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Usher syndrome

Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is almost always inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. Whilst this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the link between congenital deafness and retinitis pigmentosa was stressed. more...

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Usher syndrome is divided into three types, I, II and III. Children with type I syndrome are born profoundly deaf, and eyesight usually begins degrading after the first decade of life, beginning with night-blindness. If identified at a young age, children usually receive a cochlear implant, and generally learn spoken language. Sign language is also sometimes used, though when vision loss becomes severe one must revert to tactile signing. Problems with balance are usually present, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing, and changes in sight usually begin later, first becoming noticeable after the second decade of life. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life.

Usher syndrome I

Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population.

Mutations in the CDH23, MYO7A, PCDH15, Usher 1C (also known as Harmonin), and USH1G (now identified as SANS) genes cause Usher syndrome type I. Usher syndrome type I can be caused by mutations in one of several different genes. These genes function in the development and maintenance of inner ear structures such as hair cells (stereocilia), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

Usher syndrome II

Usher syndrome type II occurs at least as frequently as type I, because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I.

Mutations in the MASS1 (also called VLGR1) and USH2A genes cause Usher syndrome type II. Usher syndrome type II may be caused by mutations in any of three different genes, two of which have been identified to date. These genes are called USH2A and MASS1. Usherin, the protein made by the USH2A gene, is located in supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The precise function of the protein made by the MASS1 gene is not yet known.

Usher syndrome III

The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups.

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Usher's Syndrome: What It Is, How to Cope, and How to Help. - book reviews
From Journal of Rehabilitation, 1/1/90 by Charlene M. Kampfe

This book is an introduction to Usher's Syndrome for patients, parents and professionals, and is not intended to be a scholarly effort. With an emphasis on providing basic information about Usher's Syndrome, it is written in a comfortable, easy-to-read style that can be read in one to four sittings.

It is obvious that the book has been prepared by a multidisciplinary team of professionals with long-standing experience and expertise in working with deaf-blindness. The book meets several needs identified by the authors through their professional and social interactions with persons who have Usher's Syndrome and their families. These include the need to have basic information about the condition, the need to know the types of strategies persons with Usher's Syndrome use to cope with the condition, and the need to know about the types of services that are available.

Chapter One consists of information obtained from six interviews with a variety of people who have Usher's Syndrome. The variety in age, gender and professional background allows each reader to find one or two persons with whom he/she might identify. Photographs also provide a personal connection with the interviewees. Information is presented according to categories used in the interview: feelings of isolation and rejection, understanding the problem, coping strategies, social and recreational activities, satisfaction and goals. The combination of responses shows some similar experiences and other very unique ones.

Chapter Two presents specific, rudimentary medical information about the syndrome in such a way that it will be easy for affected individuals and their families to assimilate. One of the most useful aspects of this chapter is a visual demonstration of the loss of peripheral vision as it looks to persons with Usher's. It also provides illustrations of the degeneration that occurs by blocking out sections of a series of photographs to show the amount and type of loss involved over time.

A slight change of pace occurs in Chapter Three. Written for professionals who are charged with communicating the diagnosis, this chapter offers suggestions to practitioners for helping families and patients understand the functional implications of the syndrome. For example, difficulties associated with driving a car and engaging in night-time activities are presented. Another valuable aspect of this chapter is a 13-page list of resources throughout the United States. Throughout the chapter, the emphasis is on the need for sensitivity to the individual's and family's feelings at the time of diagnosis and as the condition progresses.

Chapter Four gives an overview of the psychological adjustment to the condition. It discusses the factors that affect adjustment, the impact and reaction of the deaf community to persons with Usher's Syndrome, the importance of early diagnosis, special concerns of adolescents, feelings of isolation, and issues of independence and self-reliance. This chapter should be helpful for persons with the disability, their families and professionals.

Chapter Five introduces educational concerns associated with Usher's Syndrome. It discusses myths about deafness, communication modes, educational placement options, educational implications, educational needs, vocational choices and post-secondary education. This information will be useful to those who are making decisions about the future of persons with the condition and particularly to persons who have Usher's Syndrome as they make decisions for themselves.

Chapter Six offers an excellent introduction to vocational rehabilitation and the types of services it offers. It also offers a minimal review of the types of vocational issues faced by persons who are deaf-blind and a list of potential job opportunities for these individuals.

Chapter Seven stresses the use of recreation and other resources to help establish a sense of community and to avoid the sense of isolation often felt by persons with Usher's Syndrome. It offers practical suggestions/options to persons with the condition.

I found this book to be immediately useful and have already recommended it to professional colleagues and to a family seeking information about Usher's Syndrome. If the reader is seeking in-depth information about the condition or a scholarly approach (i.e., related research or references), this book will not meet those needs. Rather, it is designed to provide an overview of information that is presented in a simple, easy-to-read manner that families and patients can understand. Throughout the book, the writers make themselves accessible to persons with Usher's Syndrome. In the introduction, for example, they invite the reader to contact the Center on Deafness (facility at which many of the writers are employed) for answers to questions or referrals to local services.

Charlene M. Kampfe, Ph.D., Division of

Rehabilitation Counseling, University of

North Carolina at Chapel Hill.

COPYRIGHT 1990 National Rehabilitation Association
COPYRIGHT 2004 Gale Group

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