Fragile X Syndrome is a genetic condition that causes a several developmental problems in children including learning disabilities and cognitive impairment. It is a genetic abnormality seen on the X chromosome that leads to behavioral problems.
Fragile X syndrome occurs in nearly 1 in 4000 males and 1 in 8000 females and boys are more affected with this disorder than girls. Females having Fragile X Syndrome are less impaired than males. It is known by various names like marker X syndrome, Martin-Bell syndrome, FXS, FRAXA syndrome, Escalante syndrome, etc.
Fragile X syndrome is a condition that occurs in the developing baby when the body cannot make enough of a protein it needs for the baby’s brain to grow and develop.
Causes
Symptoms
Symptoms are in a mild to moderate degree in children with Fragile X syndrome. In one-third of children, the features of autism are present, seizures and hyperactivity can be seen in such children.
At first, the noticeable sign in children is a large head size. As the child grows, many features get unfolded.
Physical features include a long and narrow face, large ears, flexible fingers and large testes. Symptoms can be sub-grouped into:
Diagnosis
Boys with fragile X syndrome usually are diagnosed at around age of 3 years. Since girls have less serious symptoms, they’re usually diagnosed a little later, around age 3½ years. Most parents, care-givers notice delays in speech and language skills, difficulties in social and emotional in their children in certain situations.
Treatment
Diagnosis fragile X syndrome or carrier status, both early is important for early intervention and initiating treatment in children or fetuses with the syndrome.
Symptomatic relief is given to such children with Fragile X syndrome. Anti-convulsant medicines are given to control mood swings, behavioral symptoms.
If ADHD is present in these kids, is treated with stimulants. Speech therapy, Behaviour therapy can be given to treat troubling behavioral symptoms.