Fragile X Syndrome
Fragile X syndrome occurs when a person's cells do not produce the FMRP protein. The genetic code for how to synthesize this protein is carried on the X chromosome, so men (who carry an X and a Y chromosome) can produce the protein only if there is a stable gene on their X chromosome telling their body how to do so. Women (who have XX chromosomes) may carry stable FMR1 on both chromosomes, resulting in normal protein production, while others carry one mutated X and one normal X (resulting in mild impairments, some protein production) and others still carry double mutated genes (which means there is no protein production). As a result, people with fragile x suffer from symptoms much like children or adults with Down syndrome.
Physical characteristics of Fragile X resemble signs of Down syndrome, with features like pronounced chins and foreheads, large heads and long ears that protrude from the head. Long faces, connective tissue problems, flat feet, ear infections, being double-jointed, having enlarged testicles and problematic menstrual cycles are other common physical symptoms. These features are more common for males over 10 and women who have gone through puberty. The classic long face, prominent ears and enlarged testes is said to only be present in 60% of cases. At least 10% of cases show only intellectual impairment.
Adults should be tested for Fragile X syndrome if there is a known history in the family, if anyone in the family shows signs of Down syndrome, Autism, delayed learning, inherited disability or mental retardation, if anyone has been previously assessed for Fragile X, or if a woman has had premature ovarian failure. Many asymptomatic carriers are unaware of their genetic makeup because the signs are not always exhibited. It is estimated that 1/300 women carry the mutation in some fashion. To check for the mutation, a chromosomal DNA test is done via a blood sample. The tests usually cost $300-$600 and return in 2-4 weeks with a 99% accuracy.
Just as there are Autism and Down syndrome support networks, Fragile X syndrome has an organization of its own. The National Fragile X Foundation (NFXF) was created in 1984 to help individuals, their families and caregiver professionals. The organization works to increase awareness, improve education and advance research to find a cure. Parents can find over 300 pages of information at www.fragilex.org that can help them raise a developmentally disabled child.
Related topics about fragile x syndrome
people with down syndrome
All people with Down syndrome can't be expected to be math wizards or complete high school social studies exams. However, early integration for Down syndrome children is extremely important in helping them achieve successes and set realistic goals. Being exposed to many different subjects and hobbies is also important, as Down syndrome research suggests, since many are prodigies in art or music.
child with down syndrome
As a parent of a child with Down syndrome, you play a critical role in helping your child to develop to his or her full potential. Some parents feel overwhelmed and incapable of offering the necessary love and support, so they opt for foster homes or adoption. However, most parents meet the challenge head-on, with the support of National Down Syndrome Society programs aimed at helping prepare new parents for everything they are about to face.
what causes down syndrome
Most mothers don't worry about what causes Down syndrome unless they are over 35, which is said to be the risk factor age. Down syndrome, a major cause of mental retardation, occurs in 1 out of every 800 births (5,000/year) and is the most common genetic condition. After many years of scientific research, what causes this syndrome can only be traced to one clear link: maternal and paternal age.