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Introduction

Down syndrome is a chromosomal condition characterized by the presence of an extra 21st chromosome. This syndrome involves some level of cognitive impairment and impaired physical growth as well. People with Down syndrome have characteristic body and face features and their cognitive abilities often range from mild to moderate disability. However, only a small number of these individuals have severe intellectual disability.

Down syndrome usually implies certain characteristic health concerns. Those include certain heart problems, GERD, sleep apnea, susceptibility to ear infections, thyroid disorders and gastrointestinal problems.

As for the gastrointestinal problems, the most common ones are acid reflux, celiac disease and bowel problems, including constipation.

Down syndrome and bowel problems

Constipation is commonly observed in children with Down syndrome, mostly because of two factors - low muscle tone and reduced motor activity. These factors cause the stool to remain in the colon for longer, the colon absorbs water and the stool becomes hard and difficult to pass.

In children with Down syndrome constipation can become a serious problem because, if chronic, it can lead to anal fissures, impaction or stretching of the rectum.

The treatment for this problem is the same as constipation treatment in everyone else - increasing fiber intake, mostly through fresh fruit and vegetables. Fiber can also be introduced through supplements, such as Metamucil. Stool softeners can be given to constipated babies to ease the passage of stool. Some of the stool softeners include corn syrup, malt barley extract and lactulose, which can also be used by adults.

Hirschsprung disease and Down syndrome

Children with Down syndrome have an increased risk of a disease called Hirschsprung. In this disease, the part of the colon just before the rectum does not contain nerve endings, which makes it impossible to push to stool through the rectum. The bowel movement occurs only when the stool collects to the point when the back part pushes the front.

The diagnose for Hirschsprung is made through an exam with barium enema and if that exam shows the possibility of Hirschsprung, a rectal biopsy is made. The treatment for this disease consists of surgical removal of the abnormal part of the colon and attachment of good colon to the rectum. This solves the problem of constipation but also often causes problems like chronic diarrhea and malabsorption.

Constipation is also one of the signs of hypothyroidism, another condition commonly seen in children with Down syndrome. It is generally recommended that all persons with Down syndrome have regular blood tests and screenings every couple of years, because other signs of hypothyroidism may be hidden.

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