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Downs Syndrome

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Down syndrome


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Down syndrome

Definition and Description

        Down syndrome is basically a disorder that affects the chromosomes and is related to intellectual impairment, a specific facial expression as well as the weakening of muscle tones, that is hypotonia in children. Apparently, every affected person suffers from cognitive delays, although the intellectual impairment is normally mild tending to moderate (Dekker, et al., 2018). Individuals with this condition may have numerous birth defects with an estimated half of every infected infant are born with heart conditions. In fact, digestive challenges, for instance, intestinal blockage are not as common with an individual with Down syndrome. Ideally, the parents of the Down syndrome patient are normally genetically normal (Carr & Collins, 2018). Notably, the possibility is elevated from an estimated o.1 per cent in mothers who are 20 years of age as compared to 3 per cent in mother over 40 years of age. In essence, the surplus chromosome is deemed to occur by sheer luck, with no established characteristic activity or even environmental parameters that vary the probability.

        People with DS have an elevated risk of suffering from numerous clinical complications. These complications include celiac disorder, which is simply intolerance to wheat protein also referred to as gluten and the gastroesophageal reflux, defined as the backflow of stomach contents that are acidic into the oesophagus (Dekker, et al., 2018). Reports have indicated that an estimated 15 per cent of individuals with Down syndrome develop under-functioning thyroid organs, that s, hypothyroidism. Actually, the thyroid gland is a butterfly-shaped tissue situated in the lower part of the neck and it serves to secrete hormones (Carr & Collins, 2018). Hence, Down syndrome patients are also at elevated risk of developing vision and hearing challenges. Besides, a small number of kids with this condition develop leukaemia, which a form of cancer of the blood.

Risk factors and Etiology

        Despite the aetiology of Down syndrome not being fully known, numerous studies have revealed that the condition is associated with periodontitis is developed due to a number of parameters. They range from deficiencies of the immune system, deplorable oral hygiene, early senescence and fragile tissues of the periodontics to the deficiency of saliva and compromised masticatory functioning (Dekker, et al., 2018).  Besides, people who develop early colonization through different periodontal microbes, as well as those who show symptoms of an extreme innate immune reaction to generate inflammatory inhibitors for instance prostaglandin E2 and the matrix metalloproteinase (Carr & Collins, 2018). Notably, recent studies on Down syndrome adhesion of cells molecule offers further support for elevated susceptibility to viral as well as bacterial ailments in DS.

        On the other hand, there exist no environmental parameter like microbes or even carcinogens that have been found to cause Down syndrome, nor does lifestyles decisions for instance smoking lead to the development of the condition. Nonetheless, the only substantiated non-genetic risk parameter for bearing a child with this condition is simply termed as advanced maternal age, in other words above 35 years of age (Dekker, et al., 2018). However, this does not explicitly imply that bearing a child below the age of 35 is a credible approach to mitigating DS. In fact, an estimated 81 per cent of infants with DS are conceived by women in the age bracket of 35 years and below.

                Health practitioner Implications of prevention

        The nursing care that is offered during inpatient is quite different to that offered to outpatients with DS. Ideally, caregivers ought to adjust their care accordingly to safely attend to a child with Down syndrome (Carr & Collins, 2018). It is important for nurses to carefully place a child with this condition during treatment since such patients often have joint ligament laxity. Notably, wrong positioning can serve to damage the patient's cervical spine as well as the fact that the neck and the head being specifically susceptible to subluxation of joints. In the instant that a patient with DS is undergoing a surgical procedure, the nurse ought to remind the team doing the operation to position the patient accordingly so as prevent joint injuries (Dekker, et al., 2018). Some children with Down syndrome may elicit elevated feeding challenges as a result of reducing endurance as well as low arousal. Essentially, children could have challenges sucking as well as swallowing and they are at a specifically increased risk of aspirations. Notably, the nurse attending to the child ought to closely oversee the nutrition as well as feedings (Carr & Collins, 2018). Certainly, in some instances, nurses could recommend enteral feeding so as to guarantee the child is getting proper nutrition. Older kids could possibly have challenges with nutrition in the event that they are unable to cope to new textures or even cups (Dekker, et al., 2018). Subsequently, is a simple resolution is not available the nurse practitioner can seek guidance with pathologist of speech and language as well as nutritional experts to organize care.

Progression of the initial injury to defect in organ or tissue

Stunted developments, as well as character challenges, are usually recorded in children suffering from DS. The language and speech of patients with DS develop eventually and slowly as compared to normal children and thus it is hard to understand the speech of DS children (Carr & Collins, 2018). Additionally, behavioural problems could encompass attention issues, compulsive or obsessive tendencies as well as tantrums and general stubbornness. However, a small number of patients with DS also develop other developmental disorders, also termed autism spectrum conditions, which usually impair communication as well as social encounters.

        Down syndrome patients normally experience a streak of gradual deterioration in cognitions as they grow older, starting from 50 years. Besides the conditions is also related to an increment in the risk of suffering from Alzheimer’s conditions, a brain conditions that causes gradual memory loss, judgment as well as functioning ability (Dekker, et al., 2018). In fact, an estimated 50 per cent of adults with DS eventually develop Alzheimer’s. Despite Alzheimer disorder is a condition that develops in older individuals, patients with DS often develop this disease once they attain 50 or 60 years of age.



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