Autism Spectrum Disorders in Girls and Women with Turner Syndrome
Turner Syndrome (45,X; TS) is one of the most common sex chromosome aneuploidies. It is associated with physical morbidities affecting nearly every body system, but the research into the psychological wellbeing of girls with TS is scarce and seldom systematic. 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 autism spectrum disorders in girls and women with TS using structured psychiatric assessments and examine the profile of the social skills deficit.
Participants (N=70) 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 4-20. To date a structured psychiatric interview called the Development and Wellbeing Assessment (DAWBA) has been completed by 58 families and the Social Responsiveness Scale (SRS) has been completed by 40 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.
21% of the girls with TS met criteria for a diagnosis of an ASD, which is substantially higher than the UK national rates of ASD in females (0.3%). Of these, on the total SRS standardised score 29% of participants scored within the ‘moderate’ range and 71% scored in the ‘severe’ range. When looking at the SRS subscales, participants meeting criteria for diagnosis scored in the ‘severe’ range for all subscales.
Of the girls that did not meet criteria for a clinical diagnosis of ASD, on the SRS standardised total score 18% scored in the ‘normal range’, 21% scored in the ‘mild’ range, 55% scored in the ‘moderate’ range and 6% scored in the ‘severe’ range. When looking at the SRS subscales, all participants that did not meet clinical criteria scored in the ‘moderate’ range for the communication as well as the restrictive interests and repetitive behaviours subscales. However, they scored in the ‘mild’ range for the awareness, cognition and motivation subscales.
Overall, regardless of clinical diagnosis girls with TS were the least impaired in the social motivation subscale on the SRS, where they obtained their lowest subscale scores.
TS is associated with higher rates of autism compared to the UK national population. Substantial sub-diagnostic social skills difficulties were identified in the girls and women with TS who did not meet criteria for a diagnosis of an ASD, specifically in domains of social communication, as well as restrictive interests and repetitive behaviours. These difficulties warrant further research as they are likely to have a significant impact on everyday social interactions. Overall, girls with TS were the least impaired in the social motivation domain of the SRS, which may be indicative of a desire for social interactions and suggests that delivering social skills interventions may be appropriate for this group.