Fragile X-associated Disorders and Targeted Treatments: Randi J. Hagerman, M.D. скачать в хорошем качестве

Fragile X-associated Disorders and Targeted Treatments: Randi J. Hagerman, M.D.

Randi J. Hagerman, M.D. talks about Fragile X-associated Disorders and Targeted Treatments. From the 2015-2016 Minds Behind The MIND, May 2016 The UC Davis MIND Institute is working to amplify the voices of the disability community and promote neurodiversity. This includes responding to concerns regarding the language and framing used to describe autism and other neurodevelopmental disabilities. We believe there is a benefit to maintaining access to historical presentations like those on our YouTube page, but recognize that the vocabulary used doesn’t always match the current preferred language. We appreciate the harmful impact of this outdated language, the discriminatory framework which fostered it, and the distress it may cause to some individuals. In an attempt to lessen this, we have changed the titles of presentations where appropriate. 0:00 Introduction 0:37 Two different mutations in the same FMRI gene 1/130-250 females 4:00 Expression of the FMR1 gene 7:39 The Fragile X Mutation A family affair 9:22 Ricaurte, Colombia 13:35 Communication and Social Deficits are continuous in boys with FXS: 60% with ASD significant heterogeneity in the FXS-autism phenotype 14:33 Sensory modulation or processing problems in FXS 15:34 Point mutations in FMRI 16:52 Dramatic upregulation of proteins in the CNS without FMRP 20:10 mGluR5 Antagonist Trials 20:43 Novartis and Roche studies do not assess learning and cognition 22:35 Seaside Phase 3 FXS Arbaclofen Trials: Overall Efficacy Results 23:48 Enhanced Protein Production 24:29 Minocycline Studies in FXS or Autism 26:06 Controlled Trial of Minocycline 27:30 Only 2 individuals had MMP9 levels done in each phase of study and both were responders to minocycline 28:39 The Serotonin System 28:47 SEROTONIN SYNTHESIS CAPACITY: Autistic vs. Non-autistic Children 29:12 Syndromic and non syndromic forms of ASD have reduced tryptophan metabolism 29:49 Tryptophan metabolic pathway 31:39 Randomized, double blind, controlled trial of low dose sertraline in 2 to byo with FXS lasting 6 months 32:34 Mullen Scales of Early Learning (MSEL) 36:00 Yoga and Mindfulness Meditation improves GABA inhibition 36:18 NNZ-2566 (Neuren) Trofinetide 36:41 Neuren Phase 2 placebo controlled trial 37:04 Vitamins and antioxidants in Fragile X mouse and man