Genetic disorders cause severe forms of social, physical, mental, medical, and other complications. Genetic disorders similar to Hunter or Down’s syndromes produce numerous irreversible effects in the human organism. These effects and complications are further displayed through progressive mental retardation, delayed physical development, speech problems and cognitive disorders. Hunter syndrome, in particular, causes serious impact onto the way the child develops physically, mentally, and cognitively.
Speech, communication, and articulation of a person with Hunter syndrome suffer, too. In medical terms, Hunter syndrome is called “mucopolysaccharidosis II” and is known as a serious genetic disorder. “It interferes with the body’s ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans” (Motusky 94). Hunter syndrome is caused by the lack of sulfoiduronate sulfanatase – a human enzyme. As a result, the human organism lacks mechanisms of breaking down the mentioned mucopolysaccharides, and they are accumulated in body tissues.
It is often stated that Hunter syndrome is an “X-linked” recessive disease (Motulsky 99; Froissart 83). That means that the X chromosome carries the damaged gene. Males receive these genes from their parents and are primarily affected by this disease. When a female receives such gene from parents, she becomes its carrier, but does not suffer and does not display any symptoms of Hunter syndrome. From the viewpoint of genetics, a woman has 50 chances out of 100 to pass her “damaged” gene to her children (Motulsky 94). There are cases, when the gene is mutated in parent’s egg cell of even sperm.
According to the official statistics, “there are estimated to be approximately 2,000 people afflicted with Hunter Syndrome worldwide, 500 of which live in the United States” (Froissart 82). “Hunter syndrome affects approximately 1 in 100,000 to 1 in 150,000 people” (Shire). “Symptoms of Hunter syndrome are generally not apparent at birth” (Shire). Hunter syndrome causes numerous physiological, medical, and social deficits. To start with, patients with Hunter syndrome suffer severe or mild mental retardation (Froissart 83).
A child with Hunter syndrome will have learning problems at school; he will face the problems of socialization with other children. Hunter syndrome may be displayed through the child’s aggressive behavior or hyperactivity. However, the major problem of children with Hunter syndrome is progressive deafness (Motulsky 99). As a result of deafness, the child constantly perceives social, medical, physiological and environmental problems. Spleen and liver grow with time, causing nutritional deficits.
The suffering children experience joint stiffness, hypertrichosis, and their facial features are coarser as compared to healthy children of the same age. In reality, progressive Hunter syndrome turns a normal child into a person with minimal cognitive and motional abilities. It is important that “in the milder form of Hunter syndrome, individuals may still have hearing concerns and joint stiffness, […] but their intelligence is normal and they can live well into adulthood” (The Lysosomal Storage Disease Center). This is why communication issues are relevant only for those, who experience the severe form of the disorder.
Communication problems are of extreme importance, when a child is diagnosed Hunter syndrome. Numerous symptoms and consequences of this genetic disorder significantly contribute into communicational and mental retardation of a small patient. Although researchers frequently omit communication issues, communication and speech are seriously impacted by Hunter syndrome. Mental retardation is not the only factor which causes speech problems among children with Hunter syndrome. Mental retardation in Hunter syndrome is always combined with deafness (Motulsky 100).
Deafness is an extremely serious factor when a child learns to speak, to understand, and to express his ideas. Mental retardation in combination with deafness creates a synergic effect onto the way the child learns to speak. In addition, children with Hunter syndrome often have enlarged tongue, which also prevents them from speaking normally (Froissart 86). Children lack an ability to hear the speech of others; their articulation is wrong and ineffective due to the enlarged tongue and stiff muscles. Mental retardation impacts cognitive perception of environment.
The child is neither able to learn the language, nor can he express his thoughts or desires to those who surround him. Taking into account that mental deterioration of children with Hunter syndrome worsens with age, it is clear that communication problems become more serious as the child grows. Conclusion When Hunter syndrome is investigated and researched, deafness and mental retardation are rated as the most serious consequences of this genetic disorder. Yet, researchers rarely pay attention to problems with communication. The connection between communication and the development of Hunter syndrome is twofold.
On the one hand, progressing deafness, enlarged tongue, mental retardation and muscle stiffness distort child’s articulation; a child is not able to develop a normal speech. On the other hand, the inability of the child to interact with the outer world due to cognitive and language problems causes even worse mental retardation. The problem is that genetic disorders create extremely multifaceted effects on the human health. Hunter syndrome is not an exception. Communication issues deserve more medical and professional attention as applied to Hunter syndrome and its medical and social complications.
Froissart, R. “Mucopolysaccharidosis type II – social aspects. ” Acta Paediatrica Supplement 91 (2002): pp. 82-87. The Lysosomal Storage Disease Center. “Hunter Syndrome. ” 2008. Washington University School of Medicine. 27 March 2008. http://peds. wustl. edu/lsdc/hunter. html Motulsky, V. Human Genetics: Problems and Approaches. Springer, 1988. Shire. “Hunter Syndrome Fact Sheet. ” 2004. Shire Human Genetic Therapies. 27 March 2008. http://www. shire. com/shire/assets/pdf/1HunterSyndromeFactSheetFINAL. pdf