Karen Chenausky, Ph.D., CCC-SLP is a speech therapist and speech scientist at the MGH Institute of Health Professions in Boston. She received her undergraduate degree in linguistics and philosophy from MIT and her master’s degree in speech pathology and Ph.D. in speech and hearing sciences from Boston University. Herresearch centers on understanding why so many children with neurodevelopmental disorders don’t learn to talk on their own, and how we can help them communicate better. She uses acoustic, kinematic, and “by ear” methods in her work, aiming for an enjoyable and respectful experience for children.

We interviewed Karen about her latest research projects and her collaboration with Simons Searchlight.

How did you first start collaborating with Simons Searchlight? 

I began collaborating with Simons Searchlight because of an email I received from them about the opportunity to meet children with different genetic variants at a conference and potentially collect data from them and their families.

How have you and your team used information collected from Simons Searchlight families in your projects?

The information we were able to collect from our first 15 participants is supporting a large grant application we’ll submit this spring to the Simons Foundation to study more children, with more conditions, over the course of about three years.

Being able to collect data in person at a conference showed us that it was feasible and yielded rich information, which we can use to understand how a specific genetic diagnosis affects development over time.

What type of data did your team use, and was it associated with a specific genetic change?

We collected information on speech production and on gross motor functioning (walking) from children with HIVEP2 and CSNK2A1 genetic variants.

Have you requested any biospecimens from the registry’s collection to use in your research and how have these samples been utilized?

We do not use biospecimens, but in the future we do hope to recruit participants through Simons Foundation Research Match.

How has using Simons Searchlight data aided in our understanding of the gene changes associated with autism and developmental delay?

The data we have collected show us how intimately motor and language skills are related to each other. This is important because motor skills can be assessed before language develops and may make it easier for us to identify children who are at risk for remaining minimally verbal before they miss speech milestones.

The fact that both general motor skills and speech motor skills are affected in many neurodevelopmental disorders can tell us a lot about what parts of the brain are affected by different gene changes.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study?

I like to think that being involved in registry studies is a benefit for both families and researchers! If families are willing to show us how their children try to communicate, even if they don’t communicate vocally, we can gain a lot of information about their skills using low-stress activities spread out over just a couple of hours.

The information we get from these “natural history” studies tells us how communication is affected over time in different genetic conditions. With this information, we can do several things: we can help newly diagnosed families know what to expect in terms of potential communication outcomes, we can support families’ requests for appropriate services for their children, and we have a baseline to measure future treatments against.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

My team and I loved attending the Simons Searchlight 2022 Family & Research Conference, and we hope to do this every year. Other Simons Searchlight researchers collect different kinds of data that we are not equipped to collect, such as imaging or EEG data, and we hope that our findings can be linked with theirs to yield even more insights.

What kind of research did you do at Simons Searchlight’s 2022 Baltimore Conference (HIVEP2, MED13L, SCN2A, CSNK2A1)? 

We collected speaking and walking information from children with HIVEP2 and CSNK2A1 variants.

What was the experience like for you? Do you have any highlights that you would like to share? 

The experience of meeting the families and children we worked with at the Baltimore conference was deeply emotional for me and my team. To hear their gratitude toward us for doing our research was absolutely fulfilling and surprising, as we felt we were the ones who should be grateful to them for participating! We hope we will see the same families this year and in years to come so that we can watch how the children grow and develop, and celebrate their achievements.

How has this experience impacted your research moving forward? 

Hearing families’ questions and concerns fuels my research projects. Seeing how families value the information that I can provide them gives me the confidence to apply for very competitive grants and work hard on their behalf to understand how we can maximize communication outcomes for children with neurodevelopmental disorders. Basically, being part of the Simons Searchlight conference cemented for me that I’m in the right work.