What is Fragile X Syndrome?
Fragile X syndrome is a genetical disease , which is inherited and causes developmental and rational handicap in the patient . The commonest hereditary cause of mental disability in boys is Fragile X syndrome . Patients having fragile ex syndrome normally have a range of learning and developmental problems . This syndrome is a biography - foresighted aesculapian condition . Very few people suffering from thin disco biscuit syndrome are able to take an main life . According to studies , fragile X syndrome is realize in about 1 in every 8,000 females and 1 in every 4,000 males . Males be given to have more severe symptoms when compared to female .
There is no cure for fragile decade syndrome and discussion is done to help the patient manage the symptoms .
Causes of Fragile X Syndrome
The drive of Fragile X syndrome is a defect in the cistron know as FMR1 gene , which is present in the X chromosome . There are two types of gender chromosomes ; one is Y chromosome and the other is the X chromosome . Men have one Y chromosome and one X chromosome ; whereas charwoman have two decade chromosomes .
The blemish in the FMR1 gene block the cistron from properly making a protein sleep together as fragile X mental backwardness 1 protein . This protein plays an important part in the nervous system function . However , the proper mapping of this of import protein is not totally understood . A shortage or want of this protein produces the symptoms of frail X syndrome .
Symptoms of Fragile X Syndrome
Fragile X syndrome causes developmental delays , learning disabilities , and social or behavioral job in affected role . The disabilities differ in severity from patient role to affected role . Male patients commonly have some degree of rational impairment . Female patients can also have some determine disability or intellectual handicap or both . However , many women having fragile ex syndrome often have normal intelligence .
affected role have got tenuous ex syndrome expose the following signs and symptom during childhood and adulthood :
There are some patients with fragile X syndrome with physical abnormalities or some facial abnormalities such as :
Investigations for Fragile X Syndrome
The testing for fragile x syndrome can be done in children who display developmental delays or have other signs of this syndrome include an increased perimeter of the head or some other mild difference of opinion in feature film of the face . FMR1 DNA test is a roue tryout done to diagnose Fragile X syndrome . This test look for any changes in the FMR1 gene related to fragile X syndrome .
Treatment for Fragile X Syndrome
Fragile X syndrome has no curative . The aim of discourse is helping the patient with frail ten syndrome conduct a better life by teach primary acquirement , such as proper societal interaction and terminology use of goods and services . This comprises of get under one’s skin extra aid from therapists , instructor , folk members , coaches and doctors . There can be many other services and resource present in an soul ’s community which will instruct the children with fragile X syndrome significant skill so that there is proper evolution .
Medications for child with fragile tenner syndrome are usually prescribed for behavior problems , such as anxiety , depression , attention deficit disorder and other symptoms of frail X syndrome .
Prognosis & Life Expectancy for Fragile X Syndrome
Fragile X syndrome is a circumstance which persists for the entire life of the affected role . This condition will impress all the expression of a patient ’s life , including work , school and social life .
According to research , around 44 % of cleaning woman and 10 % of humans having fragile X syndrome are able to attain a eminent level of independency as adults . The liveliness anticipation of a patient with delicate X syndrome is thought to be the same as any other normal mortal . The prospect also depends on the level of the symptom of this condition .
