~gross and fine motor skill delays
~speech and language delays
~learning and behavior problems
~hypo or hypersensitivity
~cognitive and mental impairment
Copyright 2006 The Observer. Source: Financial Times Information Limited - Europe Intelligence Wire.
The Top Ten Things You Should Know About Fragile X Syndrome:
by Mary Beth Langan and Sally Nantais, July 2006
- It's genetic.
- If a woman is a carrier, she has a 50/50 chance of passing it on to her son(s) or daughter(s). 1 in 100 to 200 women are carriers **.
- If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. 1 in 800 men are carriers.
- Fragile X Syndrome does not discriminate; it doesn't care which ethnic group you belong to.
- Fragile X Syndrome is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).
- Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.
- Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which sadly is often misdiagnosed as Parkinson's and/or Alzheimer's. This condition is present in some older FXS carriers (typically after the age of fifty), usually in males but FXTAS can also affect female carriers.
- There are minor physical traits noted in many persons with Fragile X Syndrome, but not in all. These are traits which may also be present within the typical population, nothing unique which would necessarily indicate FXS testing is necessary for your child.
- When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered - the Fragile X DNA (Southern Blot) and Polymerase Chain Reaction (PCR) tests. Inaccurate results occur far too often with the generic chromosomal panel. Test for FXS to obtain a diagnosis or to rule it out. If you don't have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it's found.
- Where to go for the most accurate and up-to-date information on fragile X syndrome:
http://www.fragilex.org/, the National Fragile X Foundation
http://www.fraxa.org/, Fraxa Research Foundation
- X Stories: The Personal Side of Fragile X; by Charles W. Luckmann and Paul S. Piper (I found this really tough to get through. Not recommended for the newly diagnosed and still adjusting.)
- My Brother Has Fragile X by Charles Steiger (A great positive story for children!)
- The Oak Leaves by Maureen Lang (Totally recommended for the newly diagnosed. Excellent story. Fiction, but tells the story of Fragile X better than anything else I've read.)
Fragile X Resources
(This list was compiled by Sally Nantais, I just copied it.)
Your Genes Your Health
http://www.ygyh.org/ - fragile X page
FRAXA Research Foundation
The National Fragile X Foundation
http://www.genetests.org/ - a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. Select “GeneReviews” do a search on FMR1 or FRAGILE X to pull up information on Fragile X
Dr. Marcia Braden – when it comes to behavior Dr. Braden is an expert.
First Down Towards a Cure
Fragile X - Hitting the mark
Living with Fragile X – a documentary
In layman's terms:
Time Article – Fragile X: Unraveling Autism's Secrets
Time Article – A new approach to correcting autism
Promise Seen in Drug for Retardation Syndrome
Advances in the treatment of Fragile X Syndrome
Medication Guide for Fragile X
The Fragile X Research Registry