Summary of Introduction: What is Juvenile and Pediatric HD?
The video discusses the Juvenile and Pediatric HD working group, which focuses on Huntington's disease in children and young adults. Dr. Oliver Quarrel and Dr. Mike Osto, experts in the field, share their backgrounds and involvement in the group. They explain the origins of the working group, which emerged from the European Huntington's disease Network. The group aims to address the specific needs of individuals with juvenile and pediatric Huntington's disease, including faster disease progression and unique symptoms. They highlight the importance of defining terms like juvenile, pediatric, and adolescent onset to align with regulatory guidelines. The group is working on updating research papers, establishing a registry for pediatric HD, and raising awareness about the condition. They encourage feedback and involvement from those interested in the topic. Researchers and sources featured include Dr. Oliver Quarrel, Dr. Mike Osto, and the European Huntington's disease Network.
Notable Quotes
— 23:52 — « Children with an onset before the age of 10 usually present with speech difficulties, stiffness resembling Parkinsons disease, and dystonia. »
— 24:14 — « Cognitive deterioration is mostly detected by declining school performances, and behavioral symptoms may be confused with childhood onset problems like autism spectrum disorders or attention deficit hyperactivity disorders. »
— 24:57 — « Specific features in pediatric onset Huntington disease include epilepsy, problems with coordination (ataxia), muscle cramps (dystonia), and even liver problems like steatosis. »
— 25:30 — « Disease progression in pediatric onset Huntington disease is much faster than in adult onset, resulting in a shorter disease duration, particularly for children with very early onset. »
Category
Science and Nature