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Executive dysfunction in treated phenylketonuric patients

[journal article]

Azadi, Bahare; Seddigh, Arshia; Tehrani-Doost, Mehdi; Alaghband-Rad, Javad; Ashrafi, Mahmoud Reza

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Abstract Objectives: Executive function deficits have been described in early and continuously treated patients with phenylketonuria (PKU). The aim of this study was to examine performance on executive function tasks of treated patients with PKU diagnosed by 2 years of age. Patients and methods: Ten patients with PKU and normal intelligence score who were diagnosed before the age of 2 years and subsequently treated continuously, were compared with 15 typically developing control children on a battery of neuropsychological tests, including the tower of London (TOL), continuous performance test (CPT), and Stroop test. Results: PKU cases showed significantly poorer performance on the TOL task compared to the control group with the difference being significant in the first three levels of the test. With the CPT, PKU cases had significantly more omission errors than control subjects. On the Stroop test there was no statistically significant difference between the groups. No significant correlation was found between the concurrent serum phenylalanine (Phe) level and results of the executive tests in PKU patients. Conclusion: This study identified executive dysfunction in early-treated PKU patients with normal IQ, particularly in the planning and attention domains. Further studies are required to compare the results with those from other neurodevelopmental disorders such as ADHD and autism, to establish whether the pattern of findings is specific to PKU.
Classification Psychological Disorders, Mental Health Treatment and Prevention; Medicine, Social Medicine
Free Keywords early-treated phenylketonuria; executive function; neuropsychology; serum phenylalanine;
Document language English
Publication Year 2009
Page/Pages p. 360-368
Journal European Child & Adolescent Psychiatry, 18 (2009) 6
DOI http://dx.doi.org/10.1007/s00787-009-0738-8
Status Published Version; peer reviewed
Licence PEER Licence Agreement (applicable only to documents from PEER project)