Fragile X Syndrome


What is it?

A genetic disorder which is the most common form of inherited cognitive disability. It is a sex-linked genetic abnormality in which a mother is a carrier, and transmits the disorder to her sons.

Cause?

Fragile X Syndrome (FXS) is caused by an inherited abnormality of the X chromosome.

Characteristics:
Physical Characteristics MAY include:
Photo of a boy I worked with who has Fragile X Syndrome and I, taken at a summer camp we attended a few years ago.
  • large or prominent ears
  • pointed jaw
  • large testes
  • prominent forehead
  • long narrow face
  • hyperextensive joints
  • high arched palate
  • frequent ear infections
  • crossed eyes
  • seizures
  • allergies

If there is an abnormality in the connective tissues, frequent findings include:
  • double-jointed fingers
  • flat feet
  • heart murmur (due to a floppy valve)


Developmental Characteristics MAY include:
  • developmental delay (cognitive disabilities)
  • learning disability
  • language delay
  • motor delay
  • weaknesses may include: sequential processing, auditory processing, problem solving, abstract reasoning
  • strengths may include: visual perception memory, imitation
Approximately 20% of males who carry the fragile X gene are intellectually average; and approximately 1/3 of females who carry the fragile X gene have some degree of mental impairment. The remaining 2/3 have average IQ's but may have subtle learning disabilities.

Behavioural and Sensory Integration Dysfunction Characteristics MAY include:
  • hyperactivity
  • attentional deficit
  • autism or autistic features
  • hypersensitivity to the environment
  • overreaction or indirection to noise, touch, odours, tastes, visual stimuli
  • Severe speech and language delays
  • echolalia (repeats word or phrase)
  • perseveration (repeats idea)
  • poor language content
  • emotional problems
  • social problems
  • low muscle tone
  • toe walking
  • shyness and withdrawal (more common in females)
Behaviour ranges from socially engaging and friendly to autistic-like behaviour and/or rare violent outbursts. Individuals with FXS can become easily overwhelmed by excessive sensory stimuli such as crowds or an irritating noise. Some common autistic-like behaviours that some people with FXS may show are poor eye contact, hands flapping and hand biting, and fascination with spinning objects.

Diagnosis?

Briefly, FXS derives its name from the presence of an unusual chromosome finding called the fragile site. This site describes a site on the long arm of the chromosome which is prone to breakage. I won't go into the genes and chromosomes and prinicples of X-linked inheritance, but you can find that information from the Fragile X Syndrome foundation. (Address below)

Incidence?

FXS affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males who have this syndrome typically have a moderate to severe form of intellectual disability. Females may also be affected but generally to a milder degree.

Treatment?

Right now there is no cure, but treatment is available! It is mainly provided through various forms of therapy (which may include special education, speech and language therapy, and occupational therapy). Learning strengths and weaknesses, specific beahviour problems, and medical needs must all be evaluated in order to provide the proper care to each individual. Consult the professionals in order to evaluate the person's needs.

Resources:

The National Fragile X Foundation
1441 York Street, Suite 215
Denver, Colorado 80206
1-800-688-8765

Web Links:

Fragile X Syndrome
National Fragile X Foundation
The ARC's FAQ on FXS


I'm still in the process of adding web links to this page. If you have any to add, please let me know! Thanks! :)


Info from the National FXS Foundation pamphlets

Please read this disclaimer.

Comments

Main Page| Welcome| Disabilities| Education Resources| Support| About Author
| Message Board|

[Sign My Guestbook][ View My Guestbook] [Guestbook by GuestWorld]