What is the pathophysiology of Down syndrome?

Post author By Quality Essays
Post date January 10, 2023
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What is the pathophysiology of Down syndrome? Down syndrome is an exemplary example of a medical condition that occurs at birth and persists later in life, adversely affecting individuals’ health. The condition arises as a result of disordered genes, thereby the name Trisomy 21; genes are somatic packages that determine children’s growth during pregnancy and after birth (Centers for Disease Control and Prevention, 2022). The disease occurs when chromosomes fail to have proper separations, rendering affected patients with an extra copy of chromosome 21 in addition to the 46 typical chromosomes. Specifically, the pathophysiology of Down syndrome is an aftermath of alterations that result from nondisjunction and translocation of chromosomes (Bull, 2020). Down syndrome leads to developmental instability because of the loss of chromosomal balance, a notion that medical practitioners refer to as the gene-dosage effect. The prevalence of the disorder is one case in seven hundred to eight hundred births (Marianne Belleza, 2021). In the United States, approximately 6000 babies are born with the disease (Centers for Disease Control and Prevention, 2022). Down syndrome is a disorder that has negative health inclinations because it causes mental and physical challenges for patients.

What are the symptoms of Down syndrome?

Symptoms of Down Syndrome

The medical condition has various symptoms. The major syndromes are difficulties in breathing, problematic speech development, and impaired cognition. More so, patients exhibit physical abnormalities such as large gaps between their toes, slanted and almond-shaped eyes, and small chins (Hegazy & Baraka, 2021). Other common features include a flattened face, short neck and ears, a tongue that tends to stick out of the mouth, small feet and hands, white spots on the iris, palmar creases, fingers that curve towards the thumb, loose joints, and reduced height (Centers for Disease Control and Prevention, 2022). The organization further notes that individuals with Down syndrome report low intelligence quotient measures and are less interactive because of slow speech. Other significant diagnostic signs include increased risks of obesity, abnormal functioning of the thyroid metabolism, intestinal malabsorption, and an increase in the frequency of infections; these symptoms emanate from the reduction in the body’s immune functions (Marianne Belleza, 2021). They are significant in assessing and diagnosing the condition for effective management practices.

Assessment and Diagnosis

The assessment and diagnosis of Down syndrome vary. Common methods that medical practitioners employ in the processes include prenatal screening, diagnostic testing, laboratory studies of the bone marrow, fluorescence in situ hybridization (FISH), nuchal translucency (NT) scan, and amniocentesis(Marianne Belleza, 2021). The methods above contribute significantly to proper screening.

Treatment

The condition has no treatment. However, proper management strategies to curb the infection include:

Speech training and management
Occupational therapy
Physical therapy
Unique schooling programs for extra help/attention

Individuals who get help early enough can realize their potential and cultivate their talents, thereby improving their lives.

Nursing Intervention Strategies for Down Syndrome

Marianne Belleza (2021) details ideal nursing interventions, citing the following.

Provision of adequate and balanced nutrition for patients
Frequent visits and consultations to check on patients’ wellbeing
Imparting knowledge to parents on the importance of understanding the condition
Provision of emotional support to those who are infected and affected
In-depth assessment and diagnosis of the condition for the adoption of early management practices

Conclusion

Down syndrome is indeed a condition that has had adverse effects on individuals’ health since childhood. Studies have stipulated that the prevalence is significant, considering that 1 in approximately 700 individuals that are born have the disorder. Nurses play a fundamental role in managing the condition, considering it has no cure.