Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome
Smith M, Berry-Kravis E, Thaliath A, Isenstein E, Durkin A, Foss-Feig J, Siper P, Nelson C, Baczewski L, Levin A, Powell C, Pulver S, Mosconi M, Kolevzon A, Ethridge L. Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome. Journal Of Neurodevelopmental Disorders 2025, 17: 51. PMID: 40855273, PMCID: PMC12376477, DOI: 10.1186/s11689-025-09642-4.Peer-Reviewed Original ResearchConceptsInter-trial coherenceAuditory processing abnormalitiesEvent-related spectral perturbationReactivity to sensory stimuliDeletion sizeAuditory stimuliRepetitive auditory stimuliSensory processingGenetic conditionsEvent-related potentialsComparison of event-related potentialsPhelan-McDermid syndromeBackgroundPhelan-McDermid syndromeNeonatal hypotoniaElectroencephalography studyDysmorphic featuresInhibitory modulationNeurophysiological abnormalitiesMethodsA totalEarly recognitionSHANK3 geneClinical characterizationProcessing abnormalitiesDevelopmental delayImpaired processing
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