1 sept 2008 · Fragile X syndrome (FXS), caused by a mutation in a specific gene on the X Examine the diagnosis, treatment, and management of FXPOI
Previous PDF | Next PDF |
[PDF] GUIDELINES OF CARE IN FRAGILE X SYNDROME
The guidelines for care involve the work of multiple professionals; the following is a guide for the evaluation and treatment for males and females affected by FXS
Diagnosis and Management of Fragile X Syndrome - American
1 juil 2005 · Clinical Presentation Although fragile X syndrome occurs in males and females, females generally present with milder symptoms The first
[PDF] Fragile X Syndrome - Orphanet
Management Genetics of Fragile X syndrome: Genetic Counseling Prenatal diagnosis Reference Abstract Fragile X syndrome is the most frequent cause of
[PDF] NIH Research Plan on Fragile X Syndrome and Associated - NICHD
1 sept 2008 · Fragile X syndrome (FXS), caused by a mutation in a specific gene on the X Examine the diagnosis, treatment, and management of FXPOI
[PDF] Handbook-FXD 3rd Edition - The National Fragile X Foundation
inherited cause of intellectual disabilities, fragile X syndrome occurs in both genders girls generally have less severe symptoms it can cause developmental
[PDF] Fragile X Syndrome - eviCore
Lab Management Guidelines v2 0 2019 Fragile X Syndrome Testing MOL TS 172 AZ v2 0 2019 Procedures addressed The inclusion of any procedure code in
[PDF] Fragile X-syndrome - Med Oral Patol Oral Cir Bucal
1 sept 2009 · Fragile X-syndrome: Literature review and report of two cases Lourdes The management plan included periodontal treatment, surgical
clinical report—health supervision for children with fragile x syndrome
25 avr 2011 · Fragile X syndrome (an FMR1–related disorder) is the most commonly critical importance for the diagnosis and management of affected pa-
[PDF] FRAGILE X SYNDROME - AAPorg
The overarching goal of the project regarding the early identification, management and treatment of fragile X syndrome (FXS) is to link pediatric clinicians with
[PDF] Stomatological aspects in fragile X syndrome cases - Medigraphic
Fragile X syndrome (FXS) is a genetic anomaly caused by excessive replication in the CGG considered the cornerstone of behavior management The present
[PDF] fragile x syndrome nursing care plan
[PDF] fragile x syndrome occupational therapy
[PDF] fragile x syndrome physical therapy
[PDF] fragile x syndrome presentation
[PDF] fragile x syndrome questions
[PDF] fragile x syndrome resources
[PDF] fragile x syndrome southern blot analysis
[PDF] fragile x syndrome symptoms in carriers
[PDF] fragile x syndrome symptoms in infants
[PDF] fragile x syndrome symptoms in newborns
[PDF] fragile x syndrome tests
[PDF] fragile x syndrome violence
[PDF] fragment sentence
[PDF] fragmented news
N
ATIONAL INSTITUTES OF HEALTH
R ESEARCH PLAN ON FRAGILE X SYNDROME AND ASSOCIATED DISORDERS SEPTEMBER 2008
U.S.DEPARTMENT OF HEALTH AND HUMAN SERVICES (DHHS)
NATIONAL INSTITUTES OF HEALTH (NIH)
P LAN DEVELOPED BY THE TRANS-NIH FRAGILE X RESEARCH COORDINATING GROUPAND SCIENTIFIC WORKING GROUPS
TABLE OF CONTENTS
EXECUTIVE SUMMARY ........................................................................ .................................. 1 ...... 2 FXSAND ASSOCIATED DISORDERS - OVERVIEW...................................................................... 3
FMR1 and FMRP........................................................................ ............................................ 3 Fragile X Syndrome (FXS).............................................. ........................................................ 4Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)...................................................... 4
Fragile X-associated Primary Ovarian Insufficiency (FXPOI).............................................. 5
NIH FRAGILE X AND ASSOCIATED DISORDERS RESEARCH ACTIVITIES............. 6 T HE NIH FRAGILE X SYNDROME RESEARCH COORDINATING GROUP (FXRCG)........................ 6NIH Fragile X Research Coordinating Group Membership.................................................. 7
H IGHLIGHTS OF ONGOING RESEARCH AT THE NIH ON FXS AND ASSOCIATED DISORDERS......... 7 NIH Collaborative Efforts...............................................National Institute on Aging (NIA)........................................................................
................... 9 Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)....................................................... ........................................ 9 National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)..................... 10National Institute of Mental Health (NIMH)........................................................................
10National Institute of Neurological Disorders and Stroke (NINDS)...................................... 11
RESEARCH PLAN ON FRAGILE X SYNDROME AND
ASSOCIATED DISORDERS........................................................................ ............................ 11 DEVELOPMENT OF THE RESEARCH PLAN........................................................................
........... 11 Charge to Working Groups........................................................................ ........................... 12 FXSAND ASSOCIATED DISORDERS WORKING GROUPS............................................................. 13
FXS Working Group ........................................................................ ..................................... 13 FXTAS Working Group........................................................................ ................................. 14 FXPOI Working Group........................................................................ ................................. 14RESEARCH AREAS AND OBJECTIVES........................................................................
...... 15FXS SUMMARY OF GOALS AND OBJECTIVES............................................................... 17
FRAGILE X SYNDROME (FXS)........................................................................ ..................... 19 G OAL 1 ʊ ADVANCE UNDERSTANDING OF THE PATHOPHYSIOLOGY OF FXS ........................... 19 G OAL 2 - IMPROVE APPROPRIATE AND TIMELY DIAGNOSIS OF I NDIVIDUALS WITH FXS BY CONDUCTING POPULATION-BASED SCREENING............................. 25 G OAL 3 ʊ VALIDATE AND USE FUNCTIONAL MEASURES OF THE MANIFESTATIONS OF FXS ACROSS THE LIFE SPAN................................................................... 28
G OAL 4 ʊ INITIATE A BROAD-BASED PROGRAM OF RESEARCH ON THE EFFICACY OF TREATMENTS FOR FXS........................................................................
................. 31 G OAL 5 ʊ ADVANCE UNDERSTANDING OF THE RAMIFICATIONS OF FXS FOR FAMILIES.......... 33 G OAL 6 ʊ CREATE A FXS RESEARCH INFRASTRUCTURE AND RESOURCES TO MAXIMIZE RESEARCH EFFICIENCIES AND PROMOTE LARGE-SCALE RESEARCH COLLABORATION............. 35 FXTAS SUMMARY OF GOALS AND OBJECTIVES.......................................................... 38FRAGILE X-ASSOCIATED TREMOR/A
TAXIA SYNDROME (FXTAS)........................ 42
GOAL 1 ʊ DEFINING PATHOGENIC MECHANISMS OF FXTAS................................................... 42
GOAL 2 ʊ DEFINING FXTAS CLINICAL PHENOTYPES.............................................................. 44
G OAL 3 ʊ EPIDEMIOLOGY OF FXTAS AND FMR1 PREMUTATION ALLELES............................ 46 G OAL 4 ʊ EARLY DIAGNOSIS/IDENTIFICATION OF INDIVIDUALS MOST A T RISK OF DEVELOPING FXTAS ........................................................................ ..................... 48 G OAL 5 ʊ SUPPORTIVE AND TARGETED THERAPEUTIC INTERVENTIONS FOR FXTAS.............. 49 GOAL 6 ʊ QUALITY-OF-LIFE ISSUES ASSOCIATED WITH FXTAS............................................. 52
G OAL 7 ʊ BROADER IMPLICATIONS FOR OTHER NEURODEGENERATIVE DISEASES.................. 54 G OAL 8 ʊ ESTABLISHING A GENERAL RESEARCH INFRASTRUCTURE FOR FXTAS................... 56 FXPOI SUMMARY OF GOALS AND OBJECTIVES.......................................................... 60 FRAGILE X-ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY (FXPOI)............ 62 GOAL