October is Down Syndrome Awareness Month


down syndromeDown syndrome is a genetic condition that occurs due to having a full or partial extra copy of chromosome 21. Typically, people have one pair, or two copies, of each chromosome. Most individuals with Down syndrome have three full copies of chromosome 21, also known as trisomy 21. This extra chromosomal material affects how the body and brain are developed and causes the characteristics associated with Down syndrome. Down syndrome is the most common genetic cause of intellectual disability. According to the Centers for Disease Control and Prevention (CDC), Down syndrome occurs in approximately 1 out of every 700 live births. Some common physical characteristics include low muscle tone and loose joints, short stature and neck, flattened face (especially bridge of the nose), almond shaped upward slanted eyes, and a deep crease across the center of the palm. It is important to know that each person with Down syndrome is unique and may not have all of the common physical characteristics.

People with Down syndrome are more likely to have certain physical health conditions and complications. These can include congenital heart defects (which may require surgery in early infancy), gastroesophageal reflux disease (GERD), constipation, obesity, hypothyroidism, obstructive sleep apnea, hearing and vision problems, musculoskeletal conditions, immune disorders, blood disorders, spinal problems, and dementia.  It is very important for people with Down syndrome to receive regular medical care and monitoring for these conditions. For example, since people with Down syndrome are more likely to have sleep apnea, an evaluation for this condition should occur to determine if further testing such as a sleep study is recommended. People with Down syndrome are also more likely to have certain mental health concerns such as depression and anxiety. It is important for caregivers to be aware of this and report any symptoms to the primary care physician (PCP) so further evaluation can occur if needed. Please refer to this link to view the Health Watch Table for Down syndrome: https://www.dsrf.org/media/Down%20Syndrome%20HWT.pdf.  This includes considerations for each body system, the prevalence of related conditions in Down syndrome, and recommendations for health evaluations and testing to monitor for these conditions.

The PCHC Health Promotion Activity Plan (HPAP) for Down syndrome is an easy way to plan supports for someone with this condition. The plan can be personalized to an individual’s needs. It can be found at: https://www.dsrf.org/media/Down%20Syndrome%20HWT.pdf

PCHC offers an online training on the topic of Down syndrome available at https://www.pchc.org/images/Education/Online-Trainings/Provider-Staff/Down-Syndrome/index.htm

References and Resources

  • National Down Syndrome Society (NDSS) website: