The long odyssey for the DEE‐<i>CDKL5</i> diagnosis: A call for action
In this study, we assessed the diagnosis and treatment of patients with genetically confirmed DEE-CDKL5 from the Brazilian Association of CDD with an online survey. Caregivers reported a long delay in the diagnosis associated with cost and late referral to genetic testing, considered the last resource for one-third of the patients. Patients received a high number of ASM, mainly under polytherapy, with serious side effects. Although it is promising that younger patients received earlier diagnosis, public policies for genetic testing are needed to improve CDD patients' care.
Authors
- Kette D. R. Valente (ORCID: https://orcid.org/0000-0002-5008-0809)
- Silvia Vincentiis (ORCID: https://orcid.org/0000-0001-9532-4099)
- Maria Augusta Montenegro (ORCID: https://orcid.org/0000-0002-3609-2774)
- Rachel Marin (ORCID: https://orcid.org/0000-0003-1308-7144)
- Fernanda Evangelista Bandeira de Melo (ORCID: https://orcid.org/0000-0001-7592-0301)
- Gustavo Vega
- Ana Neves‐Borg
- Bianca Spagnol
Institutions
- Universidade de São Paulo (BR)
- University of California San Diego (US)
- Rady Children's Hospital-San Diego (US)
- Hospital São Paulo (BR)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1002/epi4.13031
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00