February 2017 Newsletter

 


Simons VIP Connect February Newsletter


 

Researchers are Using the Data YOU Provided

How were Simons VIP data requested in 2016?

All of the information you provide, from survey answers to biospecimen samples, are accessible to researchers with approved protocols through SFARI (Simons Foundation Autism Research Initiative). In the past year, Simons VIP data was requested by 10 different researchers a total of 11 times. The requests were for biospecimen, genetic, and imaging data from 13 data sets:

Biospecimen: fibroblast (2), chloroplast DNA, iPS Cells, whole blood DNA

Genetic: genotyping data (2), whole exome sequencing (3)

Imaging: EEG (2), MRI (1)

 

How much data was added to SFARI for researchers to access in the past year?

New Simons VIP data were added to SFARI Base in November. Some of the highlights of this data release include:

 


Simons VIP Goes Global

Last winter, Simons VIP coordinated and successfully received our first international blood samples for research! This has included families in Europe, as well as all the way down under in Australia! We will continue to work with families internationally to get these samples. If you are not living in the US, speak English, and want to provide a blood or saliva sample for research, please let us know! In the meantime, we will continue to work through our list of international families and reach out to those who have agreed to provide a sample.

Simons VIP would like to thank all our international families for their dedication to the Simons VIP Connect study!

 


 

16p11.2 Family Meeting Planning

Interested in being part of planning the next 16p11.2 family meeting? Simons VIP is not involved in the planning process but has created a Facebook group specifically for families to discuss the details for the next meeting for 16p11.2 deletion and duplication families. If you are interested in contributing ideas or help to the planning committee, please check out the group at the following link:

https://www.facebook.com/groups/16pFamilyMtgPlanning/

 


 

Social Media Survey

How do you use social media?

We want to better understand how you use social media and how social media might help you learn more about your or your family member’s genetic diagnosis or genetic testing. Your anonymous responses will be used to help Simons VIP Connect and other patient groups better understand how individuals and families are using social media. This new survey asks less than 15 questions and takes less than 20 minutes to complete. The deadline for completion is March 10th.

If you are interested in participating, click on the following link: http://bit.ly/Genetics_Social_Media

If you have any questions about Simons VIP Connect or this survey, please contact the study coordinators at 855-329-5638 or email This email address is being protected from spambots. You need JavaScript enabled to view it..

 


 

February 24th: SCN2A International Awareness Day

Know someone with SCN2A? Raise awareness for this genetic diagnosis on February 24th along with the FamilieSCN2A Foundation. Read about ways to support the foundation and celebrate with them at: http://www.scn2a.org/awareness-day

“SCN2a Awareness Day will help us accomplish the FamilieSCN2a Foundation mission. Our mission is to coordinate and collaborate with researchers around the world to find the cause of and cure for SCN2a mutations. In addition, we hope to raise public awareness about the severity and prevalence of this rare form of epilepsy, aid in the early detection and correct treatment of this disease, support our International database on all SCN2a patients, and provide educational and emotional support for patients and families. Our goal is to find a cure for our children.”

 


 

FamilieSCN2a 2nd Annual Color for a Cure Family 5K

The FamilieSCN2a Foundation will be holding their annual Color for a Cure 5K at Middletown Community Park in Middletown, MD on Saturday, April 29th. This event will raise awareness and funds for the foundation and SCN2A genetic changes.

Visit http://www.firstgiving.com/FamilieSCN2A/ColorForACure5Kto register for the run and check out the details below:

  • Where:

Middletown Community Park
7628 Coblentz Road
Middletown, MD 21769

 

  • When:

Saturday, April 29, 2017
8:30am: Registration/Packet Pick-Up
10:00am: Run/Walk begins
10:45am: Color SCN2a Celebration...

 

  • Donation:

Pre-Registered: $35*
Day-Of Registration: $40**
*Note: Online registration will close at Noon on Wednesday 4/26/2017
**Limited T-Shirt sizing and Race Kits will be available for Day of Registration

 


 

Research Registration Influx!

Simons VIP has been busy working on recruitment, specifically through posts in the Simons VIP Facebook page and the affiliated Facebook groups for single gene families. The response to these posts, which listed the current number of registrants in each genetic change, was significant with 31 new families registering from 1/20/17 – 1/31/17! Here’s the breakdown:

  • 31 new family registrations
    • 2 16p
    • 1 1q
    • 2 unknown
    • 26 single gene
      • 10 STXBP1
      • 3 MED13L
      • 3 GRIN2B
      • 3 CTNNB1
      • 2 SCN2A
      • 1 ARID1B
      • 1 ADNP
      • 1 ANKRD11
      • 1 SETD5
      • 1 FOXP1
  • 11 lab reports received
  • 17 introductory phone calls completed

 

***Compared to 1/1 - 1/19

  • 16 new family registrations
  • 6 lab reports received
  • 5 introductory phone calls completed

 

The graphs below depict how registration has increased in our single gene groups in the past six months:


 


 

New Webinars

The Simons VIP Team periodically updates the study’s Youtube page with webinars of various topics related to autism and developmental delay or the genetic changes we study.

Dealing with Challenging Behaviors

Simons VIP investigator, Dr. Cora Taylor, recently completed a webinar discussing methods of dealing with the challenging behaviors families may encounter. Although this presentation was a part of the HIVEP2 virtual family meeting, the information and advice Dr. Taylor offers may be of interest to all Simons VIP families. She discusses the topics of how we think about behavior and how we can try to influence changing those behaviors. Dr. Taylor highlights behavior-influencing strategies that set your child up for success and that have been effective in children who have neurodevelopmental disorders. Follow the link to watch the full presentation:

https://www.youtube.com/watch?v=NBhdIutpMZ0&t=602s

 

 

 

"Adulting": Effectively Preparing Individuals with ASD

SPARK (Simons Foundation Powering Autism Research for Knowledge) coordinated this webinar, presented by Mary E. McDonald* Ph.D., BCBA-D, LBA, about the transition from adolescence to adulthood for individuals with autism spectrum disorders. Specific areas of concern that Dr. McDonald discussed included: skill selection, fading of systems, prompt dependency, schedules of reinforcement, behavioral support, and dependency on 1:1 instruction. More information on the webinar and a link to the video can be found here:

https://sparkforautism.org/portal/dashboard_webinararticle/adulting-effectively-preparing-individuals-with-asd/

*Dr. McDonald is an associate professor in the Department of Specialized Education at Hofstra University and interim associate executive director of Long Island Programs for Eden II/Genesis.

 


 

 

 

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