HOW DO WE GET STARTED WITH THIS?
Fragile X Syndrome (FXS). (2018, August 09). Retrieved from https://www.cdc.gov/ncbddd/fxs/data.html
Partington, M. W., Robinson, H., Laing, S., & Turner, G. (2005, June 07). Mortality in the fragile X syndrome: Preliminary data. Retrieved from https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.1320430118
Symptoms and Characteristics. (n.d.). Retrieved from https://fragilex.org.au/what-is-fragile-x/symptoms-and-charateristics/What causes Fragile X Syndrome. (n.d.). Retrieved from https://fragilex.org.au/what-is-fragile-x/what-causes-fragile-x/
WHO WE ARE
Phone: 519-854-5294Email: [email protected]
fragile x syndrome
WHAT IS FRAGILE X SYNDROME?
Fragile X Syndrome is otherwise known as Martin- Bell Syndrome. It is an inherited intellectual disability that includes diverse intellectual, behavioral and other characteristics.
The gene responsible for developing fragile x is called fragile x mental retardation 1(FMR1) gene. It is caused by the expansion or lengthening of the FMR1 gene on the x chromosome which is known as a gene mutation.
SIGNS AND SYMPTOMS
Behavioral and emotional features:
Attention deficit hyperactivity disorder (ADHA), autistic type behaviors, anxiety and Shyness, aggression, repetitive speech, difficulty in maintain eye contact, tactile defensiveness, poor adaptation to changes in routine
Developmental delay, learning difficulties, intellectual disability, speech and communication difficulty, difficulty with coordination, difficulty with fine and gross motor skills
Soft and fleshy skin, large body size, long face, large prominent ears, flat feet, strabismus, hyper extensible joints, double jointed thumbs, low muscle tone and loose joints, high arched palate, large testicles, mitral valve prolapse, cardiomegaly
HOW COMMON IS FRAGILE X?
1 in each 151 women and 1 in every 468 men are carriers of the fragile x gene.
For both genders, the average of death of people with fragile x syndrome is 12 years lower than the general population.
The common age for FXS diagnosis for adult males is 35 to 37 months and for girls is 42 months. Parents are generally the primary to note symptoms of FXS at 1 year of age for boys and 1.5 years of age for girls.
All couples planning for pregnancy have to be examined for fragile x prior to that. It could be diagnosed by means of testing a individual’s DNA from a blood check.
TREATMENT and support
There is no cure for fragile x syndrome. But, treatment offerings can assist people learn vital abilities. Offerigss can encompass remedy to speak, walk and engage with others.