Tantrum Tamer: New Ways Parents Can Stop Bad Behavior
Title: Tantrum Tamer: New Ways Parents Can Stop Bad Behavior
Author: Shirley S. Wang
Date of Publication: November 8, 2011
Gambling Addiction Research
Article Title: Gambling Addiction Explained?
Author: Deborah Brauser
Date of Publication: October 30, 2012
Gambling Addiction research report from the 25th European College of Neuropsychopharmacology (ECNP) Congress.
Very interesting research on compulsive gambling. May have direct implications for some of the continued impulsive behavior activities sometimes seen with XXY and other SCA conditions. Also note the author’s comment at the end…he seems to feel cognitive behavior therapy and building other brain connectivity is the better treatment approach versus expecting drugs to “fix” things.
-Gary (Chair, AXYS Board of Directors)
VIENNA, Austria — Pathological gamblers may have abnormally increased reward expectancy, making them “overoptimistic with regard to gambling outcomes,” new research shows.
Investigators at the Amsterdam Institute for Addiction Research, in the Netherlands, used functional magnetic resonance imaging (fMRI) to assess brain activity in 15 participants with gambling problems and 16 without. They found that those with a gambling addiction had significantly more activation in the brain’s reward areas than those without.
“When the brain responds to a higher degree to potential rewards, it may trigger increased propensity to gamble,” coinvestigator Anna E. Goudriaan, PhD, told attendees here at the 25th European College of Neuropsychopharmacology (ECNP) Congress.
Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome
Article Title: Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome
Author: Matthew S. Wosnitzer et al
Date of Publication: January 18, 2013
47, XXY or Klinefelter syndrome (KS), the most common chromosomal aberration in males, is characterized by either absolute or relative hypogonadism with frequent decline in serum testosterone (T) following the onset of puberty. Decreased T levels are the result of testicular dysfunction with decrease in size of Leydig cells, and loss of germs and Sertoli cells leading to tubular hyalinization. Increase in estradiol results from over-expression of aromatase CYP19. Deficient androgen production and observed varied response of end-organs to T leads to delayed progression of puberty with decreased facial/body hair, poor muscle development, osteoporosis, and gynecomastia. It is possible that hypogonadism and excessive estradiol production contribute to emotional and social immaturity, and specific learning disabilities in KS. Based on the authors’ experience and literature review, early fertility preservation and hormonal supplementation may normalize pubertal development, prevent metabolic sequelae of hypogonadism, and have a positive effect on academic and social development. No randomized clinical trials are available studying the effects of T supplementation on reproductive or cognitive issues in KS. Aggressive T supplementation (topical gel) and selective use of aromatase inhibitors may be considered at the onset of puberty with careful follow-up and titration to reach age-specific high-normal physiologic serum values. The decision to institute hormonal therapy should be part of a multidisciplinary approach including physical, speech, behavioral, and occupational therapy.
‘Striking’ Impact of Bullying on Teens’ Mental, Physical Health
Article Title: ‘Striking’ Impact of Bullying on Teens’ Mental, Physical Health
Author: Deborah Brauser
Date of Publication: February 17, 2014
Long-term and current bullying can have serious consequences for adolescents’ physical and mental health, new research suggests.
Latest Testosterone Study Finds No Heart Attack Risk
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)
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome
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.”
Research Opportunities for Families
As a service to the X and Y variation community, AXYS is pleased to provide the following list of studies that individuals, parents or families may want to consider joining. All listed studies have been approved by their respective Institutional Review Boards (IRB), and a copy of that approval is on file with AXYS. The announcements and parties conducting and sponsoring the research meet guidelines established by AXYS regarding relevancy and appropriateness to X and Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, including those studies involving medications, and cannot be responsible for any outcomes, lack of outcomes or unintended side effects. If interested in participating in this research, please use the contact information in the announcement.
Name/Purpose of Study: Lipids to Energy, purpose is to learn more about how fat is used as a source of energy in males with 47,XXY / Klinefelter syndrome (KS) compared to typical males.
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Age Range: 15-30 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome with testosterone in the normal range, not taking fish oils or statins.
Travel required: Yes, participants must come to Colorado for three study visits.
Sponsoring Institution: University of Colorado
Principal Investigator(s): Shanlee Davis, MD, PhD
Link to a more detailed description: Study website
Primary funding source(s): NIH
Primary Contact: Mia Middleton, lte_xxy@ucdenver.edu
Date Posted: April 23, 2024
Name/Purpose of Study: Exploring the Transition From Pediatric to Adult Care in Patients with Klinefelter Syndrome
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 14-26 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome. Participants must be able to speak English.
Travel required: No. Study involves an online survey and an optional post-survey interview, also conducted remotely.
Sponsoring Institution: University of Colorado
Principal Investigator(s): Susan Howell, MBA, MS, CGC
Link to a more detailed description: Study flyer
Primary funding source(s): University of Colorado
Primary Contact: Aaron Holben, aaron.holben@cuanschutz.edu, 360-635-7001
Date Posted: December 7, 2023
Name/Purpose of Study: Perspectives of Individuals with X & Y variations on provider communication and prenatal genetic screening
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+ years
Other eligibility requirements: Diagnosis of any variations in the X or Y chromosome. Participants must be able to speak English.
Travel required: No. Study involves telephone or Zoom interview and online survey.
Sponsoring Institution: University of California San Francisco
Principal Investigator(s): Julie Harris-Wai, PhD, MPH (Julie.Harris-Wai@ucsf.edu)
Link to a more detailed description: Study flyer
Primary funding source(s): University of California San Francisco, Genetic Counseling Program
Primary Contact: Gabrielle Wright at gabrielle.wright@ucsf.edu
About the studyDate Posted: November 3, 2023
Name/Purpose of Study: The ASSERT: All StakeholderS Engaged in Research Together project seeks to engage people on the autism spectrum, with Down syndrome, or with other intellectual or developmental disabilities (IDD) along with caregivers, clinicians, and researchers. The goal is to build an online learning community where these stakeholders learn about research together in a way that is collaborative and multidirectional (all learners gain knowledge from each other).
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+
Other eligibility requirements: People ages 18 or older on the autism spectrum, with Down syndrome, or with IDD; caregivers (including adult siblings) of a person on the autism spectrum, with Down syndrome, or with IDD; clinicians who care for those on the autism spectrum, with Down syndrome, or with IDD; and researchers engaged in research focused on the autism spectrum, Down syndrome, or IDD. Must have internet access and a web-capable device.
Travel required: No
Sponsoring Institution: Vanderbilt University
Principal Investigator(s): Beth Malow, MD, MS
Link to a more detailed description: vkc.vumc.org/studyfinder/552 | Study Brochure
Primary funding source(s): Vanderbilt University
Primary Contact: assert@vumc.org
Date Posted: May 13, 2022
Name/Purpose of Study: The Relationship Between Anxiety and Quality of Life in Trisomy X
X and Y variations being studied: Trisomy X
Genders being studied: Female
Age Range: 18-30 years
Other eligibility requirements: Diagnosis of non-mosaic Trisomy X. Participants must have access to a computer or smart phone/tablet, an internet connection, and be able to speak English.
Travel required: No. Study involves participation in online/virtual focus group.
Sponsoring Institution: Emory University, Nell Hodgson Woodruff School of Nursing
Principal Investigator(s): Amy A. Blumling, PhD, CPNP-PC
Link to a more detailed description: Study flyer
Primary funding source(s): Emory University, Nell Hodgson Woodruff School of Nursing
Primary Contact: Amy A. Blumling, PhD, CPNP-PC at 412-551-1519 or ablumli@emory.edu
Date Posted: April 22, 2021
Name/Purpose of Study: Fatty Liver Research
X and Y variations being studied: All
Genders: All
Other eligibility requirements: Diagnosis of NAFLD or NASH
Travel required: MRE/other testing to be performed at Cedars-Sinai Liver Disease and Transplant Center
Sponsoring Institution: Cedars-Sinai
Principal Investigator(s): Dr. Mazen Noureddin
Primary funding source(s): Cedars-Sinai
Primary Contact: Bryan Gonzalez, bryan.gonzalez@cshs.org, 310-423-2473 or 310-967-7004
Date Posted: March 31, 2021
Name of Study: MyPaTH Story Booth
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+ years
Other eligibility requirements: Able to read and understand English
Travel required: No, interview by phone
Sponsoring Institution: Patient-Centered Outcomes Research Institute
Principal Investigator(s): Kathleen McTigue, MD, University of Pittsburgh, UPMC, PaTH CDRN
Link to a more detailed description: www.pathnetwork.org/research/MyPaTH_story_booth.html | Study Flyer
Primary funding source(s): Patient-Centered Outcomes Research Institute
Primary Contact: mystory@pitt.edu | 412-208-5241
Date Posted: February 19, 2020
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: Jonathan Blumenthal at jb364e@nih.gov or 301-435-4516
Date Posted: January 15, 2020
Name of Study: Brain, Behavior and Puberty in Klinefelter Syndrome
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: Male
Age Range: 8-17 years
Other eligibility requirements: None
Travel required: Yes
Sponsoring Institution: Stanford University and Nemours Children’s Health System
Principal Investigator(s): Allan L. Reiss, MD (Stanford) and Judith Ross, MD (Nemours)
Link to a more detailed description: med.stanford.edu/BGAPstudy
Primary funding source(s): NIH
Primary Contact: Stanford, BGAPstudy@stanford.edu, Karen Kowal (Nemours), karen.kowal@nemours.org or Gabriel Stefy (Nemours), Gabrielle.Stefy@Nemours.org
Date Posted: January 19, 2019 (updated June 3, 2020)
Stanford Study Flyer | Nemours Study Flyer
Name of Study: Learning and Brain Development in Boys with 47,XYY Syndrome, Idiopathic Autism, & Typically Developing Control Boys
X and Y variations being studied: XYY
Genders being studied: Males
Age Range: 6-17 years
Other eligibility requirements: Non-mosaic 47,XYY Syndrome
Travel required: Yes
Sponsoring Institution: Nemours DuPont Hospital for Children in Wilmington, DE or in Philadelphia, PA
Principal Investigator(s): Judith Ross, MD
Link to a more detailed description: Study Flyer
Primary funding source(s): NIH
Primary Contact: Dr. Judith Ross, JLRoss@nemours.org or 215-955-9008
Date Posted: October 10, 2018
Name of Study: The eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy
X and Y variations being studied: All variations
Genders being studied: All
Age Range: 6 weeks to 6 years, 2 months old at the time of enrollment
Other eligibility requirements: Children must have a prenatal diagnosis of XXY, XYY, XXX, XXYY, or other sex chromosome variations
Travel required: Yes. Study sites include Colorado, Delaware or Philadelphia. Travel budget included if needed. There are 4-8 total study visits over 2-4 years (depending on age at enrollment). Visits alternate between in-person and telehealth.
Sponsoring Institution: University of Colorado Denver, Nemours/Alfred I. DuPont Hospital for Children
Principal Investigator(s): Dr. Nicole Tartaglia; Co-Investigator: Dr. Judith Ross
Link to a more detailed description: Study Flyer
Primary funding source(s): National Institute of Child Health and Development
Primary Contact: Colorado area – extraordinarykids@ucdenver.edu or 720-808- 0873 | Delaware area – karen.kowal@nemours.org or 215-955-9008
Date Posted: March 2018
Prenatal Testing
Our Helpline (1‑267‑338‑4262 or helpline@genetic.org) volunteers and support parents give priority to providing information to expectant parents.
A non-invasive prenatal blood test (NIPT) on the mother only suggests a risk that the fetus has an extra X or Y chromosome. It is not a diagnosis. Follow up is needed.
Amniocentesis (a needle inserted into the uterus to draw out fluid-containing cells surrounding the fetus) and chorionic villus sampling (CVS, in which a small sample of the developing placenta is taken) can both show whether extra chromosomes are for certain present, and can serve as a definitive diagnosis.
After prenatal testing, it is always worthwhile to consult a genetic counselor. The National Society of Genetic Counselors have an online directory.
Watch this video on prenatal tests.
Children with X or Y variations are unlikely to have severe developmental disabilities. These genetic conditions tend to involve speech delay or learning disability, not profound delays that prevent independent living. Many families find that early intervention and special education services minimize the impact of the extra chromosome.
AXYS is pleased to provide you with the following letter written by a parent of a child with Klinefelter syndrome, but relevant to all parents of a child with an x or y variation:
I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy (SCA), one or more extra X and/or Y chromosomes. First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome… Read entire letter
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