Holiday 2016 Newsletter

 

Simons VIP Connect Holiday Newsletter

Data Release for SCN2A and Other Single Genes

Simons VIP is excited to announce that an updated data release was made available to researchers this week! In addition to providing more information from families with 16p11.2 and 1q21.1 deletions and duplications, SCN2A and GRIN2B, data from two new single genes – ADNP and HIVEP2 – were also included!

See the table below for more information about how many families’ and individuals’ data has been included in this update.

 

16p11.2 Deletion

16p11.2 Duplication

1q21.1 Deletion

1q21.1 Duplication

SCN2A

GRIN2B

ADNP

HIVEP2

# Families

81

30

19

7

34

14

6

5

# Individuals

91

54

26

15

37

17

6

5

% Male

54%

54%

62%

53%

59%

59%

67%

40%

% Female

46%

46%

38%

47%

41%

41%

33%

60%

% Inherited

14%

65%

50%

40%

11%

12%

0%

0%

% de novo

47%

11%

15%

7%

70%

76%

100%

100%

% unknown inheritance

35%

24%

35%

53%

19%

12%

0%

0%

If you have not completed your participation in the Simons VIP study and are interested in learning more or discussing next steps, please contact the study coordinator – This email address is being protected from spambots. You need JavaScript enabled to view it./ 855-329-5638.

 

Individual Results Available

We are excited to announce that new individual results for families participating in the online Simons VIP research study should now be generating and posting to your account within 1-2 weeks after you complete the surveys listed below.

Which results are available?

  • The Child Behavior Checklist (CBCL): a survey of emotional and behavioral concerns in children

  • The SRS-2 School Age: a survey of social and other behavioral concerns in children

  • The Social Communication Questionnaire (SCQ): a survey of social, communication and other behavior concerns in children

  • The Vineland Adaptive Behavior Scales-II: an interview that assesses everyday skills across communication, socialization, daily living and (in young children) motor skills

Where can I find these results? To review your child(ren)’s Individual Result(s), log in to your account, select your child from your Family Dashboard, and look under their “Documents” section (please see below for an example). You will be able to download the report from there.

 

Reading the graphs: Before you review the individual result(s), we strongly encourageyou to watch the following webinar (https://www.youtube.com/watch?v=7rSnFM0uZDwto) to help you understand how to read the graphs included in the result(s).

Why doesn’t my child have results? For some children, we are not yet able to share results because there are not yet enough other participating children in their age group with their genetic diagnosis. As more families who share your child’s genetic diagnosis participate, we will be able to share results specific to those individuals.

Please do not hesitate to This email address is being protected from spambots. You need JavaScript enabled to view it. with any questions or concerns!

 

Holiday Checklist

The Autism Society of the United States is helping to get families ready for the upcoming holiday season. They have provided families with 12 tips to help families prepare for holiday festivities which may stress individuals with autism or developmental delay because of the change in daily routines. The simplified list is given below, but check out the in-depth list at: http://www.autism-society.org/holiday-tips/

  1. Preparation is crucial for many individuals.
  2. Decorations around the house may be disruptive for some.
  3. If a person with autism has a difficulty with change, you may want to gradually decorate the house.
  4. If a person with autism begins to obsess about a particular gift or item they want, it may be helpful to be specific and direct about the number of times they can mention the gift.
  5. Teach them how to leave a situation and/or how to access support when an event becomes overwhelming.
  6. If you are traveling for the holidays, make sure you have their favorite foods, books, or toys available.
  7. Know your loved one with autism and how much noise and activity they can tolerate.
  8. Prepare a photo album in advance of the relatives and other guests who will be visiting during the holidays.
  9. Practice opening gifts, taking turns and waiting for others, and giving gifts. Role play scenarios with your child in preparation for him/her getting a gift they do not want.
  10. Prepare family members for strategies to use to minimize anxiety or behavioral incidents, and to enhance participation.
  11. If the person with autism is on a special diet, make sure there is food available that he/she can eat.
  12. Above all, know your loved one with autism and enjoy the holiday season!
 

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 about less than 20 minutes to complete.

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..

 

Updated 16p11.2 Deletion and Duplication Guidebooks

We recently updated the 16p11.2 deletion and duplication guidebooks. We received helpful feedback about our inheritance diagram in each book, and have updated those to clarify the chance for a parent to pass on a deletion or duplication to his or her children.

In addition, we’ve updated the 16p11.2 deletion guidebook to include new management guidelines, which were updated in December 2015. Updates include:

  1. Monitoring for headache (especially occipital), neck pain, and other symptoms of brain stem or spinal cord dysfunction that could indicate Chiari malformations/cerebellar ectopia, and neurologic consultation and brain MRI if indicated (clarified reasons to consider MRI)
  2. Clinical screening for scoliosis until the age of skeletal maturity (clarified age for screening)
  3. Annual evaluation and monitoring of hearing in first three years of life (clarified age for screening)
  4. Periodic reevaluation by a medical geneticist to apprise the family of new developments and/or recommendations and facilitate long-term monitoring for emerging medical or mental health concerns (new recommendation for continued surveillance by a genetics provider)

Click on the images to check out the updated guidebook pdfs!

Website Updates

Over the past few months we’ve been updating the Simons VIP webpage by adding new resources. Here are some of our most recent additions:

New Research Article Summaries

Gene

Number of New Summaries

Authors (Year published)

AHDC1

2

· Yang et al (2015)

· Xia et al (2014)

ANKRD11

1

· Low et al (2016)

BCL11A

3

· Basak et al (2015)

· Balci et al (2015)

· Peter et al (2014)

CHAMP1

2

· Isidor et al (2016)

· Hempel et al (2015)

CHD8

1

· Stolerman et al (2016)

CTBP1

1

· Beck et al (2016)

DDX3X

1

· Blok et al (2015)

DYRK1A

1

· van Bon et al (2016)

GRIN2B

2

· Mishra et al (2016)

· Freunscht et al (2013)

HIVEP2

2

· Steinfeld et al (2016)

· Srivastava et al (2015)

HNRNPH2

1

· Bain et al (2016)

KAT6A

3

· Millan et al (2016)

· Tham et al (2015)

· Arboleda et al (2015)

POGZ

3

· Stessman et al (2016)

· White et al (2016)

· Ye et al (2015)

PPP2R5D

1

· Houge et al (2015)

PTCHD1

3

· Torrico et al (2015)

· Chaudhry et al (2014)

· Aldridge et al (2011)

SCN2A

2

· Allen et al (2015)

· Tavassoli et al (2014)

SETD5

1

· Kuechler et al (2015)

STXBP1

5

· Stamberger et al (2016)

· Gburek-Augustat et al (2016)

· Carvill et al (2014)

· Hamdan et al (2011)

· Hamdan et al (2009)

SYNGAP1

3

· Jeybalan and Clement (2016)

· Parker et al (2015)

· O’Roak (2014)

Webinars

  • Website Upgrade Instructional Videos: As we announced over the summer, the Simons VIP connect website was recently upgraded. We’ve put together a series of webinars to help you navigate the new website, with topics including registration, consenting for research, resetting your password and many more! Follow the link to access all of the instructional videos: https://www.youtube.com/playlist?list=PLCCQtjvUGWRJRY5NiHHrku169Iv2YDTRi

  • Toilet Training Webinar: Dr. Mendy Minjarez, a licensed psychologist, discusses detailed information about toilet training for individuals with developmental disabilities, including autism. This presentation begins by focusing on toileting readiness skills and factors that may interfere with learning, and then provides detailed information about an applied behavior analysis based intervention for toilet-training (habit-training). Helpful tips, common pitfalls, and nighttime toile- training are also briefly addressed. The viewer can expect to gain enough understanding of the habit-training procedures and the related content in order to implement the intervention. The full webinar can be found here: https://www.youtube.com/watch?v=blaNjVsW23g

  • HIVEP2 Virtual Family Meeting Presentations: Simons VIP investigators, Dr. Wendy Chung and Dr. Cora Taylor, recently held a virtual meeting with HIVEP2 families. Dr. Chung summarized the current research surrounding HIVEP2 genetic changes and Dr. Taylor discussed methods of dealing with the challenging behaviors families may encounter; a presentation that may be of interest to all Simons VIP families. They also held a Q&A session after the presentations. The playlist of videos from the virtual family meeting can be found here: https://www.youtube.com/playlist?list=PLCCQtjvUGWRKcG1L9zpxwLe3TdNi-Dk7G

 

Research Opportunities

16p11.2 Deletion Families:

Learning About Learning in People with 16p11.2 Deletions

Researchers at Columbia University Medical Center are exploring how persons with 16p11.2 deletions learn about the world around them, since they may learn differently compared with those without the deletion. At last summer's Simons VIP Family Meeting, the research team worked with many families whose children with 16p11.2 deletions played laptop computer games designed to provide insights into how they learn.Early results suggest that people with 16p11.2 deletions may differ in "learning style", compared with those without the deletion, in how they take in and process information, particularly involving patterns and categories. To understand those differences more deeply, and potentially find better ways to help individuals with 16p11.2 deletion learn more effectively, more test data is needed. For families who would like to participate in this study, we will arrange testing at a location convenient to you. The testing involves playing computer games, takes less than an hour, and is open to individuals age 8 years or older.Important: Columbia University Medical Center IRB Protocol: AAAO2357.
  • Principal Investigators: Ning Qian PhD, Wendy Chung MD PhD, Richard Lipkin.
  • Address: Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, Suite 620, NY, NY 10032.
  • Contacts: Richard Lipkin (This email address is being protected from spambots. You need JavaScript enabled to view it.; 646-228-2566); Ning Qian (This email address is being protected from spambots. You need JavaScript enabled to view it.; 646-774-7371); Wendy Chung (This email address is being protected from spambots. You need JavaScript enabled to view it.; 212-851-5313).
  • Research Purpose: To understand better the learning styles of persons with 16p11.2 deletions.
  • Tasks: Perform learning tasks on a laptop computer.
  • Eligibility: Children (ages 8-17) and Adults (ages 18-65) with 16p11.2 deletions.
  • Participation Benefits: To help understand better how people with 16p11.2 learn; no direct individual treatment or benefit; no cost or compensation to participate.
  • Time Involved: Less than one hour.
  • Locations: Columbia University Medical Center or a location convenient to you.

 

PTEN Families:

Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations

This study is enrolling individuals between the ages of 3 and 21 years old with PTEN hamartoma tumor syndrome for a new study. The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder.

Where is this study taking place? Boston Children’s Hospital, Cleveland Clinic, University of California at Los Angeles, Stanford University Medical Center

Who are the Principal Investigators? Mustafa Sahin, MD, PhD (Boston), Charis Eng, MD, PhD (Cleveland), Julian Martinez, MD, PhD (Los Angeles), Antonio Hardan, MD (Stanford)

Who is eligible to participate? Individuals between the ages of 3 and 21 years are eligible to participate if they have been diagnosed with PTEN hamartoma tumor syndrome or autism spectrum disorder with macrocephaly.

What will we do? The study involves five visits over a two-year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include a blood draw, physical/neurological exams and behavioral testing.

What is the time commitment/cost to participate? There is no fee to participate in this study, and there will be no financial compensation for participation in this study.

What results are provided? Summary score reports of behavioral testing will be provided.

Contact Information

If you are interested in learning more about this study, please contact Meghan Dean atThis email address is being protected from spambots. You need JavaScript enabled to view it. or 617-919-3499.

 



 

 

 

 

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