Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome
Results suggest that participants with PMS exhibit auditory processing abnormalities with complex variation by deletion-size, age, and sex with congruency to impaired early recognition (P50), feature processing (N1), information integration (delta, theta), sensory processing and auditory inhibition (alpha), and inhibitory modulation of repeated auditory stimuli (beta, gamma). Findings may provide valuable insight into clinical characterization of sensory and speech behaviors in future studies.
Authors
- Emily L. Isenstein (ORCID: https://orcid.org/0000-0002-2486-6162)
- Elizabeth Berry‐Kravis (ORCID: https://orcid.org/0000-0001-7099-1522)
- Alexander Kolevzon (ORCID: https://orcid.org/0000-0001-8129-2671)
- Allison Durkin (ORCID: https://orcid.org/0000-0002-8686-4146)
- Lauren E. Ethridge (ORCID: https://orcid.org/0000-0003-0601-6911)
- Craig M. Powell (ORCID: https://orcid.org/0000-0001-5451-2165)
- April R. Levin (ORCID: https://orcid.org/0000-0003-4192-4720)
- Paige M. Siper (ORCID: https://orcid.org/0000-0002-9659-8232)
- Jennifer H. Foss‐Feig (ORCID: https://orcid.org/0000-0002-1491-8248)
- Charles A. Nelson (ORCID: https://orcid.org/0000-0002-4723-247X)
- Matthew W. Mosconi (ORCID: https://orcid.org/0000-0002-1981-6777)
- Michelle Smith (ORCID: https://orcid.org/0000-0001-5288-0001)
- Andrew Thaliath
- Lauren Baczewski (ORCID: https://orcid.org/0000-0001-8854-2282)
- Stormi L. Pulver
Institutions
- Rush University Medical Center (US)
- Boston Children's Hospital (US)
- Children's National (US)
- Emory University (US)
- Mount Sinai Hospital (US)
- Fertility & Lifespan Medical Institute (US)
- University of Oklahoma Health Sciences Center (US)
- University of Rochester (US)
- University of Oklahoma (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-08-25
- DOI
- https://doi.org/10.1186/s11689-025-09642-4
- Citations
- 2
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Child Neurology Foundation
- National Institutes of Health
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development