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Cognitive Findings and Behavior in Children and Adolescents with Phenylketonuria

Cappelletti, Simona PsyD*; Cotugno, Giovanna MD; Goffredo, Bianca M. MD; Nicolò, Rosanna RD; Bernabei, Silvia M. RD; Caviglia, Stefania PsyD*; Di Ciommo, Vincenzo MD, MSc§

Journal of Developmental & Behavioral Pediatrics: July/August 2013 - Volume 34 - Issue 6 - p 392–398
doi: 10.1097/DBP.0b013e31829a79ef
Original Articles

Objective: The primary aim of this study was to assess cognitive development, in particular that of executive functions (EFs), and behavioral findings for patients with early treated phenylketonuria (PKU). Furthermore, we evaluated the relationships of our findings with plasma levels of Phe and adherence to dietary prescriptions.

Methods: A cross-sectional design was adopted. Patients who had early treated PKU, who were older than 4 years, and who were regularly seen by a physician were enrolled in the study. Cognitive development was assessed with Wechsler Scales appropriate to the chronological age of subjects in the study. Executive functions were assessed using the Tower of London test, and behavioral findings were quantified with the Child Behavior Checklist.

Results: Thirty-five patients were enrolled (mean age 11.5 years, SD ± 6.2). The mean Full Scale intelligence quotient was in the normal range (93.4 ± 17.4), without significant difference between the verbal intelligence quotient (mean, 94.3 ± 16.1) and performance intelligence quotient (mean, 93.9 ± 18.0). The majority of patients showed a deficit within the EF domain of cognitive abilities (mean lower than 1.8 SD of the normal mean), 8 of them showing a score <2 SD lower than the normal mean. Internalizing problems were also observed in 12 patients (38.7%) and were higher in adherent patients and in patients with a lower intelligence quotient.

Conclusion: After early diagnosis and treatment of PKU, residual problems can be found in EFs of patients not achieving satisfactory Phe levels, while scores of internalizing behaviors were higher in compliant patients.

*Unit of Clinical Psychology, Department of Neurosciences;

Division of Metabolic Diseases, Department of Paediatrics;

Laboratory of Biochemistry, Department of Laboratory;

§Epidemiology Unit, Medical Directorate, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Address for reprints: Vincenzo Di Ciommo, MD, MSc, Epidemiology Unit, Medical Directorate, Bambino Gesù Children's Hospital, IRCCS, V. F. Baldelli, 41, 00146 Rome, Italy; e-mail:

Disclosure: This investigation was supported by the Italian Ministry of Health (1-year grant to R.N. and 6-month grant to S.C.). The authors declare no conflict of interest.

Details of ethical issues are in the last sentence of section Methods.

Received November 14, 2012

Accepted April 21, 2013

© 2013 by Lippincott Williams & Wilkins