Children face long delays in receiving Dravet syndrome diagnosis
Study also finds gaps between seizure onset and genetic testing, treatment
Written by |
Children with Dravet syndrome may experience multiple seizures before receiving a diagnosis and starting disease-specific treatment, with substantial delays reported between seizure onset, genetic testing, diagnosis, and treatment, a European survey study shows.
Among 45 patients whose diagnostic journeys were reviewed, seizures began at a median age of 4 months, but a formal diagnosis was not given to families until a median of 15 months, and Dravet-specific treatment was not started until another three months later.
According to researchers, “ongoing clinician education, healthcare system support, and family empowerment are essential to translate diagnostic progress into better long-term management.”
The study, “From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS’coverED study,” was published in Epilepsia Open.
Diagnostic delays persist despite genetic testing advances
Dravet syndrome is a form of epilepsy characterized by frequent and prolonged seizures, or uncontrolled bursts of the brain’s electrical activity, that typically start in early infancy. In most cases, the disease is caused by mutations in the SCN1A gene that disrupt normal brain signaling.
Early recognition, genetic testing, and initiation of Dravet-specific anti-seizure medications are critical to improving patients’ long-term clinical outcomes. Despite advances in genetic testing improving early diagnosis, delays between seizure onset and diagnosis persist.
To further characterize Dravet’s diagnostic pathway, a European steering committee composed of eight pediatric neurologists and one representative from the Dravet Syndrome European Federation conducted the DS’coverED survey study.
A total of 53 physicians completed the DS’coverED survey. Most respondents (91%) were pediatric neurologists, worked at university hospitals (85%), and had at least 15 years of experience in Dravet management (53%). Also, most were from Italy (25%), Spain (23%), France (19%), and the U.K. (19%).
Physicians had treated a median of six patients, including a median of one diagnosed in the year preceding their participation in the study. Patients waited an average of 4.5 weeks for a genetic testing appointment and three months for test results, with almost 80% of physicians making a diagnosis based on clinical presentation and/or genetic confirmation.
Patients had median of 9 seizures before being diagnosed
A total of 45 questionnaires concerning individual patients’ journeys were completed by the physicians. These patients had a median age of 4.2 years at the time of the survey, and 53% were boys.
They experienced their first seizure at a median age of 4 months and a second seizure at a median age of 6 months. The initial seizures were commonly triggered by fever, originated in an area of one side of the brain (65%), and involved abnormal movements on one side of the body (59%). In more than half, seizures lasted between five and 30 minutes.
Most patients received emergency room care on the same day as their first two seizures. Following their second seizure, 40% of families consulted a pediatric neurologist and 29% saw a pediatrician within 24 hours.
Overall, patients experienced a median of nine seizures before their families were informed of a Dravet diagnosis.
The diagnostic pathway showed several delays between seizure onset and diagnosis. While seizures began at a median age of 4 months, patients only saw a physician specialized in Dravet at a median of 7 months of age. Genetic testing was requested at a median age of 9 months, and Dravet syndrome was first mentioned to families at a median age of 11 months.
The study provides healthcare professionals with benchmarks for refining their diagnostic practices and guiding clinical improvements — ongoing clinician education, better healthcare system coordination, and active caregiver engagement
Genetic test results and diagnosis announcements became available at a median age of 15 months. However, delays were substantial for some patients, with 34% waiting at least six months for genetic test results, and one-quarter receiving a diagnosis at least eight months after their first consultation with a Dravet-experienced physician.
Patients whose first seizure lasted five minutes or more had a significantly shorter delay to diagnosis after the first consultation with a Dravet-experienced physician than patients whose first seizure lasted less than five minutes.
Treatment was begun a median of three months after diagnosis, with nearly 30% of patients starting treatment within the same month. However, about one-quarter (27%) waited nine months or more from diagnosis to initiate treatment.
Most responders suggested solutions to improve Dravet’s diagnostic pathway, mainly related to genetic testing, disease awareness, interaction between expert and referral centers, diagnostic criteria, and a multidisciplinary approach.
“The study provides healthcare professionals with benchmarks for refining their diagnostic practices and guiding clinical improvements — ongoing clinician education, better healthcare system coordination, and active caregiver engagement,” the researchers wrote.
Leave a comment
Fill in the required fields to post. Your email address will not be published.