What is the prognosis of Down syndrome?

Updated: May 18, 2020
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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The overall outlook for individuals with Down syndrome has dramatically improved. Many adult patients are healthier and better integrated into society, and life expectancy has improved from 25 years in 1983 to 60 years or higher today.

Approximately 75% of concepti with trisomy 21 die in embryonic or fetal life. Approximately 25-30% of patients with Down syndrome die during the first year of life. The most frequent causes of death are respiratory infections (bronchopneumonia) and congenital heart disease. The median age at death is in the mid-50s.

Congenital heart disease is the major cause of morbidity and early mortality in patients with Down syndrome. In addition, esophageal atresia with or without transesophageal (TE) fistula, Hirschsprung disease, duodenal atresia, and leukemia contribute to mortality. The high mortality later in life may be the result of premature aging.

In elderly persons with Down syndrome, relative preservation of cognitive and functional ability is associated with better survival. [17] Clinically, the most important disorders related to mortality in this population are dementia, mobility restrictions, visual impairment, and epilepsy (but not cardiovascular disease). In addition, the level of intellectual disability and institutionalization are associated with mortality.

Individuals with Down syndrome have a greatly increased morbidity, primarily because of infections involving impaired immune response. Large tonsils and adenoids, lingual tonsils, choanal stenosis, or glossoptosis can obstruct the upper airway. Airway obstruction can cause serous otitis media, alveolar hypoventilation, arterial hypoxemia, cerebral hypoxia, and pulmonary arterial hypertension with resulting cor pulmonale and heart failure.

Leukemia, thyroid diseases, autoimmune disorders, epilepsy, intestinal obstruction, and increased susceptibility to infections (including recurrent respiratory infections) are commonly associated with Down syndrome.

The aging process seems to be accelerated in patients with Down syndrome. Many patients develop progressive Alzheimer-like dementia by age 40 years, and 75% of patients have signs and symptoms of Alzheimer disease. [18]

A delay in recognizing atlantoaxial and atlanto-occipital instability may result in irreversible spinal-cord damage. Visual and hearing impairments in addition to intellectual disability may further limit the child’s overall function and may prevent him or her from participating in important learning processes and developing appropriate language and interpersonal skills. Unrecognized thyroid dysfunction may further compromise central nervous system (CNS) function.

A questionnaire study by Matthews et al of caregivers of persons with Down syndrome aged 20 years or older reported that, while adults with Down syndrome who had a greater amount of health issues tended not to be independent and social and although current health problems impacted communication skills in these individuals, the number of congenital abnormalities in adults with Down syndrome was not significantly associated with scores for independence/life skills. [19]

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