Girls and female adolescents diagnosed with autism spectrum disorder: A descriptive study

Abstract

Introduction. Autism spectrum disorder (ASD) presents challenges in social communication and behavior. It is more common in males (3:1). Girls receive alternative or delayed diagnoses due to better communication skills, atypical but less unusual interests, greater presence of internalizing behaviors, and camouflage strategies. This can lead to underdiagnosis and limit access to adequate support. Objective. To describe the population of girls and female adolescents (GFA) with ASD being monitored at a tertiary hospital, comparing them according to age and clinical characteristics. Population and methods. Descriptive, cross-sectional study with retrospective analysis of medical records of GFAs evaluated between 2002 and 2024. Data on development, physical examination, and sociodemographic variables were collected. The sample was divided into preschoolers and schoolchildren, and by the presence or absence of language at the time of diagnosis. Results. A sample of 415 GFAs was obtained. Sixteen percent (n = 69) received a late diagnosis. In older girls, two profiles were identified: one compatible with the female phenotype of ASD (language present, lower intellectual disability, consultation for social difficulties) and another with characteristics of profound autism (no language, higher intellectual disability, epilepsy, regression, and greater severity). In preschoolers, cognitive impairment or failure to adapt to formal assessments predominated. A family history of ASD or an broader autism phenotype were present in 19.5% (n = 81) of cases. Conclusion. We observed a high clinical variability, which requires greater diagnostic sensitivity and specific tools to facilitate adequate support.