Neuropsychology of early-treated phenylketonuria

specific executive function deficits.

M. C. Welsh, B. F. Pennington, Sally J Ozonoff, B. Rouse, E. R. McCabe

Research output: Contribution to journalArticle

244 Citations (Scopus)

Abstract

This study explored the hypothesis that children with early-treated phenylketonuria (PKU) are selectively impaired on executive function measures, even when still on diet. The rationale for this hypothesis is that even mild elevations in phenylalanine (Phe) can lead to lower central levels of biogenic amines, including dopamine (DA). We hypothesize that this mild DA depletion causes subtle prefrontal dysfunction, which in turn affects executive functions such as set maintenance, planning, and organized search. 11 preschool early-treated PKU children (M age = 4.64) and a sample of age- and IQ-matched unaffected peers (n = 11) were evaluated on a battery of executive function (EF) measures. In addition, a "non-executive function" task, recognition memory, was administered to all subjects. Group comparisons demonstrated that PKU children were significantly impaired on an executive function composite score; there were no group differences, however, in recognition memory. These results supported the hypothesized specific deficit in executive function. Furthermore, within the PKU group the executive function composite score was significantly negatively correlated with concurrent phenylalanine levels, even after controlling for the correlation between IQ and executive function skills. This second finding provides support for the proposed biochemical mechanism underlying the specific cognitive deficits.

Original languageEnglish (US)
Pages (from-to)1697-1713
Number of pages17
JournalChild Development
Volume61
Issue number6
StatePublished - Dec 1990
Externally publishedYes

Fingerprint

neuropsychology
Neuropsychology
Phenylketonurias
Executive Function
deficit
Phenylalanine
Dopamine
Biogenic Amines
Group
Maintenance
Diet
planning
cause

ASJC Scopus subject areas

  • Psychology(all)
  • Developmental and Educational Psychology

Cite this

Welsh, M. C., Pennington, B. F., Ozonoff, S. J., Rouse, B., & McCabe, E. R. (1990). Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Development, 61(6), 1697-1713.

Neuropsychology of early-treated phenylketonuria : specific executive function deficits. / Welsh, M. C.; Pennington, B. F.; Ozonoff, Sally J; Rouse, B.; McCabe, E. R.

In: Child Development, Vol. 61, No. 6, 12.1990, p. 1697-1713.

Research output: Contribution to journalArticle

Welsh, MC, Pennington, BF, Ozonoff, SJ, Rouse, B & McCabe, ER 1990, 'Neuropsychology of early-treated phenylketonuria: specific executive function deficits.', Child Development, vol. 61, no. 6, pp. 1697-1713.
Welsh, M. C. ; Pennington, B. F. ; Ozonoff, Sally J ; Rouse, B. ; McCabe, E. R. / Neuropsychology of early-treated phenylketonuria : specific executive function deficits. In: Child Development. 1990 ; Vol. 61, No. 6. pp. 1697-1713.
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