenylalanine (Phe) due to a decreased activity of the enzyme phenylalanine hydroxylase. When left untreated, Phe accumulates in the body, leading to damage to the brain and nervous system. With treatment, severe neurological damage is prevented, but cognitive deficits are may still be observed.
Conventional treatment consists of a protein low diet supplemented with Phe-free protein substitutes, enriched with vitamins and minerals, to ensure a complete diet. These protein substitutes are bitter and acidic in taste and result in an unpleasant aftertaste and bad breath.
Adherence to dietary treatment (especially protein substitutes) tends to decrease with increasing age (typically when patients reach adolescence and adulthood) due to the burden imposed by the strict diet (inconvenience), along with the taste/smell of the substitutes. Non-adherent patients usually have increased (above target range) Phe levels, which are thought to lead to:
1 - Decreased dopamine and serotonin levels
2 - Demyelination in the brain, leading to white matter abnormalities and deficits in cognitive functioning
CogTrack is used to assess core areas of cognitive function in PKU patients in relation to:
1 - Adherence to their dietary treatment
2 - Healthy, age, gender and SES matched controls