The long odyssey for the DEE‐CDKL5 diagnosis: A call for action

• Published in: Epilepsia open 2024-12, Vol.9 (6), p.2164-2172
• Main Authors: Valente, Kette D., Melo, Fernanda, Marin, Rachel, Vega, Gustavo, Neves‐Borg, Ana, Spagnol, Bianca, Montenegro, Maria Augusta, Vincentiis, Silvia
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age; Brazil; Caregivers; CDD; Child; Child development; Child, Preschool; Clinical trials; Convulsions & seizures; Cyclin-dependent kinases; DEE‐CDKL5; Demographics; diagnosis; Epilepsy; Epilepsy - diagnosis; Families & family life; Female; Genetic Testing; Humans; Infant; Kinases; Male; Medical diagnosis; Medical referrals; Original; Physicians; Questionnaires; Response rates; treatment; Visual impairment; Young Adult
• ISSN: 2470-9239; 2470-9239
• DOI: 10.1002/epi4.13031

Objectives This study aims to determine the current state of CDD diagnosis and epilepsy treatment in an upper‐middle‐income country. Methods Forty‐seven families of the Brazilian CDD Association were invited to participate in an online survey to gather information about the diagnosis and treatment of epilepsy. Results Forty‐three families (91.5%) of unrelated patients with confirmed genetic diagnosis of CDD participated. The median age was 7 years (ranging from 1.3–25 years) and the male: female ratio was 1:6. Early and severe epilepsy started during infancy in 74.4%. Seizures occurred daily in 61.9% and 83.7% had clusters of seizures. The mean age of diagnosis was 3.3 years (ranging from 37 days to 16 years), and younger patients had an earlier diagnosis (p