09/20/2026
A new paper just published with an updated review that highlights the complex symptomatology of ADNP syndrome.
As one of the contributing authors, I want families to understand that much of the information in this review is drawn from previously published data. Since those data were collected, hundreds of additional children have been diagnosed with ADNP syndrome—many with varying symptoms and levels of severity that are not yet represented in this or other review articles.
While this paper importantly emphasizes early diagnosis, comprehensive evaluations, and individualized treatment planning, it also highlights why we urgently need families to complete their information in our international patient registry. Without sufficiently complete and up-to-date registry data, we cannot publish a more accurate dataset reflecting the current ADNP population.
Updated registry data are also extremely valuable to scientists and researchers working to understand ADNP syndrome and develop potential treatments.
Our international ADNP patient registry has received Institutional Review Board (IRB) approval and is hosted on a secure medical registry platform used by many larger rare-disease organizations. The registry complies with applicable privacy protections and IRB requirements.
Please help us build a more complete and accurate picture of ADNP syndrome by completing and updating your family’s registry information. Every family’s data matters.
Please go to the “FAMILIES” section of our website to learn more!
www.CureADNP.org
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70288
ADNP-related Helsmoortel–Van der Aa syndrome (ADNP-related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity-dependent neuroprotect...
