The FXTAS Complex. Tremor Ataxia. hypertension Psychological Neuropathy problems Limb pain
|
|
- Della Ross
- 5 years ago
- Views:
Transcription
1 The FXTAS Complex Tremor Ataxia hypertension Psychological Neuropathy problems Limb pain migraines fibromyalgia impotence dysinhibition Urinary problems: urgency, incontinence Hypothyroidism, testosterone deficiency
2 Treatment of Symptomatic Carriers Treat depression and anxiety with SSRIs Exercise and SSRIs stimulate neurogenesis to repair the brain: a dynamic process in aging Treat hypertension and hypothyroidism Avoid stress and elective surgery when possible Stop smoking and drinking excessively Antioxidants ie vit C, folate, vit E, fresh fruit, acai berry, green tea Treatment of FXTAS: tremor-consider primidone, beta blockers, botox injections; cognitive changesmemantine for memory, confusion and neuroprotection venlafaxine (Effexor XR) to enhance attention,ef, 1 case of Chantrix improving tremor in a smoker Deep brain stimulation can improve tremor
3 Treatment for Fragile X Syndrome Multiple individual therapies speech & language, PROMPT therapy developed by Deborah Hayden at OT SI & PT behavioral therapy, family counseling, ABA if autism too Special education inclusion when possible, often with aide individual help with academics especially math computers: word processing & software for academics Medications enhance attention and concentration-stimulants decrease impulsivity, hyperactivity, and aggression decrease anxiety and OCD symptoms- SSRIs stabilize mood-risperidone, aripiprazole (Abilify), lithium anticonvulsants: depakote, lamotrigine (Lamictal) Genetic Counseling
4 Treatment of ADHD in FXS with Stimulants
5 Alpha Agonists to Decrease ADHD and Hyperarousal in FXS Clonidine Guanfacine And alpha 2A agonist
6 Clonidine in Fragile X Survey of 35 children with FXS treated with clonidine (Hagerman et al 1995) 89% treated for ADHD, 37% for tantrums, 40% for aggression, 49% for anxiety, 37% for sleep disturbances 63% said very helpful 20% said somewhat helpful 6% said no effect 11% said worse on clonidine
7 Selective Serotonin Reuptake Inhibitors SSRIs
8
9 Fragile X specific treatments: Targeted treatments for FXS may also be helpful for other neurodevelopmental disorders with similar Glutamate and GABA abnormalities including a subgroup of patients with autism
10 Neurobiology of Long Term Depression (LTD) through mglur5 Internalization of AMPA mglur5 Internalization of AMPA mglur5 Internalization of AMPA mglur5 Antagonist Normal protein synthesis Gene transcription FMRP activates mrna translation Excess protein synthesis FMRP activates mrna translation Normal protein synthesis FMRP activates mrna translation Nucleus DNA Typical Development Nucleus DNA Fragile X syndrome Nucleus DNA Rescued Phenotype Chonchyia, Schneider and Hagerman 2009 Advances in Pediatrics
11 A Model for FMRP function The mglur hypothesis Gradual weakening of synapses Too many immature spines Receptor loss
12 Specific Psychopharmacological Interventions mglur5 antagonists mglur5 antagonists including MPEP and fenobam have been tried in KO mice and in fragile X fruit flies and have improved synaptic structure, cognition and seizures. devrij et al 2007 Bauchwitz et al 2004 McBride et al 2005 Yan et al 2005
13 Targeted Treatments for FXS mglur5 antagonists: Fenobam used in 1980s as anxiolytic, recently shown to be mglur5 antagonist, has FDA approval for FXS trials (Berry-Kravis et al 2009 JMG) STX 107 developed by Merck and licensed by Seaside Therapeutics. Animal studies funded by CAN, human trials in FXS within 1-2 years Novartis has finished European study of mglur5 Roche will initiate studies in FX adults Some GABA agonists may down regulate mglur5 pathway: R-Baclofen-trial in progress 6 sites for FXS Minocycline can be helpful for the KO mouse by lowering MMP9 and also helpful in a survey in FXS
14 Prepulse Inhibition (PPI) Studies Startle Alone Trials 50 ms 105 db white noise Auditory stimulus Obicularis Oculi EMG Latency Amplitude (volts) Prepulse Trials 50 ms 105 db white noise Prepulse: 50 ms, 75 db 1000Hz tone Auditory stimuli Obicularis Oculi EMG Prepulse interval: 60, 120, or 240 ms Amplitude (volts)
15 Prepulse Inhibition in Fragile X Syndrome: Outcome Measure Ready for Treatment Trials Test-Retest Reliability Group Effect: F(1, 74) = 36.00, p < !! Alphas =.88 (control),.85 (FXS),.89 overall!!!
16 Fenobam: An anti An anti-anxiety anxiety med studied in the 1980s and now found to be an mglur5 antagonist (Porter et al 2005) FDA approved orphan drug for FXS and safety trial funded by Neuropharm and FRAXA Single dose study with AE screening and PK in FXS 6 males and 6 females 3 each at Rush and UC Davis stable doses of SSRIs,, antipsychotics, alpha-agonists agonists allowed, stimulants held for baseline and dosing days Baseline visit for exam, screening labs, PPI, CPT Dosing visit in weeks with AE monitoring, PPI/CPT, PK blood draws for 5 hours Primary endpoint safety; PPI, CPT as exploratory efficacy outcome measures (Berry-Kravis et al JMG 2009)
17 MIND Institute Patient Prepulse Inhibition (PPI) measures at baseline and after 2 weeks IV stayed in for 5 hours For PK studies
18 We celebrated the results of the first and subsequent patients
19 P=0.03
20 R-Baclofen Rescues Audiogenic Seizures in the FX-KO Mouse (Pacey et al 2009 on line Molecular Pharmacology) R-Baclofen (1 or 2 mg/kg i.p.) rescued audiogenic seizures in 27 to 30 day old FMR1 KO mice There was a 67% (1 mg/kg dose) to 79% (2 mg/kg dose) decrease in seizure incidence compared to vehicle controls Effect seen in both male and female KOs
21 R-Baclofen: STX209 Baclofen is racemic Both isomers are selective GABA-B agonists GABA-B: R:S potency ratio 15:1 in vivo: R:S potency ratio :1 R-Baclofen kinetics comparable when given alone or as part of racemic mixture (with S-baclofen) R-Baclofen is more potent in blocking presynaptic release of glutamate and therefore may be helpful in FXS and perhaps in autism
22 mglur Theory Excessive Glutamatergic Transmission STX209 mglur5 GABA-B FMRP Proteins mglur5 Pre-synaptic Post -synaptic Seaside Therapeutics
23 Controlled R-Baclofen Trial funded by Seaside Therapeutics Enrolling individuals with FXS 6 years and older with irritability scale >9 on ABC- Aberrant Behavior Checklist Escalation of dose from 1 mg bid gradually to optimal dose but no higher than 10 mg tid over a 4 week period then washout and crossover for a second 4 weeks Outcome measures include CGI, visual analogue, ABC, PPI, eye tracking Trial taking place at 6 centers in the US including MIND Institute, Rush University, UCLA, Indiana University, Vanderbilt and UNC
24 Lithium could inhibit mglur-activated translation through 2 mechanisms Lithium FMRP
25 FXS Open-Label Lithium Trial Test concept of mglur pathway inhibition (reduction of excess translation) Test drug responsiveness for outcome measures Results to help inform study design for mglur5 blocker trials in FXS 15 FXS subjects 2 mo, 1 year extension Rapid titration to levels of Behavioral, cognitive, biopysiological,, biomarker outcomes at baseline and 2 mo 13 better at 2 mo, minimal toxicity
26 Absence of FMRP upregulates other proteins throughout the brain including MMP 9 (Bilousova et al 2009) Matrix metalloproteinase 9 (MMP 9) one of a family of proteins important for synaptic structure and plasticity MMP9 is significantly elevated in FXS Minocycline will lower MMP 9 levels and mature synaptic connections in cultured hippocampal cells Studies in the FX mouse demonstrate that minocycline treatment for 1 month at birth will rescue the synaptic abnormalities in vivo Improvements also seen in anxiety on the elevated plus maze and more strategic exploratory behavior on the Y maze
27
28 Minocycline matures the spines in KO FX mouse
29 Minocycline treatment induces spine maturation with enhanced mushroom spines in the KO mouse Bilousova et al 2008 JMG
30 Minocycline 1948: Tetracycline introduced as a broad spectrum antibiotic 1963: FDA and ADA acknowledged dental abnormalities related to periods of active calcification (TCNs chelate Ca ++ and incorporate into bone and teeth) and recommended avoidance during pregnancy and early childhood 1967: Minocycline introduced, benefits are Little phototoxicity, greater GI absorption, lipid soluable, CNS penetrance, less calcium binding so less frequent tooth staining, anti-inflammatory and neuroprotective (Sanchez et al 2004; LaPorta et al 2005)
31 Dental Staining with Minocycline Overall thought to be 2 to 6% (Laporta et al 2005) Cascio et al 2004: followed 41 children ages 0.5 to 7.9 y mean 5yo treated with minocycline for brucellosis for 3 weeks (2.5 mg/kg bid). No increase in dental abnormalities compared to controls at 11yo Minocycline can stain tissues also in addition to bone and teeth. Oxidation brings out color and inhibited with simultaneous treatment with vit C (Bowles 1998) Other side effects include pseudotumor cerebri so discontinue if headaches or emesis is a problem; lupus like rash can occur with long term use
32 Porcelain plated upper teeth Sanchez et al 2004
33 Timing of calcification of deciduous teeth Calcification of permanent teeth begins at 6 months of age So window of opportunity In the first 6 months Sanchez et al 2004
34 Minocycline is available now by prescription There was dramatic response from families after the Bilousova paper was out on line Agustini Utari MD, a fellow in pediatrics from Indonesia working at the MIND surveyed 50 families whose children with FXS have been treated for >2weeks on minocycline (3 were treated for less than 2 wks) with a likert scale (very much better, somewhat better, no improvement, somewhat worse, very much worse) for behavioral and cognitive changes in the follow-up of our patients Open trial in Toronto with Dr Carlo Paribello
35 Sex Results Characteristics of Participants 43 Male, 7 Female DNA Full mutation 39 (78%), mosaic 9 (18%), premutation 2 (4%) Autism Autism 12 (24%), PDD-NOS 14 (28%) Diagnosis Age Mean : 13.3 ± 6.2 y (range years) Full Scale IQ Mean : 62.6 ± 14.5 (range 40-91) Duration of Mean : 3.5 months (range months) Treatment Dosage mg /day, orally
36 Outcome in 50 patients
37 Side Effects Percentage of side effects (n=53) 11.3% (6 patients) discontinued minocycline because of the side effects.
38 SIDE EFFECTS n=53
39 Gray color in finger and toe nails pigmentation of the nails in a 19 year-old male after one year on minocycline. The color change involved only some nails. Intense staining is seen on his index fingers and 2nd toes. The color change appeared after about months of use of minocycline and has not worsened in the subsequent year. A fungal culture was negative.
40 The Tobii eye tracker allows testing in babies with FXS
41 We demonstrated a significant impairment in detecting second-order, moving stimuli in FXS babies. Farzin et al 2008 First-order (luminance defined) Second order (texture defined)
42 Mullen Scales can detect improvement post minocycline in babies with FXS Changes in Mullen Scores age in months Visit 1 Visit 2 Visit 3 Pre Mino Visit 4 Post Mino CA MA Gross Motor Visual Reception Fine Motor Receptive Language Expressive Language Prominent increases, post-minocycline, in Expressive Language and Visual Reception
43 Targeted Treatment of Fragile X Syndrome camp agonists GABA Agonists Ganaxolone R-Baclofen MGluR5 Antagonists Fenobam STX107 others Antioxidants Vit E, C, folate NAC Minocycline
44 Alpha Tocopherol (Vit E) and N-acetyl L Cystine Protects Against Oxidative Stress in FXKO Mouse and Improves Behavior, Learning and Macroorchidism (de Diego-Otero et al 2009 Neuropsychopharmacology 34:1011
45 Targeted Treated Treatments must be combined with innovative educational programs If synaptic connections are improved with minocycline we must enhance these connections with educational interventions Develop improved education programs with assistive technology, virtual reality and computer games. Using Write Out Loud Co-writer word prediction programs
46 Greg Niemeyer s games to improve attention executive finction abilities will be utilized in the interventions Track FX and Balance Game
47 Assistive Technology includes Augmentative and Assistive Communication (AAC) Devices for those who are non verbal LAMP Training has been helpful for a subgroup of Children with FXS who are nonverbal
48 Who to Test with FMR1 DNA Any child or adult with intellectual disability or autism or ASD of unknown etiology Children with borderline IQ or learning disabilities or ADHD with features of FXS Women with reproductive or fertility problems with elevated FSH ACMG: Those with late onset tremor or cerebellar ataxia of unknown origin Neurological disorders: cerebellar ataxia in males and females over 50 years (2% with pre) MSA-C (Kamm et al 2005) Atypical Parkinsonism (Ceravolo et al 2005)
49 The National Fragile X Foundation has Treatment Information on line Next conference Detroit July 2010 PO Box San Francisco, CA USA Telephone: Fax: NATLFX@FragileX.org Web:
50 M.I.N.D. Institute Susan Rivera Louise Gane Susan Harris Faraz Farzin Weeresak Chonchiaya David Hessl Jennifer Cogswell Agustini Utari Patrick Adams Michele Ono Sarah Coffey Dept. Radiology James Brunberg Dept. Pathology Claudia Greco Dept. Chemistry Carlito Lebrilla Hyun-Joo An Eric Dodds Dept. Neurology Lin Zhang Charles DeCarli Ricardo Maselli Grace Fenton-Farrell Farrell Dept of Psychiatry Jim Bourgeois Andreea Seritan Collaborators UC Davis School of Medicine Dept. Biochem & Molec. Medicine Paul Hagerman Flora Tassone Chris Iwahashi Anna Ludwig Dolores Garcia-Arocena Greg Mayeur Chris Raske Dept. Biostatistics Danh Nguyen University of Washington and UC Davis Fragile X Research Center NICHD Funded Charles Laird Mike Guralnick Gwen Glew University of Colorado Health Sciences Center (Denver) Maureen Leehey Deborah Hall James Grigsby RUSH-Presbyterian Presbyterian-St. Luke s s Medical Center (Chicago) Elizabeth Berry-Kravis Christopher Goetz Latrobe University, Melbourne Australia Danuta Loesch Richard Huggins Support: NICHD, NINDS, NIA, NFXF, CDC UC Davis M.I.N.D. Institute
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) an older face of the fragile X gene
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) an older face of the fragile X gene Fragile X Association of Australia August, 2015 Paul J Hagerman MD. PhD Professor, Department of Biochemistry and
More informationFragile X Syndrome & Recent Advances in Behavioural Phenotype Research Jeremy Turk
Fragile X Syndrome & Recent Advances in Behavioural Phenotype Research Jeremy Turk Institute of Psychiatry Psychology & Neurosciences, King s College, University of London Child & Adolescent Mental Health
More informationScientific Discoveries Allow Development of Targeted Therapeutics for Individuals with Autism Spectrum Disorders
Scientific Discoveries Allow Development of Targeted Therapeutics for Individuals with Autism Spectrum Disorders Randall L. Carpenter, M.D. Co-Founder, President and CEO August 9, 2012 Research Supported
More informationNeuren s trofinetide successful in proof of concept Phase 2 clinical trial in Fragile X syndrome
Neuren (NEU) - ASX Announcement 7 December 2015 Neuren s trofinetide successful in proof of concept Phase 2 clinical trial in Fragile X syndrome Highlights: Positive top-line results provide a strong rationale
More informationResearch Advances in Fragile X-X Associated Tremor/Ataxia Syndrome (FXTAS)
Research Advances in Fragile X-X Associated Tremor/Ataxia Syndrome (FXTAS) Stephen T Nowicki, MD, PhD Clinical Fellow, Developmental and Behavioral Pediatrics M.I.N.D. Institute University of California,
More informationHelping Patients and Families Understand Fragile X Syndrome
Transcript Details This is a transcript of an educational program accessible on the ReachMD network. Details about the program and additional media formats for the program are accessible by visiting: https://reachmd.com/programs/clinicians-roundtable/helping-patients-families-understand-fragile-xsyndrome/3474/
More informationTargeted Treatments for Au0sm: from Genes to Pharmacology
Targeted Treatments for Au0sm: from Genes to Pharmacology Paul Wang, MD Associate Clinical Professor of Pediatrics, Yale University School of Medicine Vice President for Clinical Development, Seaside Therapeu0cs,
More informationPsychopharmacology of Autism Spectrum Disorder
Psychopharmacology of Autism Spectrum Disorder Christopher J. McDougle, MD Director, Lurie Center for Autism Professor of Psychiatry and Pediatrics Massachusetts General Hospital and MassGeneral Hospital
More informationArbaclofen in fragile X syndrome: results of phase 3 trials
Berry-Kravis et al. Journal of Neurodevelopmental Disorders (2017) 9:3 DOI 10.1186/s11689-016-9181-6 RESEARCH Open Access Arbaclofen in fragile X syndrome: results of phase 3 trials Elizabeth Berry-Kravis
More informationMedications for Anxiety & Behavior in Williams Syndrome. Disclosure of Potential Conflicts. None 9/22/2016. Evaluation
Medications for Anxiety & Behavior in Williams Syndrome Christopher J. McDougle, M.D. Director, Lurie Center for Autism Professor of Psychiatry and Pediatrics Massachusetts General Hospital and MassGeneral
More informationPhase II and III drugs for the treatment of fragile X syndrome
Expert Opinion on Orphan Drugs ISSN: (Print) 2167-8707 (Online) Journal homepage: http://www.tandfonline.com/loi/ieod20 Phase II and III drugs for the treatment of fragile X syndrome Laura C Politte &
More informationWhat About Health 3: Challenging Behaviors
The title of this presentation is What About Health. I m. In this presentation I will discuss a number of health and mental health issues related to children with ASD. 1 Now I am going to switch to discussing
More informationPathways Toward Translational Research Programs for ASD. Helen Tager-Flusberg, Ph.D. Boston University NJ Governor s Council Conference April 9, 2014
Pathways Toward Translational Research Programs for ASD Helen Tager-Flusberg, Ph.D. Boston University NJ Governor s Council Conference April 9, 2014 ASD Research History For several decades research on
More informationFRAGILE X 101. A guide for the newly-diagnosed and those already living with Fragile X. fragilex.org
FRAGILE X 101 A guide for the newly-diagnosed and those already living with Fragile X. fragilex.org Introduction Most people first hear about Fragile X disorders when someone in their family is unexpectedly
More informationBehavior From the Inside Out. Marcia L Braden, PhD PC Licensed Psychologist Special Educator
Behavior From the Inside Out Marcia L Braden, PhD PC Licensed Psychologist Special Educator www.marciabraden.com Behavioral Profile Sensory Integration Disorder Anxiety Disorders, panic attacks Attention
More informationMedications in Autism: What We Know and Don't Know
Medications in Autism: What We Know and Don't Know Jeremy Veenstra-VanderWeele, M.D. Mortimer D. Sackler, M.D., Associate Professor Center for Autism and the Developing Brain Sackler Institute for Developmental
More informationPiecing the Puzzle Together: Pharmacologic Approaches to Behavioral Management in Autism Spectrum Disorder
Piecing the Puzzle Together: Pharmacologic Approaches to Behavioral Management in Autism Spectrum Disorder Hannah Sauer, PharmD PGY1 Pediatric Pharmacy Resident Mayo Clinic 2015 MFMER slide-1 Objectives
More informationearly intervention An intensive early intervention Researchers develop effective for young toddlers Research making hope a reality.
U C D A V I S M. I. N. D. I N S T I T U T E SPRING 2010 M E D I C A L I N V E S T I G A T I O N O F N E U R O D E V E L O P M E N T A L D I S O R D E R S Researchers develop effective early intervention
More informationCorporate Medical Policy
Corporate Medical Policy Genetic Testing for FMR1 Mutations Including Fragile X Syndrome File Name: Origination: Last CAP Review Next CAP Review Last Review genetic_testing_for_fmr1_mutations_including_fragile_x_syndrome
More informationBaseline characteristics influencing placebo response in clinical trials of treatments for fragile X syndrome
Boston University OpenBU Theses & Dissertations http://open.bu.edu Boston University Theses & Dissertations 2014 Baseline characteristics influencing placebo response in clinical trials of treatments for
More informationNew blood test measures levels of fragile X protein
NEWS New blood test measures levels of fragile X protein BY KELLY RAE CHI 22 SEPTEMBER 2009 1 / 8 C. Iwahashi A new molecular screen allows researchers to determine for the first time the precise amounts
More informationCircuit Changes in NDD
The Refractory Brain: Designing Drugs to Treat Challenging Disorders of the Central Nervous System Disclosure Statement financial relationships to disclose Molly Huntsman, PhD FRAXA Research Foundation:
More information11/2/2016 INSIDE THE MIND OF A CHILD PSYCHIATRIST: PROBLEM BEHAVIORS IN CHILDREN WITH AUTISM FACULTY DISCLOSURE
FACULTY DISCLOSURE INSIDE THE MIND OF A CHILD PSYCHIATRIST: PROBLEM BEHAVIORS IN CHILDREN WITH AUTISM KristinDawson, MD Assistant Professor University of Kentucky No commercial conflicts of Interest Salary
More informationJennifer Zarcone. Kennedy Krieger Institute and Johns Hopkins School of Medicine
Jennifer Zarcone Kennedy Krieger Institute and Johns Hopkins School of Medicine 1 2 Estimated that between 20% to 45% of people with autism and ID are taking psychotropic medication 14% 30% are taking
More informationFragile X targeted pharmacotherapy: lessons learned and future directions
Erickson et al. Journal of Neurodevelopmental Disorders (2017) 9:7 DOI 10.1186/s11689-017-9186-9 REVIEW Fragile X targeted pharmacotherapy: lessons learned and future directions Craig A. Erickson 1,2*,
More informationDementia Medications Acetylcholinesterase Inhibitors (AChEIs) and Glutamate (NMDA) Receptor Antagonist
Dementia Medications Acetylcholinesterase Inhibitors (AChEIs) and Glutamate (NMDA) Receptor Antagonist Medication Dosage Indication for Use Aricept (donepezil) Exelon (rivastigmine) 5mg 23mg* ODT 5mg Solution
More informationInvestor Presentation. 2 June 2017
Investor Presentation 2 June 2017 1 Forward looking statements This presentation contains forward looking statements that involve risks and uncertainties. Although we believe that the expectations reflected
More informationPopulation Screening for Fragile X Syndrome
Population Screening for Fragile X Syndrome FLORA TASSONE PH.D. DEPARTMENT OF BIOCHEMISTRY AND MOLECULAR MEDICINE AND MIND INSTITUTE UC DAVIS, CALIFORNIA USA Molecular Pathology: Principles in Clinical
More informationFragile X One gene, three very different disorders for which Genetic Technology is essential. Significance of Fragile X. Significance of Fragile X
Fragile X One gene, three very different disorders for which Genetic Technology is essential Martin H. Israel Margaret E. Israel mhi@wustl.edu meisrael@sbcglobal.net uel L. Israel Association of Genetic
More information+ Fragile X Tremor Ataxia Syndrome (FXTAS)
+ Fragile X Tremor Ataxia Syndrome (FXTAS) Le point de vue du neurologue n Gaëtan Garraux n CHU de Liège n www.movere.org + Background FXTAS was first described by Hagerman and coll. (2001) as they collected
More informationChallenging ASD Cases November 11, Melanie Penner, MD, MSc, Mohammad Zubairi, MD, MEd,
Challenging ASD Cases November 11, 2017 Melanie Penner, MD, MSc, FRCPC @drmelpenner Mohammad Zubairi, MD, MEd, FRCPC @md_mszubairi Learning Objectives By the end of this workshop, participants will: 1)
More informationAutism/Pervasive Developmental Disorders Update. Kimberly Macferran, MD Pediatric Subspecialty for the Primary Care Provider December 2, 2011
Autism/Pervasive Developmental Disorders Update Kimberly Macferran, MD Pediatric Subspecialty for the Primary Care Provider December 2, 2011 Overview Diagnostic criteria for autism spectrum disorders Screening/referral
More informationManaging maladaptive behaviors in fragile X patients. Psychotropics can improve hyperactivity, anxiety, and aggression. For personal use only
For mass reproduction, content licensing and permissions contact Dowden Health Media. Managing maladaptive behaviors in fragile X patients Psychotropics can improve hyperactivity, anxiety, and aggression
More informationPREPARED FOR: U.S. Army Medical Research and Materiel Command Fort Detrick, Maryland
AWARD NUMBER: W81XWH-11-1-0626 TITLE: Treatment of Fragile X Syndrome with a Neuroactive Steroid PRINCIPAL INVESTIGATOR: Randi Hagerman, M.D. CONTRACTING ORGANIZATION: University of California, Davis Sacramento,
More informationDisclosures. Autism Society of Wisconsin. Case 2. Case 1. Case 3. Case 4 3/29/2018. Medication treatment for people with Autism Spectrum Disorder
Medication treatment for people with Autism Spectrum Disorder Autism Society of Wisconsin April 20, 2018 Richard P. Barthel, M.D. Disclosures In accordance with the ACCME policy on relevant financial disclosure,
More informationFor personal use only
Investor Presentation 25 November 2016 1 Forward looking statements This presentation contains forward looking statements that involve risks and uncertainties. Although we believe that the expectations
More informationAggression (Severe) in Children under Age 6
Aggression (Severe) in Children under Age 6 Level 0 Comprehensive diagnostic assessments. Refer to Principles of Practice on page 6. Evaluate and treat comorbid conditions (i.e. medical, other psychiatric
More informationAlpha-2 Agonists. Antipsychotics
Table 5: Randomized Controlled Trials of Psychotropic Medications in Children and Adolescents with ASD Agent Study Target Symptoms Dose Demographics Significant Side Clonidine Guanfacine Jaselskis et al.,
More informationAdvances in understanding fragile X syndrome and related disorders Liesbeth Rooms and R. Frank Kooy
Advances in understanding fragile X syndrome and related disorders Liesbeth Rooms and R. Frank Kooy Department of Medical Genetics, University of Antwerp, Antwerp, Belgium Correspondence to Dr R.F. Kooy,
More informationThis fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing.
11111 Fact Sheet 54 FRAGILE X SYNDROME This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. In summary Fragile X is a condition caused
More informationPotential therapeutic interventions for fragile X syndrome
Review Potential therapeutic interventions for fragile X syndrome Josien Levenga, Femke M.S. de Vrij, Ben A. Oostra and Rob Willemsen CBG-Department of Clinical Genetics, Erasmus MC, Dr. Molewaterplein
More information8/23/2017. Chapter 21 Autism Spectrum Disorders. Introduction. Diagnostic Categories within the Autism Spectrum
Chapter 21 Overview Core features of autism spectrum disorders (ASDs) Studies seeking an etiology for ASDs Conditions associated with ASDs Interventions and outcomes Introduction ASDs Class of neurodevelopmental
More informationFRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME (FXTAS)
FRAGILE X CLINICAL & RESEARCH CONSORTIUM Consensus of the FXTAS Task Force and the Fragile X Clinical & Research Consortium FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME (FXTAS) First Published: June 2011
More informationFragile X Syndrome and Infertility Case Example - Not One, but Three
Vol. 008 Fragile X Syndrome and Infertility Fragile X Syndrome and Infertility Case Example - Not One, but Three Abstract A case review of a female patient who was treated for infertility of unknown reasons
More informationPublic Health Literature Review of Fragile X Syndrome
Public Health Literature Review of Fragile X Syndrome Melissa Raspa, PhD, a Anne C. Wheeler, PhD, a Catharine Riley, PhD, MPH b OBJECTIVES: The purpose of this systematic literature review is to describe
More informationNNZ-2566 in Rett Syndrome and Autism Spectrum Disorders Role and Update
NNZ-2566 in Rett Syndrome and Autism Spectrum Disorders Role and Update 1 Overview The natural growth factor IGF-1 is broken down in the body to IGF-1[1-3] NNZ-2566 is an analogue of IGF-1[1-3] developed
More information3/19/2018. Cynthia King, MD Associate Professor of Psychiatry UNMSOM. Autism Spectrum Disorder
Cynthia King, MD Associate Professor of Psychiatry UNMSOM Autism Spectrum Disorder 1 Identify three behavioral health concerns in ASD Identify three common families of medication that may be supportive
More information3/19/2018. Cynthia King, MD Associate Professor of Psychiatry UNMSOM
Cynthia King, MD Associate Professor of Psychiatry UNMSOM 1 2 Autism Spectrum Disorder 3 Identify three behavioral health concerns in ASD Identify three common families of medication that may be supportive
More informationFunding: NIDCF UL1 DE019583, NIA RL1 AG032119, NINDS RL1 NS062412, NIDA TL1 DA
The Effect of Cognitive Functioning, Age, and Molecular Variables on Brain Structure Among Carriers of the Fragile X Premutation: Deformation Based Morphometry Study Naomi J. Goodrich-Hunsaker*, Ling M.
More informationAutism 101: An Introduction for Families
Autism 101: An Introduction for Families Lindsey Miller, ARNP Rachel Montague, Ph.D. June 5, 2012 Overview of Presentation What are Autism Spectrum Disorders? Prevalence & causes Characteristics & related
More informationSusan M. Rivera, Ph.D.
Susan M. Rivera, Ph.D. Rivera, Susan M., Ph.D., Professor, Department of Psychology, College of Letters and Science, and Center for Mind and Brain Education B.A., Psychology, Indiana University, 1991 Ph.D.,
More informationAna Apolónio (ARSA)& Vítor Franco (U. Évora)
1 ᶳᶵ International Early Childhood Conference Eurlyaid Annual Conference 2012 Braga, 14.09.2012 Ana Apolónio (ARSA)& Vítor Franco (U. Évora) Projecto PTDC/CPE-CED/115276/2009 Fragile X Syndrome Most common
More informationRole of ADHD medication in children with autism spectrum disorder. Pieter Hoekstra University of Groningen, Netherlands
Role of ADHD medication in children with autism spectrum disorder Pieter Hoekstra University of Groningen, Netherlands Symptoms of ADHD are highly prevalent in children with ASD Two independent chart reviews
More informationThis guideline has not undergone previous surveillance.
Surveillance report 2016 Autism spectrum disorder in under 19s: support and management National Institute for Health and Care Excellence Surveillance programme Surveillance proposal consultation document
More informationASD Working Group Clinical Trial Design
Clinical Trial Design Lit Review Topics Clinical trials investigating co-occurring disorders or symptoms Co-morbidity/concomitant meds Context of trial other treatments at same time as drug, standardization
More information4/2/13 COMMON CLASSES OF MEDICATIONS. Child & Adolescent Behavioral Medicine & Medication Therapies. Behavioral Medicine & Medication Therapies
Child & Adolescent Behavioral Medicine & Medication Therapies Brian J Cowles, PharmD Associate Professor of Pharmacy Practice Albany College of Pharmacy & Health Sciences; Vermont Campus Behavioral Medicine
More informationFragile X-associated Tremor/Ataxia Syndrome (FXTAS) What our children teach us
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) What our children teach us IV Congreso Internacional del Síndrome X Frágil Associació Catalana SXF October 10, 2015 Paul J Hagerman MD. PhD Professor,
More informationInvestor Presentation. 3 April 2017
Investor Presentation 3 April 2017 1 Forward looking statements This presentation contains forward looking statements that involve risks and uncertainties. Although we believe that the expectations reflected
More information6/22/2012. Co-morbidity - when two or more conditions occur together. The two conditions may or may not be causally related.
Autism Spectrum Disorders and Co-existing Mental Health Issues By Dr. Karen Berkman Objective To present an overview of common psychiatric conditions that occur in persons with autism spectrum disorders
More informationIndex. Note: Page numbers of article titles are in boldface type. A ADHD. See Attention-deficit/hyperactivity disorder (ADHD) b-adrenergic blockers
Note: Page numbers of article titles are in boldface type. A ADHD. See Attention-deficit/hyperactivity disorder (ADHD) a-adrenergic blockers for PTSD, 798 b-adrenergic blockers for PTSD, 798 Adrenergic
More informationThe fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia
Clin Genet 2012 Printed in Singapore. All rights reserved Short Report 2012 John Wiley & Sons A/S CLINICAL GENETICS doi: 10.1111/j.1399-0004.2012.01899.x The fragile X-associated tremor ataxia syndrome
More informationPsychiatric Medications. Positive and negative effects in the classroom
Psychiatric Medications Positive and negative effects in the classroom Teaching the Medicated Child Beverly Bryant, M.D. Hattiesburg Clinic 9/17/14 Introduction According to the National Survey of Children
More informationMood Disorders for Care Coordinators
Mood Disorders for Care Coordinators David A Harrison, MD, PhD Assistant Professor, Dept of Psychiatry & Behavioral Sciences University of Washington School of Medicine Introduction 1 of 3 Mood disorders
More informationAutism Spectrum Disorder What is it?
Autism Spectrum Disorder What is it? Robin K. Blitz, MD Director, Developmental Pediatrics Resident Autism Diagnostic Clinic Lecture Series #1 Learning Objectives What can we talk about in 20 minutes?
More informationPotential Treatment and Current Research in Phelan-McDermid Syndrome. 11/16/2016 Frambu Center for Rare Disorders
Potential Treatment and Current Research in Phelan-McDermid Syndrome 11/16/2016 Frambu Center for Rare Disorders Genetics is Complicated! Deletion 22q13: Therapies Under Investigation Intranasal insulin
More informationTo do or not to do That is the question!
26/9/2 Dilemmas in prescribing in Developmental Disability Raja Mukherjee To misquote Shakespeare To do or not to do That is the question! Areas to consider Needs of Chidlren vs Adults Developmental disabilities
More informationAutistic Disorder. 26 September Dr. Ronnie Gundelfinger Zentrum für Kinder- und Jugendpsychiatrie Universität Zürich
Autistic Disorder 26 September 2014 Dr. Ronnie Gundelfinger Zentrum für Kinder- und Jugendpsychiatrie Universität Zürich Definition of the Autistic Disorder by Leo Kanner 1943 Autistic Disturbances of
More informationCHILD & ADOLESCENT PSYCHIATRY ALERTS, VOLUME XIV, 2012 INDEX
A Adderall Counterfeit, 31 addiction, internet CBT, 55 ADHD Adjunctive Guanfacine, 11 Counterfeit Adderall, 31 Developmental Trajectory and Risk Factors, 5 Dopamine Transporter Alterations, 14 Extended-Release
More informationGanaxolone as a Treatment for Drug-Resistant Epilepsy in Children
Ganaxolone as a Treatment for Drug-Resistant Epilepsy in Children ANTIEPILEPTIC DRUG and DEVICE TRIALS XIII May 13-15, 2015 Turnberry Isle Miami Hotel Gail M. Farfel, PhD Chief Development & Regulatory
More informationOhio Psychotropic Medication Quality Improvement Collaborative. Minds Matter. Toolkit. for You and Your Family. This is the property of
Minds Matter Ohio Psychotropic Medication Quality Improvement Collaborative Minds Matter Toolkit for You and Your Family This is the property of About Minds Matter Minds Matter is a project to help teens,
More informationCHILD & ADOLESCENT PSYCHIATRY ALERTS, VOLUME XV, 2013 INDEX
A acceptance and commitment therapy Posttraumatic Stress, 69 ADHD Adjunctive Fatty Acids, 5 Adjunctive Guanfacine Pharmacokinetics, 27 Amantadine, 21 Atomoxetine, 23 Cancer Risk, 31 CBT for Comorbid Anxiety,
More informationCHAPTER 1 INTRODUCTION
1 CHAPTER 1 INTRODUCTION 1.1. BACKGROUND Fragile X mental retardation 1 gene (FMR1) is located on the X chromosome and is responsible for producing the fragile X mental retardation protein (FMRP) which
More informationJP Morgan. January 2019
JP Morgan January 2019 Disclaimer THE STATEMENTS IN THIS PRESENTATION MAY INCLUDE FORWARD-LOOKING STATEMENTS WITHIN THE MEANING OF SECTION 27A OF THE SECURITIES ACT OF 1933, AS AMENDED, AND SECTION 21E
More informationMotor Abilities of Children Diagnosed With Fragile X Syndrome With and Without Autism
Dominican University of California Dominican Scholar Collected Faculty and Staff Scholarship Faculty and Staff Scholarship 1-2009 Motor Abilities of Children Diagnosed With Fragile X Syndrome With and
More informationFIBROMYALGIA. Leena Mathew, M.D. Director Pain Fellowship Associate Professor Department of Anesthesiology Columbia University
FIBROMYALGIA Leena Mathew, M.D. Director Pain Fellowship Associate Professor Department of Anesthesiology Columbia University disclosures I have no conflicts of interest objectives Be able to accurately
More informationThe Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) READ ONLINE
The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) READ ONLINE If you are searching for a ebook The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) in pdf form, then you have come on to correct
More informationZynerba Pharmaceuticals Announces New FAB-C Phase 2 Open-Label Data in Patients with Fragile X Syndrome
Zynerba Pharmaceuticals Announces New FAB-C Phase 2 Open-Label Data in Patients with Fragile X Syndrome - Significant Improvements in Behavioral Symptoms Observed in Patients and Sustained through 38 Weeks
More informationDevelopmental Disorders also known as Autism Spectrum Disorders. Dr. Deborah Marks
Pervasive Developmental Disorders also known as Autism Spectrum Disorders Dr. Deborah Marks Pervasive Developmental Disorders Autistic Disorder ( Autism) - Kanner Asperger Syndrome Pervasive Developmental
More informationThe Neurobiology of Psychiatric Disorders
The Neurobiology of Psychiatric Disorders Vikaas S. Sohal, MD PhD Department of Psychiatry Center for Integrative Neuroscience Sloan Swartz Center for Theoretical Neurobiology Overview 1. Classification
More informationAutism and Pervasive Developmental Disorders (PDD) # 01072
Autism and Pervasive Developmental Disorders (PDD) # 01072 What is it? Diagnoses Codes 299.0 299.91 CPT Codes G0151, G0153, H0032, H2019, H2021, S9128, 82136, 82139, 83655, 88245 88264, 90804 90809, 90810
More informationThe Mental Health and Wellbeing of Children and Adolescents who are affected by Autism and Related Disorders
The Mental Health and Wellbeing of Children and Adolescents who are affected by Autism and Related Disorders Charles Cartwright, M.D Director: YAI Autism Center March 2013 Autism Spectrum Defined by the
More informationNIH Public Access Author Manuscript J Clin Psychiatry. Author manuscript; available in PMC 2009 July 3.
NIH Public Access Author Manuscript Published in final edited form as: J Clin Psychiatry. 2009 June ; 70(6): 852 862. doi:10.4088/jcp.08m04476. Fragile X Premutation Disorders Expanding the Psychiatric
More informationAttention-Deficit/Hyperactivity Disorder Nathan J. Blum, M.D.
ADHD in Preschool Children Preschool ADHD: When Should We Diagnose it & How Should We Treat it? Professor of Pediatrics Diagnosis of ADHD in Preschool Children: Impact of DSM-IV Is Preschool ADHD Associated
More informationCenter For Autism and Neurodevelopmental Disabilities 3525 E Louise Dr Suite 250 Meridian, Idaho Phone: (208) Fax: (208)
Center For Autism and Neurodevelopmental Disabilities 3525 E Louise Dr Suite 250 Meridian, Idaho 83642 Phone: (208) 381-7312 Fax: (208) 381-7313 ABOUT YOUR CHILD: Today's Date Child's Name Name child goes
More informationTargeted therapies for fragile X syndrome: current state and future direction of clinical trials in humans
Targeted therapies for fragile X syndrome: current state and future direction of clinical trials in humans Clin. Invest. (2013) 3(7), 637 650 Fragile X syndrome (FXS) is the most common monogenetic and
More informationBipolar Disorder in Youth
Bipolar Disorder in Youth Janet Wozniak, M.D. Associate Professor of Psychiatry Director, Pediatric Bipolar Disorder Research Program Harvard Medical School Massachusetts General Hospital Pediatric-Onset
More informationFMR1 premutation and full mutation molecular mechanisms related to autism. Randi Hagerman, Jacky Au & Paul Hagerman
FMR1 premutation and full mutation molecular mechanisms related to autism Randi Hagerman, Jacky Au & Paul Hagerman Journal of Neurodevelopmental Disorders Advancing Interdisciplinary Research ISSN 1866-1947
More informationDisclosures. Sleep and Autism Update. Biological. Behavioral. Medical. Causes of Insomnia in ASD/NDD (or any child)
Sleep and Autism Update Beth A. Malow, M.D., M.S. Burry Chair in Cognitive Childhood Development Professor of Neurology and Pediatrics PI, Vanderbilt Autism Treatment Network Director, Vanderbilt Sleep
More informationReversing the Effects of Fragile X Syndrome
CLINICAL IMPLICATIONS OF BASIC RESEARCH Paul J. Lombroso, M.D., Marilee P. Ogren, Ph.D. Assistant Editors Reversing the Effects of Fragile X Syndrome MARILEE P. OGREN, PH.D., AND PAUL J. LOMBROSO, M.D.
More informationGenetic Testing for FMR1 Variants (Including Fragile X Syndrome)
Medical Policy Manual Genetic Testing, Policy No. 43 Genetic Testing for FMR1 Variants (Including Fragile X Syndrome) Next Review: February 2019 Last Review: February 2018 Effective: April 1, 2018 IMPORTANT
More informationUpdate on First Psychotic Episodes in Childhood and Adolescence. Cheryl Corcoran, MD Assistant Professor of Psychiatry Columbia University
Update on First Psychotic Episodes in Childhood and Adolescence Cheryl Corcoran, MD Assistant Professor of Psychiatry Columbia University Childhood-Onset Psychosis 8% of psychiatrically referred youth
More informationSchedule FDA & literature based indications
Psychotropic Medication List Recommended dosages are intended to serve only as a guide for children. Recommended doses are literature based. Clinicians should consult package insert of medications for
More informationPharmacological treatments for ASD
Behavioural and Developmental Psychiatry Clinical Academic Group (CAG) 18 June 2015 Pharmacological treatments for ASD Dr Grainne McAlonan Head of Research BDP CAG, King s Health Partners Reader (Clinical),
More informationAutism 202 for medical practitioners and other interested clinicians
Wednesday, 2:30 4:00, F2 Objectives: Notes: Autism 202 for medical practitioners and other interested clinicians Mary P. Sharp MD 517-290-2676 sharpmarymd@gmail.com 1. Identify advances in clinical assessment
More informationVeronika Borbélyová, MSc., PhD.
Veronika Borbélyová, MSc., PhD. borbelyova.veronika88@gmail.com History Eugen Bleuler autism (from the Greek words autos = self, ismus = orientation, status) the patient reduces the contact with the outside
More informationAn Autism Primer for the PCP: What to Expect, When to Refer
An Autism Primer for the PCP: What to Expect, When to Refer Webinar November 9, 2016 John P. Pelegano MD Chief of Pediatrics Hospital for Special Care Disclosures None I will not be discussing any treatments,
More informationBehavioral Health. Behavioral Health. Prescribing Guidelines
Behavioral Health Behavioral Health Prescribing Guidelines Attention Deficit/Hyperactivity Disorder (ADHD) Start with a first line medication, either from the methylphenidate or dextroamphetamine-amphetamine
More information1/26/2018 PREVENTING THE RETRAUMITIZATION OF CHILDREN FROM ADDICTED FAMILIES THE PROBLEM RISK FACTORS FOR ENDANGERMENT
PREVENTING THE RETRAUMITIZATION OF CHILDREN FROM ADDICTED FAMILIES Susan Kilman LCSW, AADC THE PROBLEM ABOUT 1 IN 8 (8.7 MILLION) AGED 17 OR YOUNGER LIVE IN HOUSEHOLDS WITH AT LEAST ONE PARENT WHO HAD
More information