Quality of life of adolescent, children and young adults with neurofibromatosis type 1: a scoping review

Abstract Neurofibromatosis Type 1 (NF1) is a phakomatosis with an autosomal dominant inheritance pattern. The clinical expression of the disorder and its associated complications exhibit marked variability. The aim is to map the key concepts and findings related to the quality of life of children, adolescents, and young adults with Neurofibromatosis Type 1, and to identify gaps in the existing body of literature on this topic. The literature search was performed across multiple databases, including PubMed/MEDLINE, EMBASE, Web of Science, LILACS, CINAHL, Open Grey, and Google Scholar. Eligible studies were selected and evaluated for methodological quality using the Checklist for Analytical Cross-Sectional Studies. Thirty-nine records were screened for eligibility by two independent reviewers. Of these, eight studies met the predefined inclusion criteria and were included in the final review. Neurofibromatosis Type 1 is a complex disorder characterized by a wide range of comorbidities, which directly impact the quality of life of affected individuals. Intervention studies focused on improving quality of life are essential to support and enhance well-being in this population.