[PDF] [PDF] Handbook-FXD 3rd Edition - The National Fragile X Foundation

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FrAGIle X-ASSoCIATeD

D

ISorDerS (FX

D a Handbook for Families,

Health care Providers,

counselors, and educators

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .1

Section 1: Genetics of Fragile X-Associated Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .2

c ase s cenario of a Family

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c ells, c hromosomes, g enes, and d N a . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3

Figure 1: Chromosomes and the Cell

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Figure 2: Female and Male Chromosomes

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .5 t he Fragile X g ene - FM r 1

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Figure 3: Fragile X Chromosome Under a Microscope. . . . . . . . . . . . . . . .6 FM r 1 g ene c ategories

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Figure 4: The FMR1 Gene and FMR1 Mutation Sizes

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How Fragile X

i s i

nherited. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .8

Figure 5: Fragile X Inheritance. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .9

Section 2:

Clinical Symptoms

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Fragile X

s

yndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10

Chart: Common Features of Fragile X Syndrome

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Females With a Full Mutation

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c ommon r esponses to a d iagnosis of FX s . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .11

Fragile X-

a ssociated Primary o varian i nsufficiency. . . . . . . . . . . . . . . . . . . . . . . .12

Fragile X-

a ssociated t remor/ a taxia s yndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .13 t esting for Fragile X

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Section 3: Treatments for Fragile X-Associated Disorders. . . . . . . . . . . . . . . . . . . . . .16

Fragile X

s

yndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .16

Fragile X-

a ssociated Primary o varian i nsufficiency. . . . . . . . . . . . . . . . . . . . . . . .17

Fragile 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 c

arriers. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18

s upport From the NFXF

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taBle oF ContentS

First Printing: September 2009

Fragile X-associated Disorders (FXD) are a group of related genetic conditions that can affect family members in different ways o ne of the conditions, fragile X syndrome (FX S ), is the most well-known FX S can affect both genders, though it occurs more frequently and tends to be more severe in males T he other Fragile X-associated D isorders are fragile

X-associated primary ovarian insufciency (FXp

oI which affects women, and fragile X-associated tremor/ ataxia syndrome (FX TAS ), an adult onset neurological disorder that affects more males than females T he changes in the Fragile X gene that cause FX D can be passed on in a family by individuals with no signs of a Fragile X condition I n some families, multiple family members can be affected over generations, while in others one of the conditions has been known to occur in only one individual T he genetic and emotional aspects of an FX D diagnosis are often far-reaching and can affect the lives of many family members T his handbook is for families, health care providers, counselors, educators, and all those wishing to learn about FX D. I t describes all three conditions in detail, including features and symptoms, genetic information, testing, and currently available treatments Handbook authors liane J. . abrams, Ms, cgc, NFXF genetic specialist, and Jayne dixon Weber, NFXF support services coordinator the NFXF also extends warm appreciation to allyn Mcconkie-rosell, Phd, c gc, Brenda Finucane, Ms, cgc, and gail Harris-schmidt, Phd, for reviewing an d contributing to this handbook, and to parent representatives from our faithful parent network for their helpful feedback. .

INTRODUCTION

1

Fragile what?

Many people have never heard of Fragile X-associated d isorders before someone in the family is diagnosed with one i t is possible you have been concerned about your child's development for some time now and just received a diagnosis of FX s. . o r maybe you have been unsuccessful in getting pregnant and found out you are a Fragile X "carrier " Maybe you have an older male relative who has tremors, memory loss or balance problems and you are starting to wonder about the cause l et's look at the different Fragile X-associated d isorders:

Fragile X syndrome (FXs): the most common

inherited cause of intellectual disabilities, fragile X syndrome occurs in both genders g irls generally have less severe symptoms i t can cause developmental and language delays, learning impairment, and behavioral and mental health issues i ndividuals with FX s have a form of the Fragile X gene called a "full mutation Fragile X-associated primary ovarian insufficiency (FXPoi): a cause of infertility, early menopause and other ovarian problems in women of reproductive age who are Fragile X carriers c arriers have a form of the

Fragile X gene called a "premutation

Fragile X-associated tremor/ataxia syndrome (FXtas): an adult onset (over age 50) neurological condition that can cause balance and memory problems, tremors and other neurological and psychiatric symptoms in

Fragile X carriers

i t is more common in males than females FX tas is also caused by a Fragile X premutation i n some families only one of these conditions may occur, while in others, all three conditions can occur in related family members

SECTION I

2

Genetics of Fragile X-Associated Disorders

CASe SCenArIo oF A FAmIly

d eborah and t om have two children, l inda and Michael

Michael was a

fussy baby and didn't walk until he was 20 months old

He is a sweet boy, but

he often gets overwhelmed in group situations

His speech was also delayed,

and when he was two and a half his pediatrician referred him to a genetics clinic a t the clinic he was tested for fragile X syndrome and was confirmed to have it d eborah was then tested and found to be a Fragile X carrier a t about the same time, d eborah's sister Janie was trying to start a family, but was having difficulty conceiving s he had just made an appointment with an infertility specialist when d eborah called with her news about being a carrier d eborah told Janie that some Fragile X carriers have infertility, so

Janie asked her doctor to test her

s he then found out she is also a carrier i n genetic counseling, the sisters learned that one of their parents must be a carrier Not so coincidentally, their father had recently been diagnosed with

Parkinson's disease

He also seemed to be increasingly forgetful

t hen they read that these could be features of a neurological condition that occurs in some male (and less frequently, female) Fragile X carriers

Within a short time

period, the family had gone from never having heard about FX d to quickly learning that multiple family members were directly affected e ven though they were facing many challenges, they were finally getting some answers to why they were having these different but related problems Cell S , Chromo S ome S , Gene S A n D D n A t he Fragile X gene can be passed on in families by and to people of either gender who have no obvious signs of FX d. .quotesdbs_dbs17.pdfusesText_23

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