FATHER SATURNINO URIOS UNIVERSITY

San Francisco St. Butuan City 8600, Region XIII

Caraga, Philippines Nursing
Program

FRAGILE X SYNDROME

DEFINITION
Fragile X Syndrome is the most common inherited form of mental
retardation. It results from a change, or mutation, in a single
gene, which can be passed from one generation to the next.
Fragile X appears in families of every ethnic group and income
level.
RISK FACTOR
You are at greater risk if you have: A family history of fragile
X syndrome. A family history of mental retardation,
developmental delay or autism of unknown cause. Infertility
problems associated with elevated follicle stimulating hormone
(FSH) levels or premature ovarian failure (POF).
CAUSES
Fragile X syndrome is caused by a change in the fragile X mental
retardation (FMR1) gene. The FMR1 gene is located on the X
chromosome. This abnormal gene, which can be passed from
generation to generation, is usually inherited through the gene
that is carried by women.
A fragile X carrier is someone who has an altered FMR1 gene, but
does not show any obvious signs or symptoms of fragile X
syndrome. Women who are fragile X carriers have up to a 50
percent chance of having a child with fragile X syndrome. Men
who are fragile X carriers will pass the altered gene to all of
their daughters but none of their sons. Daughters of carrier
men are expected to be intellectually normal but are at risk of
having children affected with fragile X syndrome.
The genetics of fragile X syndrome are complicated. Genetic
counseling is recommended when someone has a family history of
fragile X syndrome or is shown to be a carrier of fragile X

SIGNS AND SYMPTOOMS

Behavioral problems associated with fragile X Syndrome include:
 Delay in crawling, walking, or twisting
 Hand clapping or hand biting
  Impulsive behavior
 Mental retardation
 Speech and language delay
 Tendency to avoid eye contact

Physical signs may include:

 Flat feet
 Flexible joints and low muscle tone
 Large body size
 Long face
 Soft skin

TREATMENT
There is no specific treatment for Fragile X syndrome. Instead,
training and education have been developed to help affected
children function at as high a level as possible.
Early intervention services help children from birth to 3 years
old (36 months) learn important skills. These services may
improve a child’s development. Even if the child has not been
diagnosed with FXS, they may be eligible for services. These
services are provided through an early intervention system in
each state. Through this system, you can ask for an evaluation.
In addition, treatment for particular symptoms, such as speech
therapy for language delays, often does not need to wait for a
formal diagnosis. While early intervention is extremely
important, treatment services at any age can be helpful

REFERENCES
Carrier Testing for Fragile X Syndrome. Retrieved from
https://www.ucsfhealth.org/education/faq-carrier-testing-for-
fragile-x-syndrome
Presentation on Fragile X Syndrome (2019). Retrieved from
https://slideplayer.com/slide/13460922/
How to Recognize the Symptoms of Fragile X Syndrome (2022).
Retrieved from https://www.wikihow.com/Recognize-the-Symptoms-
of-Fragile-X-Syndrome
Centers for Disease Control and Prevention Fragile X Syndrome.
Retrieved from https://www.cdc.gov/ncbddd/fxs/facts.html