Volume 27, Issue 3 (Avicenna Journal of Clinical Medicine-Autumn 2020)                   Avicenna J Clin Med 2020, 27(3): 178-183 | Back to browse issues page


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Mortazavi Z, Salehi Sadati S S, Safari M, Gohari N, Mortazavi S S. Investigation of Demographic Indicators of Phenylketonuria Patients and Determining the Reasons for Their Referral to Rehabilitation Centers. Avicenna J Clin Med 2020; 27 (3) :178-183
URL: http://sjh.umsha.ac.ir/article-1-2096-en.html
1- , s.mortazavi.ot@gmail.com
Abstract:   (2607 Views)
Background and Objective: Phenylketonuria is one of the most common metabolic disorders which causes brain abnormalities in children if they do not receive treatment or their treatment is delayed or ineffective. In
this regard, the present study aimed to investigate the demographic characteristics of phenylketonuria patients and determine the reasons for their referral to rehabilitation centers.
Materials and Methods: This descriptive study was performed on 31 patients diagnosed with phenylketonuria who were willing to participate in this study, in Hamadan, Iran up to summer 2019. Based on the objectives and variables of the study, a questionnaire with 25 items was designed. The questionnaires were completed through interviews with the parents of subjects. Finally, the collected data were analyzed in SPSS software (version 16) using descriptive statistics indicators.
Results: Based on the results, the mean age of the participants was 79.7±65.8 months and 18 (58.9%) and 13 (41.1%) of them were females and males, respectively. Moreover, seven (22.6%) cases were diagnosed through screening. Majority of their parents had below undergraduate education (96.8% of fathers and 90.3% of mothers). In addition, most of the children with phenylketonuria (38.7%) were the first child and the only child of the family. Besides, the reason for their referral to rehabilitation centers included seizures and behavioral, movement, and speech disorders. It was also found that in 71% of cases there was a disorder while only 35% of patients received rehabilitation services.
Conclusion: Despite the fact that the need for rehabilitation services is diagnosable in children with phenylketonuria from an early age (nine months and six days old), only a low percentage of these children benefit from rehabilitation services in the city of Hamadan. Therefore, it is necessary to increase the quantity and quality of such services.
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Type of Study: Original | Subject: Occupational Therapy

References
1. Fatholahpuor A, Alimoradi S, Yousefi F, Kashefi H. Comparison of IQ scores between children with phenylketonuria and healthy children referring to Besat Hospital in Sanandaj between 2017 and 2018. Sci J Kurdistan Univ Medical Sci. 2020;24(5):12-21.
2. Nazi S, Rohani F, Sajedi F, Biglarian A, Setoodeh A. Motor development skills of 1-to 4-year-old Iranian children with early treated phenylketonuria. JIMD Rep. 2013;12:85-9. PMID: 23918467 DOI: 10.1007/8904_2013_248
3. Bilginsoy C, Waitzman N, Leonard CO, Ernst SL. Living with phenylketonuria: perspectives of patients and their families. J Inherited Metab Dis. 2005;28(5):639-49. PMID: 16151894 DOI: 10.1007/s10545-005-4478-8
4. 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. PMID: 17591452 DOI: 10.1016/j.ymgme.2007.05.006
5. Fidika A, Salewski C, Goldbeck L. Quality of life among parents of children with phenylketonuria (PKU). Health Qual Life Outcomes. 2013;11(1):54. PMID: 23537423 DOI: 10.1186/1477-7525-11-54
6. Umphred DA, Lazaro RT. Neurological rehabilitation. New York: Elsevier Health Sciences; 2012.
7. Morovatdar N, Aval SB, Yazdi S, Norouzi F, Mina T. The epidemiological and clinical study of Phenylketonuria (PKU) patients in Khorasan, North-eastern Iran. Iran J Neonatol. 2015;6:18-22.
8. Batshaw ML, Roizen N. Children with disabilities. 5th ed. Baltimore: Brookes Publishing; 2002.
9. Maduakor-Ugo AC. Effect of education on stigma of epilepsy in south eastern nigeria. Minnesota: Walden University; 2011.
10. Kim EH, Ko TS. Cognitive impairment in childhood onset epilepsy: up-to-date information about its causes. Korean J Pediatr. 2016;59(4):155-64. PMID: 27186225 DOI: 10.3345/kjp.2016.59.4.155
11. Soto-Larracoechea MM. Importance of rehabilitation in multidisciplinary management of children with phenylketonuria: a case report. Rev Mexicana Med Física y Rehabit. 2013;25(3-4):105-9.
12. Gejão MG, Ferreira AT, Silva GK, Anastácio-Pessan Fda L, Lamônica DA. Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism. J Appl Oral Sci. 2009;17(spe):69-75. PMID: 21499658 DOI: 10.1590/s1678-77572009000700012
13. De Felice S, Romani C, Geberhiwot T, MacDonald A, Palermo L. Language processing and executive functions in early treated adults with phenylketonuria (PKU). Cogn Neuropsychol. 2018;35(3-4):148-70. PMID: 29488825 DOI: 10.1080/02643294.2017.1422709
14. Beblo S, Reinhardt H, Demmelmair H, Muntau AC, Koletzko B. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr. 2007;150(5):479-84. PMID: 17452220 DOI: 10.1016/j.jpeds.2006.12.011
15. Wu W, Sheng D, Shao J, Zhao Z. Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria. J Paediatr Child Health. 2011;47(7):441-7. PMID: 21332590 DOI: 10.1111/j.1440-1754.2010.01996.x
16. Madden M. Phenylketonuria: defects in amino acid metabolism. Mol Med (SCJMM). 2004;5:57-61.
17. Kim W, Erlandsen H, Surendran S, Stevens RC, Tyring SK, Matalon R, et al. Trends in enzyme therapy for phenylketonuria. Mol Ther. 2004;10(2):220-4. PMID: 15294168 DOI: 10.1016/j.ymthe.2004.05.001
18. Hoeks M, Heijer Md, Janssen M. Adult issues in phenylketonuria. Neth J Med. 2009;67(1):2-7. PMID: 19155540
19. Badiee S, Morovatdar N, Hossini SM, Norouzi F, Mina T. Epidemiological and clinical study of phenylketonouria (PKU) disease in Khorasan Province; Northeast Iran. Med J Mashhad Univ Med Sci. 2014;57(3):571-8. [Persian]
20. Read CY. The demands of biochemical genetic disorders: a survey of mothers of children with mitochondrial disease or phenylketonuria. J Pediatrc Nurs. 2003;18(3):181-6. PMID: 12796860 DOI: 10.1053/jpdn.2003.36
21. Soleymani Z, Keramati N, Rohani F, Jalaei S. Factors influencing verbal intelligence and spoken language in children with phenylketonuria. Indian Pediatr. 2015;52(5):397-401. PMID: 26061925 DOI: 10.1007/s13312-015-0644-8
22. Keramati N, Soleymani Z, Rouhani F, Jalaie S, Alaee MR. The effect of the age of treatment onset and quality of dietary control on language and intelligence functions in patients with Phenylketonuria. Bimonth Audiol Tehran Univ Med Sci. 2013;22(3):42-51. [Persian]
23. Janzen D, Nguyen M. Beyond executive function: non-executive cognitive abilities in individuals with PKU. Mol Genet Metab. 2010;99(Suppl 1):S47-51. PMID: 20123470 DOI: 10.1016/j.ymgme.2009.10.009
24. Shiva S, Mahdavi M. Study on laboratory and clinical status of children and adolescents with phenylketonuria in East-Azerbaijan. Med J Tabriz Univ Med Sci. 2009;31(2):51-5. [Persian]
25. Badiee MS, Kameli M, Sharifi S, Hosaini F. Prevalence of congenital phenylketonuria in neonates born in Torbat-E-Heydarieh during 2011-2013. J Torbat Heydarieh Univ Med Sci. 2014;2(1):28-33. [Persian]
26. Heidari A, Arab M, Etemad K, Damari B, Lotfi M. National Phenylketonuria screening program in iran; why and how. J Sch Public Health Instit Public Health Res. 2018;16(2):148-63. [Persian]
27. Zafar Mohtashami A, Khodadadi F, Motamedi N. Epidemiologic study of phenylketonuria disease in Lorestan province. Yafte. 2016;18(3):5-11. [Persian]
28. Badiee S, Morovatdar N, Hoseini Yazdi S, Norouzi F, Mina T. Clinical and epidemiologic review of Phenylketonuria in Khorasan Province. Med J Mashhad Univ Med Sci. 2014;3:571-8. [Persian]
29. Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarimi AH. Incidence of phenylketonuria in Southern Iran. Iran J Med Sci. 2010;35(2):137-9.
30. Eshraghi P, Abbaskhanian A, Bijani A, Hosseinzadeh S. Evaluation of nutritional status and growth in phenylketonuria patients in Mazandaran Province Iran. J Babol Univ Med Sci. 2011;13(5):58-62. [Persian]

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