Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies
The prevalence of symptoms compatible with ASD (and higher CARS scores) and OCD among patients with dystrophinopathies are related to the position of the causal variant in DMD and the consequent involvement of cerebral isoforms, indicating an important genotype-phenotype correlation. The diagnosis of a patient with a genotype that affects these isoforms indicates the need for neuropsychological assessment and multidisciplinary follow-up.
Authors
- Félix Alexandre Antunes Soares (ORCID: https://orcid.org/0000-0002-6453-7902)
- G Giordani
- Daniela Mayumi Usuda Prado Rocha (ORCID: https://orcid.org/0000-0001-6130-0179)
- Ana Carolina Brusius-Facchin (ORCID: https://orcid.org/0000-0002-1305-7159)
- Jonas Alex Morales Saute (ORCID: https://orcid.org/0000-0003-1646-2667)
- Bruna Faria Rosa
- Michele M Becker
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
Publication Details
- Journal
- Jornal de Pediatria
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1016/j.jped.2025.01.014
- Primary Topic
- Children's Physical and Motor Development
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Hospital de Clínicas de Porto Alegre
- Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul