Down syndrome

Also referred to as Trisomy 21, Down Syndrome is a genetic condition in which there is the presence of all or part of an extra 21st chromosome. Causing lifelong developmental issues and mental retardation, Down Syndrome is also characterized by specific physical features such as a flat face or a shortened neck. The degree of intellectual disability varies from person to person but in the majority of cases, the symptoms are mild to moderate. Down Syndrome affects an average of every 800-1000 births and is much more common in older mothers. The disorder can be detected through testing during pregnancy (amniocentesis) or at birth. Although genetic mutations are irreversible, there are a number of early childhood interventions, education and therapy that can be administered to improve the individual’s quality of life.


There are a number of symptoms that affect an individual with Down Syndrome. The following physical traits are commonly seen in people with Down Syndrome:

  • An unusually round face
  • Small head
  • Almond shaped eyes
  • Upward slanting eyes
  • Unusually shaped ears
  • Shorter limbs
  • Poor muscle tone
  • Excessive flexibility
  • Broad, short hands with one vs. two creases on the palms
  • Sleep Apnea
  • Recurrent ear infections
  • Upslanting separation between upper and lower eyelids
  • An abnormally small chin
  • Short neck
  • Protruding tongue
  • In males, inability to father children
  • In females, low rates of conception

Other common traits affect cognitive development:

  • Difficulty understanding speech
  • Difficulty expressing speech
  • Delay in learning fine and gross motor skills
  • Issues developing social/emotionally


The genetic mutation that causes Down Syndrome is an issue regarding abnormal cell division in the early stages of fetal development. It is believed by health professionals that the reason the cell doesn’t divide properly is an issue with the egg prior to being fertilized. This abnormal cell division occurs in the 21st chromosome (hence the name, Trisomy 21). More than 90 percent of cases of Down Syndrome is caused by an issue with the 21st chromosome. In normal cell division, the 21st chromosome divides equally in half. In cases of Down Syndrome, this chromosome divides into three parts.


If there is a family history of Down Syndrome, you may want to consider undergoing genetic testing prior to getting pregnant. This testing will determine if you and your partner are at risk for conceiving a child who may develop Down Syndrome. Blood tests and fetal ultrasounds during the first and second trimesters can help determine whether or not the child has certain traits that are common among babies with Down Syndrome. However, the only way to be certain if your child suffers from this disorder is to undergo amniocentesis, a type of testing in which the fluid from the amniotic sac is tested for genetic abnormalities. A karotype test is another form of genetic testing that is effective in determining if the fetus has the disorder.


Unfortunately, there are no cures for disorders that are caused by a genetic abnormality. A newborn with Down Syndrome will have to undergo many tests and checkups and tests during the first month to monitor the condition and ensure that other diseases and health problems associated with Down Syndrome do not begin to develop. After the first month is past, routine checkups are necessary to continue to make sure the baby is developing at the average rate for a child with Down Syndrome. As the child grows, physical therapy to help with the development of motor skills may be necessary as these children develop these skills at a much slower rate. Once the child is in school, special attention will need to be paid to ensure they are developing cognitively and intellectually. As the child goes through puberty and into adulthood, special attention and guidance will be necessary to ensure he/she develops skills needed to survive in the world such as self-feeding, grooming, dressing and communicating. There are a number of therapies (individual and group) that help the individual develop and practice these skills to ensure they are able to be a part of the community.