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What is ADNP?

     As we have set out on our journey to learn more about ADNP Syndrome we have been asked many questions that we just have answers to. ADNP Syndrome also known as Helsmoortel-VanDerAa Syndrome / HVDAS is an extremely rare neurodevelopmental disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene.
      Displaying Bella4.jpg
     The ADNP gene provides instructions for making a protein that helps control the activity (expression) of other genes through a process called chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. As part of the remodeling process, the ADNP protein attaches to DNA and interacts with groups of proteins called SWI/SNF complexes, which direct changes in the structure of chromatin.
     Displaying b9.jpg By regulating gene expression, the ADNP protein is involved in many aspects of development. It is particularly important for regulation of genes involved in normal brain development, and it likely controls the activity of genes that direct the development and function of other body systems. (https://ghr.nlm.nih.gov/gene/ADNP)
     At this point in time there is NO CURE or treatment approved by the FDA. In ADNP, there are many life threatening conditions including heart abnormalities, respiratory problems, sleep apnea, seizures and complications from surgeries and compromised immune systems that require treatment from relevant specialists, such as neurologists, cardiologists, and surgeons. 
    The list of complications reads like a what's what in the medical world. From neurological, heart, oral motor and speech, developmental, autism, hearing, vision, among many other complications. As an ADNP Parent we have more questions daily and have more answers than doctors are able to provide at this time. 

For more information on ADNP please visit ADNPKids at https://www.adnpkids.com/ Sandra has compiled a great page chalked full of information for us all. Please spread the word as what we do know about ADNP seems to always lead to more questions.   Picture

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