Fragile X

The gene for Fragile X is carried on the X chromosome because both males (XY) and females (XX) have at least one X chromosome, who can both can pass on the mutated gene to their children. Fragile X is when a father with the altered gene for Fragile X on his X chromosome will only pass that gene on to his daughters. If he has a son, he passes a Y chromosome on to his sons, which doesn’t transmit the condition. Therefore, if the father has the altered gene on his X chromosome, but the mother’s X chromosomes are normal, all of the couple’s daughters would have the altered gene for Fragile X, while none of their sons would have the mutated gene but can still have fragile X.

Signs and Symptoms

• Some degree of intellectual disability or learning problems
• Behavioral problems, such as difficulty paying attention and frequent tantrums
• Autistic-like behaviors, such as hand flapping and hand biting
• Delays in learning how to sit, walk and talk
• Speech problems
• Anxiety and mood problems
• Sensitivity to light, sounds, touch and textures

Detection and Diagnosis

Fragile X can be diagnosed using the person’s blood for the analysis of the FMR1 gene. This DNA test, available since the gene was first identified in 1991 can detect Fragile X in normal carriers and in those affected, but it cannot tell from that analysis if the child is or will be intellectually impaired or the severity of many of the symptoms.

Treatment

Standard treatment includes special education, speech, occupational, and sensory integration training; and behavior modification programs. Surgical correction of heart defects is sometimes necessary.

Life Expectancy

People with fragile X pretty much have a normal life expectancy. With having this though, they do sometime devolpe seizures which can effect their life expectancy.