Monthly Archives: July 2019

Home/2019/July

Neurocognitive functioning and risk for psychopathology in sex chromosome trisomy

Article Title: A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY)

Authors: Sophie van Rijn, PhD

Date of Publication: March 2019

This paper reviews studies that illustrate an increased risk for social, emotional and behavioral problems in individuals with 47,XXY47,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.

Read more

2019-10-10T15:53:37-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

AXYS Awarded $25,000 to Create Continuing Medical Education Course on XXY (Klinefelter Syndrome) in Adults

AXYS Board Chair Gary Glissman and Executive Director Carol Meerschaert accept the Kosloski Family Foundation Grant presented by TJ Torchia (Photo by Stuart Hasson Studios)

June 30, 2019 Atlanta, GA– The Association for X and Y Chromosome Variations (AXYS), dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes, was presented a $25,000 check by TJ Torchia, son of Tony Torchia, CPA, Partner at RotenbergMeril, on behalf of the The Kosloski Family Foundation.  The generous $25,000 grant will be used to develop an online continuing medical education (CME) course to enhance physician knowledge of 47, XXY, also known as Klinefelter Syndrome (KS).

“For 30 years AXYS has worked to increase access to the multidisciplinary care that those with X and Y variations need throughout their lives,” said Carol Meerschaert, AXYS Executive Director. “This generous grant from the Kosloski Family Foundation will support AXYS’ efforts to enhance physician knowledge of the most common X and/or Y chromosome variation, with the ultimate goal of improving the quality and accessibility of medical care for adults with Klinefelter Syndrome.”

It is estimated that nearly 500,000 individuals in the US have Klinefelter Syndrome. Because of this generous support, AXYS will create a readily accessible online program to educate healthcare professionals on the diagnosis and current standards for treatment with the goal of increasing access to care for those with 47, XXY.

“The Kosloski Family Foundation offers grants for medical education,” said Fotini Allteni, director of the Kosloski Family Foundation. Tony Torchia added, “AXYS provides information and support on Klinefelter Syndrome and it was my pleasure to connect them. My son TJ was thrilled to present this check from The Kosloski Family Foundation to AXYS during their family conference.”

AXYS will work with the members of the AXYS Clinic and Research Consortium (ACRC) to develop the CME program, assuring it will meet the needs of physicians who treat adults with KS. 

About AXYS

The Association for X and Y Chromosome Variations (AXYS) is dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes. We focus on sharing knowledge, offering support and initiating action to help improve lives of individuals and families. Learn more at genetic.org.

About the Kosloski Family Foundation

The Kosloski Family Foundation was founded in 2018 by the Estate of Helene Kosloski in honor of her beloved family. The Foundation provides support to health and human services institutions, scholarships to universities, and support for the arts.

Helene J. Kosloski was a philanthropist, respected educator and successful businesswoman.  She received her Bachelor’s degree from Boston University and began her career working for the Springfield NJ School System, where she retired as principal of the middle school.  After retiring, Helene took over the Kosloski family’s real estate business.

Helene made a huge impact in the State of New Jersey through philanthropic efforts to several charitable organizations, including Saint Barnabas Medical Center, The Seeing Eye, Felician University and Rutgers University.

Helene’s mother, Josephine Kosloski, was a lifelong source of inspiration to Helene.  Josephine started the family’s successful real estate business setting the examples for Helene of business acumen, values, and leadership. Due to her mother’s example, Helene was able to take over and manage the business successfully and thus create The Kosloski Family Foundation in honor of her mother and family.

About RotenbergMeril

RotenbergMeril is a CPA firm with offices in the NY/NJ Metropolitan Area. According to both the NJBiz Journal and New Jersey Business Magazine, they are ranked as one of the top accounting firms based in Northern New Jersey, servicing clients across the USA and worldwide. The firm is PCAOB registered and a member of both the Center for Public Company Audit Firms, the Employee Benefit Plan Audit Quality Center, and the Forensic Valuation Services (FVS) section of the American Institute of Certified Public Accountants.

RotenbergMeril has a diversified client base of closely-held businesses, emerging public companies, high net worth individuals, trusts and estates, not-for-profits, foundations and Broker Dealers. The firm has a growing roster of emerging and mid-market SEC public companies that are listed on various exchanges, including the NYSE, AMEX and Nasdaq OTC.

2019-07-31T12:29:30-04:00Categories: 47,XXY (Klinefelter)|

Management of cardiovascular complications in Klinefelter syndrome patients

Article title: Management of cardiovascular complications in Klinefelter syndrome patients

Authors: Giacomo Accardo, et al., University of Campania, Italy

Date of Publication: February 2019

“Klinefelter syndrome (KS) shows increased mortality when compared with mortality rates among the general population. Cardiovascular, hemostatic, metabolic diseases are implicated. Moreover, cardiac congenital anomalies in KS can contribute to the increase in mortality.”

Read more

2019-07-19T14:42:12-04:00Categories: 47,XXY (Klinefelter)|

What is XYY? Meet Steve and Find Out

AXYS shares articles about our community members to help you gain understanding of X and Y chromosome variations on a personal level. Please enjoy this article and learn about XYY. Note: The name “Steve” is a pseudonym used upon request.

You’d notice Steve. A stocky guy, 6’6’’ tall, is hard to miss. But like most men with an X or Y variation, medically known as a sex chromosome aneuploidy (SCA), everyone missed his condition. 

As a child, Steve liked to sit quietly in the back of the class and daydream. He was a smart kid from an academically accomplished family. His teachers and family thought he was just not applying himself. “It was tough to hear the comments from ‘why are you acting so immature?’ to ‘what’s wrong with you?’ over and over.” 

He knew he was different and that school was harder for him, but nobody could explain why. In middle school his family finally got him tested. The child development experts diagnosed him with ADD and dyslexia and put him on medication. Steve did not react well to the meds; they gave him night terrors. 

Not only was school difficult, he had physical differences too. “I had low muscle tone,” said Steve. “That made sports challenging. I’d rather do individual activities like hiking.”  His parents required him to play sports. That was not enjoyable for a boy who had a harder time keeping up physically, found it hard to focus, and who missed social cues. Steve was not timid physically—he loved extreme sports like glade skiing. He also loved solitude and quiet. “I’d go hide in a corner and read a magazine.”

In spite of his challenges, Steve made it to college where he was an average student.  His love of learning served him well. “I like to go to museums, travel to places and explore. Reading about places is not enough.”

Despite social challenges, he married a college professor. When they had trouble getting pregnant they discovered he was not fertile because he produced no sperm. A low sperm count is not that unusual but to produce zero sperm was puzzling. 

Steve wanted to know: why he did not produce any sperm? Why did he get migraines? Why was his muscle tone low? Why did his hands get shaky? Why was he so much taller than his 5’ 9” father? But then came the Internet. Steve began to research his medical issues.

He came across something called Klinefelter Syndrome and took his knowledge to his primary care doctor. The doctor agreed to order some tests, but Steve, tired of waiting for answers, checked off a few more boxes on the lab sheet making sure a battery of tests was ordered, increasing the likelihood that he’d finally get the answer he sought. It was good thing he did, as he discovered his hormone levels were off. 

Steve was referred to an endocrinologist who ordered a karyotype (a picture of a person’s chromosomes) that finally gave him the answer. He had an extra sex chromosome. But not as he suspected–an extra X; Steve has an extra Y.  

He found a doctor that had treated men with XXY but never XYY. The condition is half as common–XYY affects about 1 in 1,000 males. In some individuals, the manifestations of XYY are mild and barely noticeable, while others have more severe symptoms. 

Steve read every research article on XYY he could find online. He learned that about 30% of those with XYY are diagnosed with an autism spectrum disorder. That explained his social issues. While most males with XYY have intelligence in the normal range, many have language-based and other learning disabilities. Other possible concerns include social skill disabilities, immaturity, low self-esteem, ADHD, impulsivity, and anxiety or mood disorders. After learning all of this Steve thought, “This sounds like me.” 

The difficulties a person with XYY has can be alleviated with medical and educational interventions. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders or ADHD can be treated with behavioral therapy, occupational therapy, and sometimes, appropriate medication. Special education accommodations and teaching methods can help those with XYY achieve academic success despite learning disabilities. Some individuals with XYY have significant anxiety related to school, and a change to a smaller classroom environment or an alternative learning setting, including part-time home schooling, can help. If only Steve had been diagnosed sooner. 

Sadly, when Steve got his diagnosis, his wife left him, citing his diagnosis. They had adopted a child who Steve raised as a single parent. Steve has a great job as the Student Center Administrator at a university; he’s been there over 30 years. “I learned that I need a hands-on job,” said Steve.  “I would not do well sitting behind a desk.” Steve described how he, like everyone, had to find his niche. He recommends that everyone “find where you fit in life.” 

It has not always been easy. His job was jeopardized by misunderstandings with a manager, but disclosing his diagnosis to the HR department and filing a claim with the EEOC straightened out the problem. “I knew the sudden poor performance reviews, when I had been a stellar employee, were discrimination, so I took action.” 

Today Steve is raising his son and works to educate healthcare providers and parents about XYY. “It is not that bad,” he says. Steve hopes that someday all doctors and educators will be well versed in sex chromosome aneuploidy (SCA) so people affected get diagnosed very young and can receive the interventions that make life easier. “I also hope they will treat the whole person, not just the symptoms. It is a holistic view that aids diagnosis of an SCA and really helps children.”

Steve served on the board of AXYS, the Association for X and Y Variations. He refers parents with questions to their website genetic.org and their toll free Helpline (888-999-9428) or helpline@genetic.org, where trained volunteers answer questions free of charge. He supports AXYS’ efforts to develop clinics for adults with SCA. “We need to know what to expect as we age,” said Steve. “A study back in the 80s reported that the average life expectancy of a man with XYY is 10 years less than average. For an XXY guy it is 5 years less. Maybe we can change that.”

2019-11-13T21:56:33-05:00Categories: 47,XYY|

Reflecting on the 2019 AXYS Family Conference 

We promised that our 2019 AXYS Family Conference would be the best one yet and we achieved that goal. Nearly 400 participants from as far away as Brazil and The Netherlands gained knowledge and understanding in Atlanta. You could feel the strong sense of community and watch friendships blossom. Here are some comments from those who attended in their own words:  

“The people my daughter and I met were amazing.” 

“A real sense of community was present at this conference.” 

“The camaraderie with other parents was invaluable. Seeing our son mingle with the other guys so comfortably. The bowling, pool, and billiards were a hit!”

“This conference has changed our lives, and in return our son’s…AXYS is a family I am proud to have, my admiration of the doctors is off the charts!!!”

“I had a WONDERFUL experience at the conference. I learned so much, and my cup is full of knowledge that I am excited to share. I’m already looking forward to the next conference. Thank you to all the people in the background who got things together. I know it’s a job. Thank you so much.” 

From an exhibitor: “I wanted to thank you for producing a flawless event where researchers and clinicians could share our findings with the families and other professionals. The event felt very well organized and we felt very well taken care of in terms of food and drink, along with comfortable places to talk with families and among ourselves.  Both formal and impromptu discussions about our research with families who have participated in the past, are about to participate in the near future, or are now considering participating thanks to these opportunities, were truly the highlight of the conference.”

AXYS offered live webcasting for the first time. From as far away as Cyprus, 35 families were able to participate from their homes, watching sessions as they happened and submitting questions for the speakers. These sessions were recorded and are available on our YouTube channel

To share knowledge with those who could not join us and to serve as a review for those in attendance the slide decks and the posters are available on our website. We also have slide decks and recordings from past conferences that remain relevant and offer practical knowledge. Visit /about/conference-mtrls/.

Everyone at AXYS offers deep gratitude to all who learned from our amazing speakers, enjoyed bowling in Wisteria Lanes, gained new friends, participated in group and family portraits, met researchers, and joined support groups. Over 90% reported the conference met or exceeded their expectations and over 80% said they learned what they were hoping to learn. 

Numerous aspects of this event were taken from the suggestions offered after the 2017 conference including: lunch choices, conference t-shirts, having a place for teens and adults to hang out and play cards or board games, having a session with awareness advocates, special ‘retreat’ sessions for parents of infants and toddlers and another retreat on transitioning to adulthood. Most session topics came from our community including: special education, testosterone replacement, fertility, siblings and mental health.  Our thanks to all who offered more great suggestions that we will use to plan the next conference.

More from attendees in their own words: 

My son is not alone… I am not alone and most of all, it was NOT MY FAULT! I have felt so guilty about my son being diagnosed with xxy and always thought I had done something to cause this!” 

“I had a chance to speak with families/caretakers of other XXYY guys and realized that so many of them are going through the same things that our family is going through. It’s nice to know that you are not alone.” 

“I got so much out of the interaction with other KS men and their family members. I shared a lot with them and learned a lot from them”

“Networking was huge. Also great for my young adult son to meet others and meet some great role models.”

“The most valuable part of the conference for me was meeting and interacting with the other Trisomy X families, especially the teens. I loved them all.” 

“Our first conference… day one…what we have learned and the amazing people we have met…there are just no words to express the love and respect 😊…in just one day, we have gained more information, and had things explained to us by the EXPERTS in AXYS that our doctors couldn’t in 11 years!!…And on top of the brilliant minds….each and every Doctor and the entire AXYS family was more caring than the next!!!!!…the information we received today will take us days to digest …lol ….we have learned things today….that our own doctors are misinformed about!!!…This conference will make a difference not just in my sons life ….but in every one of his doctors lives from this day forward ….THANK YOU”

“Not enough words to describe the feeling of satisfaction, friendships formed, knowledge gained, great speakers, good food, amazing Emory Conference Center, and so much more… Thank you Gary GlissmanCarol Meerschaert, and everyone from AXYS and elsewhere who worked so hard to make this Conference such a success! Grateful, hopeful, optimistic and ready to fight harder through this journey. Stronger together as we move forward to break barriers for X and Y Variations!”

(Photos by Stuart Hasson Studios)

2019-08-03T12:52:41-04:00Categories: All Variations|Tags: |
Go to Top