Everything You Need to Know About Down Syndrome: Overview, Signs and Symptoms, Causes, Diagnosis, and Treatment

Treatment

Treatment of Down syndrome should evaluate the potential of the patient to give direction in the intervention. Schooling and community placing are to be chosen accordingly.

There is currently no successful treatment to prevent intellectual disability in Down syndrome. However, it is still possible to improve their quality of life through medical care and interventions.

Immunizations are recommended precisely the same as in other children. They are even more important in Down syndrome due to their increased sensitivity to infectious diseases. Surgery is sometimes needed, and most of them aim at correcting cardiovascular problems. And even after the patient is found physically healthy and well, regular monitoring and screening are required to prevent new health conditions. In older adults, screening is also essential for early diagnosis of dementia, hypothyroidism, epilepsy, and other problems.

  • Surgery: Surgical care is usually done in early childhood or the newborn after detecting cardiac abnormalities. This type of treatment is required to prevent complications and increase the chance of survival. Besides cardiac abnormalities, gastrointestinal atresia, fistula, imperforate anus, pyloric stenosis, and other structural problems can also be corrected by surgical interventions. Other causes of surgery include congenital cataracts and atlantoaxial subluxation.
  • Dietary recommendations: The diet only changes in patients with celiac disease. They should have a gluten-free diet and fix their calorie intake to maintain a healthy weight.
  • Thyroid hormone: It is essential to detect hypothyroidism early and start treatment with thyroid hormone. Otherwise, thyroid hormone deficiency can speed up intellectual deterioration and worsen the quality of life.
  • Support therapy: Patients with Down syndrome can have several health problems throughout their lifetime. It is important to detect and treat emergent cardiac problems, probably with diuretics and digitalis, spasms and seizures with anticonvulsants or steroids, and restorative dental therapy in case of periodontal disease.
  • Psychotherapy: Behavioral therapy is important in Down syndrome, especially when there’s a psychiatric disorder. Psychologic support, group therapy, and other modalities may be used. In some cases, patients may need pharmacologic treatments.

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During adolescence, patients with Down syndrome require an annual audiological evaluation and an ophthalmologic evaluation every three years. They should be monitored regularly to detect and treat conditions as soon as possible. For instance:

  • Dermatologic issues such as fungal infections and folliculitis should be treated accordingly
  • When patients are starting to gain excess weight, and in cases of obesity, a caloric intake reduction should be recommended, as well as increasing physical activity levels.
  • Antibiotics, not only to treat infections but also as prophylaxis. For example, in dental procedures for patients with mitral valve prolapse.
  • Detecting and treating sleep apnea.
  • Language and speech therapy are often fundamental, especially in intelligible patients at a young age or those without an expressive language in adolescence.