Below is a summary for the DYRK1A gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with DYRK1A responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!
To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
What is DYRK1A-Related Syndrome?
DYRK1A-related syndrome happens when there are changes to the DYRK1A gene. These changes can keep the gene from working as it should.
The DYRK1A gene plays a key role in brain development. It is especially important for creating new brain cells and for updating connections among brain cells.
Because the DYRK1A gene is important in brain development, many people who have DYRK1A-related syndrome have:
- Intellectual disability
- Speech delay
- Motor difficulties
- Small head, also called microcephaly
- Feeding problems
- Vision problems
- Behavioral issues
Do people who have DYRK1A-related syndrome look different?
People who have DYRK1A-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Deep-set eyes that look hooded
- Narrow forehead
- Larger than average brow with high hairline
- Tube-shaped nose
- Larger than average nasal bridge
- Lower jaw set back from upper jaw
- Small chin
40% have autism and 70% have autism-like behaviors.
FEEDING and DIGESTION ISSUES
More than 90% of people who have the condition have feeding issues.
EYES and EYESIGHT
80% have vision problems.
Research Article Summaries
Previous Registry Reports