Investigation of main risk parameters for mental retardation development in PKU patients in Yerevan

Abstract

This study was focused on problems in the management of PKU patients related to health outcomes in Armenia. PKU (phenylketonuria) is a genetic disorder, which causes mental and physical retardation in untreated children. PKU as a disease can not be prevented if the child has a genetic predisposition. But severe mental retardation as a consequence can be prevented if the disease is diagnosed early and appropriate dietary treatment is met. However, the majority of patients with PKU in Armenia have severe mental retardation. Routine screening, a standard practice in many countries, is not done for newborns in Armenia now. Phenyfree formula although available was received by minority of PKU patients. There are children with different health outcome even among PKU patients. The majority have severe mental retardation. The objectives of this study were to assess the health care management of diagnosed PKU patients in Armenia and to investigate risk factors that effect the health status of Armenian PKU patients. A case series study was conducted and evaluative judgment was based on data from this cases. 29 PKU patients from 0 to 16 years for whom PKU was diagnosed using blood test were included in the study As anycase series study requires the definite hypotheses were stated, then variables which can be potential risk factors for development of complications in PKU children were derived, data collection form has been developed in a way that data can be collected about this factors for each patient, the data were collected using several data sources, data analyses was performed in order toreveal the relationships of this factors to child’s health outcome as a dependent variable. This study observed the following risk factors that associated with health outcomeof the patients: not appropriate system for diagnosis; absence of routine screening for newborns; insufficient provision of food; poor attendance of physicians office; poor control by blood screening; low knowledge of parents and lack of information for them about the disease.