Fragile X Syndrome

Alysha Reece
Etiology
Fragile X syndrome is a genetic predisposition that causes cognitive impairment and is
connected to learning disabilities. (USA.gov, 2012) Fragile X also affects males more than
females because they only have one X chromosome, whereas females have two X chromosomes
and can still carry the disability but not show any signs. Fragile X was first discovered in 1943,
but there were no concrete tests to find it was only known that it was an X linked condition
(FriendsforFragileX, 2010). In 1969 Herbert Lubs had developed the first chromosomal test that
would show Fragile X, and in 1991 the FMR1 gene was shown to be the one that causes Fragile
X (FriendsforFragileX, 2010).
Definition of Fragile X
There are three different types of Fragile X, these are cause by a mutation in the same
FMR1 gene:
Fragile X Syndrome (FXS): This is the most common form of Fragile X, and the most common
cause of inherited mental impairment. Fragile X is also one of the causes for autistic-like
behaviour. (FriendsforFragileX, 2010)
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): This syndrome causes problems with
balance, can cause a tremor and affect memory in older male carriers. (FriendsforFragileX, 2010)
Fragile X- Associated Primary Ovarian Insufficiency (FXPOI): This syndrome can cause
problems with the ovaries leading to infertility and early menopause. (FriendsforFragileX, 2010)

Physical Attributes of Fragile X

Fragile X does not have many defining attributes but there are a few physical deformities
that it can cause such as low muscle tone, a long and narrow face, bigger ears (in older males),
high palate and heart murmur (The Fragile X Association of Australia, 2016).
Intellectual Traits of Fragile X
Fragile X is more of an intellectual disability than physical so there are more intellectual
problems with this syndrome. One of the main symptoms of Fragile X in female carriers is the
feeling of anxiety and shyness (FriendsforFragileX, 2010). More of the prominent intellectual
problems are in the male carriers these include difficulty with fine motor skills, learning
disabilities, difficulty with speech and communication skills, and difficulty with coordination
(The Fragile X Association of Australia, 2016) It is still being researched how Fragile X affects
the brain, but there is research that points to people with Fragile X not having enough working
pathways in their brain. FMRP (Fragile X Mental Retardation Protein) is a protein found in the
brain that is essential for normal brain function, and not having enough causes our brain not to
erase unimportant things during development so our brain has too many pathways (Medicine
Net, 1996).
Behavioural Traits
Fragile X does also cause quite a few behavioural issues such as aggression, repetitive
speech, difficulty keeping eye contact, ADHD and autistic-like behaviours (The Fragile X
Association of Australia, 2016)

Prevention
As of right now there are no definite cures for Fragile X but there is research being done
to see if there are things that can prevent it. One of the tests that you can do even before the baby
is born would be a prenatal screening to see if they have the gene for Fragile X (National Fragile
X Foundation, 1998).
Forms of Treatment
There are a few forms of treatment that may ease the symptoms of Fragile X Syndrome. There
are all kinds of therapies for every symptom of Fragile X. Occupational therapy for the poor
muscle tone, speech and language therapy for communication skills and behavioural therapies
for any of the behavioural issues that Fragile X causes (FriendsforFragileX, 2010). There are also
medicinal ways of treating Fragile X such as Ritalin for ADHD (FriendsforFragileX, 2010).

References
USA.gov. (April 2012). Genetics home reference. Fragile X syndrome. Retrieved from
https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
National Fragile X Foundation. (1998). Fragile X associated disorders. Reproductive options.
Retrieved from https://fragilex.org/fragile-x/carriers/reproductive-options/
The Fragile X Association of Australia. (2016). What is fragile x? Symptoms and characteristics.
Retrieved from http://fragilex.org.au/what-is-fragile-x/symptoms-and-charateristics/
Friends for Fragile X. (2010). About fragile X. What is fragile X? Retrieved from
http://www.friendsforfragilex.org/fragile-x/about-fragile-x.php

MedicineNet.com. (1996). Fragile X syndrome. How does fragile X affect the brain? Retrieved f
rom http://www.medicinenet.com/fragile_x_syndrome/page8.htm