Fragile X Syndrome

Disability Presentation

Fragile X Syndrome

By: Kendall Kauffman

EDU 213

Professor Sabol

Fun Fact: People with Fragile X syndrome have numerous strengths! Many love to help others, have a great memory and a great sense of humor.

What is Fragile X Syndrome?

An inherited condition characterized by an X chromosome that is abnormally susceptible to damage, especially by folic acid deficiency. Affected individuals tend to have limited intellectual functions.

Symptoms

-Symptoms can be mild or more severe. Boys often have a more serious form of it than girls.

~Trouble learning skills like sitting, crawling, or walking

~Problems with language and speech

~Hand-flapping and not making eye contact

~Temper tantrums

~Poor impulse control

~Anxiety

~Extreme sensitivity to light or sound

~Hyperactivity and trouble paying attention

~Aggressive and self-destructive behavior in boys

What does a child look like that has Fragile X Syndrome?

A large head

A long, narrow face

Large ears

A large forehead and chin

Loose joints

Flat feet

Enlarged testicles (after puberty)

How is Fragile X Syndrome Diagnosed?

~Tests can be done during a mother's pregnancy to see if the baby has fragile X.

~ Doctors will test for Amniocentesis -- They would check a sample of amniotic fluid for the FMR1 gene change.

~ Doctors can also test for Chrionic villus sampling (CVS) -- They would have to test a sample of cells from the placenta to check for the FMR1 gene.

~After the child is born, a blood test can be taken to diagnose fragile X syndrome. This test also looks for the FMR1 gene change.

~Babies born with fragile X syndrome don't always show signs of it right away. The doctor might notice that the baby's head is larger than usual. As the child gets older, the learning and behavior problems will start.

Is there a treatment or cure to Fragile X Syndrome?

~There is no medicine to cure Fragile X.

~There are however medicines to help prevent seizures and other hyperactivity available.

~There are treatments that can be used to to more easily manage problem behavior, such as therapy.

Education

~Special education in schools is offered to help with learning. Examples include IEPs and 504s.

~Speech and language therapy

~Occupational therapy to help with daily tasks

References

WebMD. (n.d.). Fragile X syndrome: Symptoms, causes, diagnosis, and treatment. WebMD. Retrieved December 2, 2021, from https://www.webmd.com/children/what-is-fragile-x-syndrome.

31 Shareable Fragile X Facts. National Fragile X Foundation. (2021, October 27). Retrieved December 2, 2021, from https://fragilex.org/understanding-fragile-x/fragile-x-101/31-shareable-fragile-x-facts/.

U.S. National Library of Medicine. (2020, August 18). Fragile X Syndrome: Medlineplus Genetics. MedlinePlus. Retrieved December 2, 2021, from https://medlineplus.gov/genetics/condition/fragile-x-syndrome/#:~:text=Fragile%20X%20syndrome%20is%20a,and%20language%20by%20age%202.