Fragile X Syndrome Case Studies

Fragile X syndrome, also called Martin-Bell syndrome, is a syndrome of X-linked mental retardation. In 1943, Martine and Bell described a pedigree of X-linked mental disability. Chris and Weesam were first to sight an unusual “maker X chromosome” with mental disability in 1969. It is also the most common known cause of autism. Autism is a brain development disorder that impairs social interaction and communication. It can also cause restricted and repetitive behavior. It all starts before a child is three years old. It affects about 1 in 4000 males and 1 in 8000 females. It can cause a range of mental impairment, varying from mild to severe, and can also cause many other typical features and symptoms. The cause of
Speech and language therapy, occupational therapy, and physical therapy may be needed for a child to reach full potential. Avoiding over-stimulation and using calming techniques can help reduce behavior problems. Medications can be used to help treat the aggression, seizures, hyperactivity and short attention span that often come along with fragile X syndrome. In males, they have only one copy of the X chromosome. Males with significant trinucleotide expansion at the FMR1 locus are symptomatic, which means they are intellectually disabled. For females, the have two X chromosomes, so they have double chances of having a working FMR1 allele. Males cannot transmit fragile X syndrome to their sons, but they can transmit it to all of their daughters. Males who receive the fragile X are at high risk of intellectual disability. Females who are affected may appear normal or they may be intellectually disability and usually to a lesser degree than boys with the syndrome. The transmission of fragile X often increases with each passing generation. Genetic testing is available to diagnose fragile X syndrome and to