Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic 'at risk' models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1-8 years) was included at baseline of this longitudinal study.

The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study.

Background: About 1:650-1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex chromosome trisomy (SCT). This international cross-sectional study was designed to investigate gaze towards faces and affect recognition during early life of children with SCT, with the aim to find indicators for support and treatment.

Methods: A group of 101 children with SCT (aged 1-7 years old; M= 3.

Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD).

Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N = 105) and control children (N = 101).

Connecting the Dots between Schizotypal Symptoms and Social Anxiety in Youth with an Extra X Chromosome: A Mediating Role for Catastrophizing.

Youth with an extra X chromosome (47, XXY & 47, XXX) display higher levels of schizotypal symptoms and social anxiety as compared to typically developing youth. It is likely that the extra X chromosome group is at-risk for clinical levels of schizotypy and social anxiety. Hence, this study investigated how schizotypal and social anxiety symptoms are related and mechanisms that may explain their association in a group of 38 children and adolescents with an extra X chromosome and a comparison group of 109 typically developing peers (8-19 years).

Physiological Arousal and Emotion Regulation Strategies in Young Children with Autism Spectrum Disorders.

This study aimed to assess physiological arousal and behavioral regulation of emotion in the context of frustration in 29 children with Autism Spectrum Disorders (ASD) and 45 typically developing children (41-81 months). Heart rate was continuously measured and emotion strategies were coded, during a locked-box task. Results revealed increases in arousal followed by a decline during recovery, significant for both groups indicating that heart rate patterns between groups were identical.

Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility.

The XXY chromosomal pattern (Klinefelter syndrome, KS) has been associated with specific effects on physical, neurobiological, endocrinological and psychological development. This study was focused on the described risk for autism in KS, and the cognitive mechanisms that mediate this risk. Our aim was to assess whether autistic features in KS result from impairments in executive functioning, more specifically difficulties in cognitive flexibility.

Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI.

Klinefelter syndrome (KS) is a chromosomal condition (47, XXY) that may help us to unravel gene-brain behavior pathways to psychopathology. The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social information processing.

Psychophysiological markers of vulnerability to psychopathology in men with an extra X chromosome (XXY).

Studying genetically defined syndromes associated with increased risk for psychopathology may help in understanding neurodevelopmental mechanisms related to risk for psychopathology. Klinefelter syndrome (47,XXY) is one of the most common sex chromosomal aneuploidies (1 in 650 male births) and associated with increased vulnerability for psychopathology, including psychotic symptoms. Yet, it remains unknown whether this increased risk is associated with underlying psychophysiological mechanisms that are typically deficient in individuals with psychotic disorders.

Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles.

Aim: Studying Klinefelter syndrome (KS) (47,XXY) can reveal insights into mechanisms of neurodevelopment. Our aim was to identify factors that influence risk for psychopathology in this syndrome, with a focus on age-specific and cognitive-specific risk profiles.

Methods: A total of 73 subjects with KS (25 children and 48 adults) and 93 age-matched controls (53 children and 40 adults) participated in the study.

Neuroendocrine markers of high risk for psychosis: salivary testosterone in adolescent boys with prodromal symptoms.

Background: The peak in age of onset of psychotic disorders such as schizophrenia during puberty and early adulthood suggests a relationship between the expression of psychopathology and the changes in the brain and body that take place during this dynamic maturational period, including a dramatic increase in circulating oestrogens and androgens. This study examined levels of salivary testosterone and oestradiol in adolescents with prepsychotic, prodromal symptoms, as this may mediate risk for psychosis by having an impact on brain development.

Method: In 21 male adolescents with prodromal symptoms and 21 male non-clinical controls levels of testosterone and oestradiol were measured in saliva.

Affective dysfunctions in adolescents at risk for psychosis: emotion awareness and social functioning.

Studies of individuals at ultra high risk (UHR) for psychosis have revealed deviations in cognitive and neural development before the onset of psychosis. As affective impairments are among the core dysfunctions in psychotic disorders such as schizophrenia, this study assessed emotion processing and the relationship with social competence in adolescents at risk for psychosis. Thirty-four adolescents at UHR for psychosis and twenty-three non-clinical controls completed the Bermond-Vorst Alexithymia Questionnaire, a measure of emotion awareness.

Misattribution of facial expressions of emotion in adolescents at increased risk of psychosis: the role of inhibitory control.

Background: By studying behavior, cognitive abilities and brain functioning in adolescents at high risk for psychosis, we can gain an insight into the vulnerability markers or protective factors in the development of psychotic symptoms. Although many high-risk studies have focused on impairments in neurocognitive functions, such as memory and attention, very few studies have investigated problems in processing social cues such as facial expressions as a possible vulnerability marker for psychosis.

Method: Thirty-six adolescents at ultra-high risk (UHR) for psychosis and 21 non-clinical controls completed a face recognition test, a facial affect labeling test and an inhibitory control test.

Cognitive mechanisms underlying disorganization of thought in a genetic syndrome (47,XXY).

Because of the risk for development of psychopathology such as psychotic symptoms, it has been suggested that studying men with the XXY karyotype may help in the search for underlying cognitive, neural and genetic mechanisms. The aim of this study was to identify cognitive mechanisms that may contribute to disorganization of thought in XXY men. A group of 24 XXY men and two non-clinical control groups (N=20, N=18) participated in the study.

Effects of an extra X chromosome on language lateralization: an fMRI study with Klinefelter men (47,XXY).

De novo occurring genetic variations provide an opportunity to study the effects of genes on structure and function of the brain. The presence of an extra X chromosome in men (XXY karyotype) has been associated with language deficits. Recently, schizophrenia spectrum traits have been observed in XXY men, which is of interest as language deficits are prominent in schizophrenia.

Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome.

Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively.