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Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities

Published online by Cambridge University Press:  17 March 2004

Peter J Anderson ,
Stephen J Wood ,
Dorothy E Francis ,
Lee Coleman ,
Linda Warwick ,
Sue Casanelia ,
Vicki A Anderson  and
Avihu Boneh
Peter J Anderson
Affiliation:
Department of Psychology, Royal Children's Hospital, Australia.
Stephen J Wood
Affiliation:
Department of Psychology, Royal Children's Hospital, Australia.
Dorothy E Francis
Affiliation:
Metabolic Services, Genetic Health Services Victoria, Australia.
Lee Coleman
Affiliation:
Department of Radiology, Royal Children's Hospital, Australia.
Linda Warwick
Affiliation:
Metabolic Services, Genetic Health Services Victoria, Australia.
Sue Casanelia
Affiliation:
Metabolic Services, Genetic Health Services Victoria, Australia.
Vicki A Anderson
Affiliation:
Department of Psychology, The University of Melbourne, Australia.
Avihu Boneh
Affiliation:
Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
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Abstract

Impact of white matter abnormalities (WMAs) on neuropsychological functioning in children with early-treated phenylketonuria (ETPKU) was examined. Children with ETPKU (20 males, 12 females, mean age 11 years 2 months, SD 3 years 6 months) and controls (20 males, 14 females, mean age 10 years 4 months, SD 3 years 1 month) aged 7 to 18 years were assessed using tests of attention, processing speed, memory and learning, executive function, and academic achievement. Those with ETPKU, exhibiting WMAs extending into subcortical/frontal regions (n=14), displayed significant impairments in a number of domains. Children with ETPKU but no WMAs (n=6), or pathology restricted to the posterior periventricular region (n=12), displayed only mild deficits. Concurrent phenylalanine levels correlated weakly with cognitive parameters, whereas lifetime phenylalanine levels were associated with deficits in several cognitive domains. Impairments in children with extensive WMAs are consistent with compromised neural transmission, which is characterized by dysmyelination. However, children with no detectable, or mild WMAs, also displayed cognitive problems, indicating that neuropsychological functioning in children with ETPKU is determined by a complex interaction of biological and environmental factors.

Type
Original Articles
Information
Developmental Medicine and Child Neurology , Volume 46 , Issue 4 , April 2004 , pp. 230 - 238
Copyright
© 2004 Mac Keith Press

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