Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome - 22/03/22
, Mikaela A. Rowe, BA a, Sylvia B. Guillory, PhD a, Audrey A. Rouhandeh, BA a, d, Julia L. George-Jones, MA b, Teresa Tavassoli, PhD c, Stacey Lurie, PhD a, d, Jessica Zweifach, PhD a, Jordana Weissman, BA a, Jennifer Foss-Feig, PhD a, Danielle Halpern, PsyD a, M. Pilar Trelles, MD a, Maureen S. Mulhern, MS a, Chloe Brittenham, MA e, James Gordon, PhD e, Vance Zemon, PhD d, Joseph D. Buxbaum, PhD a, Alexander Kolevzon, MD aAbstract |
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.
Le texte complet de cet article est disponible en PDF.Key words : Phelan-McDermid syndrome, autism spectrum disorder, visual evoked potential, transient VEP
Plan
| This study was funded by the National Institute of Neurological Disorders and Stroke (R01NS105845 and 1 U54 NS092090 to A.K.), the National Institute of Mental Health (R34 MH100276 to A.K. and R21MH107839 to J.D.B.), the Phelan-McDermid Syndrome Foundation, and the Beatrice & Samuel A. Seaver Foundation. |
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| Drs. Zemon, Gordon, Guillory, and Foss-Feig served as the statistical experts for this research. |
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| Author Contributions Conceptualization: Siper, Tavassoli, Foss-Feig, Gordon, Zemon, Buxbaum, Kolevzon Data curation: Siper, Rowe, Rouhandeh, George-Jones, Lurie, Zweifach, Weissman, Mulhern, Brittenham, Zemon Formal analysis: Siper, Rowe, Guillory, Foss-Feig, Gordon, Zemon Funding acquisition: Siper, Buxbaum, Kolevzon Investigation: Siper, Rowe, Rouhandeh, George-Jones, Tavassoli, Lurie, Zweifach, Weissman, Foss-Feig, Halpern, Trelles, Mulhern, Kolevzon Methodology: Siper, Gordon, Zemon Project administration: Siper, Rowe, George-Jones, Weissman, Buxbaum, Kolevzon Resources: Siper, Gordon, Zemon, Buxbaum, Kolevzon Software: Siper Supervision: Siper, Foss-Feig, Halpern, Gordon, Zemon, Buxbaum, Kolevzon Validation: Siper, Guillory, Rouhandeh, George-Jones, Zweifach, Foss-Feig, Zemon Visualization: Siper, Guillory, Lurie, Brittenham, Gordon, Zemon Writing – original draft: Siper, Guillory Writing – review and editing: Siper, Rowe, Guillory, Rouhandeh, George-Jones, Tavassoli, Lurie, Zweifach, Weissman, Foss-Feig, Halpern, Trelles, Mulhern, Brittenham, Gordon, Zemon, Buxbaum, Kolevzon |
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| Disclosure: Dr. Gordon has reported serving as a consultant for VeriSci Corp., a company that manufactured the Neucodia system. Dr. Zemon has reported serving as a principal in VeriSci Corp., a company that manufactured the Neucodia system. Drs. Gordon and Zemon have reported being shareholders in VeriSci Corp., which has a licensing agreement with Konan Medical USA. Dr. Buxbaum and Mount Sinai have reported holding a patent for the use of Insulin-Like Growth Factor-1 in the treatment of Phelan-McDermid syndrome. Dr. Kolevzon has received research support from AMO Pharma and has served as a consultant to Ovid, Alkermes, Ritrova, Acadia, and Jaguar Therapeutics. Drs. Siper, Guillory, Tavassoli, Lurie, Zweifach, Foss-Feig, Halpern, Trelles and Mss. Rowe, Rouhandeh, George-Jones, Weissman, Mulhern, Brittenham have reported no biomedical financial interests or potential conflicts of interest. |
Vol 61 - N° 4
P. 565 - avril 2022 Retour au numéro
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