RESUMO
Williams syndrome (WS) is associated with atypical social communication and cognition reminiscent of the behaviours observed in autism. Nonetheless, WS also differs significantly from autism, such as regarding social motivation, which is typically enhanced in WS and reduced in autism. This study sought to examine the conditions' transdiagnostic similarities and differences for autistic symptoms and social functioning, and their developmental trajectories, by comparing individuals with WS (n = 24) and those diagnosed with idiopathic autism (n = 24) and attention deficit hyperactivity disorder (ADHD; n = 24), aged 9 to 53 years, on measures of autism, social functioning, IQ and cooccurring psychiatric conditions. Although only 12.5% in the WS group met the criteria for an autism diagnosis, a majority exhibited distinct difficulties within social communication, social cognition, repetitive behaviours, and atypical sensory reactivity resembling autism. Conversely, elevated social motivation and a high number of social initiatives accompany these characteristics. No group differences in the developmental trajectories of autism symptoms were found. Our results demonstrate that autistic behaviours are more frequent in individuals with WS, than in individuals with idiopathic ADHD, and emphasize the need for clinical management of these behaviours.
Assuntos
Transtorno Autístico , Síndrome de Williams , Humanos , Síndrome de Williams/diagnóstico , Síndrome de Williams/fisiopatologia , Adolescente , Masculino , Feminino , Criança , Transtorno Autístico/psicologia , Transtorno Autístico/diagnóstico , Adulto , Adulto Jovem , Pessoa de Meia-Idade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Comportamento SocialRESUMO
Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain largely unexplored. A possible mechanism is a reduced social influence on learning. The current study examined the impact of social and non-social feedback on learning in women with Turner syndrome (n = 35) and a sex- and age-matched control group (n = 37). Participants were instructed to earn points by repeatedly choosing between two stimuli with unequal probabilities of resulting in a reward. Mastering the task therefore required participants to learn through feedback which of the two stimuli was more likely to be rewarded. Data were analyzed using computational modeling and analyses of choice behavior. Social feedback led to a more explorative choice behavior in the control group, resulting in reduced learning compared to non-social feedback. No effects of social feedback on learning were found in Turner syndrome. The current study thus indicates that women with Turner syndrome may be less sensitive to social influences on reinforcement learning, than the general population.
Assuntos
Síndrome de Turner , Humanos , Feminino , Retroalimentação , Aprendizagem , Cromossomo X , Reforço PsicológicoRESUMO
INTRODUCTION: The behavioural phenotype in Turner syndrome (TS) is associated with an uneven cognitive profile and social and executive difficulties. Still, studies in adult populations of TS are scarce, and the interactions between different behavioural domains are unclear. The aim of this study was to examine the cognitive profile in relation to measures of ADHD and ASD in a Swedish sample of 30 adult women with TS. METHODS: Standardized psychological tests and questionnaires were used for behavioural assessments in a sample of adult women with a diagnosis of TS (n = 30). Both frequentist and Bayesian statistics were applied. RESULTS: The cognitive profile was characterized by a verbal > non-verbal intelligence quotient (IQ) split, and 77% of the sample displayed a split exceeding cut-off for clinical significance. Symptoms on screening measures reaching thresholds for ADHD were reported in two of the 30 participants (7%) and thresholds for autism spectrum disorders (ASD) in one participant (3%). Bayesian statistics gave substantial evidence for no association between the IQ split and symptoms of ADHD/ASD. CONCLUSIONS: These results show that the TS phenotype in adulthood is associated with a clinically significant uneven cognitive profile, and particular impairments in integrative executive functions.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Síndrome de Turner , Humanos , Feminino , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Teorema de Bayes , Síndrome de Turner/complicações , Transtorno do Espectro Autista/psicologia , CogniçãoRESUMO
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.
Assuntos
Síndrome de Williams , Humanos , Retroalimentação , Aprendizagem , Reforço Psicológico , RecompensaRESUMO
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 (ß = 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.
Assuntos
Transtorno Depressivo Maior , Adulto , Humanos , Transtorno Depressivo Maior/diagnóstico por imagem , Aprendizagem , Recompensa , Estudos de Casos e ControlesRESUMO
Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically developing comparison participants (n = 167) in stratified age groups from infancy to adulthood. Typically developing children and adults were quicker and more likely to orient to eyes than the mouth. This bias was absent in WS. The WS group had reduced peak saccadic velocities, indicating hypo-arousal. The current study indicates reduced orienting to others' eyes in WS, which may affect social interaction skills.
Assuntos
Transtorno do Espectro Autista , Síndrome de Williams , Humanos , Síndrome de Williams/psicologia , FenótipoRESUMO
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 2.946.18) 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.
Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Síndrome de Turner , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Feminino , Humanos , Estudos Retrospectivos , Suécia/epidemiologia , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologiaRESUMO
Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients.