Transtorno do espectro autista e neurofibromatose tipo 1: relato de caso

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficiencies in social communication, restricted interests and repetitive behaviors. ASD often coexists with other mental and physical health problems. In the USA, in 2020, it is estimated that 1 in 36 children were identified with autism, and in Brazil, this would be equivalent to around 4.87 million people with the disorder. ASD has a complex genetic basis, divided into syndromic ASD (caused by mutations in a single gene) and non-syndromic ASD (associated with several affected genes). Twin studies show a strong genetic component linked to autism, but there are also environmental influences. Neurofibromatosis Type 1 (NF1) is a genetic condition that increases the risk of autism and other neurological problems. It is caused by mutations in the NF1 gene and can manifest itself due to neomutations in up to 50% of patients, without requiring a family history. People with NF1 are more likely to have autistic traits, as well as a risk of developing tumors and other physical symptoms, such as café-au-lait spots on the skin. Early diagnosis is essential for both conditions, allowing the implementation of appropriate care plans to improve patients' quality of life. This study reports the case of a patient with NF1 and childhood autism, seeking correlations with the literature on diagnosis, genetics and clinical manifestations.