Early diagnosis of rare syndromes: Integrative review

Abstract

Some syndromes are classified as rare by the low frequency with which they occur in the population and are characterized by a specific set of signs and symptoms, of genetic cause, due to an abnormality involving one or more chromosomes or genes (mutation), which can be by alterations, deletion, duplication in nitrogenous bases, among others. However, affected people do not always receive an early diagnosis and, in addition, there are few therapeutic options and scientific research in this area is rare. This study is an integrative literature review (ILR) that is based on scientific findings in order to identify and understand problems, situations and vulnerabilities related to the population. The studies were published in the years 2018, 2019, 2020 and 2021, being the equivalent of 14.29% in the year 2018, 28.57% in the year 2019, 14.29% in the year 2020 and about 42, 86% in the year 2021. Therefore, 25.00% of the studies were in France, 12.50% in Brazil, 12.50% in the United States, 12.50% in Germany, 12.50% in the Netherlands and Spain respectively. Thus, the contents of the research found referred to the early diagnosis of rare syndromes.