Difficulties Confronting Children Having Inborn Errors of Amino acids Metabolism and their Caregivers: An Assessment Study

Abstract

ABSTRACT Inborn errors of amino acids metabolism are a family of genetic conditions in which an enzyme deficiency results in the accumulation of amino acids or a proximal metabolite. Aim: This study aimed to assess the difficulties confronting children having inborn errors of amino acids metabolism and their caregivers. Design: A descriptive study. Sampling: A purposive sample consisted of 94 of children and their accompanying caregivers. Setting: This study was conducted at the specialized genetic outpatient clinic in Medical and clinical Genetics Department, Faculty of Medicine, Ain Shams University Hospital. Data collection tools: which including 6 tools (1st tool an interview questionnaire sheet to assess socio- demographic data of the studied children and their Caregivers, Medical history of children with Inborn errors of amino acids metabolism , Caregivers knowledge about Inborn errors of amino acids metabolism, Assessment of children’s Psychological and Social needs, 2nd tool assess caregivers reported practices related to dietary management, medication administration, medical exercise, follow up for physical assessment of children as: weight, height, physical exercises, and oral care. 3rd tool Social Anxiety Scale Children, 4th Self-Esteem Inventory, 5th Children Aggression Behavior Scale and 6th A-Caregiver burden scale –B- children burden scale). Results: This than more half of the studied children aged from 5 to less than 10 years with mean age 6.48±2.31 and less than three quarters of them were male. The mean age of studied Caregivers mean age (30.25±5.27 years), about more than one third of them had satisfactory knowledge about. As well more than three fourth of studied Caregivers had poor total reported practice. Conclusion: Up on the finding of the current study, the great majority of caregivers had satisfactory knowledge and most of them had inadequate total reported practice, more over the difficulties faced caregivers represented in social burden and psychological burden on the same line, difficulties among children represented in low self-esteem, aggression, anxiety and poor scholastic achievement on the context, caregivers and their children need social and psychological needs satisfaction. Finally, the researcher achieves the study aim and questions. Recommendations: Identification of barriers that may hinder the ability of the inborn errors of amino acids metabolism child & their caregivers to practice & maintain proper habits related to self – care activities.