Gastrointestinal disorders in Down syndrome

John Langdon Down, an English physician, first described Down syndrome in 1866 but it was not until 1959 that Dr Jerome Lejeune from Paris showed an association with chromosome 21. Down syndrome is the most common chromosomal abnormality occurring in humans and is caused by the presence of all or part of a third copy of chromosome 21. Recent exciting research has shown that trisomy silencing may offer new treatment possibilities (1). Down syndrome presents with typical physical features particularly of the face, and varying degrees of hypotonia and intellectual disability (2). Most children are born to mothers under the age of 35 years but the incidence of Down syndrome increases with maternal age. The condition is encountered worldwide with an incidence of 1 in 650-1000 live births (3). It is associated with a number of conditions including heart and spinal defects, endocrine disorders particularly a high frequency of Hashimoto's thyroiditis and to a lesser extent Graves disease (4), and respiratory and eye problems. In recent years with more enlightened attitudes to disability, the development of surgical techniques to correct defects and improved general care, the survival of infants and life expectancy for Down syndrome have risen dramatically. About sixty years ago in Birmingham, England only 45% of infants survived the first year and only 40% were alive at 5 years (5). Fifty years later in a study also from England, 78% of infants with Down syndrome and a congenital heart defect survived for 1 year and 96% of those without anomalies (6). An Australian report showed that life expectancy has risen dramatically through the years and by the end of 2002 the median was 60 years (3, 7). It is likely that this increase in survival will continue. With proper management particularly in dedicated clinics (8) those with Down syndrome can go on to lead fulfilled, productive lives with some moving into higher education and employment. This brief review is concerned only with gastrointestinal associations. Children and adults with Down syndrome will exhibit gastrointestinal symptoms from time to time such as vomiting, diarrhoea, constipation, abdominal pain and discomfort that resolve with minimal or no intervention much as in others. However, they may develop structural and functional disorders of the gastrointestinal tract and related structures more commonly. Estimates of how commonly these occur have often been derived from selected populations such as those attending special clinics for Down syndrome when …