 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.
 FXS

 FRAXA Syndrome

 Fra(x) Syndrome

 Marker X Syndrome

 Martin-Bell Syndrome

 X-linked Mental Retardation

 Macroorchidism
 FMR1 gene on the X chromosome makes a protein
called fragile x mental retardation protein (FMRP)
 FMRP – protein required for normal neural
development.
 FXS
depends on repetition CGG in FMR1 gene
where:
Range of repetition of Risk of having FXS
CGG
~6 – 44 Typical (normal)
~ 45 - 54 Intermediate
~ 55 – 200 Risk FXS (premutation/carrier)
> 200 Full mutation (FXS)
* FMRP : Fragile X Mental Retardation Protein
 MALE FEMALE

XY chromosome XX chromosome

(because there is (since there are 2 X

only 1 X chromosomes &
chromosome & more common to be
easier to have FXS) a carrier of FXS)
 Large testes
(Macroorchidism)
 Large ears
 Long, narrow face
 Soft skin
 Poor eyesight
 Large body size
 Square chin
 Frontal bossing
•Developmental delays
•Mental retarded
•Learning disabilities

 Delayed speech
 Rapid, repetitive speech
 Poor conversation skills
 Good verbal imitative skills
 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)
 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.
 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.
 Genetic counselling maybe helpful if a
couple have family background of this
syndrome and are planning to have a baby.
 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/mainpageS
1788P1.html
 http://simpsonfamilychallenge.blogspot.com/2012/09/th
e-fragilest-x-planation-of-journey.html
 http://www.whonamedit.com/synd.cfm/2071.html
 http://www.springerreference.com/docs/html/chapterdb
id/180078.html
THANK YOU FOR
LISTENING AND
WATCHING