Proyecto de titulación embargado con fines de de publicación de impacto

Abstract

Rett syndrome is a neurodevelopmental disorder that causes neurological impairment, mainly affecting females in about 1 in 10,000 newborns due to an alteration in the methyl CpG-binding protein 2 gene on the long arm of the X chromosome. Symptomatology begins at approximately six months and is considered the second most prevalent intellectual disorder in females after Down syndrome. The general objective of the present review is to determine the different updated diagnostic methods for Rett syndrome. Literature Review. For this investigation, a search for documents about current diagnostic methods for Rett Syndrome in English and Spanish, using the keywords such as "Rett Syndrome" AND "Diagnosis" in the last five years between 2017 and 2022, in PubMed and LILACS databases was performed. Although the diagnosis of certainty consists of genetic testing, this has some drawbacks, such as the turnaround time for results and cost, so this review concludes that the primary diagnostic method to identify Rett syndrome is through clinical examination, with the determination of specific traits from six months of age.