October is Down Syndrome Awareness Month

What medical concerns are common in Down syndrome?
‍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.  

How is Down syndrome diagnosed?
‍There are different types of tests that can determine the presence of Down syndrome in pregnancy. Screening tests can predict the chance of a fetus having Down syndrome; they do not provide a definitive diagnosis. Diagnostic tests performed during pregnancy can confirm a diagnosis of Down syndrome. When a baby is born with Down syndrome, it is usually identified at birth by the presence of some of the above-mentioned physical characteristics. Genetic testing can be performed to confirm a diagnosis.

Health Maintenance with Down Syndrome
‍Since Down syndrome is commonly associated with a variety of different health concerns, it is important that individuals with this syndrome are being monitored regularly by their healthcare providers. Additional health screenings and tests may be recommended to monitor for conditions that are common with this syndrome. One resource that can be helpful for a healthcare provider is the Health Watch Table for Down Syndrome.

Learn more about Down syndrome:    

What is Down syndrome?  
Down 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. 

What are symptoms of Down syndrome?
Down syndrome is associated with a wide spectrum of symptoms that can vary greatly from one individual to another. They can include:

PCHC has developed a Health Promotion Activity Plan (HPAP) on Down syndrome and more.

• Mild to moderate intellectual disability (ID) and/or learning difficulties
• Common physical features such as:

• A flattened face, especially the bridge of the nose    
• Small head and ears
• Short neck  
• Almond-shaped eyes that slant up
• Protruding tongue  
• Brushfield spots: tiny white spots on the iris (colored part) of the eye  
• Small hands and feet  
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb  
• Low muscle tone (excessive flexibility, loose joints)  
• Shorter in height as children and adult

• National Down Syndrome Association Website:
  https://www.ndss.org/about-down-syndrome/down-syndrome/
• Centers for Disease Control &Prevention (CDC)- Facts About Down Syndrome: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• Health Watch Table –Down Syndrome: http://ddprimarycare.surreyplace.ca/wp-content/uploads/2018/03/HWT_Down-Syndrome.pdf
• Medline Plus: https://medlineplus.gov/genetics/condition/down-syndrome/#resources
• NIH- Genetic and Rare DiseasesInformation Center (GARD): https://rarediseases.info.nih.gov/diseases/10247/down-syndrome