inherited cause of intellectual disabilities, fragile X syndrome occurs in both genders girls generally have less severe symptoms it can cause developmental
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[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
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FrAGIle X-ASSoCIATeD
DISorDerS (FX
D a Handbook for Families,Health care Providers,
counselors, and educatorsIntroduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .1
Section 1: Genetics of Fragile X-Associated Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .2
c ase s cenario of a Family. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3
c ells, c hromosomes, g enes, and d N a . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3Figure 1: Chromosomes and the Cell
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .4Figure 2: Female and Male Chromosomes
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .5 t he Fragile X g ene - FM r 1. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .5
Figure 3: Fragile X Chromosome Under a Microscope. . . . . . . . . . . . . . . .6 FM r 1 g ene c ategories. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .6
Figure 4: The FMR1 Gene and FMR1 Mutation Sizes
. . . . . . . . . . . . . . . .8How Fragile X
i s inherited. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .8
Figure 5: Fragile X Inheritance. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .9
Section 2:
Clinical Symptoms
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10
Fragile X
syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10
Chart: Common Features of Fragile X Syndrome
. . . . . . . . . . . . . . . . . . . . . .10Females With a Full Mutation
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .11
c ommon r esponses to a d iagnosis of FX s . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .11Fragile X-
a ssociated Primary o varian i nsufficiency. . . . . . . . . . . . . . . . . . . . . . . .12Fragile X-
a ssociated t remor/ a taxia s yndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .13 t esting for Fragile X. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .14
Section 3: Treatments for Fragile X-Associated Disorders. . . . . . . . . . . . . . . . . . . . . .16
Fragile X
syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .16
Fragile X-
a ssociated Primary o varian i nsufficiency. . . . . . . . . . . . . . . . . . . . . . . .17Fragile X-
a ssociated t remor/ a taxia s yndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18 c linics for Fragile X- a ssociated d isorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18 r eproductive o ptions for carriers. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18
s upport From the NFXF. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .19
taBle oF ContentS