Usher Syndrome

For more than ten years, I was the coordinator of a multidisciplinary team at Viataal (Sint-Michielsgestel), which assessed people who had hearing impairments and concurrent visual problems. The team consisted of an ENT specialist with great interest in syndromes, an ophthalmologist, an audiologist, a psychologist, and mobility instructors, who also functioned as assessment assistants. The Center, called the "Vision Assessment Center," used assessment techniques that provided important information about a person’s hearing and vision, behaviour and learning. It was the coordinator’s job to translate all the information into practical suggestions for (re)habilitation, learning, and improvement of behaviour.

People with Usher Syndrome were important clients. Usher Syndrome causes hearing impairment and deterioration of vision (due to an eye disease called Retinitis Pigmentosa). In meeting children and adults with Usher Syndrome, I was always struck by how positive these people were. It would seem that life with a (severe) hearing loss and gradually disappearing vision must be very stressful and lead to depression. Of course, this was present in some of the adult population, but to a much lesser degree than might be expected. The clients had a strong desire to receive good information and were open to suggestions about how to adapt to a life without sight. Our question was whether this observation could be supported by research. In cooperation with Lianne Vermeulen (psychologist), we carried out a pilot study in 1994 to investigate emotional stability and Usher Syndrome.

The participant sample in the study was a group of 16 adolescents (mean age 13.6 years), who had been diagnosed with Usher Syndrome Type I (profound deafness from birth, and deteriorating vision starting at school age). People who knew the youngsters very well were asked to complete the California Q Test (Block, 1978). Test questions address several dimensions of personality. The pilot study concluded that the clients were judged to have:

  • very strong ego-resilience
  • a high level of pro-social competence, which is advantageous for social contacts
  • high self-esteem
  • they lacked assertiveness, however, perhaps due to overprotection

These characteristics helped the youngsters be good candidates for successful rehabilitation.

We asked colleagues in other countries to validate our preliminary findings by carrying out similar research. A European Research Study was conducted in 2005, and 6 European Union countries participated. Similar findings were reported (Damen, 2005). The sample consisted of 26 people with Usher Syndrome Type I, 27 with Usher Syndrome Type II (hard of hearing from birth, deterioration of vision starting in adolescence), 4 with Usher Syndrome Type III (postlingual progressive hearing loss, deterioration of vision during the second decade of life), and 10 people whose type of Usher Syndrome was unknown.

The main findings were that these individuals worked very hard to remain independent and to keep a positive outlook on their lives. The interviews revealed that the individuals with Usher Syndrome wanted to be well informed about their adaptive hearing and vision equipment, and about new methods that might help them stay in contact with their environments.

 

Further research is needed to determine whether these positive emotional characteristics can be considered part of the Usher behaviour phenotype.

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