Down syndrome is a condition in which a child is born with an extra chromosome. Chromosomes are like ‘gene packages’ that determine how a baby’s body forms during pregnancy and how its body grows after birth.

Typically, a baby is born with 23 pairs (46 in all) of chromosomes. However, a child with Down syndrome has an extra copy of the chromosome number 21 (making it 47), which is medically referred to as ‘Trisomy 21’. This alters the baby’s body and brain development and can cause both physical and mental challenges for the baby.

Risk Factors & Causes Of Down Syndrome
While researchers know that Down syndrome is caused by an extra chromosome, no one knows the exact reason behind it, and how many different factors could play a role in determining the risk.

A known risk factor is the mother’s age. Women who are 35 years or older, when they become pregnant, are more likely to have a pregnancy affected by Down syndrome than younger women.[1-5]

Health Problems In Children With Down Syndrome
Most children with Down syndrome have similar facial features and declined mental capability but no other major birth defect. However, some children may have one or more of the following problems since birth.[6]

  • Ear infections (between 50 and 70 percent)
  • Eye problems (up to 60 percent) such as cataracts and vision problems that require glasses.
  • Heart defects (50 percent)
  • Loss of hearing (up to 75 percent of people with Down syndrome may be affected)
  • Obstructive sleep apnea, a condition in which a person’s breathing stops temporarily while asleep (between 50 and 75 percent).

Less Common Health Problems In Children With Down Syndrome

  • Hip dislocation
  • Thyroid disease
  • Intestinal blockage at birth requiring surgery
  • Anemia
  • Leukemia in infancy or early childhood
  • Hirschsprung disease (a disease present from birth that causes a blockage of the large intestine. It occurs due to poor muscle movement in the bowel).

Healthcare providers monitor children with Down syndrome for these conditions. If they are diagnosed on time, the right treatment can be provided.

Living With Down Syndrome
Down syndrome is a lifelong condition. Speech, occupational and physical therapy are some early interventional programs that can help children with Down syndrome reach their full potential.

Children with Down syndrome may also need extra attention or help in school. Families can help their loved one by connecting with other families who have children with Down syndrome. This can help both families gain insight into the problems they face and overcome difference while caring for their child.

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1. Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.

2. Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.

3. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.

4. Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.

5. Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.

6. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.