Usher syndrome (USH) is a genetically recessive based condition causing both senserioneural hearing loss and progressive vision loss caused by retinitis pigmentosa (RP), an eye condition affecting the retina. RP leads to symptoms such as night blindness, reduced visual acuity, and concentric visual field reduction (tunnel vision). USH can lead to blindness, but need not. Depending on the degree of hearing impairment, the syndrome is ascribed three clinical types: USH1 is characterized by congenital deafness and balance problems; individuals with USH2, the most frequent type worldwide, experience moderate to severe hearing loss from birth with normal balance, while individuals with USH3 have a progressive hearing loss with normal to near-normal balance (Kimberling & Möller, 1995). Within these three clinical types there are many genetic types, which lead to a huge variability in USH.
Currently, the main focus of USH research is on the medical and genetics aspects of the syndrome. Studies that focus on life management and psychological well-being, while being more significant to individuals with USH, are comparably very rare. This article provides an overview of the recent international research studies focussed on the psychosocial situation of people with USH.
In this article I will address the issues related to the psychosocial situation of people with USH through the aspects related to diagnosis, stress in different areas of life, mental health issues, social stress, self image and self esteem, sense of humor and coping strategies and programs.
“I went to the doctor and he told me that I would go deaf and blind. He does not know when, but it might be in the near future. Then the doctor abruptly left the room. No! Not my hearing, not my vision! It is not fair! How could God do this to me? Why wasn’t I told until I was grown up? Somebody help me!!!” (Möller, 2007, p. 59).
This quotation shows that the diagnosis of USH can be associated with such reactions as shock, devastation, confusion, despair, denial, grief, guilt, helplessness, depression and anxiety. These are results of a survey from Ilene Miner who asked 39 people with USH and their family members about their diagnosis (Miner, 2014). The respondents told Miner that the information given by the medical doctors was often too medical and therefore incomprehensible. They often lacked specific information and individual prognosis; for instance, medical doctors told one person that she might go blind, based on general assumptions. Respondents also indicated that they were given too little time to discuss issues regarding USH.
Another problem that was reported was how late the diagnosis were given. In an earlier study, Miner reported the mean age of USH diagnosis was 18 years (Miner, 1997). However, Högner (2014) reported that the mean age of identification in a German sample was 32 years.
2. Stress in different areas of life
Figueiredo, Chiari and Goulart (2013) conducted interviews about different types of stress reported by 11 people with USH (aged 20–57 years) in São Paulo, Brazil. Six of those individuals reported a negative affect on their daily activities, six experienced difficulty at work; two in leisure activities. Four of the individuals reported a change in their family situation due to USH.
Ellis and Hodges (2013) analysed stress in various aspects of life through interviews with 44 people aged 14 to 56 years with USH in the UK (17 USH1, 22 USH2 and 5 USH3). The respondents reported problems in the areas of communication, mobility, family/friends/support networks, education, work and leisure. In all of these areas USH has two sides: frustrations and challenges with accepting USH such as learning to ask for help and finding a job. However, it depends on the attitude of the person with USH to perceive whether an issue is challenging or frustrating. Since USH is highly associated with unpredictability of timing and the extent of changes, people with USH are often stressed by aspects related to not knowing whether they will go blind; or if they do, when will it happen; when will they need to give up driving, working, use a cane etc.
Högner (2014, 2015a, 2015b) developed a questionnaire in her doctoral thesis to assess stress frequency and intensity in 262 people, aged 17 to 79 years, with USH2 in Germany. When the mean values of the frequency and intensity of the various stress determinants were placed in a descending order, the distribution of the results for frequency and intensity were similar. The highest stress was in the area of orientation and mobility, followed in descending order: recreation, auditory communication, daily life skills, social interactions and employment. Thus, orientation and mobility is a serious problem area since their vision loss cannot be compensated with the auditory sense.
3. Mental health
Wahlqvist, Möller, C., Möller, K. and Danermark (2013) carried out a comparative study of the physical and psychological health of 96 people with USH2 in Sweden, (aged 18 to 84 years) with 5,738 non-USH individuals from the main Swedish population. The USH2 sample of individuals reported more fatigue, more problems with concentration and being able to complete tasks, more feelings of worthlessness, being constantly under strain, unhappy and depressed. They reported experiencing more anxiety and worry; more thoughts and actual attempts at suicide.
In a follow-up study, Wahlqvist (2014, unpublished) examined the physical and psychological health of persons with USH1 and USH3. Preliminary results presented in a lecture in Potsdam Germany (2014) indicated that among individuals with USH1, their psychological problems included headaches, fatigue, loss of confidence, strain, feelings of worthlessness, suicide behavior, lack of social trust, and social isolation. For those with USH3, common issues reported were fatigue, sleeping problems, stress and worry, suicide thoughts and attempts, social withdrawal and a general mistrust of others.
4. Social stress
The author (Högner, 2014, 2015a, 2015b) used the Trierer Inventory of Chronic Stress (TICS)1 to measure the frequency of various kinds of stress experienced by 262 people with USH2 (aged 17 to 79 years) compared to 604 non-USH individuals within the main German population. The stress experiences were divided into two broad areas: aspects of social stress and aspects of work stress. The social stress scales examined were: Social Overload, Lack of Social Recognition, Social Tensions, Social Isolation and Chronic Worry. The results from the USH2 sample regarding social stress indicated that the individuals experienced a higher level of stress in the scales: Social Tensions, Social Isolation and Chronic Worry. The highest stress reported by the USH sample was Chronic Worry, an indication that USH is associated with internal stressors. The individuals reported less stress in aspects of Social Overload due to their being involved with fewer social commitments due the restrictions of USH.
Stress scales studied associated with work included: Work Overload, Success Pressure, Discontentment with Work. The results regarding the work stress in this study will be shown in a future article.
5. Self image and self esteem
In the study from Ellis and Hodges (2013) the standardized Self Image Profile (SIP)2 was used for 30 USH-adults aged 19 to 56 years (9 USH1, 17 USH2, 4 USH3) and 11 USH-children aged 14 to 18 years (6 USH1, 4 USH2, 1 USH3). Both groups were compared with the main population (1,303 non-USH adults and 892 non-USH children). No differences were found between the two groups. The authors compared the scores, which are in normal ranges, but no statistical tests were used.
Regarding self image and self esteem, adults saw themselves (in descending order) mostly as honest, trustworthy, friendly, loyal, and caring, and at least thin/slim, optimistic, fit, patient, and confident. Children saw themselves as being mostly friendly, helpful, funny (and fun to be with), but also tending to worry a lot, an indication of psychological problems. Children were least likely to view themselves as bossy, sarcastic/bitchy, annoying, messing around and moody (Ellis & Hodges, 2013).
6. Sense of humor
The author (Högner, unpublished 2014) carried out a study about the use of humor to cope with stress using the Coping Humor Scale3 (CHS) and about the sense of humor using the Sense of Humor Scale4 (SHS). The study involved 86 persons aged 27 to 75 with USH (2 USH1, 83 USH2, 1 USH3). The USH sample was compared with the main population (CHS n = 110, SHS n = 151). The results with the CHS indicated that people with USH used less humor to cope with stress. According to the sense of humor scale, people with USH laughed less, were less playful (and in a positive mood) and used less humor under stress. The results can be explained in numerous ways: the inability of individuals with dual sensory impairment to perceive humor in the face of others and hear them laugh; combined with their individual stress, their social isolation, fear and worry and depression.
7. Coping strategies and coping programs
In the study from Ellis and Hodges (2013), people with USH were asked about their coping strategies. The respondents told them that they are “doing things while they still could” (p. 8, 218). This means that some individuals hold onto activities as long as possible (e.g., by continuing to drive their car), while others are trying to cope with the changes as soon as possible by finding alternatives (e.g., changing to cycling tandem), through adaptation and modification (e.g., lighting and change to work from full to part-time), learning new strategies (request for help), using aids (such as the long cane, cochlear implant, Smartphone) and making contact with other USH people (e. g., in self-help groups and virtual networks such as Facebook).
In a study by the author (Högner, 2012), 17 USH individuals (23 to 58 years) were asked in interviews about their individual coping strategies. They indicated such activities as sports, dancing, walking, social relationships with significant others, exchange with other USH people (in self-help groups and volunteer work), the conscious creation of recovery times and relaxation exercises (e.g., yoga) and the use of humor.
Côté, Dubé, St-Onge and Beauregard (2013) developed a group intervention program for 7 USH2 individuals (aged 42 to 63 years) focused on managing personal goals. The goal was to support the adaptation process in USH through setting, planning, and pursuing a goal and learning strategies to achieve these goals according to the following steps: 1) goal setting (identification and evaluation of personal desires and objectives, negative thoughts, and choosing a priority goal); 2) goal planning (choosing methods and strategies to overcome obstacles), and 3) goal pursuit (concrete actions and adjustments). The program has led to increased values in the variables “meaning of life” (significant), feeling of “serenity”, “self-determination”, and the “ability to set, plan, and pursue a goal”. The authors suggest that to produce a significant improvement in all areas, a more sustained rehabilitation program is needed.
Implications and recommendations
To establish early rehabilitation measures for individuals with USH, an early diagnosis is needed. In view of such genetic treatments as next generation genome sequencing5, an early diagnosis could be provided with relatively few costs.
The results of the studies show clearly that psychological problems have to be more focused in research studies. This means that in individuals with USH, the psychological problems should be addressed, assessed and treated.
It is important to make aware the psychological stress and problems occuring in the lifes of individuals with USH. Their mental issues could be assessed using standard questionnaires or inventories.
Psychotherapy could be suggested to help individuals with USH to reduce their fears and worries; suggest ways for them to overcome their social isolation and depression. However, it is more important for these individuals to have contact with experts who understand USH and its consequences. For instance, understanding the personal losses due to USH (e.g., driving, employment, independence etc.) and the fear or worry related to these losses, such as going blind (Miner, 1997). According to Miner (2014) these personal factors are more urgent and important for the individual than knowing the medical details about USH. Furthermore, this type of intervention should considered together with attempts to find humour in everyday situations and learning how to use humor as a coping strategy. To succeed this requires interdisciplinary cooperation among medical specialists, psychologists and paedagogics. “USH is about loss, change, adaptation, information, communication, normalization, and fighting against the isolation“ (Miner, 2014). Our professional roles, according to Miner, are to mitigate the impact on those we teach, treat, are friends with and love.
For more information, contact Nadja Högner
5 The catch-all term used to describe a number of different modern sequencing technologies.
Côté, L., Dubé, M., St-Onge, M. & Beauregard, L. (2013). Helping persons with Usher syndrome type II adapt to deafblindness: An intervention program centered on managing personal goals. British Journal of Visual Impairment, 31 (2), 139–149.
Ellis, L. & Hodges, L. (2013) Life and changes with Usher: The experiences of diagnosis for people with Usher syndrome. University of Birmingham/School of Education. Online http://www.birmingham.ac.uk/Documents/college-social-sciences/education/projects/final-report-on-life-and-change-with-usher.pdf (retrieved 07.01.2015).
Figueiredo, M.Z. de A., Chiari, B.M. & Goulart, B.N.G. de (2013). Communication in deafblind adults with Usher syndrome: Retrospective observational study. CoDAS, 25 (4), 319–324.
Högner, N. (2012). Untersuchung zu Stresserfahrungen und-ursachen bei Usher-Syndrom – Ergebnisse und rehabilitationspädagogische Maßnahmen. In: U. Horsch & A. Wanka (Eds.), Das Usher-Syndrom – eine erworbene Hörsehbehinderung. Grundlagen – Ursachen – Hilfen (pp. 141–150). München: Reinhardt.
Högner, N. (unpublished, 2014). The role of humor in individuals with Usher syndrome – Results of an empirical study [presentation]. Deafblind International Usher Network Pre-Conference, Belfast, North Ireland.
Högner, N. (2014). Entwicklung und Evaluation eines Fragebogens zur Erfassung der Häufigkeit und Intensität von Stress durch externe Stressoren bei Personen mit Usher-Syndrom Typ II [Dissertation]. Heidelberg: Median-Verlag.
Högner, N. (2015a). Psychological stress in people with dual sensory impairment through Usher syndrome type II. Journal of Visual Impairment & Blindness, 109 (3), 185–197.
Högner, N. (2015b). Stress in individuals with Usher syndrome type II – Results of an empirical study. DbI Review, 55, 61–64.
Kimberling, W.J. & Möller, C. (1995). Clinical and molecular genetics of Usher syndrome. Journal of the American Academy of Audiology, 6, 63–72.
Miner, I. (1997). People with usher syndrome, type II: Issues and adaptations. Journal of Visual Impairment & Blindness, 91 (6), 579–589.
Miner, I. (2014). Family and personal responses to the diagnosis of Usher syndrome [Speaker Abstract]. Abstract Book, International Symposium on Usher Syndrome, Boston, USA, pp. 79–80.
Möller, C. (2007). Deafblindness. In: A. Martini, D. Stephens & A.P. Read (Eds.), Genes, Hearing and Deafness. From Molecular Biology to Clinical Practice (pp. 55–61). Informa Healthcare. Online http://www.crcnetbase.com/isbn/9780203089828 (retrieved 09.01.2015).
Wahlqvist, M., Möller, C., Möller, K. & Danermark, B. (2013). Physical and psychological health in persons with deafblindness that is due to Usher syndrome Type II. Journal of Visual Impairment & Blindness, 107 (3), 207–220.
Wahlqvist, M. (unpublished, 2014). Some aspects of physical and psychological health and wellbeing in Usher syndrome [presentation]. International congress in deafblindness, Potsdam, Germany.