Down syndrome is a common genetic disorder that is present from birth. It results in developmental delays that are caused by the presence of extra genetic material. It has an impact on both mental and physical development.
Each human cell contains 23 pairs of chromosomes; half of each pair comes from our mother and the other half comes from our father. Those with Down syndrome have an extra 21st chromosome. For this reason, Down syndrome is also referred to as Trisomy 21.
While the disorder can be detected before a child is born, it cannot be prevented. According to the World Health Organization, the genetic disorder occurs in approximately one in every 1,000 to one in every 1,100 live births worldwide. The distinguishing physical characteristics of Down syndrome include a flat face and short neck, as well as eyes that are slightly slanted. Mild to moderate learning disabilities and low muscle tone in infancy are also typically present.
Other health conditions can be associated with Down syndrome, including heart defects, leukemia, early onset of Alzheimer’s disease, and gastro-intestinal problems. Some of the medical problems linked to Down syndrome, like hearing problems or thyroid problems can be treated or corrected.
The positive news is that life expectancy for those with Down syndrome has increased greatly over the last few decades due to improved medical care.
The individual’s physical and intellectual needs, strengths and limitations determine the type of treatment provided. In most cases, care is provided by several health care professionals, including physicians, special educators, speech and occupational therapists, and physical therapists. A dietician may be consulted if a Down syndrome patient has digestive problems.
As with autism spectrum disorder, early intervention – when professional care is given from an early age – can lead to improved outcomes for children with Down syndrome. The intervention can begin shortly after birth.
Down syndrome is named after Dr. John Langdon Down, the English doctor who first categorized the common features of those who have the condition.