FRAGILE X

SYNDROME

INTRODUCTION

Fragile X Syndrome (FXS) is syndrome that closely associated with the gene FMR1 that results in an intellectual disabilities as well as affects physical characteristic of the person.

OTHER NAMES USED FOR FRAGILE X SYNDROME FXS

FRAXA Syndrome

Fra(x) Syndrome

Marker X Syndrome

Martin-Bell Syndrome

X-linked Mental Retardation

Macroorchidism

CAUSES OF FXS FMR1 gene on the X chromosome makes a

protein called fragile x mental retardation protein (FMRP)

FMRP – protein required for normal neural development.

Range of repetition of CGG

Risk of having FXS

~6 – 44 Typical (normal)

~ 45 - 54 Intermediate

~ 55 – 200 Risk FXS (premutation/carrier)

> 200 Full mutation (FXS)

FXS depends on repetition CGG in FMR1 gene where:

* FMRP : Fragile X Mental Retardation Protein

INHERITANCE- MALE ARE MORE FREQUENTLY AFFECTED THAN FEMALES

MALE

XY chromosome (because there is only 1 X chromosome & easier to have FXS)

FEMALE

XX chromosome

(since there are 2 X chromosomes & more common to be a carrier of FXS)

Large testes (Macroorchidism) Large ears Long, narrow face Soft skin Poor eyesight Large body size Square chin Frontal bossing

PHYSICAL CHARACTERISTIC

• Developmental delays

• Mental retarded

• Learning disabilities

COGNITIVE (LEARNING & UNDERSTANDING)

Delayed speech Rapid, repetitive speech Poor conversation skills Good verbal imitative skills

SPEECH & LANGUAGES CHARACTERISTICS

Sleeping Mouth stuffing “picky” eaters Socialization Toilet training Over sensitivity to sounds Difficult to calm and comfort Excessive mouthing and drooling Playful (spinning objects, play with

exclusive toy, or part of toy)

COMMON DIFFICULTIES

MEDICAL CONCERNS

Ear infections Eye problems

Strabismus (inability to focus both eyes on an object)

Hyperopia (far-sightedness) High blood pressure (can be treated

with medication)

Diagnosis of FXS is made through genetic testing to determine the number of CGG repeats in FMR1 (carrier testing)

*Carrier testing: Carrier testing is used to identify who carry a copy of gene mutation or in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder.

DIAGNOSIS

TREATMENT There is NO SPECIFIC TREATMENT for FXS

Therapy Treatments

Speech-language therapists - improve their pronunciation of words and sentences, slow down their speech, and use language more effectively.

Occupational therapists - help find ways to adjust tasks and conditions to match a person’s needs and abilities.

Physical therapists - design activities and exercises that help build motor control and improve posture and balance.

Behavioural therapists try to understand why someone with Fragile X acts out, and they create ways and strategies for avoiding or preventing these situations from occurring while also teaching better or more positive ways to respond to situations.

However they are some symptoms that can be controlled by a medication such as attention deficit, hyperactivity, anxiety, and aggression.

PREVENTION Genetic counselling maybe helpful if a

couple have family background of this syndrome and are planning to have a baby.

REFERENCES http://www.docstoc.com/docs/105578229/Fragile-X-

Syndrome---PowerPoint http://www.fragilex.org/fragile-x-associated-disorders/

fragile-x-syndrome http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633 http://www.en.wikipedia.org/wiki/Fragile_X_syndrome http://www.sciencemuseum.org.uk/WhoAmI/

FindOutMore/Yourgenes/Whatcausesgeneticconditions/WhatisX-linkedinheritance/WhatisFragile-Xsyndrome.aspx

http://www.childrenhospital.org/az/Site1788/mainpageS1788P1.html

http://simpsonfamilychallenge.blogspot.com/2012/09/the-fragilest-x-planation-of-journey.html

http://www.whonamedit.com/synd.cfm/2071.html http://www.springerreference.com/docs/html/

chapterdbid/180078.html