Who gets it?

Between three and six per cent of all children with hearing difficulties have Usher syndrome. It affects about one in every 25,000 babies born in developed countries.

What is it?

Usher syndrome is a genetic condition, which is inherited in an autosomal recessive fashion. This means that a child will only develop the condition if they inherit two genes for Usher Syndrome, one from each parent. In most cases each parent only carries one Usher syndrome gene, so they don't have the condition themselves and are often unaware that they're a carrier.

A number of different genes have been found that may contribute to Usher syndrome. These genes normally help the retina in the eye, and the cochlea in the inner ear, to work properly. In those with the condition, one or more of these genes are faulty.

The visual problems are due to a condition called retinitis pigmentosa, in which the retina slowly degenerates and gradually loses its ability to send images to the brain, resulting in a progressive loss in vision.

Types of Usher syndrome

There are at least three different types of the syndrome, possibly more. Types 1 (USH1) and type 2 (USH2) are the most common and account for up to 95 per cent of children with the condition.

  • Children born with type 1 are profoundly deaf from birth. Hearing aids are usually of little help and sign language is used for communication. The children also have severe problems with balance, so they may be slow to sit unsupported and are often late in learning to walk. Visual problems begin to develop by the age of about ten and difficulty seeing in reduced light at night is often the first symptom. Deterioration in sight may be rapid and lead to complete blindness.
  • In type 2, the child usually has moderate to severe hearing problems from birth. Balance, however, is normal. Hearing aids may allow the child to cope within mainstream school and most can use speech and lip-reading for communication. Vision deteriorates more slowly than with type 1, and problems may not begin until early adult life.
  • Children with type 3 are even more mildly affected, at least at first. Hearing and sight are normal at birth but both deteriorate at a rate which varies from person to person. Problems are usually evident by late teens, and by the time they reach their 40s most people with type 3 are blind and have complete hearing loss.

Treatment

Usher syndrome cannot be cured. But the earlier it's diagnosed the more can be done to help the individual prepare for the problems ahead and to lead as normal a life as possible. Hearing aids and other communication technology, cochlear implants and specialised support at school may all help the child adjust to their disability.

Counselling may be helpful, particularly regarding future careers - and genetic counselling is important both for the individual's future plans for a family and for the rest of his or her own family.

Gene therapy looks increasingly promising as a treatment for retinitis pigmentosa in Usher syndrome, although it is still many years away.

 
 
 
 
By Dr_Trisha-Macnair 01/29/2016 12:49:00

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