Expert review and validation is a critical part of the process that videos must go through to be added to the CPM's extensive video database. When GeneticaLens films or receives a video, we review the content to ensure that its content is appropriate, and that no sensitive personal information is included. We also add a title and description for each video, as well as symptom and topic labels which relate to the video's content. These symptom and topic labels are very important, because they allow users to conduct targeted searches of the database for videos that show specific symptoms, or relate to specific topics. In order to ensure that all this metadata is accurate, videos must be reviewed by experts. 

Keith Coffman, MD, a pediatric neurologist at Mayo Clinic, is one of these experts. Keith Coffman is an expert in SCN2A-related disorders, and has deep knowledge about the key symptoms that effect individuals with SCN2A: seizures, movement disorders, and autonomic dysfunction. He's also no stranger to reviewing videos. 

Coffman already uses video regularly in his work, and explains that video from parents helps him see things that happen at home rather than in the office. In the past, before the age of smartphones which made video recording anywhere at any time much more possible, clinicians had to hope that the symptoms and behaviors that parents were reporting would happen in the office. If they didn't, the clinician may not be able to accurately identify what's happening just based on the parents' description. Often times, neurological symptoms are hard to describe with words. 

Video also enables the viewer to pause time, view something again, or even watch in slow-motion. According to Coffman, the video enables a much more precise analysis of symptoms and behaviors. 

In this video, Dr. Coffman analyses a video of a young girl Harper, who was diagnosed with SCN2A-related disorders. Towards the end of the video, you can also see Coffman fill out the CPM review form that our experts use to conduct the reviews of CPM videos. 

In the next video, you'll see Dr. Coffman review another video of a child with SCN2A-related disorder, Ben. Through his life, Ben has experienced shaking episodes where his chin, and sometimes his whole body, trembles. 

In one of his talks at a conference for SCN2A-related disorders, Dr. Coffman explained that "these symptoms are treatable IF people recognize them." This is why documenting these symptoms is so important. By providing clinicians, medical students, and caregivers with real world examples of the difficult-to-identify symptoms of SCN2A, they will be far better equipped to recognize them in the future.