22Q11 Ireland

14/10/2026

14/10/2026

Working memory challenges look like different things to different people: https://www.theottoolbox.com/how-to-improve-working-memory/

14/10/2026

We have a new on-demand webinar available now - all you need to know about 22q and Sleep.

This weekend, join our live Q&A to ask questions and share experiences.

You don't need to be there for the live Q&A to learn about sleep. The on-demand recording is yours to keep, with subtitles in 12 languages (on request), so it fits around your week rather than the other way round.

Pick a time that works for you (please always double-check the time):

Dr Linda Campbell is hosting in Sydney at 12:00 PM AEDT (UTC+11) on Sunday the 11/10. Join us from Singapore at 9 AM, Perth at 9 AM, or Auckland at 2 AM, or from the USA on Saturday evening (San Diego 6 PM, Denver 7 PM or New York 9 PM) or any other place as long as the time works for you.

Dr Sasja Duijff is hosting in Amsterdam at 5:00 PM CEST (UTC+2) on Sunday, 11/10. Join us from London at 4PM, New York at 11 AM, Denver at 9 AM, and San Diego at 8 AM or any other place as long as the time works for you.

We'd love to see you there, live or later.

Follow us for more on 22q. We hope to see you there, Linda & Sasja

14/10/2026

I grow up, not out of

12/10/2026

Multicenter retrospective study on perceived effectiveness, reported side effects and cognitive outcomes of SSRI's in 22q11.2 deletion syndrome.

" These findings underscore the importance of early screening for anxiety, mood, and ADHD symptoms to enable timely intervention that may support cognitive development and reduce multimorbid psychiatric risks."

22q11.2 deletion syndrome (22q11DS) markedly increases risk of psychiatric disorders, including anxiety and mood disorders, and is associated with a spectrum of cognitive impairment, from borderline functioning to intellectual disability, with cognitive decline frequently reported. Despite widesprea...

11/10/2026

Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome

Semicircular canal, ossicular, vestibular aqueduct, and vestibular anomalies were detected in children with 22q11DS, especially in the setting of hearing loss. Careful evaluation of anatomic anomalies is needed prior to surgical intervention in these patients.

09/10/2026

Parental disclosure of a 22q11.2 deletion syndrome (22q11DS) diagnosis to an affected child is a complex process influenced heavily by the family's initial diagnosis experience, the child's cognitive capacity, and the availability of professional guidance. While most children with 22q11DS possess an IQ that allows them to understand their genetic diagnosis despite mild intellectual disabilities, parents consistently face significant barriers in communicating this information. For clinicians, this underscores a critical responsibility to move beyond initial molecular and physical management and actively prepare families for the long-term journey of genetic disclosure.
Enter the wonderful Ann Swillen and The Genetic Puzzle -developed exactly for the reasons outlined above. Here at 22Q11 Ireland we are beyond thrilled to have Ann visit us Feb 2027 to share her knowledge and 22q insights after her many years of working directly with families.

The Leuven remedial educationalist Ann Swillen developed Piecing the puzzle together, an interactive information package for children with a rare genetic disorder. The object is primarily to stimulate the children, as well as the parents, brothers and sisters, to talk openly about the complex diseas...

09/10/2026

There was a time you couldn't pronounce it. Now you spell it out for the receptionist before they ask.

Somewhere along the way you learned which specialist needs which letter. How to explain the diagnosis to a new teacher in one breath. What to bring, what to ask, what to write down.

Nobody handed you a manual. You built one, an appointment at a time.

That knowledge counts. It's part of what you bring to your child, and to every family who finds this path after you.

What's one thing you've become the expert on that you never expected to?

08/10/2026

The third time you've gone back into that room tonight. You're not frustrated with her. You're just tired in a way that sleep itself won't fix, because you're the one managing the getting there.

Bedtime battles in 22q are rarely about defiance. They're often anxiety, sensory discomfort, or a nervous system that hasn't downshifted yet, showing up at the one point in the day when everyone's capacity is lowest.

If this is familiar, Better Sleep, Better Days is available now on-demand. Subtitles in 12 languages are available on request.

You can also join us live this Sunday for a Q&A. See link in the comments.

Follow us for more on 22q.

06/10/2026

ERN's are virtual cross-border platforms that aim to connect highly specialised healthcare providers across Europe to diagnose and treat rare, low prevelance and complex diseases.
22q11.2 deletion syndrome along with several other neuro developmental conditions falls under ERN ITHACA.
Prof Sally Ann Lynch, a prominent clinical geneticist from Children's Health Ireland is the ERN ITHACA Network Coordinator.
Oral health is a 'common' symptom of these individually rare collectively common NDDs it's good to see it covered in this new webinar.

Join leading experts and a parent advocate to discuss key aspects o...