CLINICAL AND GENETIC ASPECTS IN THE EARLY DIAGNOSIS OF WILLIAMS-BEUREN SYNDROME: CURRENT EVIDENCE

Abstract

INTRODUCTION: children made fragile by this syndrome present a set of characteristic signs and symptoms, which vary according to the extension of the damage in the genes responsible for the pathology. Considering the lack of research and literature in Brazil regarding this grievance in children's health, we decided to develop this theme as the final paper of the nursing course. OBJECTIVE: identify clinical and genetic aspects involved in early medical diagnosis of Williams-Beuren syndrome in the current literature. METHODOLOGY: this was an integrative literature review study, by searching the databases Latin American and Caribbean Health Sciences Literature (LILACS), Medical Literature Analysis and Retrieval System on-line (MEDLINE), Public Medline (PubMed) and the virtual libraries Sci-entific Electronic Library Online (SciELO), chosen for their wide academic diffusion. RESULTS AND DISCUSSION: it was evidenced that it is necessary that healthcare professionals, especially nurses, from all levels of care, have generic competences and skills related to this pathology, which include not only phenotypic knowledge and clinical aspects, but also the ability to quickly, effectively and safely guide their work processes. FINAL CONSIDERATIONS: the nurse facing this clinical condition, needs to understand the unfolding network of signs and symptoms involved, so that then can align the Nursing Process (NP) for a more qualitative, autonomous, human and interprofessional assistance.