A5076077348- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Williams Syndrome Research
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Neurotransmitter Receptor Influence on Behavior
- Congenital heart defects research
- Firm Innovation and Growth
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Evolutionary Psychology and Human Behavior
- Gender Studies in Language
- Animal Behavior and Reproduction
- Treatment of Major Depression
Karolinska Institutet
2017-2024
Stockholm Health Care Services
2021-2024
Abstract Turner syndrome (TS) affects 50 per 100 000 females. TS multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics genetics, estrogen treatment, fertility, co-morbidities, neurocognition neuropsychology. Exploratory meetings were held in 2021 Europe United States culminating with a consensus meeting Aarhus, Denmark June 2023. Prior to this, eight groups addressed areas...
Abstract Background Turner syndrome is the result of partial or complete absence an X chromosome in phenotypic girls. This can cause array medical and developmental difficulties. The intelligence quotient females with has previously been described as uneven, but considered within normal range. Although their social, intellectual, psychiatric profile described, it unclear to what extent these meet clinical criteria for neurodevelopmental diagnoses. aim this study was examine prevalence...
Abstract Williams syndrome (WS) is a rare genetic condition characterized by high social interest and approach motivation as well intellectual disability anxiety. Despite the fact that stimuli are believed to have an increased intrinsic reward value in WS, it not known whether this translates learning decision making. Genes homozygously deleted WS linked sociability general population, making potential model for understanding brain. Probabilistic reinforcement was studied with either or...
Introduction The behavioural phenotype in Turner syndrome (TS) is associated with an uneven cognitive profile and social executive difficulties. Still, studies adult populations of TS are scarce, the interactions between different domains unclear. aim this study was to examine relation measures ADHD ASD a Swedish sample 30 women TS.Methods Standardized psychological tests questionnaires were used for assessments diagnosis (n = 30). Both frequentist Bayesian statistics applied.Results...
Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes crucial for understanding. Orienting to, from other's was studied in WS (n = 37, mean age 23, range 9-53). The group compared typically developing comparison participants 167) stratified groups infancy adulthood. Typically children adults were quicker more likely orient than the mouth. This bias absent WS. had reduced peak...
Abstract Objective: Major depressive disorder (MDD) is associated with impaired reward processing and learning. The literature inconclusive regarding whether these impairments persist after remission. current study examined during a probabilistic learning task in individuals remission from MDD ( n = 19) never depressed healthy controls 31) matched for age sex. outcome measures were pupil dilation (an indirect index of noradrenergic activity arousal) computational modeling parameters. Method:...
Individuals with Williams syndrome (WS) have an elevated risk for anxiety disorders throughout the life span, making it a research priority to identify individual factors associated anxiety. Most of existing literature is based on questionnaire data and suggests that impaired executive functions (EF) increase in WS. The aim this study was use direct measures by trained clinicians investigate effects general intelligence, inhibition, sustained attention, working memory WS, further elucidate...
Abstract Background: Turner syndrome is the result of a missing X chromosome, partially or completely, in phenotypic girls. This can cause an array medical and developmental difficulties. The intelligence quote has previously been described as uneven but considered within normal range. Although social, intellectual psychiatric profile females with syndrome, it unclear to what extent they meet clinical criteria for neurodevelopmental diagnoses. aim this study was examine prevalence disorders...
Abstract 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 motivation, which typically enhanced reduced This study sought to examine conditions’ transdiagnostic similarities differences for autistic symptoms functioning, their developmental trajectories, by comparing individuals (n = 24) those diagnosed idiopathic autism attention...
Williams syndrome (WS) is a rare genetic disorder which leads to high social motivation as well intellectual disability and difficulties with interaction. Attention others’ eyes crucial for understanding. Individuals WS are typically highly attentive faces, but there lack of knowledge about how they attend other’s eyes, the mechanisms underlying potential alterations in behavior. It has been suggested that physiological hypo-arousal enables individuals maintain their gaze longer at faces....
Turner syndrome is a genetic condition caused by complete or partial loss of one the X chromosomes. Previous studies indicate that associated with challenges in social skills, but underlying mechanisms remain largely unexplored. A possible mechanism reduced influence on learning. The current study examined impact and non-social feedback learning women (n = 35) sex- age-matched control group 37). Participants were instructed to earn points repeatedly choosing between two stimuli unequal...