Our trusted research partner, Simons Searchlight, is an online international research program funded by the Simons Foundation Autism Research Initiative (SFARI). A long-standing platform for 14+ years, their primary focus is collecting natural history registry data from families with specific genetic changes associated with neurodevelopmental disorders, including autism, seizures, developmental delays, ADHD, and more. Currently, Simons Searchlight collects family, medical, developmental, and behavioral information through online surveys and phone interviews with families and individuals.
Understanding
Okur-Chung Neurodevelopmental Syndrome
Natural History Study
What are the goals of Simons Searchlight?
Our mission is to shed light on these conditions by collecting high quality natural history data and building strong partnerships between researchers, industry and families.
Collect detailed medical and behavioral histories along with blood samples
Synthesize the information you provide and share results back to families
Freely share data and sample with qualified researchers
Connect researchers and participants from around the world
Promote better understanding of these genetic changes
We highly encourage our community to register with Simons Searchlight to participate in the Simons Searchlight long-term natural history study. By participating in the Simons Searchlight study, we can improve our community’s understanding of OCNDS.
How to participate?
STEP 1
Sign up online
STEP 2
Provide your genetic lab report
STEP 3
Share your important medical history
STEP 4
Fill out surveys
STEP 5
Provide a blood sample if you are interested
STEP 6
Update us every year
Have you ever wondered:
- "What happens in adulthood for those living with OCNDS?"
- “How many individuals with OCNDS have autism or autism behavior traits?”
- “What is the average age that someone with OCNDS speaks?"
- "How many individuals with OCNDS have epilepsy?"
- "What do they do to manage their epilepsy?"
These are great questions which can't be answered unless individuals and their families participate in the OCNDS natural history study. Knowledge is power! On Sunday, March 14, 2021, we had a Question & Answer session with CSNK2A1 Foundation and Simons Searchlight about our natural history study. You can learn more about the types of questions asked on the Simons Searchlight website.
What do we know about OCNDS from Simon’s Searchlight?
Simon’s delivers quarterly reports to the foundation with updated data. Here is an example of the summary data from August 2023:
Simons Searchlight Registry Update CSNK2A1 (OCNDS)
Data in these four graphs are from the medical history phone interviews collected in Simons Searchlight from 56 participants with CSNK2A1 (Okur-Chung Neurodevelopmental Syndrome).
Ages in Years
Graph shows the different ages represented by groups: ages 0-4 (11 individuals), ages 5-9 (21 individuals), ages 10-14 (12 individuals), ages 15-19 (8 individuals), ages 20-24 (2 individuals), and ages 25+ (2 individuals).
Developmental and Behavioral Conditions
Graph shows different developmental and behavioral conditions experienced by individuals with OCNDS: ADHD (10 individuals), anxiety (9 individuals), autism (14 individuals), intellectual disability or developmental delay (51 individuals), and language delay or impairment (56 individuals).
Neurological Conditions
Graph shows different neurological conditions experienced by individuals with OCNDS: tic disorder (3 individuals), small head size (13 individuals), seizures (14 individuals), movement disorder (11 individuals), low muscle tone (41 individuals), large head size (1 individual), high muscle tone (2 individuals), cortical visual impairment (2 individuals), coordination problems (6 individuals), and cerebral palsy (2 individuals).
Gastrointestinal Conditions
Graph shows different gastrointestinal conditions experienced by individuals with OCNDS: celiac disease (1 individual), constipation (32 individuals), diarrhea (4 individuals), GERD (12 individuals), and other (4 individuals).
You can also watch this video where Dr. Wendy Chung explains why it is important for OCNDS families to participate.
Additional Informational Videos
The Impact of Participation and Data in Genetic Research
Researchers Using Simons Searchlight Data
If you have any questions and would like to talk with a member of our community who is participating in the Simon’s Searchlight, please contact us and we will put you in contact with a community member to talk with about their experience. You can view testimonials from OCNDS families here.