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OCNDS Census: The OCNDS census, led by the CSNK2A1 Foundation, is an important effort to accurately count how many people are affected by OCNDS worldwide. We conduct an OCNDS census by asking families to register with the foundation through our contact registry. We count the families newly registered with the Foundation every quarter to update the census. This census is special because our contact registry is one of a kind, as it keeps track of those with OCNDS, even if they speak different languages. This isn’t being done anywhere else.

Why a census? The idea for this census came about because there's a big gap in the information we have about OCNDS. We are always asked: How many individuals have been diagnosed with OCNDS? The literature doesn’t represent all the families struggling with OCNDS, and we want to give a better picture of how many people are being diagnosed worldwide. This isn’t a perfect system, as we know many other families that haven’t registered with the foundation for various reasons; however, this census gives us a better idea of how many people have OCNDS worldwide. 

Why are the census numbers so low when experts believe OCNDS affects thousands? The low census numbers for OCNDS might seem puzzling, especially when experts think that thousands of people could be affected by it. One major reason for this discrepancy is that OCNDS is a rare genetic condition, which means it's not very common. There are over 10,000 rare diseases. Sometimes, doctors do not know about all rare conditions, so they might not recognize the symptoms right away or even make a correct diagnosis. Additionally, many people might not realize that they have OCNDS, especially if their symptoms are mild or if they haven't received a genetic diagnosis. Some families might not have been able to access the necessary genetic testing or might not have been aware of the condition until recently. These factors contribute to the lower numbers in the census.



It's important to spread awareness about OCNDS and encourage families to get genetic testing if they suspect OCNDS so that the true number of affected individuals can be better understood, and more people can receive the right diagnosis and care. Probably Genetic offers free genetic testing to those who qualify. Learn more here.

This figure from Unni et. al., Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases, shows a protein diagram including the location of some CSNK2A1 variants. The foundation is working on making a similar figure that includes all the variants in our registry.