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Down Syndrome in Australia: Key Aspects

Introduction

This paper will make an in depth research analysis on Down syndrome in Australia due to the fact that a significant proportion of Australians’ population is either affected by it directly and indirectly, whereby more than 400 children are born with the disorder. The paper will analyze the causes of Down syndrome, its symptoms and ways of preventing or minimizing its occurrence among the population. In addition, the paper will discuss ways through which the society can give assistance to those affected by it and organizations around Australia that offer specialized assistance to people affected by down syndrome.

What is Down syndrome?

Down syndrome, also called Trisomy 21, was named after Doctor Langdon Down, who in 1866 first classified the syndrome among disorders. During that time Doctor Down made important recommendations about Down syndrome, though he did not correctly identify what causes the disorder. It wasn’t until 1959 that scientists discovered the genetic origin of Down syndrome (Koritsas & Iacono 2011, 36). Down syndrome is a genetic disorder that occurs in approximately 1 of 800 live births. It is the leading cause of cognitive impairment causing mental retardation and physical defects. Mostly, the occurrence of Down syndrome is caused by an unpredictable event that happened at some point in development of the reproductive cell or sperms. According to statistics, over 400 hundred children are born with the disorder with only 65 percent of the children seeking specialized help while the rest of the children aren’t offered the required attention to manage the disorder. In addition government records indicate that the disorder is diagnosed in 1 is to 355 pregnancies.

Causes

According to various specialists, Down syndrome cannot be attributed to any behaviors of the parents or the environment, however to a greater extent it can attributed to the presence of an extra copy of chromosome number 21, in fact the possibility that one more child with Down syndrome will be born in a future pregnancy is about 1%, in spite of maternal age. Nevertheless, this occurrence of Down syndrome increases with rising maternal age, thus many specialists recommend that “women expecting pregnancy at age 35 years and above should do prenatal testing for Down syndrome, this is because for woman younger than 30 to give birth to child with down syndrome is less than 1 in 1,000, but the chance of having a baby with Down syndrome increases to 1 in 400 for women who become pregnant at age 35” (Jokinen, Koritsas & Iacono 2011, 47). Selikowitz (1997, 102) observes, “The possibility of Down syndrome continues to increase as a woman ages hence at age 42 chances are 1 in 60 pregnant women will have a baby with Down syndrome, and by age 49 chances reduce to 1 in 12 women”.

Specialists have reported that the probability that a reproductive cell will have an additional replica of chromosome 21 rises radically as a woman gets older, hence increasing the risk of giving birth to a baby with Down syndrome. However, of the total population, only around 9% of the sum of all pregnancies happens in mothers aged 35 and above yearly, though around 25 percent of children with this disorder are born to mothers in this age bracket. Parents with children suffering from this disorder have raised the probability of the disorder in subsequent pregnancies, due to the reason that either of the child’s parents could be a balanced carrier of the trans-location (Torr et al 2010, 79). The trans-location happens when a copy of chromosome-21 attaches to another chromosome, mostly number 14, at the process of cell formation. If the “resulting sperm or ovum receives a chromosome-14 (or another chromosome), with a piece of chromosome-21 attached and retains the chromosome 21 that lost a section due to trans-location, then the reproductive cell contains the normal or balanced amount of chromosome-21. While there will be no Down syndrome associated features exhibited, the person who develops from this fertilized egg will be a carrier of Down syndrome” (Down Syndrome Association of Victoria 2010).

Characteristics

Although children with this disorder may share some characteristics and resemble each other, each child is different and greatly resembles their parents and families. Each person with Down syndrome is a unique individual just as all persons are unique individuals and can vary enormously in appearance, temperament and ability. Approximately 98% of people with Down syndrome have an intellectual disability.

It is associated with mild to moderate learning disabilities, developmental delays, characteristic facial features, and low muscle tone in early infancy. The symptoms of Down syndrome can range from placid to stern; many individuals with Down syndrome also have heart defects, epilepsy, depression, leukemia, gastro-intestinal problems, and other health issues. However, the life expectancy for people with Down syndrome has increased significantly in the last forty years with many now living beyond the sixth decade. Because of the invention of surgical correction of congenital abnormalities of the heart, improved nutrition and healthier living condition (Cheepers & Kerr 2005, 155)

Prevention

There is no prescribed way to prevent Down syndrome. However, the chance of having a child with Down syndrome increases as the age of the mother increases. Older mothers usually are offered additional screening tests to find Down syndrome in the uterus. Some researchers have suggested that an older father also increases the risk. Parents who already have a child suffering from this disorder are more likely to have another child with the same problem in subsequent pregnancies; however, genetic testing can help to determine the amount of risk (Kumni 1994, 40).

How to help those with Down syndrome

  1. People with Down syndrome need more attention, love and care like any other person. They can lead happier, independent and productive lives just like other people and all they need is our support.
  2. Health promotion and diseases prevention – This can be done by monitoring their heath and trying to identify the risks that they might be exposed to and try to guide them thro, they should be encouraged to do a lot of exercise to manage there weight and also be given a good diet.
  3. Provide guidance and support to those suffering from the disease so as to make them feel appreciated and not neglected this in turn also helps in (Buckley 2000, 23-25).
  4. People with Down syndrome should live with family or paid staffs that assist them in their daily lives. Knowing the home circumstances and support available is relevant to healthcare.
  5. A home visit may provide valuable insights to them as the sick see different people coming to see visit them gives them hope in life hence reducing things like depression and boredom it also promotes togetherness as thy fill that there is no big difference between them and other people.
  6. Disability support workers usually have training in disability, where they are trained in different fields while at the same time monitoring their health and illness which enables one to know each patients limit so that you don’t push them too far.
  7. Medication effects and implementing management where by the people around help and support them in the medication process like giving them there drugs on time and encouraging them to be strong (Thase 1982, 177).

Groups that support people suffering from Down syndrome

Down syndrome Victoria – it is a non profit organization which seeks and represents the needs and views of Victorians suffering from Down syndrome and there families. They provide the following to the families:

  1. Education support – the objective of this support is to provide educational programs and services that will promote the developmental achievements both in their environment and wider community. They provide teaching and learning strategies, behavior management, speech and language development, goal setting and program planning, assist individual learning process, professional development and links to relevant services.
  2. Family support – The institution believes that one of the most successful ways of supporting new parents is through contact with another parent who has been through a similar experience. They visit families in there homes and regional families are given phone support from the Down Syndrome Victoria office and can be put in contact with a family in their area (Alderson 2001, 638).
  3. Information – The families are also given full information concerning the disease and how to go about it without creating fears to them.

Down syndrome association WAThis association mainly supports parents with new born babies, it is sometimes difficult to deal with the situation especially with parents who have just found out that there baby is suffering from Down syndrome. Networking with other families can occur at any stage or at any time there is a need. If families feel isolated or if their son or daughter needs contact with someone in the same age group, they can be connected to other families or existing groups. Special interest groups can be set up where there is an interest or need. It provides the following:

  1. Social support – The association organizes several events that take place throughout the year which bring families together to socialize. The events include coffee mornings, picnics, socials, dinners, Christmas party, Family Fun Day and other events. Fundraising was also used as a way of bringing families together hence provide opportunities for families to come together with a common purpose and desire to make a contribution.
  2. Learning support – Families often find they need to talk about education options, schooling or behavior issues. They can access practical support and information through the Helpline. Where needed, experienced staff can visit schools to talk with student groups, parent groups or to trouble shoot behaviors with a class teacher.
  3. Down Syndrome WA also has a training and consultancy service available to teaching staff. Professional Development workshops for teachers are run early in the school year and advertised through schools and DSWA newsletters. Training packages can be delivered for a fee to teaching and support staff, or to the entire school staff group, on request (Amark & Sunnegardh 1999, 151-154).

The two groups are all associated with patients who are suffering from down syndrome and are both have directed there energy towards helping the sick, supporting their families and providing information about the disease. Since those organizations are non profit making companies it will be good if we people give them the necessary support that they need in terms of finance, material and moral support to enable them work smoothly and feel that people appreciate what they are doing.

Conclusion

Down syndrome is a disorder that anyone can be born with and it is difficult to predict that one is going to give birth to a baby suffering from the disorder. Besides its unpredictability, Down syndrome has no prevention or cure and therefore all that can be done is to support those with the disorder and to encourage those elderly mothers who initially have given birth to babies suffering from that disease and still want to have more children to undergo the tests necessary to reduces risk, and also scientific research on this issue should also be encouraged.

References

Alderson, P., 2001. Down’s syndrome: cost, quality and value of life. Social science Med, 53, 627–38.

Amark, K. and Sunnegardh, J., 1999. The effect of changing attitudes to Down’s syndrome in the management of complete atrioventral septal defects. Arch Dis Child, vol. 81(2), 151–4.

Buckley, S., 2000. Speech language and communication for individuals with down syndrome. Down syndrome issues and information (15), 23-56.

Cheepers, M. & Kerr, M, 2005. Reducing health disparity of people with disabilities. A report of the Special Interest Group of the International,101-215.

Down Syndrome Association of Victoria, 2010. Statistics about Down syndrome. Down Syndrome Association of Victoria. Web.

Koritsas. S. & Iacono T., 2011. Secondary conditions in people with developmental disabilities. Intellect Development Disability, 116, 36–47.

Kumni, L., 1994. Communication skills in children with Down syndrome. A guide for parents on Down syndrome (5), 10-53.

Thase, M., 1982. Longevity and mortality in Down’s syndrome. Journal of Mental Deficiency Research 26, 177–92.

Selikowitz, M., 1997. Down syndrome: the facts. Illustrated. London: Oxford University Press.

Torr, J., Strydom, A., Patti, P. & Jokinen, N., 2010. Ageing in Down syndrome: morbidity and mortality. Journal of Policy and Practice in Intellectual Disabilities 7, 70–81.

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OctoStudy. (2022, March 23). Down Syndrome in Australia: Key Aspects. Retrieved from https://octostudy.com/down-syndrome-in-australia-key-aspects/

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1. OctoStudy. "Down Syndrome in Australia: Key Aspects." March 23, 2022. https://octostudy.com/down-syndrome-in-australia-key-aspects/.


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OctoStudy. "Down Syndrome in Australia: Key Aspects." March 23, 2022. https://octostudy.com/down-syndrome-in-australia-key-aspects/.

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OctoStudy. 2022. "Down Syndrome in Australia: Key Aspects." March 23, 2022. https://octostudy.com/down-syndrome-in-australia-key-aspects/.

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OctoStudy. (2022) 'Down Syndrome in Australia: Key Aspects'. 23 March.

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