Decoding the genetic landscape of autism: A comprehensive review

Table 2 The differences in autism symptomology and related factors between males and females

Aspect	Males with ASD	Females with ASD
Prevalence	Higher prevalence, male-to-female ratio 1.33:1 to 15.7:1	Lower prevalence
Behavioral manifestation	More externalizing behaviors (aggression, repetitive movements, hyperactivity)	More internalizing behaviors (anxiety, depression)
Cognitive impairments	Less pronounced cognitive impairments	More pronounced cognitive impairments, with a male-to-female ratio nearing 1:1 among those with severe intellectual disabilities
Diagnostic bias	More likely to be diagnosed due to overt behaviors	Less likely to be diagnosed unless severe impairment is present due to less disruptive behaviors
Genetic load	Lower genetic load	Higher genetic load in affected females and unaffected female relatives compared to males
Compensation and masking strategies	Less frequent use	More frequent use
Clinical criteria meeting	More likely to meet clinical criteria for ASD given the same genetic risk	Less likely to meet clinical criteria, may exhibit related issues such as anxiety
Sex chromosome influence	Y chromosome may pose a risk	The second X chromosome may offer protection, as indicated by higher ASD rates in Turner syndrome (XO) and 47, XYY syndrome
Hormonal influence	Differences in the vasopressinergic system, higher fetal testosterone levels associated with ASD traits	Potential protection from the second X chromosome, hormonal influences not as clearly defined
Camouflage strategies	Less frequent use	More frequent use to mask symptoms
Research and treatment	Focused mainly on males	Lack of hypothesis-driven treatment studies targeting females

This table highlights the key differences in the manifestation, diagnosis, and underlying biological mechanisms of autism spectrum disorder between males and females. Understanding these differences is essential for improving diagnostic criteria and developing gender-specific treatments. ASD: Autism spectrum disorder.