Abstract
Studies on the prevalence of autism spectrum disorders have shown gender disproportion. In recent years, there has been an increasing interest in this investigation area. There are two main research lines; the first is focused mostly on gender-related biological reasons that could account for low ASD prevalence in women (i.e., related to some protective factors related to hormones or the immune system, among others), and the second research line studies possible diagnostic biases. In the present study, a review of the latter line of research is made based on two main objectives: (a) analysis of possible biases in diagnostic tools and (b) other nonbiological ASD prevalence explained by gender differences. As a result of our theoretical review, we found that the articles reviewed showed contradictory results and possible diagnostic biases, not only in their design but also in their assessment standards. We concluded that specific or complementary diagnostic tools and procedures differentiated by gender should be developed in order to reduce these biases.
Highlights
Introduction and Future LinesChildren 2021, 8, Autism spectrum disorders (ASDs) are a complex set of neurodevelopmental disorders that are defined according to the DSM-5 (Diagnostic and Statistical Manual of MentalDisorders, fifth version) [1] by two groups of symptoms: (a) communication and socialinteraction deficits (CSIDs) and (b) the presence of restrictive and repetitive interests patterns, behaviors and activities (RRIBs)
When the study refers to the population of high-functioning ASD (HFASD) or Asperger’s syndrome (AS), the prevalence divided by gender varies significantly, reaching ratios of 9:1 or 10:1 [11,12]
Frazier et al [64] conducted a comprehensive study of 2418 participants recruited from “Simons Simplex Collection”: a core project and resource of the Simons Foundation Autism Research Initiative (SFARI), which aimed to establish a permanent repository of genetic samples from 2600 families, each with a child diagnosed with autism spectrum disorder and absence of ASD among parents and siblings
Summary
This diagnosis process is based on three main pillars [38]: (a) the child’s development history; (b) the symptomsobservation and (c) the clinical confirmation. Many studies confirmed that ASD diagnosis for women arises later than in men [41,42,43,44], similar to other neurodevelopmental disorders (e.g., ADHD (attention deficit and hyperactivity disorder)) [45,46] These data can be explained, in part, because in boys, symptoms are in general more disturbing with more externalizing behaviors. Symptoms are more aligned with internalizing behaviors These difficulties in women’s diagnoses lead to a greater vulnerability and are related to the lack of specific early ASD interventions [13] or with erroneous diagnosis. This under-diagnosis is increased when it comes to ASDHP or AS [12,41,47]
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