1/ #22q11DS is a rare genetic disorder. Due to the missing of a small piece of chromosome 22 (="deletion"), it can lead to a range of physical issues, most often affecting the heart, palate and immune system.

It can also impact the brain. How?
2/ The missing bit of chr22 contains amongst others instructions for the developing brain.

Imagine you are putting together an IKEA cabinet, but part of one page of the manual is missing.
3/ You'd be able to put it together, but likely with some difficulty. Maybe one of the doors doesn't close tightly, or a shelf is wobbly.
Likewise, 22q11DS can affect the development of the brain. This has consequences for the person with this genetic variant.
4/ Often they are slower at acquiring speech, and some continue to have language impairments. Learning difficulties are frequent, with some requiring daily living support as adults. They are also more vulnerable for psychiatric problems.
5/ Amongst others, attention problems (ADHD), difficulties in social communication & repetitive behaviors (Autism Spectrum) and Anxiety disorders are more prevalent in 22q11DS.
6/ Towards adulthood some develop #schizophrenia, a chronic mental health condition with often recurrent psychotic symptoms (e.g. hearing voices or having ideas that are not real).
In 22q11DS, 1 in 4 develops schizophrenia, compared to 1 in 100 in the general population..
7/ Learning issues require support and adjusting academic expectations to individual learning profiles. Mental balance is key. Cognitive testing provides the necessary insights. Good treatment options can help deal with the psychiatric problems too. But *most* importantly..
8/ Before anything else we should realize that:

I. we all have genetic variations, they contribute to our diversity & uniqueness *
II. Our learning abilities and mental health are *not* what defines us as human beings

* check this out:
9/ At the core of our humanity is our need to feel a valuable member of society, part of a community, someone's best friend. Our desire "to belong" is imprinted in our being and no missing piece of any chromosome can change that.
10/ So.. Happy #22q11Day to all my friends around the world, with #22q11DS, their sibs & parents, and all clinicians and researchers working together to improve health care & wellbeing for this group. It is such a privilege to know & work with each one of you. #22qawarenessdays
11/ For all professionals reading this - if you haven't done so already, please reach out to the 22qsociety.org and become a member. It is by joining our forces that we can make progress.

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More from @Jacob_Vorstman

9 Nov
1/X rdcu.be/b992F
We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to date.

Let us give you a quick 12-step tour of our findings.
2/X #22q11DS is a #RareDisease. In addition to a range of physical symptoms, patients are liable to neuropsychiatric conditions, including #schizophrenia (SZ) and #intellectualdisability (ID). However, manifestations are highly variable. Image: positiveexposure.org
3/X With the International 22q11 Brain and Behavior Consortium (IBBC), we examined the role of common genetic variation, summarized in a polygenic score (PS) in the context of the 22q11.2 deletion. @NIMHgov @WiringTheBrain @EricTopol @22qFoundation @UCLAHealth
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