News 2023

  • Monday 29th May 2023

    Now Available: Traditional Chinese Version of Healthcare Recommendations for Adults

    In early 2023, we published clinical recommendations for children and youth, adults, and prenatal care. We have now translated the adult document into Traditional Chinese. Many thanks to everyone involved in this important project. We hope to translate the guidelines into more languages. If you are able to contribute, please contact the lead authors.

  • Thursday 2nd February 2023

    Updated Healthcare Recommendations published

    The 22q11.2 Society is delighted to share with you that we have successfully published three very important papers:

    The Updated Pediatric Healthcare Recommendations
    Published February 2nd, 2023

    The Updated Adult Healthcare Recommendations
    Published February 2nd, 2023

    Newly developed Prenatal Screening and Diagnostic Considerations for 22q11.2 Deletion Syndrome
    Published January 6th, 2023

    We are enormously grateful for all those contributing to this work, in particular lead authors Sólveig Óskarsdóttir, Erik Boot, Donna McDonald-McGinn, Anne Bassett, and Natalie Blagowidow, as well as Lauren Lairson who provided immeasurable administrative support. We are sure these papers will be highly cited and most importantly will make a huge impact on clinical care for patients and families worldwide. Please feel free to share broadly.

    Next on our “To Do” list will be to support the development of subspecialty guidelines, also discussed during the meeting in Split, capitalizing on the REDCap database built by Blaine Crowley and updated by Joanne Loo inclusive of literature reviewed from January 1, 1992 to April 14, 2021, the details of which can be found in the Supplemental Materials for the Adult and Pediatric Guidelines. Many of you signed up to participate in this work in Split but if you did not commit at the time/were not in attendance and would like to participate or would just like to confirm your interest now, please contact Erik Boot or Donna McDonald-McGinn, or send an email to website_editor(at) We are certain these too will be invaluable for patients and providers, and we very much hope to complete many of these papers prior to our next conference in 2024.

    We sincerely hope you are as excited about these Society milestones as we are, and we look forward to sharing our collective continued progress moving forward.
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