A to Z of syndromes

A-Z of syndromes: Usher syndrome

Understanding Usher syndrome which is found in approximately 10,000 people in the UK

Understanding Usher syndrome which is found in approximately 10,000 people in the UK


Picture: Science Photo Library

Usher syndrome was first described by Albrecht von Graefe from Germany in 1858, but Charles Usher provided more detail about the condition in 1914. It is also referred to as deafness-retinitis pigmentosa syndrome, dystrophia retinae pigmentosa-dysostosis syndrome and Graefe-Usher syndrome. For a child to be affected, both the recessive genes, one from each parent, need to be present and this can occur in a ratio of 1:4 pregnancies. Neither of the parents would usually display any characteristics, signs or symptoms. About 10,000 people in the UK have Usher syndrome.

Usher syndrome has been staged from 1-3 according to its severity and the age at which the signs and symptoms appear.

Usher syndrome type 1, the most common, is characterised by severe hearing loss or deafness from birth or developing in the first year of life. There is progressive vision loss, which starts during infancy, the child’s balance can also be affected because of problems in the vestibular canals. Affected children might have a gross motor delay, where they sit and walk later than their peers.

Usher syndrome type 2 is characterised by some hearing loss from birth, which usually affects higher pitches and soft speech sounds, with the letters ‘d’ and ‘t’ being identified as the most difficult for the child to identify. Visual deterioration is delayed until adolescence or young adulthood. Balance is unaffected.

Usher syndrome type 3 is characterised by progressive hearing loss and visual loss beginning after the second decade.

Treatment and management

There is no cure for Usher syndrome, therefore early diagnosis is important so that education, strategies, adaptions and coping mechanisms can be used to enhance the life chances of the individual and maximise their potential.

Cochlear implantation has made a significant difference to children affected by Usher and enabled a more inclusive educational environment. The technique has led to less use of British Sign Language.

Case study

Milania (not her real name) had reached her 12th birthday when a routine eye test resulted in a referral to a large children’s hospital. Milania’s Polish parents were not able to attend appointments together because of work commitments. Milania’s mother, who had limited English, accompanied Milania to the initial investigations. An interpreter was rarely available and Milania had to translate for her mum and absorb information for herself. Milania was eventually diagnosed with Usher syndrome type three. They remain critical of the way the situation and the diagnosis were managed.

The family is naturally positive and optimistic about the future, and speak about the need to get on with their lives and to live with a diagnosis of Usher. They made some preparatory changes, such as having an en suite wet room installed for Milania and getting the family home assessed by a local sensory team.

As they live in an urban area, public transport was not seen as a problem, Milania has a Freedom pass and was allocated communicator guide hours, however she also underwent cane training because she liked her independence. The family are not keen on dogs but are prepared to keep an open mind.

Milania decided to stay in her mainstream schools. She took her A levels with some support, gaining good grades.

She decided to study to become an audiologist. She now feels that she has an advantage over most of her fellow students because she has a much greater understanding than other professionals she has met.

 

Further information


Doreen Crawford is a nurse adviser with consultancy Crawford McKenzie and consultant editor of Nursing Children and Young People

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