German, Elaine; (2001) Neuropsychological function in adults with early and continuously treated phenylketonuria. Doctoral thesis (D.Clin.Psy), UCL (University College London).

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Abstract

Phenylketonuria (PKU) is an inherited metabolic disease which, if left untreated, usually results in severe learning difficulties. While dietary treatment programmes have greatly improved outcome in PKU, children with treated PKU have been found to be selectively impaired on tests of executive functions. These impairments have been attributed to dysfunction of lateral regions of the prefrontal cortex. This study investigated whether adults with treated PKU would show cognitive deficits similar to those observed in children, by comparing the performance of 20 adults with continuously treated PKU and 20 matched healthy control participants on a battery of neuropsychological tests. The battery included measures thought to be sensitive to dysfunction of the lateral prefrontal cortex, as well as measures thought to be less sensitive to dysfunction of this region. The results suggested that the PKU participants were selectively impaired on the tests of executive function. These impairments were relatively subtle, and were primarily reflected in increased response times. It is argued that these findings suggest that, despite continued treatment, adults show a selective executive deficit similar to that which has been observed in children. Furthermore, while it is possible that stricter treatment could potentially eliminate this deficit, it is questionable how many patients would be able to achieve the necessary level of dietary control. The implications of these findings for the clinical management of PKU are discussed.

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