Researcher Profile: Sylvie Goldman, Ph.D.

Sylvie Goldman, Ph.D., is assistant professor of neuropsychology at Columbia University Medical Center — and she’s using your data!

 

 

Sylvie Goldman is a developmental neuropsychologist. She is teaching faculty for the Parent-Infant Psychotherapy Program in Child Psychiatry at Columbia University Irving Medical Center.

 

Previously, she was faculty at Albert Einstein in the Department of Neurology and Pediatrics. She co-directed the National Institute of Health-Human Clinical Phenotype Core of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center. During her postdoctoral training under the mentorship of child neurologist, Isabelle Rapin, she developed a validated, highly cited test for the classification of motor stereotypies.

 

Goldman’s clinical activities focus on early, comprehensive, diagnostic assessment of children who have neurodevelopmental disorders. She gained her clinical experience during her eight years as psychologist at the McCarton Center evaluating children aged 1 to 8 years.

 

Her research focuses on the use of technology to measure motor functions, especially walking, in children who have gene-based, neurodevelopment disorders with and without autism spectrum disorder (ASD). Her current project looks at gender and sex factors during the ASD diagnosis process, as well as related differences and delays in diagnosis of ASD in girls and minorities.

We interviewed Dr. Goldman about her research:

How did you first start collaborating with Simons Searchlight research?

In 2015, soon after I joined the division of child neurology at Columbia University, department of neurology, 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 Dr Wendy Chung for more detailed comments, she asked me if I would be willing to use this project at the upcoming 16p11.2 family meeting in 2015 to collect motor data. I was happy to accept, and I led the project with my colleague pediatric physical therapist expert in neuro-muscular disorder: Jacqueline Montes, Ed.D., assistant professor of rehabilitation and regenerative medicine in the Program for Physical Therapy.

 

Then in 2018, I joined my colleague Jennifer Bain, M.D., child neurologist at Columbia and SFARI investigator, in her study of HNRNPH2 families and participated in the summer family meeting. I developed a gait testing protocol with my collaborator Damiano Zanotto, M.D., mechanical engineer from the Stevens Institute, to measure the ways that children walk using sensored sneakers.

 

I also collected electrophysiological, or EEG, measures in response to speech and music.

 

I participated again with my team in the 2019 family meeting.

 

How have you and your team used information collected from Simons Searchlight families in your projects? What type of data did your team use, and was it associated with a specific gene change?

For both the 16p11.2 and HNRNPH2 families, I mostly used family history information, psychiatric, and genetic diagnostic information.

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

The way we designed our project for the 16p11.2 family meeting was to test both children who have gene changes and unaffected siblings. This allowed us to generate valuable information about this disorder.

For the walking data of the children who have a gene change in HNRNPH2, we are focusing on the link between the gene changes and the symptoms that these children have.

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

Partnerships between scientists and families are essential for the parents to connect “in-person” with other families. For researchers, inviting parents to enroll in registry studies is the most efficient way to contribute to the effort to collect reliable data. This is essential for understanding rare diseases without having to wait to meet a family that has the particular mutation. Registry represents a unique, easily accessible way to test hypothesis and develop therapeutic animal model assays. It gives researchers access to a large, comprehensive database to advance knowledge and possibly connect patients and families for 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 meetings with new test protocols. I will continue to be available to talk with parents.I plan to use Simons Searchlight data to study the relationship between the stress that parents feel in dealing with a range of genetic syndromes and their children’s sleep disturbances.

For more on Dr. Goldman’s work, click here to view the article she published using Simons Searchlight data.