Investigation of Demographic Indicators of Phenylketonuria Patients and Determining the Reasons for Their Referral to Rehabilitation Centers

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.

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.

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.

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.