Featured Research Papers by Month


Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

This paper is from ACRC member and AXYS Family Conference presenter Dr. Sophie van Rijn. While only 26 men participated in this study and the results are from a self-reported questionnaire, this paper shines a light on issues commonly faced by adults with 47,XXY.

The aim of this study was to evaluate if language and executive functioning deficits in individuals with 47,XXY contribute to emotion regulation problems.

Results: Atypical emotion regulation strategies were found in the XXY group, with increased expression of emotions (69%), avoiding (65%), distraction seeking (54%), and passive coping (54%). More difficulties in mental flexibility and attention regulation, and speeded responding were associated with more pronounced emotion expression (emotional outbursts). Emotion regulation problems were associated with symptoms of anxiety, depression, thought problems, and hostility.

Conclusion: This study has identified emotion regulation as a potential target for treatment and intervention, with a specific focus on executive functions in the management of emotions in individuals with 47,XXY.

Featured Video of the Month

Sophie van Rijn, PhD – Environmental Factors and Individuals with an Extra X Chromosome


Autism and social anxiety in children with sex chromosome trisomies: an observational study

This paper is from an observational study in the UK. They sought to learn more about the connection between having an extra sex chromosome and autism and social anxiety. They found an increased risk of autism and symptoms of social anxiety in children with 47,XXX, 47,XXY and 47,XYY.

Featured Video of the Month

Pete Wright – IEP and 504 Plans for Students with X and Y Variations


A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY)

Dr Sophie van Rijn, one of our 2019 Family Conference speakers, wrote this excellent opinion paper “A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY).”

This paper reviews studies that illustrate an increased risk for social, emotional and behavioral problems in individuals with 47,XXY, 47,XXX, or 47,XYY. The primary focus of research in this area has been on language and learning problems; more recent research suggests that impairments in executive functioning, social cognition and emotion regulation may also be key factors underlying the risk for behavioral problems and mental disorders. Directions for future research are provided.

Featured Video of the Month

Sophie van Rijn, PhD – Research Aims: TRIXY National Center of Expertise


Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

This 2014 paper by Dr. Sophie van Rijn is an excellent study on the Theory of Mind and “the reported social behavioral difficulties in individuals with an extra X chromosome” that “include shyness, social withdrawal, social anxiety, social immaturity, difficulties in peer relationships, social […]