Background Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. Methods A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. Results Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20–1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58–11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36–2.88), eating disorders (OR 2.03, 95% CI 1.42–2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35–2.99). Conclusions Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome.

Williams syndrome (WS) is a rare genetic condition characterized by high social interest and approach motivation as well as intellectual disability and anxiety. Despite the fact that social stimuli are believed to have an increased intrinsic reward value in WS, it is not known whether this translates to learning and decision making. Genes homozygously deleted in WS are linked to sociability in the general population, making it a potential model condition for understanding the social brain. Probabilistic reinforcement learning was studied with either social or non-social rewards for correct choices. Social feedback improved learning in individuals with Williams syndrome but not in typically developing controls or individuals with other intellectual disabilities. Computational modeling indicated that these effects on social feedback were mediated by a shift towards higher weight given to rewards relative to punishments and increased choice consistency. We conclude that reward learning in WS is characterized by high volatility and a tendency to learn how to avoid punishment rather than how to gain rewards. Social feedback can partly normalize this pattern and promote adaptive reward learning.

Background: Turner syndrome is the result of a missing X chromosome, partially or completely, in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quote has previously been described as uneven but considered within normal range. Although a social, intellectual and psychiatric profile is described in females with Turner syndrome, it is unclear to what extent they meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. Methods: A retrospective case-control study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex matched controls from the general population. The association between Turner syndrome and diagnoses of neurodevelopmental and/ or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (Odds ratio, OR, 95% Confidence interval, CI) in females with Turner syndrome compared with matched controls. Results: Females with Turner syndrome had higher risk of any neurodevelopmental or psychiatric disorder (OR 1.37, 95% Cl 1.20-1.57), an eightfold (OR 8.59, 95% CI 6.58-11.20) increased risk of intellectual disability and a fourfold (OR 4.26, 95% CI 2.94-6.18) increased risk of autism spectrum disorder compared with the controls. In addition, females with Turner syndrome had an increased risk of a diagnosis of psychotic disorders (OR 1.98, 95% Cl 1.36-2.88), eating disorders (OR 2.03, 95% Cl 1.42-2.91) and behavioral disorders (OR 2.01, 95% CI 1.35-2.99). Conclusions: Females with TS have an increased risk of being diagnosed with any neurodevelopmental and psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early ages and increased psychiatric vigilance should be a part of lifelong healthcare for females with TS.

Objective: Major depressive disorder (MDD) is associated with impaired reward processing and reward learning. The literature is inconclusive regarding whether these impairments persist after remission. The current study examined reward processing during a probabilistic learning task in individuals in remission from MDD (n = 19) and never depressed healthy controls (n = 31) matched for age and sex. The outcome measures were pupil dilation (an indirect index of noradrenergic activity and arousal) and computational modeling parameters. Method: Participants completed two versions (facial/nonfacial feedback) of probabilistic reward learning task with changing contingencies. Pupil dilation was measured with a corneal reflection eye tracker. The hypotheses and analysis plan were preregistered. Result: Healthy controls had larger pupil dilation following losses than gains (p <.001), whereas no significant difference between outcomes was found in individuals with a history of MDD, resulting in an interaction between group and outcome (β = 0.81, SE = 0.34, t = 2.37, p = .018). The rMDD group also achieved lower mean score at the last trial (t[46.77] = 2.12, p = .040) as well as a smaller proportion of correct choices (t[46.70] = 2.09, p = .041) compared with healthy controls. Conclusion: Impaired reward processing may persist after remission from MDD and could constitute a latent risk factor for relapse. Measuring pupil dilation in a reward learning task is a promising method for identifying reward processing abnormalities linked to MDD. The task is simple and noninvasive, which makes it feasible for clinical research.