Below you will find information on how the modified Delphi process works, who was involved and how we measured consensus.
Building Consensus on SCN8A
Consensus was built using a rigorous scientific process called the Delphi method, which brought together SCN8A experts and families from across the globe. This process ensures that the agreed-upon approaches to diagnosing and treating SCN8A are thoughtful, comprehensive, and represent the best collective knowledge available. Watch this short video to better understand the process of keep reading below.
Core Panel
What Does Consensus Mean?
Table info
Global Participation and Experience
We are very grateful for physicians and families across the globe who worked with dedication to complete the modified Delphi process
Leadership Team
Core Panel
Review Panel
The following table includes the experts who generously gave their time to consult on comorbidities and SCN8A.
Key Features of DEE
Treatment
Clincal Features
| Comorbidities | >50% Estimated Frequency | Severity Level | Change Over Time | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Neurological | Level of Consensus | Severe | Moderate | Mild | No Impairment | Level of Consensus | Worsen | Stable | Mixed | Improve | Resolve | Level of Consensus |
| Fine Motor Delays | Strong | Moderate | Moderate | |||||||||
| Gross Motor Delays | ||||||||||||
| Movement Disorders | ||||||||||||
| Hypotonia Moderate | ||||||||||||
| Cortical Blindness/CVI | ||||||||||||
| Autonomic Dysfunction | ||||||||||||
| Sleep Disturbances | ||||||||||||
| SUDEP Risk | ||||||||||||
| DD/ID/Cognitive | ||||||||||||
| Speech/Communication Delays | ||||||||||||
| Intellectual Disability (ID) | ||||||||||||
| Behavioral Dysregulation | ||||||||||||
| Emotional Dysregulation | ||||||||||||
| Autism Spectrum Disorder (ASD) | ||||||||||||
| Organ Systems | ||||||||||||
| Orthopedic Issues | ||||||||||||
| Gastrointestinal (GI) | ||||||||||||
| Feeding Moderate | ||||||||||||
| Pulmonary | ||||||||||||
Prognosis
| Severe DEE | Significant Deterioration | Modest Deterioration | Limited Change | Moderate Improvement | Significant Improvement | Level of Consensus |
|---|---|---|---|---|---|---|
| Epilepsy | ||||||
| Cognition | ||||||
| Development |
– Keep Exploring –
IMPORTANT: While this consensus data provides new and valuable insights about best practices in the diagnosis and treatment of SCN8A, this is not medical advice. It can inform clinicians and caregivers alike in developing optimal treatment plans for each individual.
Disclaimer for Consensus and Individual Variation
This consensus process was carried out by a panel of expert clinicians who actively treat patients with SCN8A-related disorders. Guidelines determined from a consensus differ from those determined from a population-based study*. The extent of consensus reached is restricted by the number of patients seen by each clinician and the portion of the disease spectrum these patients represent.
Consensus guidelines serve as a recommended starting point for clinicians to treat patients based on the best evidence available. If an affected individual does not fit the expected profile, it is important to reassess your treatment plan and revise accordingly. Reassessment of the consensus guidelines will occur as new data become available and the number of patients seen by clinicians increases.
Guidelines based on future consensus processes will therefore reflect advancements in clinical care.
*Population-based studies reveal general trends for large subsets of the population. It is important to remember that each individual is unique and may not necessarily follow these trends regarding developmental progression, seizure remission, or effective treatment.