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

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• CDD (Cerebral Demyelinating Disease) is a severe neurodevelopmental disorder.
• Epilepsy is a common and challenging comorbidity in CDD patients.

Purpose of the Study:

• To evaluate the current diagnostic and treatment landscape for CDD and its associated epilepsy in Brazil.
• To identify barriers to timely diagnosis and effective management of CDD.

Main Methods:

• An online survey was administered to 47 families affiliated with the Brazilian CDD Association.
• Data collected focused on the diagnostic journey and epilepsy treatment of patients with genetically confirmed CDD.

Main Results:

• A significant delay in diagnosis was reported, with a mean age of 3.3 years, influenced by cost and physician referral.
• Most patients experienced early-onset, severe, and daily seizures, often treated with multiple anti-seizure medications (ASMs).
• Caregivers reported frequent and serious side effects from ASMs, impacting patient quality of life.

Conclusions:

• There is an urgent need for improved access to genetic testing and earlier diagnosis of CDD.
• Streamlining the diagnostic process and optimizing epilepsy management can reduce healthcare costs and patient burden.
• Public health policies supporting genetic testing are essential for enhancing care for CDD patients.