The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

Jennifer Cooke (1) , Ciara J Molloy (2) , Antonia San José Cáceres (1, 3, 4) , Thomas Dinneen (2) , Thomas Bourgeron (5) , Declan Murphy (1) , Louise Gallagher (2) , Eva Loth (1)

1 Institute of Psychiatry, Psychology & Neuroscience, King's College London
2 Trinity College Dublin
3 Hospital General Universitario "Gregorio Marañón" [Madrid]
4 CIBER-SAM - Centro de Investigación Biomédica en Red Salud Mental [Madrid]
5 GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions

The Synaptic Gene Study sample and our planned comparisons, with information on the necessary adaptations made during the global COVID-19 pandemic. We also describe the demographics of the data collected thus far, including 25 PMS, 36 NRXN1ds, 33 iASD, and 52 NTD participants, and present an interim analysis of autistic features and adaptive functioning.

Keywords: synaptopathies; autism; rare genetic variants; biomarker; Phelan-McDermid syndrome; NRXN1 deletion

Domains: Neurons and Cognition [q-bio.NC]

Jennifer Cooke, Ciara J Molloy, Antonia San José Cáceres, Thomas Dinneen, Thomas Bourgeron, et al.. The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions. Frontiers in Neuroscience, 2022, 16, pp.806990. ⟨10.3389/fnins.2022.806990⟩. ⟨pasteur-04069491⟩