FXS, also known as Fragile X Syndrome is a genetic disorder that results in mental retardation and can be detected if a child shows developmental delays, learning disabilities and social and behavioural problems in comparison to other children of the same age.

Here are some facts about FXS:

• FXS Syndrome affects about 1 in 4000 males and 1 in 8000 females and is usually caused from an inherited gene. It occurs in all racial and ethnic groups.

• Most cases of Fragile X Syndrome occur when the FMR1 gene gets mutated in a DNA segment, the CGG triplet repeat being expanded.

• In a normal person, the CGG triplet repeat occurs from around 5 to 40 times in a segment but in people suffering from Fragile X Syndrome, the CGG segment is found to repeat more than 200 times. It is this abnormal expansion that inactivated the FMR1 gene responsible for producing a protein for mental development.

• FXS syndrome is said to affect boys more frequently and severely than girls because boys have one X chromosome and therefore damage caused to one results in severer consequences.

• Boys affected by FXS syndrome can be characterised by a large head size, prominent forehead and chin with protruding years and loose joints and large testes (after puberty).

• Both boys and girls affected by Fragile X Syndrome will be found with problems related to coordination and suffering from tremors.

• Family members who have few repeats of the CGG triplet in the FMR1 gene may not show full mental retardation but can have other health problems such as premature menopause, difficulty becoming pregnant in case of women and so on.

• It is very difficult to detect Fragile X Syndrome in babies because of the few outward signs that it has. However, subtle differences in facial characteristics as they develop can be detected by a very experienced geneticist. Mental retardation is the hallmark sign but it can only be detected at a slightly later age.

• Diagnosis via DNA testing from a blood sample of the patient can be done for detecting FXS syndrome.

• The Fragile X Syndrome is hereditary and inherited in an X-linked dominant pattern. Fathers however cannot pass X-linked gene traits to their sons and therefore cannot be inherited from the father.

• Early Invention Services are offered to new born babies up to the age of 3 years that may help a child develop skills and also diagnose if the baby has Fragile X Syndrome.

Unfortunately there has been no cure discovered for treatment of children suffering from fragile X Syndrome apart from offering them special therapy and education, vocational training and treating the common vision and hearing problems like it is done in normal patients. While there has been no cure, it is also important to get FXS syndrome diagnosed as proper care and therapy can help in the development of the child to its full potential and also help the family learn more about the disorder and go about further family planning accordingly. Families with affected children can gather support from community resources and talk to parents with similar issues to help raise their child in a better way.