10 - Guidebook


Dear Simons VIP Connect Families,

After five years of collecting information about the features of individuals with 16p11.2 deletions across all ages, and several months of development, we are proud to share our free-to-download 16p11.2 Deletion Syndrome Guidebook! This new resource covers important topics, relevant to both recently diagnosed families and families who have older children, including:

  • The genetics of 16p11.2
  • Common features associated with this genetic change
  • Suggested evaluations following diagnosis
  • Management recommendations
  • Other resources

Since 2010, Simons VIP Connect has been working with families who were given this genetic diagnosis, back when we knew nothing more than “it’s probably related to autism.” Families involved in Simons VIP have spent countless hours being evaluated and submitting yearly updates about their child’s behavior, personality, learning abilities, and other health concerns. Starting with just a handful of families, our community and project has grown to include a few hundred 16p deletion families from all over the world--and we’re still growing! Through this project, we’ve learned:

  • Children with the deletion can be very different from one another, but also have some similar characteristics.
  • Only about 25% of people with a 16p11.2 deletion have a diagnosis of autism.
  • Almost all people with the deletion, including adults, will have some features of autism, such as difficulty with social interactions.
  • There are specific speech and language differences that are typical of the deletion, but perhaps not as common in other children who have language delay related to other genetic diagnoses.
  • And much more!

This guidebook serves as one example of why we think it’s important to share your information. This project would not be possible without the incredible contributions from the Simons VIP Connect families; you are the experts about your children! The more we can learn about how children with the same genetic diagnosis grow, develop, and learn, the better we’ll be able to tell you what might be an expectation for the future.

Similar resources are being developed for the 16p11.2 duplication, 1q21.1 deletion and 1q21.1 duplication; and as we learn more from the single gene families participating in Simons VIP, we will work on sharing that information back as well.

Thank you again for all the work you have done to help improve what we know about 16p11.2 deletions; and a big thank you is extended to Elly Brokamp, our 2015 summer genetic counseling intern from Sarah Lawrence College, for developing this wonderful resource.

All the best,
The Simons VIP Study Team



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