Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

Paige M. Siper, Mikaela A. Rowe, Sylvia B. Guillory, Audrey A. Rouhandeh, Julia L. George-Jones, Teresa Tavassoli, Stacey Lurie, Jessica Zweifach, Jordana Weissman, Jennifer Foss-Feig, Danielle Halpern, M. Pilar Trelles, Maureen S. Mulhern, Chloe Brittenham, James Gordon, Vance Zemon, Joseph D. Buxbaum, Alexander Kolevzon

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5 Scopus citations


Objective: The current study used visual evoked potentials (VEPs) to examine excitatory and inhibitory postsynaptic activity in children with Phelan-McDermid syndrome (PMS) and the association with genetic factors. PMS is caused by haploinsufficiency of SHANK3 on chromosome 22 and represents a common single-gene cause of autism spectrum disorder (ASD) and intellectual disability. Method: Transient VEPs were obtained from 175 children, including 31 with PMS, 79 with idiopathic ASD, 45 typically developing controls, and 20 unaffected siblings of children with PMS. Stimuli included standard and short-duration contrast-reversing checkerboard conditions, and the reliability between these 2 conditions was assessed. Test−retest reliability and correlations with deletion size were explored in the group with PMS. Results: Children with PMS and, to a lesser extent, those with idiopathic ASD displayed significantly smaller amplitudes and decreased beta and gamma band activity relative to TD controls and PMS siblings. Across groups, high intraclass correlation coefficients were obtained between standard and short-duration conditions. In children with PMS, test−retest reliability was strong. Deletion size was significantly correlated with P60-N75 amplitude for both conditions. Conclusion: Children with PMS displayed distinct transient VEP waveform abnormalities in both time and frequency domains that might reflect underlying glutamatergic deficits that were associated with deletion size. A similar response pattern was observed in a subset of children with idiopathic ASD. VEPs offer a noninvasive measure of excitatory and inhibitory neurotransmission that holds promise for stratification and surrogate endpoints in ongoing clinical trials in PMS and ASD.

Original languageEnglish
Pages (from-to)565-574.e1
JournalJournal of the American Academy of Child and Adolescent Psychiatry
Issue number4
StatePublished - Apr 2022


  • Phelan-McDermid syndrome
  • autism spectrum disorder
  • transient VEP
  • visual evoked potential


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