Background: Fragile X syndrome (FXS) requires molecular confirmation, yet diagnostic workflows vary in their capacity to characterize expansions and connect diagnosis with subsequent care. This review evaluated alignment between current recommendations and published diagnostic practice. Methods: We combined a structured review of recommendations for FMR1 molecular diagnosis, complementary testing, genetic counseling, and family testing with a scoping review of peer-reviewed primary studies reporting FMR1 diagnostic or screening workflows relevant to pediatric FXS. PubMed/MEDLINE, Embase, and Scopus were searched without date restrictions. Thirty-four studies were included, with design-specific risk-of-bias assessment and exploratory exact analyses of factors associated with post-initial FMR1 testing. Results: Molecular or genomic testing was reported in all 34 studies, but workflows ranged from conventional PCR and Southern blot to TP-PCR, methylation-sensitive assays, and sequencing-based approaches. Post-initial FMR1 testing was reported in 22/34 studies (64.7%), with positive-result follow-up documented in 19/34 (55.9%) and follow-up of inconclusive or initially negative results in 14/34 (41.2%). FMR1 sequencing was uncommon (3/34, 8.8%). Genetic counseling was addressed in 32/34 studies (94.1%), but documented as delivered in only 9/34 (26.5%); family evaluation and multidisciplinary management were also inconsistently reported. Conclusions: Published evidence broadly supports molecular FMR1 testing but shows variability in molecular characterization and downstream care. Standardization should prioritize analytically appropriate workflows, additional testing when required by the initial result or assay limitations, and stronger integration of molecular diagnosis with genetic counseling, family evaluation, and multidisciplinary management.

Background/Objectives: Timely identification of autism spectrum disorder (ASD) is essential for access to early intervention; however, diagnostic delay remains a persistent challenge. Methods: This scoping review synthesized evidence from eight studies (>24,000 participants), most conducted in the Southeast region, on diagnostic pathways, screening practices, and barriers to ASD identification in Brazil, following PRISMA-ScR guidelines. Results: Across studies, mean age at diagnosis frequently exceeded 48–60 months, while the interval between first caregiver concern and diagnosis ranged from 24 to 36 months, with tertiary-care samples reporting diagnostic ages approaching 79 months. Diagnosis was predominantly specialist-driven, with limited involvement of primary care providers (PCPs). Later identification was associated with reliance on the public health system in a multinational analysis that included Brazil, while geographic concentration of specialized services and socioeconomic inequalities were identified as reported barriers across the included studies. Race/ethnicity was rarely reported. Delays emerged from interacting multilevel barriers, including limited caregiver awareness, dismissal of parental concerns, inconsistent developmental surveillance, fragmented referral pathways, and shortages of specialists. Structural inequities, particularly geographic disparities and urban concentration of services, compounded these challenges. Conclusions: The evidence suggests delayed ASD diagnosis in Brazil reflects systemic gaps in care organization rather than isolated clinical factors. Strengthening PCP-based developmental surveillance and improving referral coordination are key strategies to reduce preventable delays and promote earlier access to intervention.

Background/Objectives: To map mental illness-related stigma and identity-based stigma and discrimination in relation to depression, anxiety, and mental health care processes among Brazilian youth. Methods: This scoping review followed PRISMA-ScR guidelines and the Arksey and O’Malley framework. PubMed/MEDLINE, Scopus, SciELO, LILACS, and CAPES were searched for studies examining stigma in relation to depression, anxiety, mental health outcomes, or care-related processes among Brazilian children and adolescents. Mixed adolescent and young-adult samples were included when they contained adolescents within the target age range. Results: Seven studies met the inclusion criteria. Stigma was identified across four domains: public, structural, self-, and courtesy stigma. Perceived discrimination was associated with major depression (aPR = 2.00, 95% CI 1.37–2.97) and severe depressive symptoms (aOR = 1.71, 95% CI 1.23–2.38) in studies examining racial discrimination and discrimination affecting sexual and gender minority youth. These estimates were derived from samples that included young adults. Qualitative evidence linked stigma to symptom concealment, barriers to help-seeking and diagnostic processes, and difficulties engaging with care. Evidence was limited by predominantly cross-sectional and qualitative designs, uneven geographic representation across Brazil, and a lack of culturally validated stigma measures. Conclusions: Stigma appears to be a multi-level factor associated with adverse mental health outcomes and with reported barriers across the mental health care pathway among Brazilian youth. Stigma-informed approaches may support earlier engagement with care among marginalized youth, but their effectiveness remains to be evaluated.