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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

Other Variations

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Article Title: Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Authors: Ricciardi, Cammisa, Bove, Picchiotti, Spaziani, Isidori, Aceti, Giacchetti, Romani, and Sogos

Date of Publication: November 9, 2022

“Our study aimed to analyse the neurocognitive, linguistic and behavioural profile of patients affected by supernumerary SCAs, specifically tetrasomy and pentasomy. We investigated the verbal abilities, both expressive and receptive, as well as the metalinguistic comprehension and attentive skills
of these patients.”

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2023-11-16T13:25:08-05:00Categories: 48,XXXY, 48,XXYY, Other Variations|Tags: , |

Executive Director Carol Meerschaert Celebrates 5th Anniversary at AXYS

I am excited to have celebrated my 5th anniversary as the Executive Director of AXYS on October 8th, marking five years of incredible accomplishments for our organization. I am extremely proud of what we have achieved together during this time, and want to take a moment to highlight some of our key milestones:

Financial: I meticulously examined every expense, forged relationships with cost effective vendors, chose less expensive yet feature rich software platforms, and improved our practices, resulting in annual savings of $25,000 for AXYS.

    • I revamped our financial practices, adding checks and balances to assure accurate accounting. We switched banks allowing us to earn interest on our cash reserves and receive cashback benefits on our credit card.
    • A fund was created that, with continued dedication and hard work, will eventually serve as an endowment, ensuring financial stability for AXYS during challenging times.
    • Since the beginning of the century, AXYS ended the year net negative 10 times. AXYS has not seen a single year with negative net revenue during my tenure.

Expanded Outreach: We expanded our reach by adding dedicated website sections for Mosaic and XXXY variations. Additionally, we welcomed our first board member representing the XXXY community and offered support groups for Mosaic and XXXY during the 2023 virtual conference.

Diversity and Inclusivity: We prioritized board member diversity, now including BIPOC and LGBTQ+ board members, as well as 3 adults with an X or Y variation. We have also introduced support groups and conference sessions for these diverse groups, along with valuable research on gender, sexuality, and other critical topics.

Adaptability: We successfully navigated the challenges posed by the pandemic by pivoting from in-person to virtual programming, ensuring our services continued to reach those who need them. We created innovative chats, a Family Game Night, a week-long AXYS Summer Camp and a virtual conference.

ACRC Expansion: The AXYS Clinical and Research Consortium (ACRC) doubled from 9 clinics when I started to 18 today; half of these clinics serve adults.

We added the clinical researchers to our consortium. They do not see patients as a typical clinic would—they dedicate their professional lives to helping us understand more about X and Y variations.

GALAXY Registry: AXYS supports the GALAXY Registry, a project that has long been on the wish list. AXYS offers both financial support and oversight as AXYS community members serve on the steering committee.

Stewardship and Development: Recognizing the need to secure substantial gifts, I initiated a focused effort on stewardship and development. This effort bore fruit in July, when AXYS received two major gifts, making it a record-breaking month for us.

Cost-Efficient Website Revamp: We revamped our website at zero additional cost, a remarkable achievement considering the $10,000 price tag of our last redesign. Thanks to all of the community members from every variation who contributed their input on dozens of Zoom calls, surveys, and messages, assuring the website content is up-to-date and meets the needs of each part of our community.

Kudos to Richard Frith for all of the work he did on the update, while still serving as communications manager, tech lead and all-around support for AXYS. Rick is amazing!

I extend my heartfelt appreciation to our dedicated board members, support group leaders, Helpline volunteers, and everyone who selflessly contributes to support the AXYS community. I eagerly anticipate the journey ahead, and with your unwavering support, we will continue to make strides toward our mission.

Our work remains unfinished until every individual with an extra X or Y chromosome is aware of their condition, every medical professional comprehends X and Y variations and the unique care needs, every teacher provides the best education our community deserves, and no one faces discrimination or negativity because of their X or Y variation.

Thank you for being part of this remarkable journey, and here’s to many more years of progress and success.

Sex Chromosome Dosage Effects on White Matter

Article Title: Sex Chromosome Dosage Effects on White Matter

Authors: Warling, Yavi, Clasen, Blumenthal, Lalonde, Raznahan, and Liu

Date of Publication: June 12, 2021

“These findings represent the most complete maps of X- and Y-chromosome effects on human white matter to date, and show how such changes connect to psychopathological symptoms and gray matter anatomy.”

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Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

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What’s missing in sex chromosome aneuploidies? Representation and inclusion

Article Title: What’s missing in sex chromosome aneuploidies? Representation and inclusion

Authors: Mehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer

Date of Publication: January 2022

“Given that KS/TS happen by chance, theoretically, these rates should be similar across racial/ethnic groups. Namely, the rates of KS/TS should be similar among non-Hispanic Whites and Black, Indigenous, People of Color (BIPOC) communities. Currently, it is unknown to what extent HR-QoL has been examined in BIPOC communities affected by KS/TS. To provide culturally-informed care for all patients with KS/TS, it is critical to understand the experiences of BIPOC communities. We conducted a systematic review of the literature on HR-QoL in KS/TS to examine the extent that BIPOC communities have been included and represented in the literature to date.”

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Variegation of autism related traits across seven neurogenetic disorders

Article Title: Variegation of autism related traits across seven neurogenetic disorders

Authors: Lee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan

Date of Publication: April 7, 2022

“Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs.”

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Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Article Title: Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Authors: Meredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers

Date of Publication: October 29, 2022

“While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.”

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Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

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Supporting students with sex chromosome aneuploidies in educational settings

Article Title: Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Authors: Thompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia

Date of Publication: August 2022

“Many parents reported their children’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.”

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