Endocrine Abstracts

Background: The psychopathology of children and young people with Turner Syndrome (45,X; TS) has been well-documented. But these studies have never assessed neurodevelopmental disorders (NDD; autistic/attention-hyperactivity) alongside emotional and conduct disorders. The last extensive study of mental health assessed a narrow range of psychopathologies and excluded under 16s. This study aims to comprehensively examine mental health, NDD and social skills in TS from childhood to emerging adulthood.

Methods: Participants aged 4 to 25 were recruited through the UK Turner Syndrome Support Society and NHS clinics. Standardised assessments were administered to caregivers. (1) The Development and Wellbeing Assessment (DAWBA; n=100) is rated by clinicians to generate DSM-V diagnoses. It assesses anxiety, depression, conduct, autism spectrum disorders (ASD), attention deficit hyperactivity disorders (ADHD) and tic disorders, as well as eating, sleeping and feeding difficulties. It has been used in the English national surveys of child and adolescents mental health conducted in 1999, 2004 and 2017. (2) The Strengths and Difficulties Questionnaire (SDQ; n=124) measures emotional dysregulation, hyperactivity/inattention, conduct, peer relationship problems and prosocial ability. (3) The Social Responsiveness Scale-2 (SRS-2; n=117) measures autistic symptomatology. All assessments are widely used and well-validated.

Results: DAWBA analysis showed elevated rates of mental health disorder compared to female norms. Notably, 33% met criteria for at least one mental health diagnosis. 23% met criteria for ASD, 11% for anxiety disorders and 12% for ADHD. Mean SDQ total scores were raised compared to female norms (t₍₁₂₃₎=12.89, P<0.0001). Emotional dysregulation was positively correlated with age (r=0.23, P=0.01), whereas hyperactivity problems (r=−0.47, P<0.0001) and conduct problems (r=−0.2, P=0.025) were negatively correlated with age. Peer interaction problems were high compared to population norms (t₍₁₂₃₎=12.22, P<0.0001) and prosocial ability was slightly lower than females population norms (t₍₁₂₃₎=−6.56, P<0.0001). Mean total SRS-2 scores were in the moderately impaired range (M=65.5, SD=14.9). Autistic symptomatology was rated as severe in 27.4% of cases. Participants have 45.67 times the risk of having severe autistic symptomatology compared to female norms.

Conclusion: Girls with TS have higher rates of mental health disorders, NDD and social difficulties than general population females. 18% met criteria for a diagnosis of ASD and 27.4% had severe autistic symptomatology. Difficulties with hyperactivity/inattention and conduct resolve developmentally, however emotional problems increase. Implementing social skills training in adolescence and providing additional support at school to help with concentration/over-activity is recommended.