Background Turner Syndrome (45,X; TS) is one of the most common sex chromosome aneuploidies. The physical morbidities in TS are well documented, but the research into the psychological wellbeing of girls with TS is scarce. Girls with TS experience social skills difficulties but the previously reported association between TS and Autism Spectrum Disorders (ASD) is controversial.

This study aims to determine the prevalence of ASD in girls and women with TS using structured psychiatric assessments and examine the profile of the autistic symptomatology.

Methods Participants (n=98) were recruited through the IMAGINE ID (national UK study of behavioural adjustment) and SOAR (Social skills and relationships in Turner Syndrome) research studies. Assessments were administered online to the caregivers of girls and women with TS aged 4–25. A structured psychiatric interview called the Development and Wellbeing Assessment (DAWBA) was completed by 73 families and the Social Responsiveness Scale (SRS) was completed by 70 families. The DAWBA responses are reviewed by a psychiatrist to generate clinical diagnoses and the SRS measures autistic traits. Both instruments are widely used and validated.

Results 21% of the girls with TS met criteria for a diagnosis of an ASD. On the SRS standardised total score 14% scored in the ‘normal range’, 24% scored in the ‘mild’ range, 49% scored in the ‘moderate’ range and 13% scored in the ‘severe’ range. This suggests that 86% of participants experience difficulties with social interaction, which are likely to interfere with their everyday functioning.

Conclusion The rates of autism in TS are substantially higher than the UK national rates of ASD in females (0.3%). The majority of participants are likely to experience difficulties with social interaction. Taken together this supports an association between TS and ASD.