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.

Rick Frith2024-06-26T14:09:16-04:00Categories: All Variations|Tags: AXYS News|

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.

Rick Frith2019-03-23T16:58:19-04:00Categories: All Variations|Tags: ACRC, AXYS News|

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 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.

ARC of the United States
Autism Society
Disability Info
Easter Seals
Family Voices
State Councils on Developmental Disabilities
Parent-To-Parent
United Cerebral Palsy

Rick Frith2025-01-14T12:00:19-05:00

2019 AXYS Family Conference T-Shirts

2019 AXYS Family Conference T-Shirt T-shirts are white Hanes Tagless tees with the conference logo. T-shirt sizes Youth Extra Small to Adult XL are $10 each. T-shirt sizes Adult 2XL to 3XL are $12 each.

T-shirts will be delivered to the conference and you will be able to pick them up during check-in.

Orders are now closed for t-shirts.

If you have any questions please email Gail Decker.

Rick Frith2019-06-02T17:47:34-04:00

Past Conferences

AXYS Conferences

1994 Orange County, CA (KS&A)

1995 Chevy Chase, MD (KS&A)

1996 Seattle, WA (KS&A)

1997 Skokie, IL (KS&A)

1998 Torrance, CA (KS&A)

1999 Baltimore, MD (KS&A)

2000 Sacramento, CA (KS&A) Skokie/Chicago, IL (AAKSIS)

2001 Philadelphia, PA (AAKSIS)

2002 Columbus, OH (KS&A)

2003 Cleveland, OH (KS&A) Chicago, IL (AAKSIS)

2004 Kansas City, MO (KS&A) Long Island, NY (AAKSIS)

2005 Boulder City, NV (KS&A) Atlanta, GA (AAKSIS)

2006 Philadelphia, PA (KS&A) St. Louis, MO (AAKSIS)

2007 Chicago, IL (AAKSIS)

2008 Denver, CO (KS&A) Minneapolis, MN (AAKSIS)

2009 Los Angeles, CA (KS&A)

2010 Cincinnati, OH (KS&A)

2011 Denver, CO (KS&A)

2012 Denver, CO (KS&A)

2013 Denver, CO (KS&A)

2015 Baltimore, MD (AXYS)

2017 Denver, CO (AXYS)

2019 Atlanta, GA (AXYS)

2021 Virtual (AXYS)

2023 Virtual (AXYS)

2025 Atlanta, GA (AXYS)

XXYY Project Conferences

2003 Northampton, MA

2004 Denver, CO

2005 Sacramento, CA

2006 Atlanta, GA

2007 Buffalo, NY

2008 Denver, CO

2009 Los Angeles, CA

2010 Denver, CO

2011 Boston, MA

2012 Denver, CO

2013 Vancouver, Canada

2014 Denver, CO

2015 Merged with AXYS

Rick Frith2025-10-13T14:43:34-04:00

Sponsorship Opportunities

The AXYS Family Conference brings children and adults with X and Y chromosome variations, their families and caregivers together with advocates, community organizations, parent group leaders, clinical and research professionals including genetic counselors, geneticists, and endocrinologists.

AXYS, a 501(c)(3) non-profit, is pleased to offer sponsorship opportunities to fit every budget. Your support allows us to keep this conference affordable for families who gain valuable support from being with others with their condition. Your sponsorship also supports the participation of leading researchers and clinicians working in this area so families can learn directly from them.

Don’t hesitate to reach out to any board member for more information or contact our Executive Director Carol Meerschaert.

Please download this prospectus to learn about our sponsorship opportunities.

2021 AXYS Virtual Conference Sponsorship Prospectus

Rick Frith2021-02-24T13:24:37-05:00

Children and Childcare

AXYS strives to create a family-friendly conference. Therefore, the registration fee for children under age 13 includes a professionally staffed child care center to give parents the opportunity to fully enjoy the speakers. Please be sure to note in your registration the number of children in your family who need childcare and their ages.

We warmly welcome older children and teens at our conference. We’ve contracted for 3 sessions in the Wisteria Lanes bowling center at the hotel and will have the Silverbell Pavilion set up with games for the enjoyment of older children and adults. While these areas will be staffed with volunteers, parents are responsible for their children at all times.

Child Care Hours
Saturday June 29, 2019	8:00 am to 5:30 pm
Sunday June 30, 2019	8:00 am to 3:00 pm

Activities

Developmentally appropriate activities will be provided by TLC Sitters including DVDs, toys, games, craft and art supplies.
Parents/guardians must label all clothes and toys brought to the childcare room with the child’s name. No valuable items can be left with the child in the childcare facility.

Food and beverages

AXYS will provide water and light snacks.
Please have your children eat breakfast prior to arriving in the center for the day. Children will eat lunch with their parent/guardian and must be signed out to do so.

Contact information

Parents must provide a cell phone number where they can be reached at any time while the child is in the childcare room. Parents must be available at any time to collect their child in the childcare room in case any problem occurs while their child is being cared for.
Parents or persons authorized by the parents to check child(ren) in and out need to bring their government issued photo ID, such as a driver’s license, state-issued ID, passport, or military ID.

Additional information

The childcare services will not administer any prescription medicine to the children. Parents/guardians must return to the childcare facility to dispense any medicine to their child.
For the health of other children in care, sick children will not be allowed into the childcare facility.
Parents need to provide a sufficient number of diapers/pull-ups needed for the time in care to support proper hygiene for their children. Changing mats, wipes, hand sanitizer and cleaning materials will be provided by TLC Sitters for the use of the caregivers during the hours of care.

Rick Frith2019-01-31T13:05:00-05:00

Help Us to Fulfill Our Mission

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

Recent advances in managing and understanding Klinefelter syndrome

How AXYS accomplishes our mission: introducing the 2019 AXYS Committees

AXYS Clinic and Research Consortium Spotlight: Children’s Hospital of Philadelphia

Klinefelter and All XY Variations Program at CHOP

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Financial Assistance Resources

Financial Assistance Resources

ARC of the United States
Autism Society
Disability Info
Easter Seals
Family Voices
State Councils on Developmental Disabilities
Parent-To-Parent
United Cerebral Palsy

2019 AXYS Family Conference T-Shirts

Past Conferences

Past Conferences

Sponsorship Opportunities

Sponsorship Opportunities

Children and Childcare