Síndrome de CRI du CHAT: revisão bibliográfica

Abstract

NTRODUCTION: Genetic diseases are those that present changes in the genetic material, which may have a hereditary character, that is, when the disease passes from the father to the child. There are rare genetic diseases like the Cri Du Chat Syndrome, where, for every 50 thousand people, one is affected by it and 1% of the carriers may have severe mental retardation. OBJECTIVES: to present concepts, diagnosis and treatment of Cri Du Chat Syndrome, better known as cat meow syndrome. METHODOLOGY: the work was built through theoretical research; a literature review in books, electronic articles and websites that address the theme, in databases: Scielo, Lilacs, Scopus and others; materials with publication dates between 2010 and 2020 were analyzed. RESULTS: based on the results found, it was possible to understand the disease as a genetic abnormality in the chromosome (chromosome 5), which may cause delay in neuropsychomotor development and in more severe cases, malfunction of the kidneys and heart. For the diagnosis of Cri Du Chat Syndrome it is necessary to perform physical exams, such as: inguinal hernia, muscle tone, recti diastasis and others. After diagnosis, the doctor will indicate which treatment is most suitable, varying according to each child, in order to treat and control symptoms. FINAL CONSIDERATIONS: it is understood that when the syndrome is diagnosed early, the individual may show significant improvements and excellent control of symptoms. Therefore, it is essential to know the Cri Du Chat Syndrome clearly to detect possible symptoms, make diagnoses with ease and consequently treat the disease.