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Fragile X Syndrome

Fragile X syndrome caused by an abnormal single gene, is most common inherited forms of mental retardation. It is a genetic disorder and affects about 1 in 4000 males and 1 in 8000 females of all racial or ethnic groups. Mutation of a gene FMR-1 in X chromosome causes this syndrome and if observed under a microscope, in certain cases at the end of a long arm of X chromosome it appears fragile, hence it gets the name Fragile X Chromosome.

Each individual has 23 pairs of chromosomes containing one pair of sex chromosome (X and Y). In females both the chromosomes are X and male have one X and one Y chromosome. If a female gets one X chromosome containing FMR-1 gene (abnormal gene) another X being normal, the chances of female getting affected by this abnormal gene is half as that of a male, who has no spare X chromosomes.

Inheritance of Fragile X Syndrome:

Females having abnormal gene can pass this syndrome to the next generation. These females typically have a 30 to 40% chance to give birth to a retarded males and 15 to 20% chance to give birth to a retarded females. A male can also be unaffected carrier and can pass permutations to his daughter only. These daughters will show no signs of fragile X syndrome, but may pass these permutations to their children.

X Syndrome Symptoms of Fragile:
 
Various learning and behavioral disabilities are observed among children and adults with fragile X syndrome. The symptoms in child include developmental delay, short attention, frequent temper tantrums, difficulty in disciplining the child, behavior such as talking to oneself, unusual hand movements, poor eye contact, self-abusive behavior, hand flapping and fighting with other.

Physical features of fragile X syndrome may be clearly seen in some of the older children, as these may have long philtrum, large ears, long face, high arched palate, flat feet, prominent forehead, flexible joints, males may develop larger testicles. Girls may have very low physical features.

Diagnosis of Fragile X Syndrome:

Children having developmental and behavioral disabilities and a maternal family history of mental retardation with physical features such as long and wide ears, long face, high arched palate or prominent forehead, should be tested for a possibility of fragile X syndrome. The blood sample is tested for mutation or permutation in FMR-1 gene of X chromosome.

Prebirth diagnosis:

Aminocentesis and chorionic villus , parental tests are carried out to diagnose the inheritance of mutation to the unborn child by carrier mother, but the test have limitations and can not diagnose always the mental health of the child.           Almost all the male child inheriting full mutation may have mental retard ness. However a girl child inherits full mutation, have only fifty percent chance to be mentally retarded.

Treatment:

At present there is no specific treatment available for fragile X syndrome, however most children with fragile X syndrome will have a normal life span. Since the beginning some individual children can be benefited with therapies including speech, language, physical, occupational and psychological. Some medications can also improve the behavioral symptoms in some of children.

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Learning Disability

Types of Learning Disabilities

Cri Du Chat Syndrome

Down's Syndrome

Edward's Syndrome

Fragile X Syndrome

Homocystinuria

Hurler Syndrome

Mental Retardation

Mental Retardation Causes

Mild Mental Retardation

Patau's Syndrome

Phenylketonuria

Tay Sachs Disease