WP5 | Diagnostic pathway

Understanding sex-bias at a healthcare level is essential in improving the recognition of autism and optimising access to appropriate care for people with autism. The delay between the onset of first symptoms and the diagnosis of autism often spans multiple years. Especially in females, autism is diagnosed late (Bargiela et al., 2016; McCarthy, 2019). Children’s healthcare centres and general practices play an important role in timely diagnosis as they are the first line of contact in the healthcare system. To improve early detection of autism in preventive care, a Dutch guideline was published in 2015 (Van Berckelaer-Onnes et al., 2015). However, a recent qualitative study reported poor guideline adherence and emphasised the importance of easy and accessible training, active screening and closer collaboration between preventive and specialised care (Snijder et al., 2021). Although poor guideline adherence in general negatively affects receiving appropriate healthcare, it more strongly impacts females than males. Sex-bias at a health care level has been documented for various conditions in primary as well as specialised care, with females having a higher risk of misdiagnosis (Thompson & Blake, 2021). For autism, females must exhibit stronger symptoms to be diagnosed with autism (Bargiela et al., 2016; Bauminger et al., 2010; Constantino & Charman, 2012). This is partly explained by normative sex- differences in social and communication skills, with females showing a faster developmental pace and capacity in both domains (Beuker, 2023). As currently available autism-screening tools heavily focus on social and communication characteristics (Beuker, 2023), this poses further risk for misdiagnosis of females with autism. Here we hypothesise that 1) females with autism show different patterns of health care use in primary as well as specialised care compared to males 2) sex-differences in health care use are more pronounced for autism than for related neurodevelopmental disorders (such as ADHD, ID), 3) both male and female health care professionals demonstrate a sex-related bias during autism diagnosis and referral, and 4) the recognition and assessment of autism in children and adults can be improved by a novel sex-sensitive screening approach.