Multi-Site, Direct Comparison of Three Autism Synaptopathies

Many of the genes implicated in autism spectrum disorder (ASD) converge on common molecular pathways, particularly those relevant to protein synthesis that contributes to synaptic function. The mTOR pathway is one such example. In this panel, we examine three genetic disorders of the mTOR pathway, all of which have high penetrance of ASD: Tuberous Sclerosis Complex (TSC1 and TSC2 genes), PTEN Hamartoma Tumor Syndrome (PTEN gene), and Phelan-McDermid Syndrome (SHANK3 gene). We will provide a bench-to-bedside perspective on these disorders, with talks describing the molecular and cellular analyses of these disorders using patient-derived stem cells, structural findings on MRI, electrophysiological findings on EEG, and phenotypical characterization. Overall, data from this combination of genetic syndromes provides an opportunity to understand the relationship between genetics, pathological molecular mechanisms, structural and functional findings that provide opportunities for biomarker development, and behavioral symptomatology across these three biologically related but distinct disorders.
Saturday, May 4, 2019: 1:30 PM-3:30 PM
Room: 524 (Palais des congres de Montreal)
Panel Chair:
J. Buxbaum
Discussant:
M. Sahin
1:55 PM
Evaluating the EEG Power Spectrum across Three Neurogenetic Disorders of the mTOR Pathway
A. R. Levin E. Berry-Kravis C. Eng L. E. Ethridge J. Foss-Feig A. Y. Hardan D. S. Karhson A. Kolevzon M. E. Modi M. W. Mosconi C. A. Nelson C. M. Powell V. Punia P. M. Siper A. Thaliath M. Sahin
2:20 PM
Computational MRI Analysis of Cerebellar Circuitry across Three Different Genetic Forms of Autism and Intellectual Disability
S. Srivastava A. Prohl B. Scherrer S. K. Warfield A. Kolevzon C. Eng D. A. Krueger M. Sahin
2:45 PM
Initial Phenotypic Characterization across Three Developmental Synaptopathies
L. Soorya C. Farmer E. V. Ocampo A. Wainer A. Snow D. A. Pearson P. M. Siper A. Kolevzon J. Buxbaum C. Eng E. Berry-Kravis C. M. Powell J. A. Bernstein D. A. Krueger M. Sahin A. Thurm
See more of: Rare Genetic Disorders