1 / 20

Update in Pediatric Neurology: Recent Advances in Diagnosis and Treatment

This course provides a comprehensive update on recent developments in pediatric neurology, covering topics such as neuromuscular diseases, intellectual disabilities, and childhood epilepsies. Presentations by experts in the field will explore new diagnostic and therapeutic horizons, including the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. Attendees will also gain insights into the management of epilepsy in children, from diagnosis to therapy. Don't miss the opportunity to stay up-to-date with the latest research and advancements in pediatric neurology.

rhelton
Download Presentation

Update in Pediatric Neurology: Recent Advances in Diagnosis and Treatment

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. “Corso di Formazione Continua in Pediatria“ Presidente e Responsabile Scientifico Antonio Campa Novità recenti in Neurologia Pediatrica: un update G.Terrone, MD, PhD Department of Translational Medicine, Child Neurology, Federico II University, Naples, Italy

  2. Nuovi orizzonti diagnostico-terapeutici….. • Malattie neuromuscolari (DMD, SMA) • Disabilità Intellettive (Down syndrome) • Epilessie dell’età evolutiva

  3. Distrofia muscolare di Duchenne About 10–15% of patients with DMD have a nonsense mutation, which introduces a premature stop codon into the dystrophin mRNA

  4. FDA-EMA: trattamento della nmDMD nei pazienti deambulanti di età pari o superiore a 5 anni

  5. .....la ricerca non si ferma Lancet 2017; 390: 1489–98

  6. Atrofia muscolare spinale

  7. Nusinersen (FDA-EMA approved) • The recommended dose is 12 mg, given as soon as possible after the diagnosis. • The first dose should be followed by 3 more doses after 2, 4, and 9 weeks and then one dose every 4 months thereafter. • Treatment should be continued for as long as the patient benefits from it.

  8. Sindrome di Down

  9. DEFINED EPILEPSY SYNDROME UNDEFINED EPILEPSY SYNDROME

  10. DALLA DIAGNOSI ALLA TERAPIA...

  11. N-acetylcysteine + Sulforaphane

  12. Grazie dell’attenzione

More Related