Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases
This study identifies five new patients with pathogenic variants in the SHANK genes that present generalised anxiety disorder as a common psychopathological comorbidity. Identification of the underlying genetic cause in children and adolescents with mild or borderline intellectual disability may improve their clinical management, allowing a personalized approach, and providing precise genetic counselling to the family.
Authors
- Montserrat Pàmias (ORCID: https://orcid.org/0000-0003-1114-5419)
- María Tomás (ORCID: https://orcid.org/0000-0003-4501-0387)
- Nino Spataro (ORCID: https://orcid.org/0000-0002-2127-2238)
- Anna Ruiz (ORCID: https://orcid.org/0000-0001-7314-5962)
- Laura Plans (ORCID: https://orcid.org/0000-0002-6751-0940)
- Carmen Manso-Bazús (ORCID: https://orcid.org/0000-0002-7118-1203)
- Mercè Casadesús
Institutions
- Universitat de Vic - Universitat Central de Catalunya (ES)
- Universitat de Lleida (ES)
- Universitat Internacional de Catalunya (ES)
- Althaia (ES)
- Institute of Research and Innovation Parc Tauli (ES)
- Institut Català de la Salut (ES)
Publication Details
- Journal
- BMC Psychiatry
- Published
- 2025-11-11
- DOI
- https://doi.org/10.1186/s12888-025-07510-y
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centres de Recerca de Catalunya
- Generalitat de Catalunya
- Instituto de Salud Carlos III