09 - November Newsletter


Dear Family,

We have some exciting updates for you with this month's "Updates from the Study Team." We're reporting back on latest research developments from us, and from the autism / neurodevelopmental community, projects in the pipeline, and general updates about the Simons VIP Connect community.

Research Update: Speech motor control may be altered in 16p11.2 deletions

By: Srikantan Nagarajan, Carly Demopoulos, Hardik Kothare, Danielle Miziuri, Elliott Sherr, and John Houde

At this year’s family meeting, Dr. Nagarajan’s group from University of California came to learn about speech and language differences in children with the 16p11.2 deletion. In particular, they studied “speech motor control.” Speech motor control refers to the brain's ability to control simplest things about your speech such as moving different parts of the mouth and your vocal folds to produced intended or desired sounds. The researcher’s group administered two different tests to measure the way kids hear sounds that they produce. These studies were called “Hearing” (Perturbation test) and “Vocalization” (Adaptation test). Fifteen individuals participated in each study.

Below, the research team shares background information about speech differences, and also some preliminary data collected at the family meeting.


Speech and communication differences can have a long-term impact on learning, development, and quality of life. Communication disorders are prevalent in 89% of individuals with Autism Spectrum Disorder (ASD), with 25% having little to no speech. Speech and motor differences also appear to be highly prevalent in people with deletions and duplications of 16p11.2, with several studies suggesting increased incidence of childhood apraxia of speech in this population. However, the etiologies (origin) of these differences both in ASD and in 16p11.2 carriers are unclear, thereby limiting our ability to advance treatments and therapies for these deficits. Our team set out to measure the etiology (origin) of certain types of speech and communication differences in children with the 16p11.2 deletion at the 2015 Family Meeting. We conducted two tests of sensitivity to auditory feedback during speaking in children with the deletion and in a “control” sibling. These tests made use of a device that can change the auditory feedback a subject hears as he/she speaks in real-time.

Speech and communication differences can be difficult or complicated to measure, as each sound you produce results from a careful orchestration of several processes to control the vocal tract. For example, to make a vowel sound, you must simultaneously produce voice at your larynx and hold your tongue and jaw in just the right shape. As you do this, you also hear yourself (auditory feedback), and if what you hear is not what you meant to say, you respond by correcting your speaking.

How the auditory feedback process is impacted in children with 16p11.2 deletions and ASD is poorly understood, and therefore, an improved understanding the role of auditory feedback in the control of speaking children with the 16p11.2 deletion may provide insight into one critical area of speech deficits. In turn, this may allow for the development of novel (new) therapies.

TEST 1, Hearing (Perturbation test): The first test, called a speech perturbation test, examined how quickly children changed their speech to correct for a brief perturbation (or “deviation from normal”) of their auditory feedback. In this test, kids change their vocal pitch to compensate for pitch feedback alterations. If the pitch were altered by one semi-tone (one key on a piano), then they will compensate by changing their pitch in a direction opposite to that of the alteration. Early results show that 16p11.2 deletion children made quite large compensatory responses, suggesting that they may be over-reliant on auditory feedback during speaking.

TEST 2, Vocalization (Adaptation test): The second test, called a speech adaptation test, examined how, over many trials, children learned to adapt their speech to compensate for a sustained change in their auditory feedback. In test, if we ask kids to say the word "bet" and we alter their feedback so that they hear the word "bid," what they will actually say after adaptation will sound like "bat." Early results suggest that 16p11.2 deletion children show reduced adaptation, suggesting that mechanisms for learning speech motor control are impaired in 16p11.2 deletions.

PRELIMINARY RESULTS: We were indeed surprised by the magnitude of differences that we observed in these elemental tasks that we are able to observe, even within this small group. Therefore, we believe that these results are potentially ground-breaking, and reveal what could be an important clue to understanding speech problems in children with this genetic diagnosis. Future brain imaging studies could shed valuable insights into the neurological underpinnings of these communication deficits in these subjects, which may ultimately lead to the development of novel therapies for remediation.

Where have we been?

The Simons VIP Connect team spent 4 days in Pittsburgh, PA, from October 21-24, to spread the word about Simons VIP Connect to thousands of genetic counselors from across the country.

We hosted a booth where we distributed information about the project, how we’ve grown, which genetic diagnosis we support, what we’ve learned, how we contribute to research, and most importantly, how to discuss the project with patients who might interested or eligible in joining our community. We also displayed the 16p and 1q infographics we posted last month, which seemed to attract quite a bit of attention from interested Genetic Counselors.

The event was a great success: The Simons VIP Connect project was mentioned in a presentation about why sharing data with a large, transparent, group like Simons VIP Connect is very important to improve our understanding of genetic variants.

In the past, small family support groups would often work with an individual researcher to collect phenotypic (medical and developmental history) information. While research would ultimately develop, the process could be slow, and important features could be missed if only one researcher has access to the data, and privately stores it.

At Simons VIP Connect, we understand how important it is to share data with interested researchers. Any information that your family shares through the Medical History Interview and the surveys you complete, is curated by our data team at Prometheus Research, then made available to interested researchers. With this method of sharing information appropriately (only the information the researcher needs) and sharing broadly (with multiple researchers working to understand the same condition), we can advance our understanding of genetic conditions much more quickly than even 5 to 10 years ago.

Autism Research: What is the Autism Sisters Project?

Since researchers have traditionally thought of autism as a disorder that mainly affects boys, past research has primarily focused on males with the condition. However, in more recent times there has been an increased effort to look more closely at gender differences in autism and how the condition affects females.

One such effort is the Autism Sisters Project, funded by the nonprofit organization Autism Science Foundation, which aims to identify the factors that seem to protect girls from developing autism by analyzing the genetics of unaffected sisters of people with autism.

While few projects have set out to specifically investigate differences in autism between males and females in the past (see chart below), the Autism Sisters Project is 1 of 11 studies this year aimed at answering the important questions related to the association between gender and autism, an encouraging sign of researchers’ shift of focus to examine topics in autism that have been previously under-explored.

To participate in the Autism Sisters Project at the Seaver Autism Center, call 212-241-0961 or email This email address is being protected from spambots. You need JavaScript enabled to view it..

Upcoming News! What's in the Pipeline at Simons VIP Connect?

  • Connecting with Other Families: This feature was under construction, but is now FIXED! This feature is now tailored to allow families with individual genetic changes to identify and connect with each other. Watch your email in the coming weeks to learn how to update your profile to allow others to contact you, if you haven't done this already.
    • For a head start, you can log on to your profile at www.simonsvipconnect.org.
    • Go to "My Profile" and choose "Yes" for "Allow Others to Contact Me."
  • 16p11.2 Deletion Guidebook: Our summer genetic counseling intern, Elly, worked to develop a comprehensive and thorough guide to understanding 16p11.2 deletions. We’d promised to have this out by the Fall, and we’re working hard to finalize our last edits from the experts.
    • We may be contacting your family to ask about including a photo from a past family meeting in this book.
    • In the future, we’ll be working to create similar guidebooks for 16p11.2 duplications, 1q21.1 deletions and duplications, and single gene families. We will keep you updated as these are in progress and released!
  • Simons VIP T-shirts ordered during September were shipped last week; if you ordered a shirt but have not yet received it, please send an email to us at This email address is being protected from spambots. You need JavaScript enabled to view it.with a forwarded copy of your receipt so we may ship your order.

  • Online Medical History Survey: Over the past several months, the Simons VIP Connect group has been working to develop an online survey version of the Medical History review so that families have a way to compare data. This is our way of sharing back with you! The survey is now in development with the web team, and we will notify you when this survey is available.
    • Because we cannot capture all of the necessary information in one online survey, we will still have families complete a follow up call with one of our study genetic counselors as part of our process to collect information.
    • For families that have already completed the medical history review, you can choose to go back and complete this new survey, so that you can compare your answers to detailed medical history questions ranging from birth length, to wearing glasses, to type of heart defect, to seizure history with responses from other families.


Thank you all for your continued participation! Together, we can make a difference.

All the best,
The Simons VIP Study Team



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