What is Fragile X Syndrome?

Fragile X syndrome is a genetic disease, which is inherited and causes developmental and intellectual disabilities in the patient. The commonest hereditary cause of mental disability in boys is Fragile X syndrome. Patients having fragile X syndrome commonly have a range of learning and developmental problems. This syndrome is a life-long medical condition. Very few people suffering from fragile X syndrome are able to lead an independent life. According to studies, fragile X syndrome is seen in about 1 in every 8,000 females and 1 in every 4,000 males. Males tend to have more severe symptoms when compared to females.

What is Fragile X Syndrome?

There is no cure for fragile X syndrome and treatment is done to help the patient manage the symptoms.

Causes of Fragile X Syndrome

The cause of Fragile X syndrome is a defect in the gene known as FMR1 gene, which is present in the X chromosome. There are two types of sex chromosomes; one is Y chromosome and the other is the X chromosome. Men have one Y chromosome and one X chromosome; whereas women have two X chromosomes.

The defect in the FMR1 gene hinders the gene from properly making a protein known as fragile X mental retardation 1 protein. This protein plays an important role in the nervous system function. However, the proper function of this important protein is not completely understood. A shortage or lack of this protein produces the symptoms of fragile X syndrome.

Symptoms of Fragile X Syndrome

Fragile X syndrome causes developmental delays, learning disabilities, and social or behavioral problems in patient. The disabilities differ in severity from patient to patient. Male patients commonly have some degree of intellectual disability. Female patients can also have some learning disability or intellectual disability or both. However, many women having fragile X syndrome often have normal intelligence.

Patients having fragile X syndrome display the following signs and symptoms during childhood and adulthood:

  • There are developmental delays, e.g. taking a longer than the usual time to learn to sit, talk, walk, when compared to other children of same age.
  • The child with fragile X syndrome can have stuttering.
  • There are learning and intellectual disabilities, e.g. problem in learning new information or skills.
  • Patient experiences anxiety.
  • There is autism in children with with fragile X syndrome.
  • Child is impulsive.
  • Child can be hyperactive.
  • Child with fragile X syndrome has attention problems.
  • Child has social problems like lack of eye contact, does not like being touched, and has trouble in comprehending body language.
  • Patient has seizures.
  • Patient with fragile X syndrome has trouble sleeping.
  • Patient falls into depression.

There are some patients with fragile X syndrome with physical abnormalities or some facial abnormalities such as:

  • Child with fragile X syndrome may have large ears or forehead with a protruding jaw.
  • Protruding ears, chin and forehead can also be a feature of child with fragile X syndrome.
  • Having a very long elongated face.
  • The joints will be flexible or loose.
  • Patient has flat feet.

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 including an increased circumference of the head or some other mild differences in features of the face. FMR1 DNA test is a blood test done to diagnose Fragile X syndrome. This test looks for any changes in the FMR1 gene related to fragile X syndrome.

Treatment for Fragile X Syndrome

Fragile X syndrome has no cure. The aim of treatment is helping the patient with fragile X syndrome lead a better life by learning primary skills, such as proper social interaction and language use. This comprises of getting extra help from therapists, teachers, family members, coaches and doctors. There can be many other services and resources present in an individual's community which will teach the children with fragile X syndrome important skills so that there is proper development.

Medications for child with fragile X syndrome are usually prescribed for behavior problems, such as anxiety, depression, attention deficit disorder and other symptoms of fragile X syndrome.

Prognosis & Life Expectancy for Fragile X Syndrome

Fragile X syndrome is a condition which persists for the entire life of the patient. This condition will affect all the aspects of a patient's life, including work, school and social life.

According to research, around 44% of women and 10% of men having fragile X syndrome are able to attain a high level of independence as adults. The life expectancy of a patient with fragile X syndrome is thought to be the same as any other normal person. The prognosis also depends on the degree of the symptoms of this condition.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: July 7, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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