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 We appreciate the harmful impact of this outdated language, the discriminatory framework which fostered it, and the distress it may cause to some individuals.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