INVESTIGATION THE IQ OF CHILDREN OVER 5 YEARS OLD WITH PHENYLKETONURIA, IDENTIFIED IN THE NATIONAL SCREENING PROGRAMS

Phenylketonuria is a type of congenital and genetic metabolic disease of autosomal recessive type, which due to the deficiency or lack of phenylalanine hydroxylase enzyme, the amino acid phenylalanine is not converted to tyrosine and causes an increase of phenylalanine in the blood, especially in the brain, and as a result, causes irreversible complications including irreversible mental retardation. The aim of this study was to investigate the IQ of children with phenylketonuria identified in the national PKU screening program for children over 5 years of age.

This cross-sectional study was conducted in the pediatric center of Shahid Motahari hospital in Urmia during 2011-2014. The participants in this study were selected from children with phenylketonuria who referred to the pediatric clinic of Shahid Motahari Hospital in Urmia and were included in the study. Twenty-five children were included in the study using the full number method, and the required information was extracted from the patients' files and analyzed.

The mean age of the studied children was 6.32±4.33 years and the average age of diagnosis was 30.28±52.24 days. The mean level of phenylalanine mg/dl was 5.40±4.33 and the mean IQ was 93.56±12.99. The results showed that 18 children (72%) have medium to high IQ. Adherence to the diet was observed in the majority of 21 patients (84%). The results of the analysis showed that IQ has a statistically significant relationship with dietary compliance and phenylalanine level (P<0.05).

The PKU screening program in West Azerbaijan province has been effective and we have seen a reduction in the complications of this disease. However, despite the follow-up and implementation of the program, we still see some special complications such as mental retardation, which requires the coherence and continuity of the program in order to minimize the complications caused by this disease.