Fragile X Syndrome is part of a group of fragile x-associated disorders. They are all caused by the FMR1 gene, the fragile x mental retardation 1 gene. The disorders also include not only Fragile X Syndrome, but Fragile X-associated primary ovarian insufficiency, known as FXPOI, and Fragile X-associated tremor/ataxia syndrome, also known as FXTAS. More is known about Fragile X due to FXPOI and FXTAS being discovered relatively recently.
Fragile X Syndrome Symptoms
Not all of children will fragile x syndrome will have the facial features associated with the condition. These include a long face and large head with prominent forehead, chin, and ears. Other signs of the condition include learning disabilities, social problems, behavior problems, seizures, and developmental delays.
Affecting the Sexes Differently
Females with the disorder can have normal to mild degrees of intellectual disability while males typically have mild to severe intellectual disabilities. With it being a genetic mutation, men generally will have more prominent symptoms than females. Approximately 1 in 6,000-8,000 females have the condition as opposed to 1 in 4,000 males.
Diagnosing Fragile X
Blood samples are taken to test the DNA for this condition. A primary care doctor or a genetic counselor can order the test. While it is a life long condition, knowing the disorder can help with improving the quality of life for the person involved. They can also be monitored for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome.
Research Projects
There are several research projects that the CDC and its partners are working on to learn more about this condition and to help inform the general population. Some of these projects include the Fragile X Clinical and Research Consortium and the National Fragile X Family Survey. More information on these projects can be found at the Centers for Disease Control website.
Genetic disorders are often misunderstood and hard to cope with. Parents may feel that they are the cause of the child’s condition and feel heavy guilt that will take them through the rest of their lives. Information can help guide these parents and children through a better understanding and a better prognosis for life.
Source: CDC, Fragile X
http://www.cdc.gov/Features/FragileX/