Marissa Mitchel, M.S., CCC-SLP is a pediatric speech-language pathologist and researcher at the Geisinger Autism & Developmental Medicine Institute (ADMI). Mitchel’s clinical specialty is augmentative and alternative communication for children with limited speech. Her research interests focus on the genetic architecture of motor speech disorders and the characterization of speech and language skills in children with rare genetic conditions. She received a B.A. degree in psychology and linguistics from Macalester College and an M.S. degree in communication sciences and disorders from Penn State University.

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

How did you first start collaborating with Simons Searchlight? 

I first became involved with Simons Searchlight in 2013 (then Simons VIP) when asked to present a webinar on speech sound disorders for patients and families enrolled in research. Since that time, I have given several presentations on topics ranging from motor speech disorders to augmentative and alternative communication.

When my son was diagnosed with NRXN1-related disorder in 2021, my family also became involved with Simons Searchlight as research participants. I now serve on the Community Advisory Committee in that capacity.

I’ve collaborated with other researchers at ADMI on Simons Searchlight projects, including the updated 16p11.2 deletion Gene Review that was published last year. The 2022 Family & Research Conference in Baltimore was my first time attending a Simons Searchlight conference as a researcher, studying the speech and language characteristics of people with MED13L variants.

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

Our research team at ADMI has used behavioral phenotype data from many groups of Simons Searchlight participants, including those with 16p11.2 deletions and duplications, 17q12 deletions, and most recently, MED13L variants.

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

Our team has used behavioral data associated with many different genetic disorders studied by Simons Searchlight. This includes direct measures and standardized caregiver checklists pertaining to adaptive skills, language, social responsiveness, and cognition.

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

We have not used biospecimens, as our research program at ADMI is focused on the neurodevelopmental aspects of genetic disorders.

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

The large repository of data that’s been curated by Simons Searchlight provides invaluable insight into the unique behavioral and developmental profiles associated with specific gene changes. This information helps doctors to better tailor treatments and therapies for individuals with specific genetic disorders.

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

I believe strongly, both as a researcher and as a parent of a child with a rare genetic disorder, that families are fundamental in driving scientific and medical advances forward. Without the generous participation of families, our knowledge of rare gene changes would stagnate and there would be few, if any, new treatments or therapies for our children in the future.

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

I have a particular research interest in pediatric motor speech disorders, such as childhood apraxia of speech and the dysarthrias, which are rare in the general population but occur frequently among people with specific genetic changes. I hope to continue to collaborate with Simons Searchlight to better describe the speech and language phenotype of people with rare genetic disorders.

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

My colleague, Cora Taylor, Ph.D., and I had the opportunity to meet with many families and children with MED13L variants. In order to study speech, language, and cognitive skills, we used standardized and dynamic measures, with a particular focus on children’s articulation of speech sounds and their visual-motor skills.

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

From a research standpoint, the conference was a great success for our team. In the course of typical clinical work, I may meet two or three children with MED13L variants over many years. The conference provided a rare opportunity to get to know well over a dozen children with the same gene change in just a few days. The information we were able to collect will be vital to our understanding of how MED13L affects speech production, learning, and motor skills.

From a personal standpoint, I found it incredibly rewarding to meet so many families from all over the world and from all walks of life. I enjoyed my time getting to know everyone and am so thankful to have been welcomed and included in such a special event. I particularly enjoyed mealtimes, where I could really get to know children and their families!

How has this experience impacted your research moving forward? 

We expect to publish the data we collected at the conference, and this will jumpstart additional research in the area and pose new research questions. I hope to continue this line of inquiry by studying the motor speech characteristics associated with different gene changes.