11 - January Newsletter

Dear Family,

Thank for your continued participation. This month's newsletter will give you a closer view at how we've tried to streamline the study commitments, by updating our study measures, move forward with research samples, and improve our gift card awarding process. None of these changes would have come about without your feedback, so thank you ALL for being partners in this project.

Research Highlight - VIP Summary #9: The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals with Chromosome 16p11.2 Deletions

Original Article by Andres Moreno DeLuca, PhD and colleagues

Deletion 16p11.2 has been associated with a broad range of neurodevelopmental and neuropsychiatric diagnoses, including developmental delay, intellectual disability, autism, and schizophrenia, among others, raising important questions as to what accounts for the variability.

Many of the clinical features of genetic syndromes are influenced by the parental genetic background, and for some of these traits (cognitive ability, social behavior, height, head circumference, and body mass index), the best predictor of the outcome of an individual from the general population is the biparental mean value for such traits. This means that both parents impact the particular trait in a child. In genetics, we often think about a trait being inherited from a person’s mother OR father, but there are some traits where both parents influence the trait equally. A good example of this would be height: most people have a final adult height somewhere in-between their mother and father’s heights. We hypothesize that such parent-child relationships will be preserved in people with 16p11.2 deletions when considering other traits, such as cognitive ability.

In this study, we examined the cognitive (IQ), social, and motor profiles in 56 individuals with de novo deletions of chromosome 16p11.2 and their non-carrier parents and siblings. We found that the 16p11.2 deletion causes a detrimental effect across all domains. Individuals with the 16p11.2 deletion scored between 1.3 (neuromotor performance) to 2.2 (social behavior) standard deviations lower, when compared to the average score of their non-carrier parents. Interestingly, the parent-child scores showed significant correlations. In other words, the parental cognitive, behavioral, and motor abilities influence the level of functioning of their children with 16p11.2 deletions and may contribute to different clinical diagnoses.

For example, if two parents have higher-than-average IQs, their child with a 16p11.2 deletion will most likely have an IQ that is lower than either parent, but not necessarily low enough to fall within the intellectual disability range. Likewise, the IQ of a child with a 16p11.2 deletion whose parents have average IQs is also shifted downwards, but may be more likely fall within the intellectual disability range. Similarly, the social functioning of child with a 16p11.2 deletion whose parents have above-average social performance will most likely be lower that either parent, but not low enough to fall within the autism spectrum range. On the other hand, if two parents have slightly lower-than-average social abilities, their child with a 16p11.2 deletion will likely have a social functioning level lower than that of his/her parents and may be more likely to fall within the autism spectrum range.

In conclusion, parental cognitive, behavioral, and motor performance information may have important clinical utility (e.g., helping predict the child’s level of functioning) in guiding clinical geneticists, neurodevelopmental pediatricians, genetic counselors, and others as they work with families to better understand the developmental implications of a variety of specific genetic mutations. This type of information helps to explain why we see such a broad range of differences among families who have children with the deletion, but doesn’t tell us the whole story. Each child is unique, and while family background is a piece of the puzzle, it’s not the only piece of the puzzle we consider when trying to determine which resources will help each child achieve his or her greatest potential.

Reminder to 1q Famlies - Cramp Treatment Survey!

Families have let us know that they have concerns about more frequent muscle cramps occurring in their children with the 1q21.1 deletion. Through our previous survey about muscle cramps and spasms, we have learned that massage, stretching and over the counter medications have helped. Through our new survey (which you can take here: https://www.surveymonkey.com/r/9BV8CG6) we would like to hear more about whether any other specific treatments have been used and whether they were successful. Information that we learn will be shared back to the community to help other families. Please complete this survey for your children with the 1q21.1 deletion/duplication who have experienced muscle cramps. All responses will be kept confidential and will not be linked back to you. We appreciate your feedback!

'Phase 1' In-Person Evaluation Sites Closing; Transitioning to Online 'Phase 2' Study

The Simons VIP in-person evaluation teams from the University of Washington, Harvard University, Baylor College of Medicine, the University of California San Francisco, and the Children’s Hospital of Philadelphia would like to thank all Phase 1 study participants for their time and commitment to the study!

While the evaluation sites are now closed for in-person study evaluations, we would invite and encourage all families to continue participating by joining the online portion of the study. Participation involves annual updates through phone calls and online research surveys, and will help us continue to better understand these rare genetic changes! To learn more and to register, visit the website, www.simonsvipconnect.org, or contact the study coordinators, This email address is being protected from spambots. You need JavaScript enabled to view it. / 855-329-5638.

Survey Completion: Reduced Number of Measures

For families that have received notifications about online research surveys to complete: please log on to your account at www.simonsvipconnect.org. To see who in your family might have pending surveys, click the menu item “My Profile,” and then click each person’s name in the Family Dashboard. Incomplete or newly assigned surveys will be listed under each family member’s Survey & Account Details section.

We recently reduced the number of surveys to lessen the load on participating families. In general, the current assessment battery includes three to six surveys per person, each taking between 5 and 30 minutes to complete. For family members with a genetic change, you can expect to see about 6 initial surveys, instead of 10, and about 2 follow-up surveys instead of 6!

The following surveys are no longer required for completion; if these are still pending on your profile, you may decline them:

For child accounts:

  • CRI-R
  • Family Request ... TRF/CTRF
  • Family Request... Teacher SRS-2

For adult accounts:

  • ARI
  • Personality & LIfestyle

Gift cards are still awarded for completed surveys, typically being emailed to you in about 4-6 weeks following survey completion. (Read below for more details about our improved gift card process!)

UPDATE: Gift Cards for Simons VIP Research Families 

We’re happy to announce that we’ve improved our gift card process for Simons VIP research participants! Previously, gift cards were awarded after certain “checkpoints” in the research study were reached as a family completed different portions of the project – Now, as research participants work to complete the online research surveys and phone call assessments with a genetic counselor, any points earned toward gift cards will be tallied and awarded on a monthly basis! So if you’re a Simons VIP family participating in our research study, keep your eyes on your inbox as you complete all the parts of our research! (Remember: Some families have reported gift card messages being recognized as SPAM, so be sure to check your SPAM folder for messages from Amazon!) Feel free to contact the study coordinators if you have any questions!

Call for Samples!

We are excited to let you know that we have contracted with a new mobile phlebotomy company; we greatly appreciate your patience as we work through getting this set up! We know lots of families have pending blood draws, but in order to ensure a smooth process, we first need to confirm your information. Families who need blood draws for genetic testing and/or samples for research storage should have received an email in the last month regarding the blood draw and the details we need in order to move forward. Please verify:

  1. Current address and phone number.
  2. Specify which family members need genetic testing.
  3. Confirm which family members would like to provide a sample for research.

If we haven’t heard back from you, be on the lookout for our follow up email!


All the best,
The Simons VIP Study Team




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