ACRC Accomplishments

In 2015, the AXYS Board of Directors voted to approve the development of the AXYS Clinical and Research Consortium (ACRC). The two goals that AXYS defined at that time were to improve the availability and the quality of services to the X&Y variation community. As the ACRC grew, the original goals were refined to be as follows:

Make life easier for those seeking evaluation and treatment.
Bring consistency to treatment that is consensus and/or evidence-based.
Advance the overall X&Y variation field through coordinated efforts including research.
Bring clinical excellence to the field of X&Y variations.

Though each clinic operates independently, as members of a consortium, they collaborate with one another, share informational resources, and have the opportunity to participate in joint research projects.

In addition, AXYS organizes annual meetings of the consortium at which members meet to discuss topics important to the X&Y chromosome variation community. AXYS works to ensure that all families impacted by any of the chromosome variations have access to the best available evaluation and treatment or treatment recommendations.

Timeline of the ACRC

(Click on the year to see the accomplishments for that year.)

2014

• AXYS brought on Robby Miller as an experienced consultant to assist AXYS in creating the ACRC

2015

First meeting of ACRC 2015

• The formation committee, Dr. Tartaglia and Susan Howell of the eXtraordinarY Kids Clinic in Colorado, Jim Moore the AXYS Executive Director and Robby met. The consortium was formed.

• First ACRC meeting held in Denver

• AXYS Clinical Needs and Desires survey, supported by AXYS, Emory University and PCORI began

2016

• AXYS Clinical Needs and Desires survey concluded. Results presented to ACRC by lead investigator Dr. Sharron Close

• Launched with 8 founding clinics: Atlanta, Baltimore, Chicago, Denver, Los Angles, New York, Stanford, Wilmington

2017

• ACRC meets in Denver

• Discussed need for Adult clinics

• Added clinic in Wake-Forest

2018

• ACRC meets in Chicago

• Began Consensus Documents

• Added clinic in Philadelphia

2019

• ACRC meets in Atlanta

• Conducted study to pilot a process to form clinics for adults, funded by the WITH Foundation Grant. Study led by Sharron Close at Emory University and Susan Howell at Colorado Children’s Hospital.

• AXYS awarded grant from the Kosloski Family Foundation to create CME course on Klinefelter Syndrome in Adults

• Added clinics in Boston and Cleveland

Photo of 2019 ACRC meeting

2020

• First virtual ACRC meeting

• Held quarterly ACRC meetings with dedicated discussions on telehealth, Families of Color and Adult clinics

• Added clinic in New York, second clinic in Philadelphia for adults

• Added first international clinics in Vancouver, Canada and Århus, Denmark

• Expanded ACRC to include clinical researchers:

- Megan A. Allyse, PhD. Mayo Clinic, United States
- Christine Disteche, PhD, University of Washington, United States
- Claus Gravholt, MD, PhD, Aarhus University Hospital, Århus, Denmark
- Armin Raznahan MD, PhD, National Institutes of Health, United States
- Sophie van Rijn, PhD, Leiden University, The Netherlands

• Published first Consensus Documents

2021

• Added international clinic in London, UK

• Supported by grants from AXYS and The XXYY Project, GALAXY Registry project launched

2022

• The XXYY Project launches ACRC Clinic Visit Stipend

2023

• ACRC Clinic Visit Stipend expanded for all X&Y variations

• Added 2 ACRC Clinics (Sacramento and Chicago) for a total of 18 clinics

Rick Frith2023-10-25T12:01:21-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: ACRC|

Metabolic and cardiovascular risk factors in Klinefelter syndrome

Article Title: Metabolic and cardiovascular risk factors in Klinefelter syndrome

Authors: Spaziani and Radicioni

Date of Publication: June 2020

“Klinefelter syndrome (KS), which normally presents with a 47,XXY karyotype, is the most common sex chromosome disorder in males. It is also the most common genetic cause of male infertility. KS subjects are typically tall, with small and firm testes, gynecomastia, broad hips, and sparse body hair, although a less evident presentation is also possible. KS is also characterized by a high prevalence of hypogonadism, metabolic syndrome (MetS) and cardiovascular disease. The aim of this article is to systematically review metabolic and the cardiovascular risk factors in KS patients. Hypogonadism has an important role in the pathogenesis of the changes in body composition (particularly visceral obesity) and hence of insulin resistance and MetS, but the association between KS and MetS may go beyond hypogonadism alone. From childhood, KS patients may show an increase in visceral fat with a reduction in lean body mass and an increase in glucose and impaired fat metabolism. Their increased incidence of congenital anomalies, epicardial adipose tissue, and thromboembolic disease suggests they have a higher risk of cardiovascular disease. There is conflicting evidence on the effects of testosterone therapy on body composition and metabolism.”

Rick Frith2020-11-05T15:04:15-05:00Categories: 47,XXY (Klinefelter)|

Executive function in XXY: Comparison of performance-based measures and rating scales

Article Title: Executive function in XXY: Comparison of performance-based measures and rating scales

Authors: Janusz, Harrison, C. Boada, Cordeiro, Howell, Tartaglia, and R. Boada

Date of Publication: June 2020

“Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/ problem solving. Parent ratings showed similar challenges, as well as impaired inhibition. Independent sample t-tests showed no difference on performance measures between boys diagnosed or not diagnosed with attention-deficit/hyperactivity disorder (ADHD), although parents of boys diagnosed with ADHD reported more difficulties. There were no differences on performance-based tests between those diagnosed pre- and postnatally, although parents of postnatally diagnosed boys reported more metacognitive problems. Language deficits, cognition, and socio-economic status did not account for EF deficits.”

Rick Frith2022-02-25T17:07:32-05:00Categories: 47,XXY (Klinefelter)|Tags: ADHD, Executive Function|

Rare sex chromosome variation 48,XXYY: An integrative review

Article Title: Rare sex chromosome variation 48,XXYY: An integrative review

Authors: Blumling, Martyn, Talboy, and Close

Date of Publication: April 9, 2020

“48,XXYY presents with a wide spectrum of physical, psychological, and neurocognitive symptoms, and frequently requires complex interdisciplinary care. In order to better understand this disorder and to appropriately treat the individuals affected by it, future research should focus on experimental studies and research that utilizes a variety of methods, including participant interviews and patient-report surveys.”

Rick Frith2020-09-10T14:38:16-04:00Categories: 48,XXYY|

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Article Title: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Authors: Green, Flash, and Reiss

Date of Publication: January 2019

“The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.”

Rick Frith2020-05-25T15:21:05-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Other Variations|Tags: Neuropsychiatry|

School’s out! Now what? – Distance Learning Resources

Resources for Families and Professionals during COVID-19 and Beyond

ADHD

CHADD/National Resource Council Guidance for Uncertain Times

The National Resource Center on ADHD (NRC), a program of CHADD, was established to be the national clearinghouse for the latest evidence-based information on ADHD. The NRC serves as a National Public Health Practice and Resource Center (NPHPRC) with the mission to provide information, education and consultation about assessment, diagnosis, treatment, and issues of health and well-being for children with ADHD and their families. Multiple resources relevant to setting up home learning, supporting organization and time management, and managing strong emotions during COVID-19 have been posted.

ADDitude Magazine: ADHD in a Pandemic

ADDitude provides a range of resources for families, educators, and individuals affected by ADHD with downloadable resource manuals, frequent webinars, and articles on a range of topics related to ADHD.

Autism

AFIRM COVID-19 Toolkit: Supporting Individuals with Autism During Uncertain Times

The UNC Frank Porter Graham Child Development Institute Autism Team created a comprehensive guide with visual tools and resources related to support strategies, coping and calming skills, hygiene, daily schedules and routines, communication, activities, and more.

AFIRM COVID-19 Supplemental Toolkit for Adults

This guide was developed as a response to many self-advocates and family members who reached out to our team to develop resources for adults. It is intended to centralize many different adult-specific resources and can serve as a supplement or companion guide to the Supporting Individuals with Autism through Uncertain Times toolkit. The materials are divided into four topic areas: COVID-19 Resources, Daily Living Resources, Social Connectedness Resources, and Mental Health Resources.

Cincinnati Children’s Division of Developmental and Behavioral Pediatrics Coronavirus (COVID-19) Virtual Outread Series

In partnership with the University of Cincinnati Center for Excellence in Developmental Disabilities (UCCEDD), provides training and community education to parents, caregivers, and community members on relevant topics impacting individuals with developmental disabilities and their families.

UC Davis ADEPT Parent Training

ADEPT (Autism Distance Education Parent Training) Interactive Learning is a 10-lesson interactive, self-paced, online learning module. The goal is to provide parents with tools and training to more effectively teach their child functional skills using applied behavior analysis (ABA) techniques.

Educational Rights and Advocacy

ADDitude Magazine: Your Child’s Educational Rights While Crisis Schooling: IEPs and 504 Plans in a Pandemic

DREDF provides updates on legislation and policy, sample templates for use in corresponding with districts, and articles on topics related to education and health care for individuals with disabilities. (Virtual IEP Meeting Request for COVID-19 Contingency Plan)

March 12, 2029 Questions and Answers about Providing Special Education from the Department of Education

March 21, 2020 Supplemental Fact Sheet from the Department of Education

Wrightslaw COVID-19 Parent Advocacy Fact Sheets

Learning Differences

International Dyslexia Organization: (Free, Downloadable) Dyslexia and Reading Disabilities Resource Guide for Families and Educators Affected by COVID-19

Learning Disabilities Association of America Resources Page

This includes several resource documents and webinars pertaining to supporting students with disabilities.

LD Online

LD OnLine is a national educational service of WETA-TV, the PBS station in Washington, D.C. that includes resources and articles on a range of topics related to learning disabilities as well as AD/HD.

Understood.org

Understood.org provides articles that explain learning differences and related issues in an accessible manner for families, individuals with learning differences, and professionals.

Motivation, Coping Strategies, Social Skills, and Behavior

Lives in the Balance

Dr. Ross Green’s Collaborative Proactive Solutions model offers families and school staff concrete strategies for helping understand the ‘why’ of a child’s behavior, to identify “lagging skills,” and to collaboratively come up with a plan for change. The Explosive Child Podcast, Episode 25, Collaboration in Trying Times

Social Thinking Free Stuff for Use at Home and School/Social-Emotional Support Strategies

Resources include read Aloud Books and Thinksheets, video lessons, webinars, and articles.

Zones of Regulation

Created by an Occupational Therapist, the Zones of Regulation is a framework designed to foster self-regulation and emotional control. This site includes free downloadable resources as well as free webinars showing how to adapt resources for home during Distance Learning.

Positive Parenting During COVID-19

World Health Organization Parenting During the Time of Covid-19

To help parents interact constructively with their children during this time of confinement, these 12 one-page tips for parents cover planning one-on-one time, staying positive, creating a daily routine, avoiding bad behavior, managing stress, managing anger, how to encourage play, and talking about COVID-19.

Stress, Resilience, and Mental Health Topics

American Psychological Association COVID-19 Resources

Resources from the American Psychological Association on managing stress and coping during this pandemic.

Child Mind Institute

Articles on a range of topics, including learning disabilities, autism, anxiety, depression, and mood issues.

Greater Good Guide to Well-Being During the Coronavirus

Discover science-backed practices for more resilience, connection, and well-being, with step-by-step instructions on how to implement them in your life. Articles focus on reducing stress, managing anxiety, and fostering happiness.

Greater Good Article: How to Reduce the Stress of Homeschooling on Everyone

National Suicide Prevention Lifeline

The National Suicide Prevention Lifeline provides free and confidential emotional support to people in suicidal crisis or emotional distress 24 hours a day, 7 days a week. Call 1-800-273-8255 or visit their website to chat with a crisis counselor.

Right Now I’m Fine

This free book is for anyone affected by worries, fears, discomfort, or nagging thoughts about the Coronavirus (Covid-19). This is a scary time in the world, full of uncertainty and changes. But the good news is, there are things that we can do to take good care of ourselves. This book explains what you can do to keep your mind and body calm now and during any hard time.

Talking with Children about Covid-19

My Hero is You: How kids can fight COVID-19!

With the help of a fantasy creature, Ario, “My Hero is You, How kids can fight COVID-19!” explains how children can protect themselves, their families and friends from coronavirus and how to manage difficult emotions when confronted with a new and rapidly changing reality.

National Association of School Psychologists: Resources & Publications

Traumatic Stress Network: Supporting Children During Coronavirus

Offers ways to support children and talk to them about COVID-19. This fact sheet describes how to start a conversation with children about COVID-19, correct inaccurate information, encourage children to ask questions and how to answer them, help children self-regulate, and outlines common reactions, how to stay connected, practice self-care, and what to do if you need extra help.

Other Resources

Special AXYS Newsletter: Resources for Distance Learning, Keeping in Touch, Staying Relaxed & More

School’s Out! Now What? Presentation Slides

Rick Frith2026-03-12T16:21:38-04:00Tags: Distance learning, Education|

AXYS Activities Conduct Policy

Reviewed and Updated June 2025

AXYS is committed to providing a family-friendly atmosphere at our events where all participants feel comfortable. Members of the AXYS community differ in their comfort levels with regard to conversation, personal space, and need for quiet time, and we respect that. AXYS expects all participants to enjoy a welcoming environment free from unlawful discrimination, harassment, and retaliation. We strive to be a community that welcomes and supports people of all backgrounds and identities. This includes, but is not limited to, members of any race, ethnicity, culture, national origin, color, immigration status, social and economic class, educational level, sex, sexual orientation, gender identity and expression, age, size, family status, political belief, religion, and mental and physical ability.

All participants in all AXYS conferences or other activities—whether official or unofficial—agree to comply with all rules and conditions of the activities. Your registration for or attendance at any AXYS event indicates your agreement to abide by this policy and its terms.

Expected Behavior

Model and support the norms of respect necessary to promote the conditions for healthy exchange of ideas.
Speak and conduct yourself appropriately; do not insult or disparage other participants.
Be conscious of hierarchical structures in the AXYS community, specifically the existence of stark power differentials between those of different ages—noting that fear of retaliation can make it difficult for people to express discomfort, rebuff unwelcome advances, and report violations of the conduct policy.
Be sensitive to body language and other non-verbal signals and respond respectfully.

Unacceptable Behavior

Violent threats or language directed against another person
Discriminatory jokes and language
Inclusion of unnecessary sexually explicit, violent, or otherwise sensitive materials in presentations
Posting (or threatening to post), without permission, other people’s personally identifying information online, including on social networking sites
Personal insults including, but not limited to, those using racist, sexist, homophobic, or xenophobic terms
Unwelcome solicitation of emotional or physical intimacy such as sexual advances; propositions; sexual flirtations; sexually-related touching; and graphic gestures or comments about sex or another person’s dress, body, or sexual activities
Advocating for, encouraging, or dismissing the severity of any of the above behaviors.

Consequences of Unacceptable Behavior

At the AXYS’s sole discretion, unacceptable behavior may result in removal from or denial of access to meeting facilities or activities, without refund of any applicable registration fees or costs. In addition, AXYS reserves the right to report violations from an individual can lead to criminal or civil charges, including fines, lawsuits, or even imprisonment. Those engaging in unacceptable behavior may also be banned from future AXYS activities or face additional penalties. Unacceptable behavior can significantly harm an individual’s reputation, making it difficult to find future employment or volunteer opportunities within AXYS.

What to Do if You Witness or Are Subject to Unacceptable Behavior

If you are being harassed, notice that someone else is being harassed, or have any other concerns relating to harassment, please contact the Executive Director or a Board Member. If you witness potential harm to a conference participant, be proactive in helping to mitigate or avoid that harm; if you see or hear something that concerns you, please say something.

Process for Adjudicating Reports of Misconduct

AXYS will reserve the right to consult with an independent entity to manage and adjudicate reported violations of the conduct policy.

Political Neutrality

AXYS is a nonpartisan organization and maintains strict political neutrality. To ensure a respectful and inclusive environment, discussions or expressions of political views, party affiliations, or support for political candidates are not permitted in any organizational setting, including meetings, events, and communication channels. Employees, volunteers, and representatives are expected to refrain from political discussions while acting in any capacity on behalf of the organization.

Note: This Code of Conduct may be revised at any time by AXYS and its terms are non-negotiable.

Rick Frith2025-07-17T17:29:13-04:00

Neural systems for social cognition: gray matter volume abnormalities (Sophie van Rijn et al)

Article Title: Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder

Authors: Van Rijn, Swaab, Goddard, and Rombouts

Date of Publication: 2015

Rick Frith2020-04-02T14:25:54-04:00Categories: 47,XXY (Klinefelter)|Tags: Autism Spectrum Disorder|

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Rick Frith2026-02-01T15:13:22-05:00

Laurie Milton’s Story

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.

Rick Frith2019-08-30T16:17:34-04:00Categories: 48,XXYY, All Variations|Tags: 30th Anniversary|

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Resources for Families and Professionals during COVID-19 and Beyond

ADHD

Autism

Educational Rights and Advocacy

Learning Differences

Motivation, Coping Strategies, Social Skills, and Behavior

Positive Parenting During COVID-19

Stress, Resilience, and Mental Health Topics

Talking with Children about Covid-19

Other Resources

AXYS Activities Conduct Policy

AXYS Email Archive

Newsletters