The long odyssey for the DEE-CDKL5 diagnosis: A call for action
Kette D Valente1, Fernanda Melo2, Rachel Marin1
1University of São Paulo Medical School - Clinic Hospital (HCFMUSP), São Paulo, Brazil.
Insights
Delayed diagnosis and polytherapy in CDD patients lead to significant healthcare burdens. Early genetic assessment is crucial for improving care and reducing patient and caregiver suffering.
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.
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 < 0.001). Patients were seen by an average of 4.4 physicians (1-15) before the diagnosis. The most relevant obstacles to genetic testing were cost (55.8%) and late requests by physicians (27.9%). At the moment of the assessment, patients received a mean of 3.6 ASMs/day (ranging from 1 to 5). Thirty-four (79.1%) caregivers reported side effects throughout life, including life-threatening events in 16.3%.
Significance:
Based on our findings, a sense of urgency for genetic assessment implementation is evident since the delay in the diagnosis with unnecessary use of resources and excessive polytherapy with serious side effects cause a higher burden to the healthcare system, caregivers, and patients.
Plain Language Summary:
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.
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