Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns
Consistent with previous studies of SHANK2 disorder, these results indicate mild to moderate developmental impairment. Overall, SHANK2 disorder is associated with developmental and adaptive functioning delays, high rates of autism, including sensory symptoms and repetitive behaviors, and ADHD. This study was limited by its remote nature, diverse age range, and the homogeneous racial and ethnic sample. Future studies should examine larger, diverse cohorts, add cognitive testing, capture longitudinal data, and include in-person assessments.
Authors
- Rosalie Greenberg (ORCID: https://orcid.org/0000-0001-8802-2973)
- Jessica Zweifach (ORCID: https://orcid.org/0000-0001-5392-8839)
- Elizabeth Berry‐Kravis (ORCID: https://orcid.org/0000-0001-7099-1522)
- Alexander Kolevzon (ORCID: https://orcid.org/0000-0001-8129-2671)
- Joseph D. Buxbaum (ORCID: https://orcid.org/0000-0001-8898-8313)
- Latha Soorya (ORCID: https://orcid.org/0000-0002-0414-4533)
- Audrey Thurm
- Robert Soufer (ORCID: https://orcid.org/0000-0001-5664-1438)
- Paige M. Siper (ORCID: https://orcid.org/0000-0002-9659-8232)
- Tess Levy (ORCID: https://orcid.org/0000-0003-2207-0440)
- Hailey Silver (ORCID: https://orcid.org/0000-0003-4630-1071)
- Mustafa Şahin (ORCID: https://orcid.org/0000-0001-7044-2953)
- Dorothy E. Grice (ORCID: https://orcid.org/0000-0002-8833-2549)
- Jonathan A. Bernstein (ORCID: https://orcid.org/0000-0001-5369-346X)
Institutions
- Rush University Medical Center (US)
- Boston Children's Hospital (US)
- National Institutes of Health (US)
- Allen Institute for Brain Science (US)
- Harvard University (US)
- Child Health and Development Institute (US)
- Synaptic Research (United States) (US)
- National Institute of Mental Health (US)
- Stanford University (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-04-30
- DOI
- https://doi.org/10.1186/s11689-025-09600-0
- Citations
- 2
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 2.86
Funders
- Beatrice and Samuel A. Seaver Foundation
- National Center for Advancing Translational Sciences