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Neuropsychological functioning in children with early‐treated phenylketonuria: impact of white matter abnormalities
Author(s) -
Anderson Peter J,
Wood Stephen J,
Francis Dorothy E,
Coleman Lee,
Warwick Linda,
Casanelia Sue,
Anderson Vicki A,
MD Avihu Boneh
Publication year - 2004
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2004.tb00477.x
Subject(s) - neuropsychology , cognition , phenylketonurias , psychology , pediatrics , white matter , medicine , audiology , phenylalanine , psychiatry , magnetic resonance imaging , biology , biochemistry , amino acid , radiology
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.