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Research paper topic: Disorders - 1235 words
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.. to aid in normal development and rehabilitation. Limb deformities and repeated fractures can be corrected by intramedullary rods -- telescoping rods that elongate with growth. After surgical placement of the rods, extensive post- operative care is required because greater amounts of blood and fluid are lost. (Loeb, 755) It should be noted that the healing of fractures appear to be normal. (Isselbacher, 2112) Braces, immobilizing devices and wheelchairs are necessary.
Physical therapy is important in the treatment of OI. Bone fracture density in unfractured bone is decreased when compared with age-matched controls due to limited exercise, so it is essential to stay as active as possible. Physical therapy is also used for strengthening muscle and preventing disuse fractures with exercises with light resistance, such as swimming. Regular dental visits are necessary to monitor the teeth. Monitoring by opthalmol- ogists for vision and audiologits for hearing is also essential. Radiologists need to examine the structure and density of the bones, and an orthopedist is needed to set fractures and take care of other bone related problems. Counseling and emotional support is needed for both the patient and the family. It is important not to limit a child because of his/her disabilities, and to realize that many victims of this disease live successful lives. Debrah Morris, a successful business woman, and active fighter for disability rights and helping other patients of OI, says, If I had the choice to be anyone in the world, I would be exactly who I am.
The people I have met, the challenges I have faced, the opportunities that I have been presented -- all are directly related to dealing with being a little person with brittle bones. (Kasper, 53) Many of the symptoms of OI can be confused with those of a battered child. X-rays are used to show evidence of old fractures and bone deformities to distinguish the difference. The Osteogenesis Imperfecta Foundation (OIF) has is a national support group that offers assistance to families in this position and to increase public awareness. The OIF has a medical advisory council, chapters, support groups, regional meetings, biennial national conferences, and parent contacts to help families feeling alone and helpless. They also publish a newsletter, provide literature and videos about OI, and sponsors a fund to support research. Magnesium oxide can be administered to decrease the fracture rate, as well as hyperpyrexia and constipation associated with this condition.
(Anderson, 1127) A high-protein, high-carbohydrate, high-vitamin diet is needed to promote healing. A growth hormone has also been administered during childhood, and is shown to substantially increase growth. Treatment with bisphosphorates and related agents has been discussed to decrease bone loss, but no controlled studies have been done. (Isselbacher, 2113) RECENT RESEARCH Since there is no cure for oseogenesis imperfecta, appropriate and properly timed rehabilitation intervention is of the utmost importance to ensure that the child is able to function to the best of his/her ability in society. A ten year study that was submitted in 1992 proves this.
25 of 115 children with severe OI were observed since birth or infancy at the National Institutes of Health, MD and the Skeletal Dysplasia Clinic at the Childrens National Medical Center in D.C. One was Type I, two Type II, nine Type III, and thirteen Type IV. They were classified by physical characteristics and functional capacity: Group A consisted of those who were severely dwarfed with large heads and marked bowing , contractures, and weakness of extremities. The highest functional skill expected was independent sitting. Group B was growth deficient, but with a normal sized head.
Femoral bowing, scoliosis, and contractures of the hip flexors were characteristics. they were expected to stand and/or ambulate with braces. Group C were less growth deficient, and had good strength, but poor endurance. They had marked joint laxity and poorly aligned lower extremity joints, but were ambulators. (Binder, 386-387) Group A patients were the most severely involved.
Most were basically sitters. The majority were totally dependent in their self care. Group B had the potential to become at least short-distance ambulators. These patients had acquired the ability to move to sitting, but had transitional moving problems, such as sitting to standing. All were part- ially independent in their self care. Group C had antigravity strength and 50% had good strength in their extremities.
All were physically active and age-appropriately independent, but none were good long-distance walkers. (Binder, 387-388) Progressive rehabilitation of these groups all included posture exercises and active range of motion and strengthing exercises. Group B had additional ROM and posture exercises, as well as Developmental exercises. Group C added coordination activities. (Binder, 388) Conclusion, Management of patients with OI should address the childs functional needs.
Even though the degree of disability may be severe, management should not be limited to orthopedic procedures and bracing. Treatment planning should be considered, but not totally based on genetic, anatomical, and biochemical abnormalities. Our experi- ence suggests that clinical grouping based in part on functional potential can be useful in the appropriate management of children with OI.(Binder, 390) Independence was stressed in this study, and even patients with limited sitting ability, upper extremity function can be improved to at least minimal independence in self-help skills. Potential ambulators should be helped because, although their ability might not progress past indoor ambulation, walking will make them more independent and may result in increased bone mineralization. Poor joint alignment, poor balance, and low endurance can all be improved with persistent, individualized physical and occupational therapy. For best results, therapy should be started as soon after birth as possible. Mainstreaming school aged children is also important.
All of this together leads to age-appropriate social development and markedly improved independence and quality of life in the majority of patients.(Binder, 390) STATISTICAL DATA Osteogenesis imperfecta is the most common genetic disorder of the bone. It occurs in about 1 in 20,000 live births, and is equally prevalent in all races and both sexes. The Type I OI has a population frequency of about 1 in 30,000. Type II has a birth incidence of about 1 in 60,000. Types III and IV are less common and may be as high as 1 in 20,000.
(Isselbacher, 2111) The occurrence of OI in families with no history or blue sclerae is about 1 in 3,000,000 births.(Smith, 1995, 171) The recurrence risks in families is estimated to be 6 to 10%, but is only estimated because most couples choose not to have any more children. 15 to 20% of patients with OI do not carry the gene for abnormal collagen, making many wonder if there is yet another genetic problem undiagnosed at this time.(Smith, 1995, 172) Bibliography WORKS CITED Anderson, Kenneth N., ed. Mosbys Medical, Nursing and Allied Health -- 4th Edition St. Louis: Mosby, 1994: 112. Berge, L.N., et al.
Prenatal Diagnosis of Osteogenesis Imperfecta Acta Obstetricia et Gynecologica Scandinavica 4.74 (1995): 321-323. Binder, Helga, MD, et al. Rehabilitation Approaches to Children With Osteogenesis Imperfecta: A Ten-Year Experience Arch Phys Med Rehabil 74 (1993): 386-390. Isselbacher, et al. Harrisons Principles of Internal Medicine New York: McGraw Hill, 1994: 2111-2113. Jackson, Debra B., and Saunders, Rebecca B. Child Health Nursing Philadelphia: J.B.
Lippincott, 1993: 1696-1699. Kasper, Rosemarie. Osteogenesis Imperfecta: Brittle Bones, Sturdy Spirit Independent Living 7 (1992): 50-53. Loeb, Stanley. Diseases Bethelehem: Springhouse, 1993: 754-756. Paterson, Collin R. Clinical Variability and Life Expectancy in Osteogenesis Imperfecta Clinical Rhumatology 14.2 (1995): 228.
Slagboom, P.E. Collagen Genes and Skeletal Disorders The Lancet 342 (1993): 1045-1046. Smith, Roger. Osteogenesis Imperfecta, Non-Accidental Injury, and Temporary Brittle Bone Disease Disease in Childhood 72 (1995): 169-175. Smith, et al. The Brittle Bone Syndrome London: Butterworths, 1983.
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