PUZZLED PARENTS
(A RESOURCE & SUPPORT GROUP)
WE PUT FAMILIES & RESOURCES TOGETHER
We are a 501(c)(3) Non-profit Organization
We are an open support group, any disability or special need is welcome!!
Disability in the Spotlight
Disability in the Spotlight:
Fragile X Syndrome
Is a genetic disorder that is caused by a break or weakness on the long arm of the X chromosome. The gene where the break or weakness has occurred has been named FMR1. Because of the defect, the gene cannot make the protein that it normally makes which causes the features of the syndrome. It is estimated to occur in 1 in 1200 males & 1 in 2100 females. It occurs in all racial, ethinc, and social groups. It is on of the most common genetic diseases and is the most common inherited cause of learning disabilities known to exist. There are several physical and behavioral characteristics that are associated with Fragile X. Some of the most common are:
- long narrow face
- prominent jaw, ears & forehead
- flat feet
- mental impairment (ranging from high to low)
- ADHD and/or OCD
- Autistic like behaviors, handflapping, hand biting
- motor delays, seizures and heart murmur
Fragile X can be diagnosed by a DNA blood test developed in 1992. There is no cure for Fragile X however early intervention can be very beneficial. Speech, physical and occupational therapy can also be very effective and necessary. Individuals will be affected differently from mild to severe.
Go to www.nfxf.org or www.fraxa.org for more info.
info provided by www.specialchild.com
