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

This study looked at 415 girls with autism to understand how autism presents differently in females. They found that 16% were diagnosed late. Older girls showed two main patterns: some had good language skills but struggled socially, while others had more severe autism with language delays and intellectual disability. The researchers noted that girls with autism show very different symptoms, making diagnosis challenging and highlighting the need for better assessment tools designed specifically for females.

This descriptive cross-sectional study analyzed medical records of 415 girls and female adolescents with autism spectrum disorder (ASD) monitored at a tertiary hospital from 2002-2024. The research identified significant clinical variability in female autism presentation, with 16% receiving late diagnoses. Two distinct profiles emerged in older girls: one compatible with the female autism phenotype (preserved language, lower intellectual disability, social difficulties) and another characterized by profound autism features (no language, higher intellectual disability, epilepsy, regression). Preschoolers predominantly showed cognitive impairment or difficulty with formal assessments.

Family history of ASD or broader autism phenotype was present in 19.5% of cases, highlighting the need for improved diagnostic sensitivity and specialized assessment tools.

Findings suggest need for gender-specific diagnostic tools and heightened awareness of female autism presentations. Clinicians should consider different phenotypic patterns when assessing girls, particularly distinguishing between subtle social communication difficulties and more profound autism features. Early identification strategies should account for the unique presentation patterns observed in females to reduce diagnostic delays.

Single-center retrospective study limits generalizability. The study spans 22 years, during which diagnostic criteria and practices evolved. Sample selection from a tertiary hospital may introduce bias toward more complex cases. Lack of comparison with male cohorts limits understanding of sex-specific differences.

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.