Scribd
Upload
153 views11 pages

Fragile X Syndrome

Fragile X syndrome is an inherited genetic condition caused by a mutation on the X chromosome that leads to developmental delays, cognitive impairments, and sometimes distinctive physical features. It is the most common known cause of inherited intellectual disability. The mutation causes a lack of a protein needed for brain development. Males typically experience more severe effects than females. Treatment focuses on managing symptoms through educational, psychological, physical and speech therapies. Lithium treatment has shown promise in recent studies.

Uploaded by

api-310316770
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
153 views11 pages

Fragile X Syndrome

Fragile X syndrome is an inherited genetic condition caused by a mutation on the X chromosome that leads to developmental delays, cognitive impairments, and sometimes distinctive physical features. It is the most common known cause of inherited intellectual disability. The mutation causes a lack of a protein needed for brain development. Males typically experience more severe effects than females. Treatment focuses on managing symptoms through educational, psychological, physical and speech therapies. Lithium treatment has shown promise in recent studies.

Uploaded by

api-310316770
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 11

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/

You might also like