2019 AXYS Family Conference Email Communications Archive
On this page you will find an archive of prior email communications with important information regarding the 2019 AXYS Family Conference.
Important Conference Information
Conference Safety and Child Care Information
2019 AXYS Family Conference Poster Presentations
2019 AXYS Family Conference Poster Presentations
The effects of androgen treatment on hippocampus structure and its association with spatial memory task performance in boys with Klinefelter syndrome: Vanessa Alschuler
The Relationship of Physical Function and Psychosocial Health on Quality of Life in Patients with 48,XXYY: Amy Blumling
Health Concerns of Women with Trisomy X: Sharron Close
47,XXYY Voices of Patients and Caregivers: Sharron Close
Family Attitudes and Experiences Receiving the Diagnosis of an X & Y Chromosome Variation: Sharron Close
The NIMH Intramural Research Program Study of X and Y Chromosome Variations: Kathleen Wilson
Executive functioning of children and young adults with an additional X chromosome: David J. Marcus and Phebe Albert, Georgia State University, Children’s Healthcare of Atlanta
Early therapies, school supports, and educational outcomes for students with X & Y variations: Preliminary results from a national survey: Talia Thompson, Susan Howell, Nicole Tartaglia
Eosinophilic Esophagitis Diagnosis in Patients with Sex Chromosome Aneuploidies: Susan Howell, C. Buchanan, H. Miyazawa, G. Furuta, N. Nguyen, Shanlee Davis, Nicole Tartaglia
The eXtraordinarY Babies Study: Preliminary Profile of Neurodevelopmental Skills at the 6 and 12-month visits in infants with Sex Chromosome Trisomy Identified by NIPT: Tanea Tanda, Nicole Tartaglia, Susan Howell, Shanlee Davis, Lisa Cordeiro, Judith Ross, Jennifer Janusz, Talia Thompson, Mariah Brown, C. Harrison, Rebecca Wilson
Association of Motor Skills with Adaptive Functioning in Children with XXY and XXYY Syndromes: Syd Martin, Lisa Cordeiro, P. Richardson, Shanlee Davis, Nicole Tartaglia
Exploring Neuropsychological Skills and Emotion Recognition in Males with XXYY Syndrome: Sophie van Rijn, Nicole Tartaglia, Susan Howell, Lisa Cordeiro, Hillary Weinpahl
Exploring preliminary relationships with adaptive functioning in girls with Trisomy X: Lisa Cordeiro, Kristen Wigby, Kathleen Angkustsiri, Nicole Tartaglia
Characterizing the Anxiety Phenotype in Triple X Syndrome: Rebecca Wilson, Kristen Wigby, Nicole Tartaglia
Evidence for Diminished Ovarian Reserve in Youth with Trisomy X: Nicole Tartaglia, Shanlee Davis, S. Dovey, E. Byers
Effects of Testosterone on Executive Function in Adolescents with Klinefelter Syndrome: Nicole Tartaglia, C. Harrison, Jennifer Janusz, Lisa Cordeiro, Susan Howell, Tanea Tanda, L. Pyle, Richard Boada
Fatness and Fitness in Adolescent Males with Klinefelter Syndrome: Shanlee Davis, G. Coe, A. Herstic, Nicole Tartaglia, Philip Zeitler, K. Nadeau
A Short Course of Testosterone in Infants with 47,XXY Klinefelter Syndrome has Acute Effects on Body Composition: Shanlee Davis, R. Reynolds, Syd Martin, Susan Howell, N. Nokoff, Philip Zeitler, Nicole Tartaglia
Testicular Function in Boys with 47,XYY: Shanlee Davis, Karen Kowal, A. Tahsin, Judith Ross
Adult Specialty Clinics for Sex Chromosome Aneuploidy: A WITH Foundation Grant to AXYS to support development of two pilot models at AXYS Clinic & Research Consortium clinic sites: Ginnie Cover, Carol Meerschaert, Robert Miller, Susan Howell, Nicole Tartaglia, Sharron Close, Amy Talboy
Oxandrolone Treatment Results in Increased Risk of Gonadarche in Prepubertal Boys With KS (early testosterone use)
Article Title: Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome
Authors: Shanlee M. Davis, Najiba Lahlou, Matthew Cox-Martin, Karen Kowal, Philip S. Zeitler, and Judith L. Ross
Date of Publication: June 20, 2018
“Two years of Ox[androlone] treatment in prepubertal boys with KS results in an increased risk of early gonadarche, on average 2 years earlier than in [placebo]-treated boys. Ox did not affect serum concentrations of testicular hormones.”
Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder
Article Title: Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder
Authors: S. van Rijn, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, and H. Swaab
Date of Publication: 2014
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 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.”
Recent advances in managing and understanding Klinefelter syndrome
Article Title: Recent advances in managing and understanding Klinefelter syndrome
Authors: Priyanka Bearelly and Robert Oates
Date of Publication: January 28, 2019
“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.”
How AXYS accomplishes our mission: introducing the 2019 AXYS Committees
Much of the work AXYS does is handled by our committees. The AXYS Executive Committee:
Gary Glissman (Chair)
Larry Rakowski (Vice-chair)
Erin Frith (Secretary)
Myra Byrd (Past-chair)
serves as the main body responsible for fiscal oversight, governance and nominations. They meet monthly and email frequently. We’re grateful for their hard work and dedication that furthers our mission every day.
The AXYS Programs & Services Oversight Committee helps create, monitor, evaluate and prioritize AXYS programs and services designed to assist families and individuals impacted by X & Y variations, and the professionals who serve them. The committee ensures that our programs and services are comprehensive, family-friendly, address all variations and are sensitive to the needs and wants of individuals with a variation.
We thank:
Hannah Acevedo, chair of In-Person Support Group Sub-Committee
Ginnie Cover
Erin Frith, chair of Online Support Group Sub-Committee
Carrie Riby
for their work in this area.
The AXYS Research Oversight Committee apprises the full board of research related to X & Y variations, seeks out and/or recommends ways for AXYS to become involved in or support research, reviews and approves requests by researchers who wish to recruit for research and/or promote their research findings, and monitors the organization’s role in any research.
We thank:
Sheryl Kelly (committee chair)
Sharron Close
Gary Glissman
Susan Howell
Larry Rakowski
for their work in this area.
The AXYS Fundraising and Development Committee assists the AXYS Board and Executive Director in fundraising activities. The committee helps identify, recommend, plan, execute and monitor fundraising opportunities. This includes working with fellow board members, members of the support group network, major donors and the X & Y variation community at-large. The committees identify and recommends tools and techniques to help maximize fundraising results. The committee regularly apprises the board of opportunities, progress and challenges related to fundraising revenue.
Myra Byrd
Gail Decker
The board welcomes volunteers who wish to assist on these committees. We have opportunities of all sizes from a one-time task to ongoing planning. Send an email to our Executive Director and let her know how you can help. She will connect you with the committee leader that best matches your talents and the time you can offer.
AXYS Clinic and Research Consortium Spotlight: Children’s Hospital of Philadelphia
Klinefelter and All XY Variations Program at CHOP
In 2015, the AXYS Board of Directors created the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to organize, fund and expand a consortium that operates as independent clinics which collaborate with one another, share informational resources, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the SCA community.
One goal of AXYS is to ensure that all families impacted by X and Y chromosome variations have access to the best available evaluation and treatments. The ACRC is an important means of achieving that goal.
In 2018 the Klinefelter and All XY Variations Program at the Children’s Hospital of Philadelphia (CHOP) joined the ACRC. The clinic’s medical director is Maria G. Vogiatzi, MD, an attending physician in the Division of Endocrinology at CHOP. Her research includes many articles on SCAs including this article published last month: Endocrine aspects of Klinefelter syndrome. A co-author on this paper is Michelle McLoughlin, MSN, CRNP, CPNP-AC, a pediatric nurse practitioner in the Division of Endocrinology and Diabetes at CHOP. Michelle is well-known by many in the AXYS community who live in the Philadelphia region as she treats their children alongside Dr. Vogiatzi. Beth Keena, MS, LCGC and Dr. Zackai provide the genetic counseling for the team.
The CHOP program, established in 2016, follows approximately 80 families. They held their first Klinefelter Patient Family Support Group Symposium on March 9, 2019. AXYS greeted families at the registration desk and shared brochures and information on our 2019 Family Conference. This Saturday morning event offered families scientific and practical information on many aspects of Klinefelter Syndrome from endocrine concerns to behavior.
“We were very excited to see so many families coming to our first support group symposium,” said Dr. Vogiatzi. “We feel that there is a great need for educational and support programs and we expect to hold more events in the future.”
For more information on the program at CHOP contact Office Coordinator Meagan Snow-Bailey or Nurse Practitioner Michelle McLoughlin at 215-590-3174 or send an email to AdrenalPubertyCenter@email.chop.edu
You can learn more on their Website: www.chop.edu/conditions-diseases/klinefelter-syndrome.
Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY
Article Title: Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY
Authors: Nicole R Tartaglia, MD, Rebecca Wilson, PsyD, Judith S. Miller, PhD, Jessica Rafalko, Lisa Cordeiro, MS, Shanlee Davis, MD, David Hessl, PhD, and Judith Ross, MD
Date of Publication: April 2017
“The rate of ASD in children with SCA in this study was higher than expected compared to the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population based on the 2010 Centers for Disease Control (CDC) estimate of 1 in 42 males. ASD is an important consideration when evaluating social difficulties for children with SCA. Studies of males with SCA and Y-chromosome genes may provide insight into idiopathic ASD and male predominance in ASD.”
Financial Assistance Resources
Financial Assistance Resources
Financial assistance to attend the conference may be available through your own community networks and agencies. Many community services provide financial assistance to families who have children with disabilities. Check with your church or synagogue; respite services, your local United Way, Kiwanis, Rotary or Lions Club.
Some Medical Spending Accounts will cover registration. Medicaid home and community waiver programs may fund a parent’s conference fee. Check with your case manager.
Check these websites to search for funding. Each has different requirements and deadlines.