Etiology of Albinism - Research Paper

Introduction

Albinism is a genetically related disability that is caused by genetic mutation usually inherited from parents. This mutation interferes with the production or distribution of melanin, a black pigment responsible for protecting the skin form U.V rays and a significant pigment for eyes development. It enables a healthy development of the retina, which is a light-sensitive tissue lining in the eye and the optic nerve fibers which assist in image relaying to the brain. Children are usually at risk of being conceived with albinism if their parents are suffering from albinism or are carriers of the albinism gene. Albinism can only be diagnosed accurately through genetic testing, to identify the presence of defective genes related to albinism. Other ways which do not offer accuracy are symptoms evaluation by a physician or an electroretinogram examination, which is used to measure the eyes' response to the light-sensitive cell to expose an eye problem related to albinism.

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According to Toyofuku (2002), albinism has various phenotypes that result from alterations in different coloration genes convoluted in melanogenesis. The most popular type of Albinism is the Oculocutaneous Albinism type 2 (OCA2). This is an autosomal declining syndrome generated by alterations in the p gene, whose functions are controversial. Another type of albinism is the OCA1, which is a defect in the tyrosinase enzyme (Gronskov, Ek & Brondum-Nielsen, 2007). It has two categories, that is the OCA1a and OCA1b. the OCA1a is characterized by a total lack of melanin, where the pigment that provides color to the skin, eyes, and hair is completely missing (Toyofuku, 2002). People having this type of albinism have completely pale skin, very light eyes, and white hair. The OCA1b is characterized by the production of some amounts of melanin, though not enough to give pigmentation, and with age, their coloring might develop. Their skin is light-colored, their eyes and hairs are light colored too (Toyofuku, 2002).

Symptoms of Albinism

Albinism is a genetic disorder characterized by mostly visual impairments, whose effects are diverse in the daily aspects of life. People with albinism usually have the following symptoms:

• The absence of color in some areas of the skin, forming patches.
• Lack of normal hair, eye, and skin color.
• A light coloring of the skin, eyes, and hair, that is lighter than normal.
• Upon exposure to the sun, they may develop pink moles on their skin due to fewer quantities of pigments, or freckles on their skin, or large freckle spots, lentigines.

The visual symptoms of albinism include:

• Crossed eyes, a condition referred to as strabismus.
• Eyes are very sensitive to light, a condition referred to as photophobia.
• Their eyes have an involuntary rapid eye movement, a condition referred to as nystagmus.
• They often have either total blindness or impaired vision.
• The irregular curve of the cornea, which causes fuzzy, distorted or blurry vision, a condition referred to as astigmatism.
• Their eyes are usually lazy, a condition referred to as amblyopia.
• The person has very extreme nearsightedness, myopia, or extreme long-sightedness, hypermetropia.
• Visual impairment due to the undeveloped optic nerve, a condition referred to as optic nerve hypoplasia.
• Unusual nerve routes followed by the nerve signals to the brain from the retina, causing visual impairment, a condition referred to as optic nerve misrouting.

Albinism Treatment

Albinism has no cure since it is genetically inherited (Toyofuku, 2002). However, the symptoms can be treated, by minimizing the effects and observing changes. For the eye complications, one can get prescription eyeglasses and corrective eye lenses, which should be medically examined to help the patient as per the symptoms are shown. The Albinism patient should have regular eye checks by a professional ophthalmologist, who is well trained and has a good experience. Surgery can be done on the optical muscles to minimize the nystagmus shaking. Although surgery cannot minimize strabismus, it can make the symptoms less visible, neither will it increase vision. This will, however, vary between individuals.

To protect the skin from direct sun rays, albinism patients should medically have approved broad-spectrum sunscreens and any other sun blocking method that does not bring any adverse effects on their sensitive skin. Moreover, one should observe any changes in their skin color and visit a physician in any. Frequent skin cancer screening is important, to detect any chances of skin cancer or abrasions that could lead to cancer. Melanoma, aggressive type of skin cancer always appears on the skin as pink lesions. People with albinism should wear protective clothing when outdoors to prevent them from contacts with the radioactive rays.

Misperception about the disorder is the toughest issue that the people with albinism have to deal with. Children may experience isolation by the other children, questions concerning their disorder, or even bullying and prejudice from their peers. Parents should work with the therapists when the child is still young so as to prepare them for the challenge. People with albinism can do anything a normal person can achieve in terms of education and employment. It does not speed up aging, neither does it become worse with age.

General Adaptation Guidelines for the Disability Area.

Equal treatment to people with disabilities does means that they get rights that are equal to every other person, including expression, working, the movement that will enable them to live like any other human being. They have additional tools that make them carry out their normal activities with ease, which supplement the parts that are impaired. Carry out career education by introducing guest speakers who have impairments to talk about their careers, connecting with people who are impaired and have careers in sports and let them offer guidance, either in person or through phones or emails (Schedlin, 2012). Carry out searches on the internet for people with impairments and are involved in a sport-related or recreational activity.

For sensory efficiency skills, use of music, and sounds that show the beginning and the end of an activity can be employed. Using brightly colored or neon tapes to show boundaries can help students with low vision. Where targets are required, for example in archery, placing a source of sound behind the target area helps in localization. Where movement is required, like in sprinting the student can use sound as the target to move to the place. To instill self-determination to the impaired students, preparing the students to achieve success in different activities such as sports will act as a medium (Karlen, Milestad & Pansell, 2019). Providing a variety of choices for the games will allow the students to develop autonomy, and ability, while allowing them to get good relations with the families and their peers. Letting students make their choices of what accommodations they need to take part in, not making assumptions based on the previous students. Keeping a track of the student's performance and their goals. Getting ahead of these goals can improve the self-confidence of the child in sports (Karlen, Milestad & Pansell, 2019). Teach the students some long life activities that they will need in their future after graduation, including what they will need to modify so as to participate. This should be done by directly involving them in making the modifications and accommodations (Karlen, Milestad & Pansell, 2019).

How Ball Games Can Be Adapted for P.E Classes

Some strategies that have been put in place to infuse the Expanded Core Curriculum adaptation include getting demonstrations from the trainer or peers (Vanderbom, Eisenberg, Tubbs, Washington, Martinez & Rauworth, 2018). This includes showing the desired skill and movement to the disabled person. Carrying out demonstrations within the child's vision area. Asking someone who is the same size as the disabled person to model and demonstrating the whole skill repeatedly, using the parts involved (Cox & Dykes, 2001).

Using sound devices when training the disabled is also another adaptation guideline to the disabled area. Making the play balls as loud as possible, by using techniques such as cutting the ball and installing some bells then resealing the ball. Also, making scoring audible by tying bells on the score nets. All the people will be able to hear the jingling sounds from the nets when a goal is scored. For the softball games, using a beeper ball that beeps when it hits the ground. For games like the basketball, tying a can with stones that are tied at the rim, and a peer jiggles it to emit a sound when a goal is scored. Enhance the visual of the child by increasing the contrast of the background equipment. Use brightly colored balls, goal posts, markers to increase visibility.

References

Gronskov, K., Ek, J., & Brondum-Nielsen, K. (2007). Oculocutaneous albinism. Orphanet journal of rare diseases, 2(1), 43.

Toyofuku, K., Valencia, J. C., Kushimoto, T., Costin, G. E., Virador, V. M., Vieira, W. D., ... & Hearing, V. J. (2002). The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment cell research, 15(3), 217-224.

Karlen, E., Milestad, L., & Pansell, T. (2019). Accommodation and near visual function in children with albinism. Acta ophthalmologica.

Cox, P. R., & Dykes, M. K. (2001). Effective classroom adaptations for students with visual impairments. Teaching Exceptional Children, 33(6), 68-74.

Vanderbom, K., Eisenberg, Y., Tubbs, A., Washington, T., Martinez, A., & Rauworth, A. (2018). Changing the Paradigm in Public Health and Disability through a Knowledge Translation Center. International journal of environmental research and public health, 15(2), 328.

Schedlin, H. (2012). The academic learning time in physical education of students with visual impairments: An analysis of two students. Insight, 5(1), 11.