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A popular childhood disorder becoming increasingly more accepted and acknowledged in society is down syndrome. In 2019, there was roughly a recorded case of seven thousand Irish people diagnosed with down syndrome (downsyndrome.ie, 2013). On a public health system term (HSE.ie, 2018) they state that one of every 550 newborns can be affected by down syndrome. The main theme of this assignment will focus around this increasingly more common childhood disorder such as intellectual disability (ID), its causes, symptoms and relevant therapeutic strategies.
According to the official Irish Down syndrome website (Downsyndrome.ie, 2013), they define down syndrome as a cause of the child gaining an additional chromosome in their genetics, which they name as ‘chromosome 21’. This can have a lasting effect, both physically and mentally, and result in some disabilities or delays in the child's developments as it grows. This chromosome is important as it is responsible for functions like healthy heart development, development of the brain or physical features and metabolism homeostasis (HSE.ie, 2018).
Down syndrome is partially common in Ireland according to the official website (downsyndrome.ie, 2013) being diagnosed in one in four hundred and forty-four babies with down-syndrome annually. It is classified as a health problem which originates in the womb, and one cannot claim for it to be reasoned as or a cause of any disease or illness (Downsyndrome.ie, 2013). It is not gender specific as it can be sourced from either the mother or father. According to the Irish Health Service Executive (HSE) (HSE.ie, 2018), men have a likelihood of one in 35 of handing down the condition to offspring while females are five times more likely as they are estimated to be every one in eight. It can also be caused by a tiny proportion of all translocation trisomies being inherited or passed down from parents to their child. In addition to this, the myth of the older age of the maternal mother being the result of the child’s diagnosis is an incorrect statement. As according to the website (Downsyndrome.ie, 2013), the age does increase the probability of occurrence, but many children with intellectual disabilities such as down syndrome have mothers that are aged under thirty-five. The HSE (HSE.ie, 2018), states that the chances increase from one in every one thousand five hundred when you are twenty, to a huge growth of thirty times more likely when you become forty five (one in fifty).
Recent research suggests that environmental factors may influence the amount of cases in a specific geographical location along a small-time frame (HSE.ie, 2018). The factors are listed as exposure to infectious agents, oral contraception, inhaling tobacco or smoking, radiation or pesticides. There is a lack of substantial and concrete evidence to support this list and this may be only a series of coincidences colliding together. However, it is a fact that smoking has the capability to damage the baby and is warned against in prenatal development, as it can risk stillbirth, miscarriages and even premature births.
There can be three types of down syndrome that a child can be diagnosed with (downsyndrome.ie, 2013). Majority of cases (97%) are with the type called trisomy 21, children in this category have three copies instead of the usual two copies of chromosome twenty-one. It is due to the unusual division of cells in the development stage of either the sperm or egg. The second type, called translocation, is estimated to occur in only two percent of cases and is given its name because of a partial chromosome 21 moves and becomes attached to seperate chromosomes. However, they still have the additional two extra chromosomes. In half of babies it is seen as a special occurrence, but it can be a cause of a parent having a translocation themselves. Even if they show no symptoms, as in this case they still possess the normal amount of genetic material, but it can result in their children as a reoccurrence. The lowest occurring case is called “Mosaic”, with a record number of one percent, their condition is hinted in the name, it is due to their diverse cells being a mixture of normal and added chromosome 21 cells. What is interesting about this type is that abnormal cell division develops after fertilization and some babies even have fewer physical features associated with down syndrome.
Down syndrome is a permanent lifelong diagnosis that is without a cure, but with modern developments and good medical care plans implemented their lives can be extended to an expectancy of sixty or seventy years old (Downsyndrome.ie, 2013). This need for a good health care plan is because of the affect that having an extra chromosome has on the developmental process of the body (Downsyndrome.ie, 2013).
Like everything, each person can be affected in different ways and to various extents or degrees. Outlined by the HSE (HSE.ie, 2018) and Down Syndrome Ireland (Downsydrome.ie, 2013), they classify the following as physical symptoms which can be related to down syndrome: small, low positioned ears, back of head (occiput) is flat, small mouth capacity due to a moderately bigger tongue, which then leads to a protruding tongue, flattened nose bridge, vertical skin folds (epicanthic folds) between the upper eyelids and inner corner of the eye.
More bodily features include short fingers, they may have the facial feature of a small, flat and low bridged nose, broad hands with a single crease across the palm, loose skin on the back of the neck (nuchal fold) in newborns, loose joints especially in babies (they may seem 'floppy'), poor muscle tone (hypotonia). However, this can improve as they grow older over time or with support from a physiotherapy professional during their infant or early childhood stage. There is an attribute called Brushfield spots where on the iris, the part of your eye that is colourful, can be seen to have white spots. Their eyes may slant upward and may have additional upper lid skin fold, known as an epicanthic fold (downsyndrome.ie, 2013). Research proves that most individuals with down syndrome have a slow metabolic rate, this means that they are at an increased risk of weight issues in comparison to others of their age and stays a constant issue despite their age.
Although it may be easier to detect down syndrome due to physical symptoms the child may have, according to Richardson Gill (2017), there are distinguished medical difficulties which could be recognised as a symptom. For example, he states that congenital heart defects, impact on senses such as hearing or poor sight, cataracts in the eyes, chronic constipation or obesity. Some may experience leukemia, dementia or danger with interrupted breathing during sleep called sleep apnea. Statistics say that about half of young children with down syndrome who are born with heart defects can use avail of operations to correct such issues and the same with intestinal issues (Gavin, M. 2015). When suffering from sickness, such as respiratory infections, their recovery time is more prolonged than an average child's time.
The national health system in Ireland (HSE.ie, 2018) also classify learning difficulties and signs of delayed development as symptoms of down syndrome. For example, they state that their difficulties with learning can be anywhere from ‘mild to moderate’. This ranges from the child struggling with solving problems, having difficulties remembering either short-term or long-term facts, they may suffer with short attention span or not fully comprehensive of their consequences resulting from their previous actions.
There can be small delays in the norm pattern of development, both physically and mentally but it should be acknowledged that the majority, if not all of them, can learn to possess the identical skills as others to function mentally and socially (Downsyndrome.ie, 2013). The early movement of babies can often be quite mentally demanding, but for children with down syndrome they arrive at a milestone later when beginning to crawl, walk, language, reading or socialization and interaction skills (HSE.ie, 2018). They are impacted with their physical growth in terms of their height, reaching at an average of about 5.2 foot for men and women are faintly shorter at 4.6 foot tall.
There is no special secret to preventing or treating down syndrome, the best way to try to establish that the child has a pleasant, comfortable life is through professional therapists with their suggested therapies.
Flick (2012) has published a paper examining the conditions and problems of growing a child with ASD and how potential application of horticultural therapy can assist them. According to Simson and Straus (1998) a horticultural therapist facilitates a serene environment in a natural space and works with the child towards specific treatment goals. This type of therapy location is ideal for addressing issues such as development levels, sensory overload and necessary mundane skills without stressing the child. It is easily integrated into existing therapies to ensure their skill stages are met, while slow progress and medical conditions are acknowledged. There’s the added benefit of possibly reducing the hyper- or hypo-sensitivities (stress), while their self-motivation increases and socialization improves. Overall, there is a benefit to the health of the child as there is a flexibility with adjusting to the resources involved, such as materials and settings, which make it more feasible for the child to engage regardless of their conditions.
A professional physiotherapist has the knowledge to care for the child, to help ensure and stimulate a healthy lifestyle and wellbeing. They can use techniques that suit the child such as massage or manipulation that enhance their range of momentum, bodily abilities. For instance, this is used in cases of babies suffering with a weak muscle tone structure and need the assistance to roll, creep, walk. The physiotherapy can help strengthen their muscle to reduce hypotonia (HSE.ie, 2018).
Due to the psychical characteristic of the enlarged tongue, a speech therapist’s strengthening exercises of the lips and tongue can help with the protrusion to be better handled. Together they can work communication skills such as forms of verbal with language or non-verbal, body movements leading to better social skills to survive (HSE.ie, 2018).
Occupational therapists are similar to life coaches because they are a practical support system for those wanting to live with less dependence on others. They break down situations into more manageable instructions and helping them to learn to achieve independent success, eg. hypotonia and co-ordination for feeding (HSE.ie, 2018).
Down Syndrome Ireland (Downsyndrome.ie, 2013) like to say that ‘every person is an individual and this is no different for the person with Down syndrome’. This is a true and positive statement as even though there are some psychical variations between body shapes and sizes, mental activity and standardized stages of development there is no need to marginalize them from society. With the correct support, planning and awareness for them as an individual and what is included in the disorder of down syndrome, they have every right and opportunity to live happily with this childhood disorder.
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