A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Winter, 2023 | Number 1, Volume 37

Rate of autism spectrum disorders is high in girls with Turner syndrome

Girls with Turner syndrome have a high rate of autism spectrum disorders (ASD), according to a new study. 

Turner syndrome occurs when females have only one X chromosome, or when the second X chromosome is partial or abnormal. The syndrome causes a wide range of signs and symptoms including short stature, heart and kidney defects, vision and hearing problems, ovarian failure, and dysmorphic features. While it is well established that many females with Turner syndrome experience difficulties with socialization, this has often been attributed solely to their physical difficulties.

In the new study, Jeanne Wolstencroft and colleagues evaluated 127 girls with Turner syndrome, all between five and 19 years of age, using multiple assessments involving parent and teacher reports and self-reports. The researchers report that 83 percent of the children had experienced significant social communication difficulties, and 61 percent had mild to moderate autistic traits that affected their social interactions; in addition, 23 percent met diagnostic criteria for ASD. “This is equivalent to a 57- fold relative risk of meeting criteria for an ASD in Turner syndrome compared to typically developing girls,” they say, adding that “there is undoubtedly a strong association between Turner syndrome and risk of ASD, despite earlier claims to the contrary.” 

The researchers add that 34 percent of the girls they evaluated had at least one mental health or neurodevelopmental condition, and that those with ASD were at greater risk of having a co-occurring emotional disorder and/or attention deficit hyperactivity disorder (ADHD). 

They conclude, “Clinicians managing the care of children with Turner syndrome should consider referrals for ASD assessment, in order to facilitate the implementation of social skills support, as [this has] been shown to be effective in young women with Turner syndrome.”


“Mental health and neurodevelopment in children and adolescents with Turner syndrome,” Jeanne Wolstencroft, William Mandy, and David Skuse, Women’s Health, December 2022 (free online). Address: Jeanne Wolstencroft, The Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N IEH, UK, [email protected]

—see also— 

“Turner syndrome tied to autism,” Emmet Fraizer, Spectrum News, January 5, 2023.