People with 22q11.2 differences often experience unique ways of thinking, learning, and interacting with the world. A new international study helps us better understand how two types of 22q11.2 genetic variation, deletions and duplication, relate to thinking skills like memory, attention, and problem-solving.
This study was led by Professor Ruben Gur and an international team from the Genes to Mental Health Network (G2MH). The group includes experts in genetics, psychology, and brain science from top research centres across the US, Canada, the UK, Belgium, and the Netherlands. By working together, they created one of the largest and most detailed studies on 22q11.2 thinking styles, helping us better understand how to support people with these genetic differences. The research brings valuable insight into how we can better support learning and wellbeing for individuals with these genetic differences, at home, in school, and in the community.
What Is 22q11.2 Deletion or Duplication?
The 22q11.2 region is a small part of chromosome 22. Some people are born with:
- A deletion, where a small piece of this genetic material is missing
- A duplication, where the same piece is copied an extra time
These changes are called ‘copy number variants (CNVs)’. They are naturally occurring differences in how the brain and body develop. Both deletions and duplications can affect how people process information, communicate, and experience the world, but in different ways.
Who Was in the Study?
Researchers worked with over 760 children, teens, and adults from several Western countries with mainly European ancestry. Among them were:
- 396 people with a 22q11.2 deletion
- 77 people with a 22q11.2 duplication
- The remainder had a 16p11.2 deletion or duplication (but we won’t focus on those groups in this blog).
How Was the Study Done?
This large international study was designed to compare thinking styles in people with 22q11.2 deletions and duplications. All participants, aged 7 and up, completed the same one-hour computer-based thinking test, called the Penn CNB. It measured skills like memory, attention, and problem-solving.
To keep things fair:
- The tasks were carefully translated and reviewed across countries.
- People completed the test in person or remotely, with trained staff guiding them.
- Only participants with confirmed 22q11.2 differences were included.
- Researchers used quality checks to make sure the data was accurate and reliable.
Using the same approach for everyone, the study clearly showed how thinking may differ between 22q11.2 deletions and duplications.
What Did Participants Do?
Each person completed the ‘Penn Computerised Neurocognitive Battery’, a set of interactive tasks designed to explore different areas of thinking. This included:
- Remembering faces and locations
- Solving puzzles and identifying patterns
- Paying attention and staying focused
- Understanding emotions and facial expressions
- Reacting quickly with motor responses
Researchers then compared results between the 22q11.2 deletion and duplication groups (and also people with differences on chromosome 16) to understand common patterns and meaningful differences.
What Did the Study Find?
Everyone Thinks Differently—But Patterns Can Help Tailor Support
The patterns described below reflect group-level trends, showing what was common across many people in each group. However, every individual is unique, and these results may not apply to everyone with a 22q11.2 difference. Thinking styles and support needs can vary widely, even among people with the same genetic diagnosis.
- Overall, the 22q11.2 deletion group had lower intellectual functioning compared to the 22q11.2 duplication group.
- Average performance accuracy was lower in the 22q11.2 deletion group, compared to the 22q11.2 duplication group across tests, but especially in memory and non-verbal reasoning tasks.
- Speed was comparable for the two groups across tests, but in the nonverbal reasoning task, people with a 22q11.2 duplication tended to take more time, but their answers were more accurate. In addition, the group with the duplication was slower on motor speed.
- Looking at the distribution of the data in the groups, the 22q11.2 deletion group seemed to have more variability among participants in accuracy compared to the 22q11.2 duplication group. Particularly in attention, working memory and face identification
- Overall intellectual functioning was moderately related to accuracy on the tests.
What Does This Mean?
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Generally, people with 22q11.2 deletion struggle more with understanding, reasoning, and problem-solving (as measured by an IQ test) than people with 22q11.2 duplication syndrome.
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People with a 22q11.2 deletion got fewer correct answers overall on the tasks than those with a 22q11.2 duplication, especially on tasks that involved remembering faces and solving visual puzzles (non-verbal reasoning).
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Both groups took about the same amount of time to complete the tasks overall, but the 22q11.2 duplication group were slower (with better accuracy) on some tasks.
- When the researchers looked at how individual scores varied within each group, they found that people with a 22q11.2 deletion had a wider range of results; some did quite well, while others needed more support. In contrast, people with a 22q11.2 duplication had more similar scores to each other.
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In general, people who scored higher on these tasks also tended to have higher IQ scores, but it wasn’t a perfect match, some people did better or worse than their IQ score alone would suggest.
Why This Research Is Helpful
This study is one of the first to use the same cognitive assessment across hundreds of people with both types of 22q11.2 differences. It helps us understand that:
- Standard IQ scores don’t tell the whole story. This study shows how detailed cognitive testing can reveal important thinking patterns that might be missed otherwise.
- Recognise that processing speed and accuracy tell different stories
- Advocate for personalised supports based on each person’s strengths and needs
What Can Families Do?
If you or your child has a 22q11.2 deletion or duplication, this research highlights the value of:
- Person-centred assessments go beyond IQ to look at memory, attention, and social understanding
- Allowing extra time, some individuals need more time to process and respond
- Using visual supports, visual prompts, and reminders can reduce cognitive load
- Recognising strengths, like pattern recognition, emotional insight, or creative problem-solving
Final Thoughts
Everyone’s brain works differently. Understanding the unique cognitive style of people with 22q11.2 deletions or duplications can lead to better support, stronger connections, and greater confidence. We create spaces where everyone can thrive by focusing on strengths and making room for differences.
If you want to know more about cognitive tests and developmental assessments for people with 22q-related conditions, you might be interested in our On-Demand Webinar, Developmental, Intellectual, and Cognitive Assessments, available now in our shop.
The full paper is available here if you would like to read it: Gur, Ruben C., Carrie E. Bearden, Sebastien Jacquemont, Ann Swillen, Therese van Amelsvoort, Marianne van den Bree, Jacob Vorstman et al. “Neurocognitive profiles of 22q11. 2 and 16p11. 2 deletions and duplications.” Molecular Psychiatry 30, no. 2 (2025): 379-387.
You can also learn more about Cognition and 22q11.2 deletion syndrome in a MOOC developed by 22qEurope available on YouTube.
