Mental health and neurodevelopment in children and adolescents with Turner syndrome

Abstract

Objectives: Turner syndrome (TS) is a rare sex chromosome aneuploidy, with an incidence of four in 10,000 new-born girls. TS is often associated with impaired social communication skills, but the extent to which these are attributable to Autism Spectrum Disorders (ASD) is uncertain. We made standardized assessments of the mental health and associated neurodevelopmental disorders in children and adolescents with TS and report on the prevalence of concurrent conditions. Methods: Our sample comprised 127 girls with TS, 5–19 years of age. We obtained reports of their mental health from a combination of diagnostic interview (the Development and Wellbeing Assessment (DAWBA)), from the Strengths and Difficulties Questionnaire (SDQ) and from the Social Responsiveness Scale (SRS-2). Sources of information included parents, teachers and self-reports. The prevalence of mental health disorders in this sample was compared with age/sex matched national English data from typical controls. Results: Most individuals with TS (83%) had experienced significant social communication difficulties and nearly one in four (23%) met diagnostic criteria for ASD on the DAWBA. One-third (34%) had at least one mental health or neurodevelopmental condition, and those girls with an ASD were at a greater risk of a co-occurring emotional disorder and/or attention deficit hyperactivity disorder (ADHD). Conclusion: Children and adolescents with TS are substantially more likely to meet criteria for ASD than their typically developing peers. Our finding has clinical implications for appropriate behavioural management from preschool through to adolescence.

Reduced effects of social feedback on learning in Turner syndrome

“…This suggests that reinforcement learning tasks may capture social cognitive challenges in Turner syndrome which are not readily assessed through self-reports. Interestingly, previous studies have suggested that self-ratings may underestimate social challenges in Turner syndrome 15 , 18 , 20 . As noted in the introduction, Turner syndrome is associated with executive function impairments 9 – 11 .…”

“…Turner syndrome is associated with reduced social skills, an increased risk of having few friendship relations 12 – 15 , and difficulties with emotion recognition in faces 21 , 22 . The current study was the first to examine the effects of social feedback on reinforcement learning in Turner syndrome.…”

“…Another complicating factor is that assessment methods for examining social skills often rely on self-report. Individuals with Turner syndrome tend to overestimate their social skills and self-report fewer social difficulties than reported by their parents or others 15 , 18 , 20 .…”

“…Previous studies have reported that individuals with Turner syndrome often experience difficulties in social relationships with peers and have fewer partners 12 – 15 . A phenotypic overlap with autism spectrum disorder (ASD) has been suggested, but the nature of this overlap remains insufficiently understood 15 . Challenges in social withdrawal are described, however, often with an accompanying desire for social interaction 13 , 16 – 19 .…”