Volume 34, Issue 12 (March 2024)
Studies in Medical Sciences 2024, 34(12): 753-759 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
khakzad Z, ghazavi A, abdi A, Abbasi E. INVESTIGATION THE IQ OF CHILDREN OVER 5 YEARS OLD WITH PHENYLKETONURIA, IDENTIFIED IN THE NATIONAL SCREENING PROGRAMS. Studies in Medical Sciences 2024; 34 (12) :753-759
URL: http://umj.umsu.ac.ir/article-1-6142-en.html
URL: http://umj.umsu.ac.ir/article-1-6142-en.html
Associate Professor of Pediatric Neurology, Department of Pediatric Diseases, Faculty of Medicine, Neurophysiology Research Center, Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences, Urmia, Iran (Corresponding Author) , ghazavi.a@umsu.ac.ir
Abstract: (342 Views)
Background & Aim: 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.
Materials & Methods: 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.
Results: 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).
Conclusion: 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.
Materials & Methods: 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.
Results: 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).
Conclusion: 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.
Keywords: IQ, Early Treatment, Neurological Complications, Phenylketonuria, Phenylketonuria Screening
Type of Study: Research |
Subject:
اعصاب کودکان
References
1. Flydal MI, Martinez A. Phenylalanine hydroxylase: function, structure, and regulation. IUBMB Life 2013;65(4):341-9. http://dx.doi.org/10.1002/iub.1150 [DOI:10.1002/iub.1150] [PMID]
2. Herenger Y, Maes E, François L, Pasco J, Bouchereau J, Pichard S, et al. Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients. Mol Genet Metab Rep 2019;20(100498):100498. http://dx.doi.org/10.1016/j.ymgmr.2019.100498 [DOI:10.1016/j.ymgmr.2019.100498] [PMID] []
3. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers 2021;7(1):36. http://dx.doi.org/10.1038/s41572-021-00267-0 [DOI:10.1038/s41572-021-00267-0] [PMID] []
4. Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol Rev 2007;17(2):91-101. http://dx.doi.org/10.1007/s11065-007-9021-2 [DOI:10.1007/s11065-007-9021-2] [PMID]
5. Burgard P. Development of intelligence in early treated phenylketonuria. Eur J Pediatr 2000;159 Suppl 2:S74-9. http://dx.doi.org/10.1007/pl00014388 [DOI:10.1007/PL00014388] [PMID]
6. Fonnesbeck CJ, McPheeters ML, Krishnaswami S, Lindegren ML, Reimschisel T. Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis. J Inherit Metab Dis 2013;36(5):757-66. http://dx.doi.org/10.1007/s10545-012-9564-0 [DOI:10.1007/s10545-012-9564-0] [PMID]
7. Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, et al. Phenylketonuria in adulthood: A collaborative study. J Inherit Metab Dis 2002;25(5):333-46. http://dx.doi.org/10.1023/a:1020158631102 [DOI:10.1023/A:1020158631102] [PMID]
8. Heidari A, Arab M, Etemad K, Damari B, Lotfi M. National Phenylketonuria Screening Program in Iran; Why and How? Sci J Schf Pub Health Instit Pub Health Res 2018;16(2):148-63. [Google Scholar]
9. Daneshi S, Takaloo M, Davarani R, Heidarabadi M. Rezabeigi Davarani E. Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during. Iran J Obstet Gynecol Infertil 2007;24(13):59-69. [Google Scholar]
10. Sadek AA, Hassan MH, Mohammed NA. Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years. Neuropsychiatr Dis Treat 2018;14:2551-61. http://dx.doi.org/10.2147/NDT.S176198 [DOI:10.2147/NDT.S176198] [PMID] []
11. Khemir S, Halayem S, Azzouz H, Siala H, Ferchichi M, Guedria A, et al. Autism in phenylketonuria patients: From clinical presentation to molecular defects: From clinical presentation to molecular defects. J Child Neurol 2016;31(7):843-9. http://dx.doi.org/10.1177/0883073815623636 [DOI:10.1177/0883073815623636] [PMID]
12. Saad K, Elserogy Y, Abdel Rahman AA, Al-Atram AA, Mohamad IL, ElMelegy TTH, et al. ADHD, autism and neuroradiological complications among phenylketonuric children in Upper Egypt. Acta Neurol Belg 2015;115(4):657-63. http://dx.doi.org/10.1007/s13760-014-0422-8 [DOI:10.1007/s13760-014-0422-8] [PMID]
13. Koch R, Moseley K, Ning J, Romstad A, Guldberg P, Guttler F. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol Genet Metab 1999;67(2):148-55. http://dx.doi.org/10.1006/mgme.1999.2863 [DOI:10.1006/mgme.1999.2863] [PMID]
14. Potocnik U, Widhalm K. Long-term follow-up of children with classical phenylketonuria after diet discontinuation: a review. J Am Coll Nutr 1994;13(3):232-6. http://dx.doi.org/10.1080/07315724.1994.10718402 [DOI:10.1080/07315724.1994.10718402] [PMID]
15. Janzen D, Nguyen M. Beyond executive function: non-executive cognitive abilities in individuals with PKU. Mol Genet Metab 2010;99 Suppl 1:S47-51. http://dx.doi.org/10.1016/j.ymgme.2009.10.009 [DOI:10.1016/j.ymgme.2009.10.009] [PMID]
16. Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007;92(1-2):63-70. http://dx.doi.org/10.1016/j.ymgme.2007.05.006 [DOI:10.1016/j.ymgme.2007.05.006] [PMID]
17. Michel U, Schmidt E, Batzler U. Results of psychological testing of patients aged 3-6 years. Eur J Pediatr 1990;149 Suppl 1:S34-8. http://dx.doi.org/10.1007/bf02126297 [DOI:10.1007/BF02126297] [PMID]
18. Brumm VL, Grant ML. The role of intelligence in phenylketonuria: a review of research and management. Mol Genet Metab 2010;99 Suppl 1:S18-21. http://dx.doi.org/10.1016/j.ymgme.2009.10.015 [DOI:10.1016/j.ymgme.2009.10.015] [PMID]
19. Welsh M, Deroche K, Gilliam DA. Neurocognitive models of early-treated Phenylketonuria: insights from meta-analysis and new molecular genetic findings. Handb Dev Cogne Neurosci 2008;2:677-89. [Google Scholar]
20. Ris MD, Williams SE, Hunt MM, Berry HK, Leslie N. Early-treated phenylketonuria: adult neuropsychologic outcome. J Pediatr 1994;124(3):388-92. http://dx.doi.org/10.1016/s0022-3476(94)70360-4 [DOI:10.1016/S0022-3476(94)70360-4] [PMID]
21. Luciana M, Sullivan J, Nelson CA. Associations between phenylalanine‐to‐tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria. Child Dev 2001;72(6):1637-52. http://dx.doi.org/10.1111/1467-8624.00370 [DOI:10.1111/1467-8624.00370] [PMID]
22. Weglage J, Pietsch M, Fünders B, Koch H, Ullrich K. Deficits in selective and sustained attention processes in early treated children with phenylketonuria-result of impaired frontal lobe functions? Eur J Pediatr 1996;155:200-4. [DOI:10.1007/BF01953938] [PMID]
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
