October
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
September
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
August
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
May
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 impulsivity, communication difficulties, reduced social assertiveness and difficulties with ‘being sensitive and responsive to the feelings and rights of others.”
“Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome.”
Featured Video of the Month
Sophie van Rijn, PhD – The Cognitive and Behavioral Phenotype Of 47,XXY And 47,XXX
April
Recent advances in managing and understanding Klinefelter syndrome
Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.
Featured Video of the Month
Nicole Tartaglia, MD and Susan Howell, MS, CGC, MBA – Trisomy X Syndrome: An Overview
March
Delivering the Diagnosis of Sex Chromosome Aneuploidy
In the fall of 2018, AXYS worked with the authors of this survey/study to disseminate it as widely as possible throughout the worldwide X and Y variation community. Additionally, one of the authors, Megan Allyse, PhD, participated in both the AXYS family conference and in the AXYS Clinic & Research Consortium meetings. Her participation in these AXYS meetings added background and greater context to the development of the survey, ensuring that it addressed many of the overriding concerns and issues that the community has identified. AXYS is pleased to see that this article has been published and our board and staff will use it to help guide our ongoing efforts to improve knowledge about, and treatment for, all X and Y variations.
Featured Video of the Month
Susan Howell, MS, CGC, MBA – Disclosing the Diagnosis
February
Social Anxiety, Social Cognition and Testosterone
This month’s research paper is a new study released by Dr. Sophie van Rijn from Leiden University in the Netherlands. She continues to provide more insight into the relationships between an extra x chromosome and social anxiety and social cognition, as well as the potential impact of testosterone on both of those areas. These findings can lead to more research and possible treatment alternatives that could impact quality of life. The distinction between social cognition and social anxiety is important for parents and professionals to understand.
January
When It’s Not Just ADHD: Uncovering Comorbid Conditions
Research has shown that a high percentage of individuals with x and y chromosome variations often have one or more characteristics associated with ADHD. Other research has shown that a high percentage of ADHD individuals may also have secondary conditions that can benefit from treatment. These conditions would include depression, anxiety, learning disabilities, language disabilities, executive function difficulties and others. This month’s featured research article provides more information about these relationships and secondary conditions.