Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis
Neuropsychological follow-up is crucial for children with craniosynostosis. Most patients with SMAD6 variants show mild to moderate effects, with developmental scores normalizing with appropriate therapies. However, the impact of Smad6, especially in cases with additional variants, requires further study. Early intervention remains key to optimizing cognitive and behavioral outcomes.
Authors
- J. Chauvel-Picard (ORCID: https://orcid.org/0000-0002-1567-883X)
- Szathmari Alexandru
- Corinne Collet (ORCID: https://orcid.org/0000-0001-6990-863X)
- Massimiliano Rossi (ORCID: https://orcid.org/0000-0002-5797-8152)
- Sofia Guernouche (ORCID: https://orcid.org/0000-0001-6978-3179)
- Pauline Monin (ORCID: https://orcid.org/0000-0002-8813-2053)
- C. Mottolèse
- Matthieu Vinchon (ORCID: https://orcid.org/0000-0002-9122-6165)
- Isabelle Verlut (ORCID: https://orcid.org/0000-0002-5859-6332)
- P.A. Beuriat (ORCID: https://orcid.org/0000-0003-3450-0161)
- Nicolas Chatron (ORCID: https://orcid.org/0000-0003-0538-0981)
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Hôpital Femme Mère Enfant (FR)
- Centre de Recherche en Neurosciences de Lyon (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Robert-Debré (FR)
Publication Details
- Journal
- Journal of Craniofacial Surgery
- Published
- 2025-06-09
- DOI
- https://doi.org/10.1097/scs.0000000000011461
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00