Library

Emotion regulation in adults with Klinefelter syndrome (47,XXY)

2019-10-10T16:02:50-04:00Categories: 47,XXY (Klinefelter)|

Article Title: Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

Authors: Sophie van Rijn and Hanna Swaab

Date of Publication: October 8, 2019

This paper is from ACRC member and AXYS Family Conference presenter Dr. Sophie van Rijn. While only 26 men participated in this study and the results are from a self-reported questionnaire, this paper shines a light on issues commonly faced by adults with 47,XXY.

The aim of this study was to evaluate if language and executive functioning deficits in individuals with 47,XXY contribute to emotion regulation problems. Results: Atypical emotion regulation strategies were found in the XXY group, with increased expression of emotions (69%), avoiding (65%), distraction seeking (54%), and passive coping (54%). More difficulties in mental flexibility and attention regulation, and speeded responding were associated with more pronounced emotion expression (emotional outbursts). Emotion regulation problems were associated with symptoms of anxiety, depression, thought problems, and hostility.

Conclusion: This study has identified emotion regulation as a potential target for treatment and intervention, with a specific focus on executive functions in the management of emotions in individuals with 47,XXY.

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Tina Hanif’s Story

2019-08-29T13:03:36-04:00Categories: 47,XXY (Klinefelter), All Variations|Tags: |

When I got the in utero diagnosis of my son’s XXY in 1995, I had feelings of despair, confusion, frustration, and sadness. My husband and I went to the public library in Manhattan to explore KS information, per the geneticist’s recommendation. We were traumatized by the photographs and misinformation.

Dr. Adler, my OB/GYN was very consoling and empathetic. He gave me Melissa Aylstock’s information and told me she was fighting for her son and other KS kids through KS & Associates, the organization she founded.

Melissa was sweet, kind, concerned and very responsive to my plea for help!  Back then it was ‘long distance’ phone calls to California from NJ. We were on the phone for hours. Melissa sent me an overnight package with photographs of her son, whom she had self-diagnosed, along with photos of other KS guys. They looked NOTHING even close to the pictures we had seen at the library. In fact, they were handsome guys with no physical signs of anything unusual.

I had the good fortune of meeting Melissa and her son at the 1995 KS&A conference. A couple dozen people attended that event. I witnessed the growth of AXYS, (KS&A was renamed AXYS in 2014) when I attended the 2019 conference with nearly 400 participants: medical professionals, parents, and individuals with X and Y variations, who traveled from all over the US, South America and even Europe to attend. Attending the conference was not only nostalgic for me as I reflected back on 1995, but also a sign of hope that awareness, support and education are on the rise.

I raised my son alone, well, along with a few good nannies and sitters. My son is a smart, handsome, caring, kind, person with drive and passion.  As my son struggles with KS related neurocognitive issues, I continue to look for answers while guiding him along the way to independence.

My involvement with AXYS is driven by not only my need to help others, but a moral obligation to do like Melissa did: sincerely give back to others, to give hope to parents not sure of the outcome, listen and empathize with families, provide references or referrals when needed and most of all, to help spread awareness, support and education about X and Y variations.

Tina Hanif
Leader of the Florida Support Group

Laurie Milton’s Story

2019-08-30T16:17:34-04:00Categories: 48,XXYY, All Variations|Tags: |

Due to speech and language delays my son started in special education preschool. When my son entered kindergarten, his teacher saw similarities between Kent and another boy who was diagnosed with XXXXY. We took her advice and got genetic testing for our son.

We learned back in 1994 that our son did not just have one extra X as we suspected but has an extra X and an extra Y; he has XXYY.

Our doctors suggested we not read the older literature that painted a horrid picture for our son but instead told us to contact KS&A and join the support group. As it turned out, Melissa Alystock lived less than a mile from us. Our kids attended the same schools.

Melissa Alystock started holding conferences to gather people with X and Y variations together. She sought and received grants from pharmaceutical companies to support these events. In addition, she gained the professional support and services of health care professionals who met with families at these events. It was life changing for many to meet with a doctor, genetic counselor or other professional that was knowledgeable about X and Y conditions.

Melissa and her husband needed help managing this fast growing organization so she asked me to join the board and then I served as a moderator for the listserv. I saw the challenges trying to meet the needs of grown men with X and Y variations as well as simultaneously meeting the needs of parents of younger children without overwhelming them. There is only so much many of us can process at once, so some families step back from support groups but then later rejoin either when they need assistance or when they are in a position to offer it.

I financially support AXYS (The XXYY Project) and encourage my family to do so also. This assures there is help, information and research for all when it is needed.

AXYS Executive Director Visits Michigan

2019-08-26T13:21:49-04:00Categories: All Variations|

My favorite part of serving AXYS as your Executive Director is getting to know our community. In mid August I was in Michigan visiting my family and had the pleasure to meet 7 families in our community.

Jennifer, a Mom of a 2-year-old with XXXY and I were hosted by Elisha, a mom of a 2-year-old with Trisomy X. Elisha lives in the city where I grew up. Both Moms shared the wish that the support groups shared more triumphs and positive stories as well as answering questions when problems arose. With a toddler, you have so much ahead of you, so the hope the positive stories offer are greatly needed. So everyone reading this, please keep sharing positive photos and stories in our support groups.

That evening, I had dinner with Jaime and Jeff and their daughter. They are the parents of a teen with XXY, who would have come with his family but had a much more fun offer from his friends. Jaime has attended a few conferences, including our the 2019 AXYS Family Conference in Atlanta. She shared her thoughts on the conference, including the desire for more teen activities and more sibling activities.

The following evening I met with Kathy, who also attended the conference.  Our conversation focused on her adult son with XXY, and the work it takes to get SSI. I shared the relevant videos from our YouTube Channel. Kathy gave me candy from Bay City’s most famous candy store St. Laurent Brothers, where Madonna stops to get candy when she is in the area.

On Friday, Wendy and her son John, a 30-year-old with XXY, drove 75 miles to meet me, and Dan and Sonya who have a son with XXY. Wendy offered to share brochures with doctors in Grand Rapids. Thank you Wendy!!

I met Nancy who has a 30-year-old son with XXYY and Brandy and her son 15-year-old XXY son at Ray’s Ice Cream. I used to go there as a child and I had a Boston Cooler, a drink only those from the Detroit area will know.

Kevin and Joy—thanks for reaching out and I hope we can connect the next time I get to Michigan.

Cami—I hope we can meet the next time I’m in Bay City.

Stefan Schwarz Remembers

2019-08-31T14:04:26-04:00Categories: All Variations|Tags: |

When KS&A was formed in 1989 by an Ann Landers letter that Melissa Aylstock had written, the organization took off from there. Melissa was very welcoming to new families, and to men newly diagnosed with KS. She ran the organization practically by herself. While her husband assisted, she was the webmaster and handled listserv duties when that started in 1997.

I first met Melissa and her husband Roger at my first national conference in Bellevue, Washington in July 1996. Though I was a much different person back then, I finally met other men like me and also got a taste of how to start and run a support group. I brought that information back with me to Boston — where I had recently moved — and Melissa assisted me with getting the Boston area/New England based support group going. Melissa stayed with me in my Boston area apartment when she and I attended a genetics conference in the Boston area, where I gave a presentation. She also attended the second or third support group held in the Boston area.

So I got involved immediately just after returning from the 1996 national conference and wore a lot of hats and did a lot of work for her and the organization. I presented two sessions at the 1997 conference, as well as at the 1998 conference. I co-chaired the national conference in Baltimore in 1999 and planned a good conference with added bonuses as we were celebrating the 10th anniversary of the organization.

I was recruited back to KS&A as a pediatric lead (don’t remember the exact title) and I gave my all in that role for about 3 or 4 years. I handled other roles during that time, but kept true to myself with my personal KS website and supported anyone who needed my assistance throughout the world.

Between the early part of 1997 and the end of 1999, I was putting in about 40 hours per week of volunteer work, while working 40 hours of my full-time job.  Because of my volunteer work, I considered getting my master’s in genetic counseling and even started a program in late 1997 taking classes to see if it was a good option for my future.

-Stefan

Neurocognitive functioning and risk for psychopathology in sex chromosome trisomy

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

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.

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

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

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 […]

Management of cardiovascular complications in Klinefelter syndrome patients

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

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.”

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What is XYY? Meet Uldis and Find Out

2019-07-22T10:02:17-04:00Categories: 47,XYY|

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

You’d notice Uldis Silgailis. 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. 

Uldis Silgailis shares his experience living with XYY.As a child, Uldis 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. Uldis 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 Uldis. “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. Uldis 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, Uldis 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. 

Uldis 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. Uldis 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 Uldis, 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 […]

Reflecting on the 2019 AXYS Family Conference 

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

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 […]