Researcher Profile: Sylvie Goldman, Ph.D.

Sylvie Goldman, Ph.D., is a developmental neuropsychologist in the Department of Neurology at Columbia University Irving Medical Center. She leads a clinic on the assessment of neurodevelopmental disorders and focuses on early diagnosis of autism spectrum disorder (ASD) in young girls. She does research on the motor signs of autism, including the identification and characterization of stereotypies and other movement disorders using automated computer analysis. She collaborates with computer engineers and pediatric geneticists to apply her research using onsite and remote protocols with families of children with genetic disorders around the world.

Her clinical career began in Brussels, Belgium, followed by eight years at the McCarton Center for Developmental Pediatrics in New York, where she tested the cognitive and motor development of children with varied disorders. Before coming to Columbia University, she held a faculty position at Albert Einstein College of Medicine in the Department of Neurology and Pediatrics, where she was co-director of the Human Clinical Phenotyping Core.

During her postdoctoral training, also at Albert Einstein, she developed and published a highly cited classification for motor stereotypies. Goldman is a regular lecturer for the medical residents at Columbia/NYP and for the graduate program at Teachers College at Columbia University. She is a teaching faculty for the Parent-Infant Psychotherapy Program (PIP) in the Department of child psychiatry at Columbia University and a member of the Committee on Diversity and Inclusion for the Department of Neurology.

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

How did you first start collaborating with Simons Searchlight

In 2015, soon after I joined Columbia University, I applied to a funding call and submitted a grant on motor outcomes to the Simons Foundation Autism Research Initiative (SFARI). Unfortunately, it did not get funded. When I reached out to Wendy Chung for more detailed comments, she invited me to collect motor data for my project at the upcoming 16p11.2 Family & Research Conference in Virginia. I was excited to participate and lead the project with my colleague Jacqueline Montes, P.T., Ed.D., pediatric physical therapist expert in neuro-muscular disorders at Columbia University. The results were published in 2019.

In 2018, I joined my colleague child neurologist, Jennifer Bain, M.D. as a SFARI investigator, and we participated in an HNRNPH2 families meeting study. Since then, we have collaborated on several onsite and virtual summer family meetings and published some of our results in 2021 in the Orphanet Journal of Rare Diseases.

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

For my projects based on the specific gene-based cohorts, 16p11.2 and HNRNPH2, I mostly used family history information, behavioral data, psychiatric diagnoses, and basic genetic information.

During the August 2022 Family & Research Conference in Baltimore on CSNK2A1, HIVEP2, MED13L, and SETBP1 genetic disorders, we collected data on gait patterns across all 4 groups and plan to analyze specific genetic changes.

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.

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

So far, my goal has been to develop and validate our innovative motor protocols using computer technologies. Despite my own expertise in diagnostic assessment of ASD, these studies do not address the clinical autism phenotype, but rather the less known motor profile associated with ASD.

For the project at the 16p11.2 Family & Research Conference, we included participants with and without autism (for example: genetic disorder carrier). When available, we also included the participants’ unaffected siblings as comparison groups. This approach allowed us to generate unique information about this genetic disorder and the relationship between ASD and motor development.

As for the onsite and virtual gait assessment project in children with HNRNPH2 mutation, we focused on detailed motor symptoms, including stereotypies, and we plan to look at self-injurious behaviors.

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

I strongly believe in a partnership between scientists and families for the advancement of our understanding of rare diseases, which allows us to develop targeted treatments. As a doctor, I am acutely aware of the importance of connecting with parents and responding to their questions and motivations to be involved in every step of their child’s development, including being part of research meetings and projects.

The opportunity for families affected by rare diseases to register in a database offers them a sense of community and connection with experts that helps them to nurture their hope.

For researchers, inviting parents to enroll in registry studies is the most efficient way to collect high-quality reliable data. The registry helps to reduce the wait times for meeting a family with a particular mutation.

The registry represents a unique, low-cost, and accessible way to gather data across the world to test hypotheses and develop therapeutic animal models before human drug development. It gives researchers access to a larger, comprehensive database to develop collaborations and advance their knowledge while connecting families for meetings and future targeted treatment.

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

I plan to participate in other Simons Searchlight family conferences to continue testing our ongoing and new motor and social gait models.

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

We tested children’s gait using a 5-camera set-up, including a high-quality camera, an iPad, and an iPhone, to measure gait markers and to assess future remote data collection by comparing onsite data with videos sent by parents after the meeting.

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

I am familiar with genetic community family meetings and found this particular experience fulfilling and socially and scientifically informative. This meeting was particularly well organized with appropriate spaces for data collection.

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