What is the pathophysiology of Down syndrome?

 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.


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

  1. Speech training and management
  2. Occupational therapy
  3. Physical therapy
  4. 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.

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


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.

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