Down Syndrome and Healthcare: Your Questions, Answered

Down syndrome (sometimes mistakenly written as “Down’s syndrome”) is a genetic condition that occurs when a child is born with an extra copy of chromosome 21. Also known as “trisomy 21,” Down syndrome is the most common chromosomal condition in the United States, occurring in about 1 of every 700 babies.

Down syndrome is caused by random errors in cell division when an egg or sperm is formed, which creates a third copy of chromosome 21 (instead of the usual 2 copies that those who do not have Down syndrome have). This error in cell division is known as “nondisjunction.”

Usually, when a cell splits into two, each pair of chromosomes is divided so that one chromosome goes into each new cell. In nondisjunction, there is a mistake, and both chromosomes from a pair go into one cell while the other cell gets none. 

Although Down syndrome is a genetic disorder, most cases are not inherited. The process is random and not hereditary—a parent's behavior and environment has no effect on whether their child will have Down syndrome or not.

Due to the complex nature of the condition, individuals with Down syndrome often experience other chronic health issues that need to be monitored and managed throughout their lives. These ongoing healthcare needs may include concerns about: 

• Hearing and speech 
• Sleep apnea and other sleep disorders 
• Acute illness 
• Vision issues 
• Dental concerns 
• Joint and muscle tone issues 
• Developmental milestones 
• Congenital heart disease 
• Thyroid concerns 
• Autoimmune disease 
• Nutrition and feeding concerns

A variety of specialists may be involved in the medical care of someone with Down syndrome throughout their life. At Gillette Children’s, our dedicated Down Syndrome Program is staffed by pediatricians and internal medicine specialists who are experts in caring for individuals with complex medical needs. With assistance from a registered nurse care coordinator, Gillette patients who have Down syndrome benefit from seamless, coordinated care across specialties such as:

• Acute care (via our Quick Care Clinic)
• Audiology
• Ear, nose, and throat (otolaryngology)
• Endocrinology
• Feeding therapy
• Inpatient hospitalization
• Neurology
• Neurosurgery
• Orthopedics
• Rehabilitation medicine
• Rehabilitation therapies
• Sleep medicine
• Speech-language therapy

In addition to the clinic dedicated to caring for patients with Down syndrome, patients who seek care at Gillette get access to board-certified pediatric and internal medicine experts across multiple specialties in a team-based environment. 

In addition, a dedicated registered nurse care manager helps families of patients with Down syndrome coordinate appointments across specialties. This ensures that patients with Down syndrome who may have other medical concerns can find patient-centered support and treatment every step of the way, with providers who work together to ensure the best possible outcomes. The Down Syndrome Clinic at Gillette Children’s helps with care navigation as well as the transition from pediatric to adult healthcare. 

Patients of Gillette Children’s Down Syndrome Program also enjoy access to our Quick Care Clinic for acute illness, and inpatient hospitalization as needed right at Gillette—which helps create continuity of their care. 

Additionally, Gillette is proud to partner with the Down Syndrome Association of Minnesota (DSAMn), with a DSAMn office embedded in our Down Syndrome Program clinic. DSAMn provides resources for individuals with Down syndrome and their caregivers who seek community support, advocacy opportunities, and events related to Down syndrome.