Screening, Diagnosis, and Investigation of Global Developmental Delay and Intellectual Developmental Disorder
A structured protocol enhanced diagnostic consistency and efficiency in children with GDD and IDD. Genetic testing, particularly array-CGH, FMR1 analysis, and karyotype, proved most informative, yielding an overall etiological diagnosis rate of 11%. These findings highlight the importance of evidence-based protocols for comprehensive evaluation and genetic counseling.
Authors
- Margarida Maria Videira Henriques (ORCID: https://orcid.org/0000-0003-4888-0396)
- Márcio Ajudarte Lopes (ORCID: https://orcid.org/0000-0001-6677-0065)
- Ana Pereira Lemos (ORCID: https://orcid.org/0000-0002-0167-4280)
- Ester Preciosa Maio Nunes Pereira (ORCID: https://orcid.org/0000-0001-5956-0940)
- Ana Carolina Rodrigues Alves (ORCID: https://orcid.org/0009-0000-0021-4461)
- Caroline Lopes (ORCID: https://orcid.org/0000-0002-5195-8425)
- I. Pedrosa
Institutions
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
Publication Details
- Journal
- Cureus
- Published
- 2025-12-12
- DOI
- https://doi.org/10.7759/cureus.99027
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00