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Researching the Down Syndrome

Introduction

Down syndrome is a chromosomal defect that occurs early in conception in which babies are born with an extra chromosome. Ordinarily, an individual is born with 46 chromosomes (23 pairs), but in the case of Down syndrome, one has an extra chromosome copy at the 21st position. As different etiologies exist for different types of Down syndrome, the overall effect is that the extra chromosome copy causes a discrepancy in the development of body and brain development (Centers for Disease Control and Prevention, 2014). Thus, the development results in cognitive and physical difficulties for the baby. Physically, individuals suffering from Down syndrome resemble each other but they have different abilities with different intelligence quotients (IQ) in the average to low range. Although Down syndrome is not fatal and is a lifelong malady, key in its manageability and increasing the longevity of affected people is a comprehensive understanding of what causes it and how to manage other diseases originating from it. In this view, the teaching plan delineates the pathophysiology and manifestation of Down syndrome, the care for the newborn, cultural and psychosocial considerations, and the likelihood of a second child with Down syndrome. Moreover, the plan examines the genetics behind Down syndrome and describes how a multi-disciplinary team can enhance outcomes.

Path physiology and Manifestations of Down syndrome

Down syndrome are associated with a myriad of mental and physical disabilities in the individuals diagnosed with it. In their study, Wiseman, Alford, Tybulewicz, and Fischer (2009) have implicated Down syndrome as the primary cause of Alzheimer’s disease, cardiac defects, learning difficulties, and leukemia. People with Down syndrome exhibit varying degrees of phenotypes, as mentioned earlier, with the exact cause of the variation still obscure. In a bid to demystify the pathology of Down syndrome, scientists designed studies aimed at identifying the exact genes on chromosome 21, which have an abnormal copy number and how their overexpression causes cellular and physiological alterations. In this regard, two approaches, genome-wide studies (GWAS) and the use of animal models of chromosome 21 trisomy have been embraced (Wiseman et al., 2009). GWAS has been vital in pointing polymorphism in the chromosome 21 genes while animal models have been integral in unraveling Down syndrome pathophysiology. In vitro studies, Wiseman et al. (2009) further assert that overexpression of dual-specificity tyrosine phosphorylation-regulated kinase IA (DYRKIA) in some animals. This expression culminates in the activation of other proteins, which in turn lead to the genesis of cardiac and mental defects.

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Down syndrome manifestations emanate from genetic anomalies during the process of chromosome segregation and meiotic non-disjunction. However, most manifestations occur due to abnormalities during meiosis I, resulting in an extra copy of chromosome 21 (Ghosh, Feingold, & Dey, 2009). An increase in scientific knowledge and improvement of karyotyping techniques over the years finally led geneticists to discover and elucidate various types of Down syndrome. Three types of Down syndrome are translocation Down syndrome, mosaic Down syndrome, and trisomy, which account for 95%, 3% and 5% of the total cases respectively (Centers for Disease Control and Prevention, 2014). Translocation Down syndrome occurs due to an enjoined chromosome 21 to other chromosomes. Mosaic Down syndrome occurs due to a combination of cells with normal and anomalous chromosome numbers while Trisomy 21 emanates from each somatic cell having three instead of the usual two copies of chromosome 21.

Care of the Newborn

Babies born with Down syndrome requires the same treatment as normal neonates. Neonates require a serene environment, motherly love, and tender care. Aside from receiving training as a co-therapist, parents should always show love and understanding. In the hospital setup, neonates with Down syndrome are under constant surveillance and immunized at the right age against polio, measles, mumps, rubella, and hepatitis B amongst other vaccinations (Marshall, Tanner, Kozyr, & Kirby, 2015). These vaccinations prevent the contraction of diseases and ear, nose and throat infections. The development of babies is also checked at every visit to the clinic, and in case of stagnation, physicians recommend referrals immediately because the babies are highly susceptible to stunted development. Clearly, caring for infants with Down syndrome is not an easy task and requires a lot of patience and commitment.

Breastfeeding

Infants with Down syndrome benefit a lot from breast milk, including reduced higher- and lower-respiratory tract infections and increased oral motor improvement, which is the basis of speech. Additionally, breast milk is rich in nutrients compared with other formulas. The merit that accrues from breastfeeding, therefore, underscores the need to feed babies with Down syndrome. Breastfeeding, however, is not easy for the mother because inabilities, such as heart faults in premature newborns, underweight, and long sleeping duration have compounding effects (Marshall et al., 2015). Key mitigating them is proper nursing skills because babies require special care and monitoring. For example, babies should be awake every 2-4 hours so that they can feed on pumped breast milk and occasionally feed on supplements to improve their weights. To keep mothers of babies with Down syndrome psyched, constant support from professionals during nursing is important and to this end, nurses, speech therapists, and nursing consultants have proven invaluable. Most importantly, mothers need to know that caring for a baby with Down syndrome demands a high degree of patience during nursing and teaching.

Cultural and Psychosocial Considerations

The fact that their children have Down syndrome sends parents into a state of confusion, characterized by a mixture of emotions, including anger, denial, and withdrawal. The parents thus need support at such times so that they can understand, accept, and manage the sad reality (Marshall et al., 2015). Physicians play a key role in informing the parents about the condition by pointing out the deformities and giving advice on how they can manage the malady. Children with Down syndrome present autism among other symptoms that affect speech development and cause anti-social behaviors. A child with Down syndrome strains the family financially, psychologically (depression and anxiety), and emotionally, and affects the relationship with other siblings and family members. Additionally, autistic individuals require an excessive amount of time and energy in their daily care, something that stresses mothers mostly. The main stress comes from the child’s state that contributes to anti-social behaviors, such as violence, destruction at home, tantrums, poor speech, and inept sexual communication. The key in combating stress is the existence of strong social support systems. Social systems teach coping mechanisms and encourage parents to stop being escapists and faulting themselves for the condition. Psycho-education on parents also helps to reduce stress.

Culturally, there is a misplaced notion that children born with deformities are outcasts and that their state is due to something the parents did. This notion causes stigmatization and segregation from society, which have negative effects on a family with such individuals (Chang & Kelly, 2007). To counter the aforementioned vices, society needs to understand Down syndrome and learn how to manage it. Parents and society should know that the malady is purely genetic, irreversible and completely out of their control. When people with Down syndrome integrate well with society and their condition is managed well, they live long and fulfilling lives, and even secure employment (Centers for Disease Prevention and Control, 2014). Society must understand that people born with Down syndrome are unique, but not outcasts. Therefore, people should not treat people with Down syndrome as lesser humans.

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Genetic Relationship and Testing

Down syndrome is a condition that is detectable during or after pregnancy using invasive and non-invasive methods. The methods used during pregnancy include screening and diagnostic tests. Screening is often in the first trimester and entails a combination of blood tests and ultrasound, which measure components of the mother’s blood, such as circulating traces of baby’s DNA and produce an image of the baby, respectively (Centers for Disease Control and Prevention, 2014). In ultrasound, the focus is the presence of excess fluids behind the baby’s neck, which is indicative of a genetic problem. Diagnostic tests are subject to a positive screening because they are invasive techniques, which check for a chromosomal abnormality. These tests include chorionic villus and amniocentesis sampling methods.

Postnatal diagnosis entails drawing blood from the baby and an echocardiogram. Analysis of blood samples checks for chromosome anomalies using karyotyping and an echocardiogram that produces an image of the heart is important in assaying for heart defects. These procedures are imperative in the effective diagnosis and management of the disease. Healthcare providers perform these techniques with high proficiency to avoid an event of a misdiagnosis.

Risk of Giving Birth to a Child with Downs Syndrome

As women advance in age, they experience increasing the risk of giving to birth children with Down syndrome. The incidence of fetal trisomy increases with maternal age, initially in a linear manner until women clock 30 and thereafter increases exponentially across all populations. The linkage between maternal age and Down syndrome is due to the complexity of oogenesis when compared to spermatogenesis. Oogenesis is replete with meiotic pauses that increase the likelihood of chromosomal missegregation (Ghosh et al., 2009). Additionally, researchers state that altered recombination, family history of trisomy 21, and previous trisomy 21 birth are among the risk factors (Ghosh et al., 2009). Previous trisomy 21 birth increases the risk of Down syndrome increases by 1% depending on maternal age and family history. Altered recombination leads to Down syndrome due to the randomness of the process, which causes non-disjoined chromosomes. In light of the above facts, the risk of giving birth to a second child with Down syndrome appears to depend on age and genetic factors.

Multidisciplinary Team

Since Down syndrome presents a plethora of complications, expertise in individual conditions is important in the overall management of the condition. During nursing, mothers of babies with Down syndrome usually face trying times and so professional help comes in handy in helping them cope with situations as they arise. Among the groups of expertise are occupational therapists, speech therapists, nursing consultants, pediatricians, and nurses (Marshall et al., 2015). These professionals monitor every stage of the babies’ development, ensuring their well-being by advising parents on how to cope with the condition as they manage it. These different professionals play their respective roles, which collectively ensure that the individuals with the malady survive. The collaboration of experts, therefore, is important in ensuring that children with Down syndrome receive appropriate care and live meaningful lives.

Conclusion

Down syndrome is a genetic defect that is inevitable and has no cure. Despite the mental and physical challenges it generates, the conditions associated with it are manageable resulting in functional individuals who lead normal and meaningful lives, well beyond their fifties. Vital in ensuring success in its management is a multi-disciplinary approach. The multi-disciplinary team comprises experts who advocate for and propagate the existence of strong social support systems, psycho-education for the parents, nursing care, pediatric care, speech therapy, cardiology, and most importantly, education aimed at de-stigmatizing Down syndrome. Demystifying and managing the condition will make society more knowledgeable about Down syndrome and ultimately, more receptive to people with the disease.