Usher syndrome belongs to the number of hereditary diseases that occur extremely rarely. Its negative impact on the human body cannot be overstated as there are a lot of cases when this diagnosis is associated with various mental diseases such as schizophrenia in people of different age (Domanico, Fragiotta, Trabucco, Nebbioso, & Vingolo, 2012, p.1).
Nowadays, specialists single out three subtypes of the disease that can be characterized by different degrees of manifestation of loss of eyesight and deafness. To begin with, this disease involves a lot of dangerous symptoms that can significantly decrease the quality of life of the patient. Due to its negative impact, people suffering from this disease become unable to perceive different sounds and colors; being deprived of the opportunity to live a full-fledged life, such people also seem to be at risk when it comes to various depressive disorders (Rais, T., & Rais, A., 2006). There are a few factors related to the development of the discussed syndrome and its negative impact. First, the cause of the disease is connected to genetic interactions. There are a few specific genes that can contribute into the development of the disease in case if they are with defects (Yan & Liu, 2010). Then, if the child inherits defective genes both from mother and father, he or she is likely to suffer from this disease in the future. It also happens that two members of the family have this disease (Hen-Ying & Chih-Chiang, 2006). Therefore, we may state that genetic defects remain the primary factor that causes Usher syndrome. Unfortunately, it is not easy to minimize negative impact of the disease on patients’ organisms and mental outlook (“Usher syndrome: Symptoms and cause”, n.d.). The two functions of the human body (vision and sense of hearing) that are affected because of the disease allow us to communicate with other people, and those suffering from Usher syndrome tend to have psychological difficulties and feel that they are not accepted by the society. Also, it is necessary to say that it often happens that Usher syndrome manifests itself simultaneously with various mental disorders, especially in children.
Speaking about Usher syndrome and certain mental illnesses that can be related to it, it is also necessary to regard certain factors that may increase the risk of development of this disease. To begin with, it is believed that there are certain groups of people who suffer from this disease more often than the others. Thus, these groups of population include Ashkenazi Jews, Canadians, and Swedish people. What is more, it is known that this syndrome is closely associated with mental disorders. For instance, the researchers claim to have found out that every fifth case of Usher syndrome in Sweden is associated with psychotic disorder (Domanico, Fragiotta, Cutini, Grenga, & Vingolo, 2015). Many groups of disorders often occur simultaneously with Usher syndrome in children and adult people. For instance, they include manic depressive disorders and schizophrenia. The first signs of disease are usually seen in children. When their eyesight and hearing are constantly deteriorating, many children become more difficult to communicate with, they start being aggressive and demonstrating inappropriate behavior for their age (Dammeyer, 2012). Also, there are many cases of mental illnesses among adults suffering from the discussed syndrome. As for the most common situation, adult patients seem to suffer from psychosis (Rijavec & Grubic, 2009). What is more, it seems that Usher syndrome can have a negative influence on the entire organism and prevent the patient from proper mental development; there are many patients with mental retardation. Therefore, it may be stated that there are certain parts of population (national groups) that are more likely to suffer from this genetic disorder and concomitant mental illnesses although the cases of this disease are quite rare.
Unfortunately, if we take into consideration the present level of medical care, it becomes clear that it is impossible to manage this disease and eliminate all its negative effects on the human body. Nowadays, the only measures that can be taken to help the patient are aimed at slowing down the process of development of the disease. Thus, the methods that are used help to maintain eyesight level and hearing health as long as possible. To do that, it may be necessary to take vitamins, special medical drugs, and use acoustic aid. To make a diagnosis, it is necessary to conduct a fundoscopy and an electroretinogram test to examine the state of visual organs. Also, it is necessary to pay attention to certain symptoms of mental illnesses that may be manifested in patients’ behavior and conduct special tests to identify the problem. As for specific issues that occur during treatment and education, it is necessary to say that it may be very hard to communicate with people suffering from this disease. In addition to serious problems with hearing and eyesight, children with this syndrome often have difficulties when they need to express their thoughts with the help of verbal means. Due to these difficulties, some children cannot speak at all, and this is why education becomes a very hard process. Considering the problems caused by concomitant mental illnesses, it is often impossible for such children to visit classes and work together with their peers, and this is why it may be necessary to develop a specific strategy to give these children an access to education. Also, there are many problems connected to people’s attitude towards ones suffering from the disease, and it is important to establish practices allowing to protect these people more.
References
Dammeyer, J. (2012). Children with Usher syndrome: Mental and behavioral disorders. Behavioral and Brain Functions, 8(1), 16.
Domanico, D., Fragiotta, S., Cutini, A., Grenga, P. L., & Vingolo, E. M. (2015). Psychosis, mood and behavioral disorders in Usher syndrome: Review of the literature. Medical Hypothesis, Discovery and Innovation in Ophthalmology, 4(2), 50–55.
Domanico, D., Fragiotta, S., Trabucco, P., Nebbioso, M., & Vingolo, E. M. (2012). Genetic analysis for two Italian siblings with Usher syndrome and schizophrenia. Case Reports in Ophthalmological Medicine, 2012(1), 1-6.
Hen-Ying, W., & Chih-Chiang, C. (2006). Usher syndrome with psychotic symptoms: Two cases in the same family. Psychiatry & Clinical Neurosciences, 60(5), 626-628. Web.
Rais, T., & Rais, A. (2006). Acute psychosis with paranoid features in a young patient with Usher’s syndrome: A case report. J Tenet Hum, 18(1), 57-88.
Usher syndrome: Symptoms and cause (n.d.). Retina Australia NSW. Web.
Rijavec, N., & Grubic, V. N. (2009). Usher syndrome and psychiatric symptoms: A challenge in psychiatric management. Psychiatria Danubina, 21(1), 68–71.
Yan, D., & Liu, X. Z. (2010). Genetics and pathological mechanisms of Usher syndrome. Journal of Human Genetics, 55(6), 327‑335.