Dravet syndrome (SCN1A)
Speech and language outcomes in Dravet syndrome reflect underlying neurological injury and are tightly linked to functional ability, cognitive development, and quality of life. Redenlab’s tools provide sensitive, quantifiable endpoints to capture these changes in natural history studies and clinical trials.
Tracking communication changes in Dravet syndrome
Dravet syndrome is a rare, severe developmental and epileptic encephalopathy typically caused by SCN1A mutations, with onset in the first year of life and lifelong cognitive, motor, and communication challenges. Many individuals experience profound expressive language delays, speech motor impairments, and developmental regression following seizures. These deficits limit independence and quality of life and are often overlooked in favour of seizure endpoints in clinical trials. Redenlab provides specialised speech and language assessments designed for low-verbal populations, enabling objective tracking of vocal development, communicative function, and meaningful change over time.
Communication biomarkers for Dravet syndrome
Designed for low-verbal and regressive profiles
Tailored to track vocalisation, expressive language, and speech motor control in children with developmental delay or loss of skills.
Objective markers of functional status
Speech and communication reflect real-world function and are often more ecologically valid than standard neuropsychological tests.
Rare disease trial experience
Proven track record in designing assessments and outcomes for ultra-rare, heterogeneous populations in global clinical trials.
Remote and caregiver-supported protocols
Enables frequent, home-based testing with minimal burden, critical in epilepsy syndromes with fluctuating health.
Complementary to seizure endpoints
Adds depth to trial outcomes by measuring cognitive and communicative impacts of interventions, beyond seizure control alone.
Redenlab’s experience in Dravet syndrome
Redenlab has been instrumental in advancing the understanding of speech, language, and oral motor dysfunction in Dravet syndrome (DS), a severe developmental and epileptic encephalopathy typically caused by SCN1A mutations. In a landmark study published in Neurology (Turner et al., 2017) and featured in the Genetics of Speech program, Redenlab researchers contributed to one of the first comprehensive phenotypic analyses of motor speech deficits in DS across children and adults.
The study highlighted a distinctive communication profile in DS, including dysarthria, impaired motor planning, abnormal resonance and prosody, and frequent expressive language delays. Objective speech assessments revealed that more than half of verbal individuals exhibited moderate to severely reduced intelligibility, while minimally verbal participants showed intentional but nonsymbolic communication. Oral motor dysfunction, drooling, and mild dysphagia were also prevalent, which are symptoms with direct impact on quality of life and functional independence.
Redenlab’s involvement extended to the development and implementation of structured, low-verbal-compatible speech assessments, including both behavioural sampling and quantitative acoustic measures. This work positioned speech and swallowing deficits not just as ancillary features but as clinically meaningful, measurable outcomes, important for understanding disease burden and evaluating intervention effects.
Today, Redenlab applies this validated methodology in natural history studies and interventional trials for DS, providing sensitive, scalable endpoints that complement seizure tracking and enrich the clinical picture of patient experience.
