Article Title: Video Game ‘Addiction’ More Likely With Autism, ADHD
Author: Serena Gordon
Date of Publication: July 29, 2013
“Study cites poor peer relationships as one reason these kids embrace gaming.
Boys with autism or attention-deficit/hyperactivity disorder are more at risk of addictive video game use than typically developing boys, according to new research.”
Article Title: The Sexual Politics of Autism
Author: Virginia Hughes
Date of Publication: July 14, 2014
“Imagine you walked down the street and asked random people what autism is. What would they say? My guess: They’d talk about social skills, and the rising prevalence, and probably the vaccine nonsense. And they’d almost certainly mention that it happens to boys.
The idea that autism is a mostly male disorder is pervasive in the news, pop culture, and scientific circles. And it’s not just an academic curiosity. Last year a popular fertility clinic in Sydney, Australia, reported that about five percent of couples went through in vitro fertilization just so they could select a female embryo and thus lower the kid’s risk of developing autism.
The sex skew in autism is real: A diagnosis of autism is almost five times more common in 8-year-old boys than in 8-year-old girls, according to the latest statistics from the CDC.”
Article Title: Latest Testosterone Study Finds No Heart Attack Risk
Author: Nancy A. Melville
Date of Publication: July 3, 2014
“In the latest addition to the ongoing debate over the safety of testosterone treatment, researchers report no significant increased heart attack risk in older men treated with an intramuscular form of the therapy.
The study, published online this week in the Annals of Pharmacotherapy, compared 6,355 Medicare beneficiaries treated with testosterone with 19,065 who were not, between January 1997 and December 2005, and showed no increased risk of myocardial infarction (MI) in the treatment group (hazard ratio [HR], 0.84; 95% confidence interval [CI], 0.69 – 1.02).”
Read more (requires free Medscape registration)
Article Title: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile
Authors: A. Skakkebæk, C.H. Gravholt, P.M. Rasmussen, A. Bojesen, J.S. Jensen, J. Fedder, P. Laurberg, J.M. Hertz, J.R. Ostergaard, A.D. Pedersen, M. Wallentin
Date of Publication: October 29, 2013
“Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The results show that although gene dosage effect of having an extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities. No simple correspondence links these measures.”
Article Title: Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders
Authors: L.E. DeLisi, A.M. Maurizio, C. Svetina, B. Ardekani, K. Szulc, J. Nierenberg, J. Leonard, P.D. Harvey
Date of Publication: May 5, 2005
“Males with an extra-X chromosome (Klinefelter’s syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders.”
Article Title: Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome
Authors: Carole A. Samango‐Sprouse, Andrea L Gropman, Teresa Sadeghin, Madison Kingery, Margaret Lutz‐Armstrong, Alan D. Rogol
Date of Publication: March 1, 2011
“The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY.
Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.”
Article Title: IEP and Lesson Plan Development Handbook of Specially Designed Instruction and Supplementary Aids and Services
Authors: Kentucky Special Education Cooperatives and Kentucky Department of Education
Date of Publication: August 2003
“In designing an Individual Education Program (IEP) for a student, the ARC must determine specific instructional strategies that teachers must use and the supplementary aids and services that the student needs in order for the student to have access to the Program of Studies (i.e., the general program).
This handbook is one resource that provides some examples of Specially Designed Instruction (SDI) and Supplementary Aids and Services (SAS) that might be used to support the student’s goals, benchmarks, and objectives on his/her IEP.”
Article Title: Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility
Authors: Sophie van Rijn, Marit Bierman, Hilgo Bruining, Hanna Swaab
Date of Publication: August 11, 2012
“Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions.”
Article Title: Unique – XYY
Authors: Unique – Rare Chromosome Disorder Support Group
Date of Publication: 2006
“Approximately 1 boy in 1000 has XYY chromosomes. In the cells of their body, instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all. The impact of the extra Y chromosome is extremely variable. The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that lead to a diagnosis. Only a small fraction of boys and men with XYY are ever diagnosed: recent estimates suggest 2.5% in the United Kingdom and 20% in Denmark.
AXYS is pleased to provide the following list of studies that our community members may consider joining. All listed studies have been approved by an Institutional Review Board (IRB) and meet guidelines established by AXYS regarding relevancy to X&Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, and cannot be responsible for any outcomes or unintended side effects. If interested in participating, please use the contact information in the listing.
Name/Purpose of Study: TREAT-KS: An Evaluation of a Testosterone Replacement Therapy Patient Education Material for Adolescents and Young Adults with Klinefelter Syndrome
X and Y variations being studied: 47,XXY
Genders being studied: All
Age Range: 14-25 years
Other eligibility requirements: Individuals with mosaic KS (46,XY/47,XYY) are eligible but higher order X aneuploidies (i.e., 48,XXXY and 49,XXXXY) are not. Individuals must be able to read English.
Travel required: No
Sponsoring Institution: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University
Principal Investigator(s): Allison Weisman, MS, CGC
Link to a more detailed description: https://redcap.luriechildrens.org/surveys/?s=YLMNN8EYAJCWWEPK
Primary funding source(s): Northwestern University Graduate Program in Genetic Counseling
Primary Contact: Sofia Marrufo, sofia.marrufo@northwestern.edu
Date Posted: May 15, 2025
Name/Purpose of Study: GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations
X and Y variations being studied: All
Genders being studied: All
Age Range: All
Other eligibility requirements: Genetic test results confirming X&Y variation
Travel required: No
Sponsoring Institution: University of Colorado
Principal Investigator(s): Shanlee Davis, MD, PhD
Link to a more detailed description: www.galaxyregistry.org
Primary funding source(s): AXYS, Living with XXY, University of Colorado
Primary Contact: galaxy@ucdenver.edu
Date Posted: May 8, 2025
Name/Purpose of Study: The Voices Study: Learning from youth about their care needs and priorities
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 11-21 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome, must be able to understand basic sentences and questions in English, access to a web-capable device, access to an internet connection
Travel required: No
Sponsoring Institution: Children’s National Hospital
Principal Investigator(s):
Link to a more detailed description: Study flyer
Primary funding source(s): National Institutes of Health (NIH)
Primary Contact: Alejandro Todd, datodd@childrensnational.org, 301-765-5573
Date Posted: November 12, 2024
Name of Study: National Institutes of Health (NIH) Behavioral, Cognitive, and Brain Imaging Study for Girls and Young Women with Trisomy X (2 day study)
X and Y variations being studied: Trisomy X
Genders being studied: Female
Age Range: 5 to 25 years
Other eligibility requirements:
Travel required: Yes. 2 day study near Washington, DC. Flights and lodging are provided, along with a meal allowance and participant payment.
Sponsoring Institution: National Institutes of Health (NIH)
Principal Investigator(s): Dr. Armin Raznahan
Link to a more detailed description: Children w/ X & Y Chromosome Variations | Adults w/ X & Y Chromosome Variations | Study Flyer
Primary funding source(s): National Institutes of Health Intramural Research Program
Primary Contact: Bobby Das at dasb@mail.nih.gov or 301-435-4516
Date Posted: January 15, 2020
