Fragile X Syndrome

Olivia McAdams

An inherited Genetic condition,

in the X chromosome, that
causes developmental
deficiencies that could entail
learning disabilities, cognitive
impairment and physical
appearance abnormalities.

Chromosomes/ Genetic Mutation

A protein needed for brain development is not produced or a fairly small amount is.

Inheritance
-Most common known cause of inherited intellectual
disability.
-X-linked dominant pattern, disorder is located on the X
chromosome, one of the two sex chromosomes.
Women:
(who have two X chromosomes)
a mutation in one of the two copies of a
gene in each cell can cause the disorder.

Men:
In males (who have only one X
chromosome), a mutation in the only
copy of a gene in each cell causes the
disorder.

Physical Effects
-long and narrow face
- large ears
- a prominent jaw and forehead
- unusually flexible fingers
- flat feet
-enlarged testicles after puberty (males)
-soft, fleshy skin
-loose joints/ joint laxity) (Males)
-biting and temper tantrums

Mental Effects
Males:
-delayed development of speech and
language by age 2,
-mild to moderate intellectual disability
-anxiety
-seizures
-hyperactive behavior such as fidgeting or
impulsive actions
-Attention Deficit Disorder (ADD)
-poor coordination

Females:
-mild mental intellectual disability
-tremors
-poor coordination

Treatment
Sensory and perceptual processing impairment

psychological
occupational
physical
special education
speech therapy

Recent Findings

Lithium Titrated treatment

Facts
-1 in 4000 males are affected while 1
in 6000 females are.
-This is also the most common single
gene cause of autism. 60% of those with
Fragile X have an autism spectrum
disorder

-Detection: a blood test is done

asking for FX DNA, every easy to detect.
The test is not routinely done to see if one
is a carrier because there is simply not a
large enough need.

Living with Fragile X

Jonathan's story

References
Fragile X Syndrome. (2012, January 02). Retrieved February 04, 2016, from https://fragilex.org/fragile-x/fragile-xsyndrome/
Fragile X syndrome. (n.d.). Retrieved February 04, 2016, from http://ghr.nlm.nih.gov/condition/fragile-x-syndrome
Learning About Fragile X Syndrome. (n.d.). Retrieved February 04, 2016, from https://www.genome.gov/19518828
Make a Difference. (n.d.). Retrieved February 22, 2016, from http://www.specialolympics.
org/Sections/Who_We_Are/FragileX.aspx
Open-Label Treatment Trial of Lithium to Target the Underlyi... : Journal of Developmental & Behavioral Pediatrics. (n.
d.). Retrieved February 18, 2016, from http://journals.lww.
com/jrnldbp/Abstract/2008/08000/Open_Label_Treatment_Trial_of_Lithium_to_Target.7.aspx
Support fragile X research to solve another piece of the autism puzzle. (n.d.). Retrieved February 18, 2016, from https:
//www.autismspeaks.org/science/science-news/support-fragile-x-research-solve-another-piece-autism-puzzle
Treatments. (n.d.). Retrieved February 18, 2016, from http://fragilex.org.au/what-is-fragile-x/treatments/