Enhancing Care and Research: Digital Technology's Impact on Rett Syndrome Management
Wearables have great potential to continue advancing research in Rett syndrome as well as other rare disease areas.
Rett syndrome, a rare genetic neurological and developmental disorder that primarily affects girls, presents specific challenges in both diagnosing and managing the disorder. The disease manifests itself during early childhood and is marked by a decline in motor skills, cognitive abilities, and social interaction. One in 10,000 girls is estimated to be born with Rett syndrome, indicating that around 15,000 girls and women in the US have the disorder.
Rett syndrome isn’t fully understood and a cure doesn’t currently exist. To effectively manage the disorder, accurately monitoring its symptoms is essential for understanding disease progression and assessing treatment outcomes. However, traditional assessment methods rely on subjective measures, such as caregiver-reported questionnaires and clinician observations, which can introduce bias and inconsistency.
Objective measures are needed for quantifying changes in symptoms and disease progression, and wearable technology offers a solution. Wearables, ranging from smart rings to adhesive patches, track vital parameters, including heart rate, breathing patterns, and sleep quality. The technology can redefine Rett syndrome management by providing a more comprehensive picture, capturing accurate and continuous insights into symptom changes over time, and helping to quantify any improvements, which is critical in understanding a treatment response.
Focus on assessing autonomic dysfunction
Rett syndrome is a complex disorder characterized by a range of symptoms, including loss of speech and hand skills, development of repetitive hand movements, breathing irregularities, seizures, sleep problems, and anxiety. Researchers are developing wearable devices to quantify and measure the symptoms associated with Rett syndrome, particularly focusing on assessing autonomic dysfunction.
Led by the Rett Syndrome Research Trust, the VIBRANT study aims to validate methods for monitoring autonomic dysfunction with both invisible and wearable technologies and establish objective measures of symptoms, ultimately accelerating the clinical development of a cure for the disorder.
Leveraging an array of wearables, including Vivalink’s multi-vital ECG wearable technology and data services, researchers can directly quantify changes in patients and learn how symptoms evolve with interventions. The devices also offer the potential to develop early predictive biomarkers of disease-modifying therapeutics.
Unlike motor and cognitive skills, which may take time to show response to interventions, autonomic functions, such as heart rate, breathing patterns, and sleep quality, which don’t require learning and implementation, are likely to serve as more immediate indicators of treatment efficacy. Prioritizing autonomic functions enables researchers to observe rapid improvement post-treatment and establish them as indicators for broader developmental milestones.
Empowering families with wearable technology
Typically, clinicians assess the effectiveness of Rett syndrome treatments or disease progression during clinic visits. They rely on observations, interviews with parents, and questionnaires about the child's behavior. However, the standard lacks precision and is susceptible to bias, as even parents to the same child may provide different feedback regarding the child’s condition.
Caring for a child or family member with Rett syndrome involves extensive observation and caregiving responsibilities. Wearable devices offer significant benefits to families by providing up-to-date information about their child's health status. They no longer need to rely solely on occasional clinic visits or subjective assessments.
Many wearables feature user-friendly interfaces, enabling families to visualize vital signs through apps. Having access to otherwise unseen symptoms can provide parents peace of mind by allowing them to directly observe their child's health status, even during unexpected events like seizures.
Wearables also eliminate the need for constant observation and documentation of their children's behavior and symptoms. Parents can rely on the devices to capture and store data, simplifying reporting to clinicians or participation in studies, reducing stress, and enhancing communication with healthcare professionals.
Building on previous Rett syndrome research
Previous research has demonstrated digital technology's versatility in monitoring Rett syndrome symptoms and RSRT’s VIBRANT study aims to further build on that work. In a prior study, researchers used advanced medical-grade wearable devices to examine the movement and cardiac activity of individuals with Rett syndrome.
Researchers used AI to analyze physiological data collected from 20 participants who wore specialized medical-grade patches for 48 hours at a time. They identified three distinct patterns in movement and heart rate variability that accurately predicted syndrome severity in 84% of cases. As a result, researchers demonstrated that wearables were capable of providing an objective and continuous assessment of symptom severity in individuals with Rett syndrome.
Advancing patient care for rare conditions
The advancement of monitoring technology not only offers opportunities for improving clinical research but also for transforming rare disease care. Digital technologies provide a non-invasive and continuous way to monitor vital parameters, delivering comprehensive data on symptom progression and treatment response.
For those with limited access to specialized healthcare services, remote monitoring with wearable devices can significantly improve healthcare accessibility. Patients, especially those in more rural areas, may not have access to specialized care, making wearables particularly beneficial.
By using digital technologies at home, patients enable providers to assess their condition from a distance, adjust treatment plans, and intervene when necessary. By making care more accessible, wearables and other digital technologies ensure that individuals with rare conditions receive the support they need.
As wearables increasingly become the preferred approach for evaluating therapies, monitoring symptoms, and improving care accessibility, they are poised to elevate standard practices. The ongoing advancement of digital technologies will advance both care and research for Rett syndrome, ultimately improving outcomes and the quality of life for affected individuals and their families.
Jana von Hehn, PhD, Chief Scientific Officer at RSRT
