FRAGILE X

What is it?

Fragile X syndrome is an inherited condition. It is thought to be the most common inherited form of mental disability. Our characteristics are passed on to our children through our chromosomes - a sort of genetic blueprint. In Fragile X syndrome, one of these chromosomes - the X chromosome - is slightly abnormal.

Who gets it?

About 1 in 40 males and 1 in 80 females suffer from Fragile X. All males have an X and a Y chromosome and all girls have two X chromosomes. In most other inherited conditions carried on the X chromosomes, only boys actually get the condition, although girls can be 'carriers' who pass it on to their children. In Fragile X, however, both boys and girls can be sufferers, although boys are more often affected. It is found in people of every ethnic background.

What are the symptoms?

You may notice that your child looks different from others, with a big head, long face and large forehead, ears and chin. Affected children may have very bendy joints and seem 'floppy'. They may also get epileptic fits. They may be slow to develop - walking running and jumping late. They may find it difficult to co-ordinate things or carry out delicate tasks. They may have problems with talking or mixing with others. Temper tantrums are common, as are repetitive speech and actions like hand-flapping or hand-biting. At school they may have difficulty keeping up and be easily distracted and disruptive.

When should I go to my doctor?

If you are worried about your child's development or appearance when he or she is very young, you should be able to discuss this with the health visitor or your doctor in your baby clinic. If they think there may be a problem, they will suggest you talk to your GP. If the symptoms are mild and you do not realise anything is wrong until your child is at school, you should discuss your concerns first with his teacher or the school doctor.

What test will my Doctor want to do?

Your GP will examine your child and test his or her development. It is very important to tell the GP if anyone in your family has learning difficulties - especially if they have been diagnosed as having an inherited condition. If there may be a problem, the GP will probably refer you to the hospital as an outpatient to see either a paediatrician or an expert in genetics and inherited conditions. There is a blood test which can be done to see if your child has the condition.

Is there any treatment?

There is no cure for Fragile X syndrome. However, there is a great deal that can be done to help affected children with their development, learning, physical and social skills. Speech therapy can help with their language problems and physiotherapy or occupational therapy can help them deal with day-to-day problems. Affected children may benefit from medicines to help their concentration and hyperactivity. They may also be referred, usually with rest of the family, to a family psychotherapist who can help the whole family learn how to get the best from them. Affected children will almost certainly need special help with learning, which should begin as early as possible. They may well be able to attend a normal school - perhaps with extra tutoring from a special needs teacher. They are likely to be given a statement of special educational need which will help the family access special help with education.

Will I need tests too?

You will need to be tested for the condition, as will other members of your family. You should get advice about the risks of having another child with the same condition.

Can I get any other help?

Many parents with a child who has Fragile X syndrome find it helpful to talk to other families in the same position. You can get advice, information and details about contacting families and other sufferers from:
The Fragile X Society
53 Winchelsea Lane
Hastings
East Sussex
TN35 4LG

01424 813147

A DOCTOR information leaflet for patients