TheCakeIsALie
kiwifarms.net
- Joined
- Jun 15, 2016
Fragile X is my theory and I’m dying on this hill.Well then let’s hear it…
It can range from mild to severe. It causes exotropia, and cobes has been wearing glasses forever, since at least toddler hood.
Fragile X Syndrome | FXS
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics.Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition.
Prevalence
FXS has been detected in all populations and ethnic groups. As a result, efforts have been made to determine the overall prevalence of FXS and the difference in prevalence between males and females.There have been a number of studies undertaken both in the “special needs” population and the general population aimed at determining the prevalence of FXS in males and females. The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.
The reason there are fewer females with FXS than males is that the gene for FXS is located on the X chromosome.
- Males (XY) — having only one X chromosome — will develop FXS because they have a mutation of their single (only) X chromosome.
- Females (XX) — having two X chromosomes — can have the unaffected X reduce the effects of the affected X, which typically leads to no or milder symptoms of FXS. (This is an important distinction, as many females with the full mutation do not consider themselves, nor are they considered by others, to “have” FXS.
Signs & Symptoms
In Males
Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders, and increased risk for aggression.Intellectual disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities. The majority of males with Fragile X syndrome demonstrate significant intellectual disability.
Physical features may include large ears, long face, soft skin, and large testicles (called “macroorchidism”) in post-pubertal males. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers, and hyper-flexible joints. No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty.