Um olhar sobre o cuidador de pacientes com deficiência de L-aminoácido descarboxilase aromática: uma revisão crítica

Abstract

INTRODUCTION: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disease that affects neurotransmitter metabolism. Its broad symptoms require lifelong, impacting patients and their caregivers. While there are many approaches regarding the impact on patients, it is of utmost importance to understand the associated declines in caregivers' well-being. The aim of this study was to conduct a review exploring impacts and burdens on caregivers. METHODS: Between October and November 2023, article searches were conducted in the databases: EMBASE, PubMed, SciELO, PEDro, and CINAHL. RESULTS: Four studies were selected with a sample of primary caregivers of children with AADC. Due to the dependency for daily activities, caregivers dedicate many hours, severely impacting their quality of life, negatively affecting family relationships, and requiring significant adaptations in their routine. CONCLUSION: Caregivers' lives are profoundly affected by the demands of caring for individuals with AADC, necessitating an analysis of alternative perspectives for those involved in caregiving.