Down syndrome

Down Syndrome



  • Down syndrome, also known as trisomy 21, is a genetic disorder which is caused by defects in the chromosome 21. It is typically associated with physical and mental health delays. IQ of an individual with this disease is equivalent to an 8-9 years old child.

Epidemiology and burden of Down Syndrome

  • Incidence of Down syndrome is between 1 in 1,000 live births worldwide. Every year approximately 3,000 to 5,000 children are born with this disorder. (
  • Every year between 23,000 and 29,000 children are born in India with Down syndrome, which is the highest in the world. (
  • Down syndrome continues to be the most common chromosomal disorder. Older mothers are more likely to have a baby affected by Down syndrome than younger mothers. (

Treatment for Down Syndrome

  • The study concluded that recombinant human growth hormone therapy can result in a significant increase in annual growth rate and head circumference in children with Down syndrome, without significant side effects (J Pediatr.1991 Sep;119(3):478-83).
  • Medications for treatment of Alzheimer’s disease may also result in benefit for the population of individuals with Down syndrome. (Ment Retard Dev Disabil Res Rev.2005;11(2):149-55)
  • Results from one pilot study suggest that participants who received simvastatin may have shown a slight improvement in cognitive measures. (Cochrane Database Syst Rev.2015 Oct 29;(10):CD011546)
  • The results have shown that sensory integration, vestibular stimulation and neurodevelopmental therapy are effective in children with Down syndrome (Pediatr Int.2003 Feb;45(1):68-73).
  • Study results demonstrate that the antioxidant intervention with vitamins E and C attenuate the systemic oxidative damage present in DS patients. (Res Dev Disabil.2014 Jun;35(6):1228-36)

Complications of Down Syndrome

  • The study demonstrated that there is a greater prevalence of obesity amongst women with Down syndrome but not men. (J Intellect Disabil Res.2005 Feb;49(Pt 2):125-33)
  • A case-control study showed that Down syndrome patients display more severe periodontal destruction earlier (inflammation of the tissues that surround and support the teeth), and heavier colonization with periodontal pathogens. (J Clin Periodontol.2005 Jun;32(6):684-90)
  • The study found that there is a six fold increased risk of celiac disease (CD, Celiac disease is a genetic autoimmune disorder where the ingestion of gluten leads to damage in the small intestine) in individuals with DS. (J Pediatr.2013 Jul;163(1):237-42)
  • This cohort study showed that mothers of Down syndrome children are at 23% increased risk to develop breast cancer (95% CI = 4%-46%). (2009 Jul;20(4):584-9)

Risk factors for Down Syndrome

  • Meta-analysis suggests an association of the MTHFR C677T polymorphism with maternal risk for Down syndrome (DS). Moreover, no association between the MTHFR A1298C polymorphism and maternal risk for DS was found. (Mol Biol Rep.2014 Aug;41(8):5491-504)
  • A study showed that intracardiac echogenic foci (a small bright spot seen in the baby’s heart on an ultrasound exam) increase the risk of Down syndrome five- to seven-fold. (Obstet Gynecol.2003 May;101(5 Pt 1):1009-16)
  • Aberrant right subclavian artery (ARSA) appears to be a clinically useful prenatal ultrasound marker of Down syndrome. (Ultrasound Obstet Gynecol.2015 Sep;46(3):266-76)
  • A study showed the estimated odds ratio for a Down syndrome pregnancy associated with a 10-year increase in paternal age was 1.13, 95%CI (0.85, 1.52). (Am J Med Genet A.2009 Jun;149A(6):1205-8)

Systematic reviews

  • Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis…more
  • Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis…more
  • Folate Metabolism and Genetic Variant in Down Syndrome: A Meta-Analysis…more
  • Dental caries in individuals with Down syndrome: a systematic review…more
  • Alzheimer’s Disease in Down Syndrome-meta-analysis…more

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