Pierre Robin Sequence Case Study

The purpose of this report is to provide information for submission in funding a new service. The service will be based in Kingaroy and provide services throughout the South Burnett region. This submission of funding will join in partnership with a local Aboriginal and Torres Strait Islander agency. The information was gathered from a variety of sources.

What residents face on remote islands involving medical care is extremely different than what our health care looks like. For every island the nearest hospital is at least a ferry ride away, and sometimes that means a month away. So how do remote location such as the islands of Penobscot Bay deal with these problems they face? Medical care on islands is something that differs completely depending on which island.

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

Waminda is a women’s health and welfare Aboriginal corporation on the south coast of New South Wales, in the area of Shoalhaven. Shoalhaven is a community with an Indigenous Australian population of 6.2% (ABS, 2010). However, with this high density of Indigenous population means there are also high levels of morbidity from chronic disease, premature mortality and low levels of private health insurance (Health, Illawara Shoalhaven Local Health District, 2012). Waminda provides a free service where they “aim to empower and support Aboriginal women in making their own health decisions and reduce the high rate of ill health among Aboriginal/Torres Strait Islander women in the Shoalhaven community” (Waminda, n.d). As a very family orientated population 71% of Indigenous Australian women in the community have had children illustrating the need of a

While implementing Primary Health Care models, identical to those in metropolitan areas, in a rural setting is not practical, I feel there is an obvious need to improve primary health care in remote areas. This is due to the significant health gap between Indigenous and non-Indigenous Australians, in rural and remote areas

Medical travel can be very stressful physically, emotionally, and financially. Moreover, due to very high unemployment rate most of the families cannot afford to have their own transportation vehicles to access primary care in the community. Transportation issue can also lead to missing appointments or delayed treatments. There are minimal health care services in the aboriginal communities, particularly those that are in rural, remote, and in north with limited to access to medical technology, equipment, supplies and medications (HCC, 2013). Majority of Aboriginals do not have access to technology, therefore, access to health information and promotion is limited. Telehealth and other virtual or mobile health care programs are available; the problem is that communities do not always have adequate information and communication technology and other infrastructures to reliably deliver these programs. The lack of a modern

Duane’s Syndrome is a rare genetic disorder. A Genetic disorder is usually a irregularity in the genes or in the chromosome, these irregularities can be anything from not fully developed, not being there at all, or even having an extra unneeded set. These When someone thinks of a genetic disorder they may think of the very well known disorder of Down's Syndrome, but what people may not know about is the rare disorder called Duane’s syndrome. This syndrome is eye movement limitation syndrome that is usually involved with restricting the eye(s) from moving to the left or right. Moving the eye towards the nose could result in the eye restricting, and/or the eye shooting up or down (Duane syndrome). The simple reason that it is a lesser known

This report provides the summary of the health services provided by The Aboriginal Health Council of South Australia.

There are three distinctive characteristics that people with cri-du-chat syndrome exhibits. The first distinction is during birth; babies who are born with the syndrome have “a distinct high pitch monochromatic cry,” that resembled a crying cat. The cat-liked cries usually fade away within their second year of life. Additionally, they have low birth weight. The second is a clinical distinctions which varies from patients to patients, however, the physical appearance of the person may have a rounded face structure, eyes wide apart, malocclusion, and microcephaly (small head). Another example is the palm of their hands; the line on the palm goes straight across the entire palm. The third characteristic of the syndrome deals with intellectual disability and it ranges in degree (Pituch, 2010). According to Kristoffersen (a professor in Linguistics and Scandinavian studies) tested 26 children and their IQ test ranged from 40 to 57. Kristoffersen also reported children with cri-du-chat have behavior complications for instance, “hyperactivity, stereotyped aggressive and self injurious behaviors.” Speech and language development are also impaired with individual of cri-du-chat syndrome.

Rural and remote Australia refers to those areas outside of major cities and are made up of many diverse towns including pastoral, farming, mining, and Aboriginal and Torres Strait Islander communities. The Atherton Tablelands, a highland region of northern Australia near Cairns, is classified as a rural and remote area. This essay will provide a profile on Atherton including the demographical, geographical, environmental, and cultural features as well as how these factors impact on the health of individuals within the community. It will all discuss the various theories and models of care used at the Atherton Hospital, the role of the registered nurse and the multidisciplinary team. The specific knowledge and clinical skills required for registered nurses will also be outlined, as well as examples of how these skills could be demonstrated.

Trisomy 21 also called Down syndrome, is an abnormality at a chromosome level and is believed to be the most prevalent genetic impairment (Bukato & Daehler, 2012, p. 89). Compared to other children with related mental development, a child with Down syndrome has academic impairment such as language and memory, their physical development is considered slow, and they possess unique traits. Some of these traits consist of almond shaped eyes, a flattened facial feature, broad hands, and an unusual crease in the center of the palm. Physical development is considered slow which results in being short in stature, height, and poor muscle tone. This syndrome causes poor vision including cataracts and other eye problem, immune system deficiencies. Forty percent

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

The deletion of chromosome 22 plays a crucial role in the development of a person. Since the major functions of the body are affected, daily life of someone diagnosed with DiGeorge syndrome has an underdeveloped reading and spelling comprehension. By the ause of low-average spelling and reading cognition, children with DGS have different learning environments in school. Children with this syndrome have to be put in special classes, because they learn on different, slower levels. On the severity of the disorder, some children have special courses and classes in school so they can reach their full potential. Daily life of someone diagnosed with DGS can vary on the criticalness of the disorder (Simon).

Duane syndrome is an eye movement disorder which is shown at birth. This disorder does not allow the movement of the eye inwards, upwards, downwards, and outwards due to abnormal nerves. There is three types of duane syndrome. The first type is not having the ability to move the eye outward towards your ears. The second type is not having the ability to move the eye inward towards your nose. The third type is not having the ability to move the eye towards both the nose region, and towards the ear. These are then put into three different subgroups A, B, and C. The subgroup type A is the affected eye is turned inward toward the nose. Subgroup B is the affected eye is turned outward toward the ear. Subgroup C is the eyes are in a straight primary

Structural chromosomal rearrangements can lead to a wide variety of clinical manifestations including intellectual disability (ID) and congenital malformations (1). ID is a diagnostic term that applies to patients in whom cognitive, communicative, and/or social functioning are reduced to a degree that leads to limited