Usher Syndrome

Usher Syndrome
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Usher syndrome causes degeneration of hearing, vision degeneration, and vestibular dysfunction. Usher syndrome is hereditary and its manifestation requires a copy of the usher syndrome gene from each parent. This means that if only one parent has the gene but the other doesn’t, the child becomes a carrier with 50 percent probability but does not manifest with symptoms of the disease. The symptoms include loss of hearing, loss of balance, and retinis pigmentosa which causes night blindness and inability for side vision which further progresses to tunnel vision (US Department of Health and Human Services, 2008). There are different types of the usher syndrome gene and parents must have similar types for their children to manifest with usher syndrome (Florida Department of Education, 2012). Early detection is very important for the administration of appropriate interventions while vision is still at normal levels.
It presents in three different types with varying symptoms. Type one is characterized by bilateral profound inability to hear, areflexia and the degeneration of the retinal rods causing progressive impaired vision. Type 2 usher syndrome presents with normal vestibular function and moderate to severe inability to hear, which does not fluctuate through one’s life span. Type 3 manifests with loss of vestibular function, moderate to severe hearing loss that is progressive, and there is also vision impairment (Henricson, Wass, Lidestam, Moller, & Lyxell, 2012). Type one is the most is the most severe because the hearing loss is profound, there is loss of vestibular function and retinitis pigmentosa which results in progressive loss of sight (Yoshimuraa, et al., 2013).
People with type one usher syndrome begin to lose their vision in childhood and they are congenitally deaf. The loss of vestibular functioning also results into balance difficulties. In type 2 and 3 patients experience a gradual degeneration of hearing and sight. Those with type 2 have no overt balance problems but some patients with type 3 experience balance problems. The associated deaf blindness affects a patient’s communication and acquisition of language which affects a patient’s overall development. Children with type one and type 3 have late motor skills development. These children have poor adaptive behavior skills, intellectual disability, and sleep disorders. This is because they have brain abnormalities which have a negative implication on their cognitive, motor and acquisition of language (Dammeyer, 2012).
Type 1 and 2 are more prevalent. In type one, there is hearing loss that remains stable throughout one’s life. Hearing aids are not mostly not helpful for those with type one. Loss of sight begins at age 8-12 and continues to deteriorate into adulthood. Those with type two present with vision problems during teenage and some in their 30’s and forties. Their hearing problems may be addressed through hearing aids (Florida Department of Education, 2012). Late walking in children is a common predictor of delayed cognitive development in children (Dammeyer, 2012). Balance problems also affect a patient’s capacity for social development. They impede ones world perception and limits ca...