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Caring for a Child With Down Syndrome

Contributor Brian Skotko, MD, MPP
8 minute read
A baby boy with Down syndrome

Down syndrome is among the most common genetic conditions in the world. More than 217,000 people in the United States have the condition, and about 5,100 babies in the U.S. alone are born with it each year.

Parents naturally may have lots of questions about the condition and wonder if their children may face future health and development challenges. Brian Skotko, MD, MPP, a Mass General for Children medical geneticist, assures parents and family members that people with Down syndrome can thrive. In fact, they lead fulfilling lives and bring joy to their friends and family.

“There has never been a better moment than now to be born with Down syndrome,” says Dr. Skotko. “While the science hasn’t changed and the genetics haven’t changed, we as a society have changed and continue to change to accept, include, and value people with Down syndrome.”

Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Mass General for Children. He’s part of a multidisciplinary team that cares for patients in the Down Syndrome Program. Dr. Skotko explains what causes Down syndrome and how parents and caregivers can best prepare for, and support, a child with Down syndrome.

How many chromosomes do people with Down syndrome have?

The human genome consists of 23 pairs of chromosomes. In Trisomy 21, the 21st pair has 3 chromosomes instead of 2.

Every person possesses their own unique instruction manual. Their manual determines how they look, act, and live their life. Referred to as genes, these manuals exist in every cell.

Thousands of genes fold into neat packages, called chromosomes. There are typically 46 chromosomes in every cell. Each form a pair — 23 in total. Doctors number pairs 1, 2, 3, and so forth.

Down syndrome occurs when cells have an extra copy of the 21st chromosome. So, instead of 46 chromosomes, people with Down syndrome usually have 47.

What causes Down syndrome?

An extra chromosome can develop before, during, or after conception. Three genetic types of Down syndrome exist. Where and how the extra chromosome appears determines the type:

  1. Trisomy 21: There is an extra 21st chromosome, forming a trio. The trio appears in every cell. According to the Centers for Disease Control and Prevention (CDC), about 95% of people with Down syndrome have Trisomy 21. 

  2. Translocation Down syndrome: The extra copy of the 21st chromosome attaches itself to another chromosome, such as chromosome 13, 14, or 15. This form of Down syndrome can also be inherited. Parents can carry the genetic precursor for this type of Down syndrome and can pass it down to their child, who might then develop the condition. About 3% of people with Down syndrome have translocation. Like Trisomy 21, the extra copy appears in every cell. 

  3. Mosaic Down syndrome: Some cells, but not all, have the extra chromosome. About 2% of people with Down syndrome have mosaic cases.

How is Down syndrome diagnosed?

Parents may choose Down syndrome screening or testing during pregnancy. Such testing is a personal decision and optional.

Babies can also be diagnosed with a blood test after birth, too.

Screening blood test

According to the American College of Obstetricians and Gynecologists (ACOG), doctors can screen for the likelihood of a child having Down syndrome during pregnancy. From the results of their screenings, a pregnant person may choose to undergo another round of tests to confirm a diagnosis.

  • First and second-trimester screenings: Between weeks 10 and 13 of pregnancy, or weeks 15 and 22 of pregnancy, parents can opt for a blood test to estimate the chances of their child having Down syndrome.
  • Combined first- and second-trimester screening: Combining the results of these blood tests offers a more accurate prediction. 
  • Cell-free DNA testing: The placenta, a connective tissue linking a parent to their developing child, releases small amounts of DNA into the bloodstream of a pregnant parent. Starting at week 10 of pregnancy, doctors can extract a sample of this DNA — called cell-free DNA — and assess its makeup.

Signs of Down syndrome during pregnancy ultrasound

Prior to testing, doctors can also screen for Down syndrome using an ultrasound. The test uses high-frequency sound waves to create images of the unborn child during the first and second trimesters of pregnancy. 

Fluid behind the neck of the child can sometimes signal the condition and patients may choose to proceed with testing. An ultrasound can also assess for heart conditions.

Diagnostic tests: Amniocentesis (amnio), chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS)

Screening is not perfect. Sometimes, a screening test falsely predicts a diagnosis. A diagnostic test can help confirm or clarify the results of a screening.

During diagnostic tests, a doctor analyzes a genetic sample from a person who is pregnant. They can extract cells from amniotic fluid (amniocentesis), the placenta (chorionic villus sampling), or blood from the umbilical cord (percutaneous umbilical blood sampling). 

Characteristics of Down syndrome

Down syndrome was named after John Langdon Down, a British doctor first credited for describing the unique characteristics of those with the condition. While the condition generally occurs equally across different races and ethnic groups, it occurs slightly more in males than females.

Signs of Down syndrome in babies

Newborns with Down syndrome typically present physical characteristics of the condition at birth. They include:

  • Low set ears
  • Short fingers
  • Wide gaps between first and second toes
  • Indented nasal bridge
  • Upward slanting eyes

The characteristics of trisomy 21 and translocation Down syndrome are identical. Those with mosaic Down syndrome may express some, but not all, of these characteristics.

“It's important to note that these are just characteristics,” says Dr. Skotko. “These in and of themselves are not medical problems, but they're some of the features that allow us to distinguish whether or not someone might be born with Down syndrome.”

Treating Down syndrome

A cure for Down syndrome does not exist. Guidelines for treating co-occurring conditions, however, do.

Common health conditions in children with Down syndrome

People with Down syndrome typically experience several other health conditions. The most common include:

  • Heart conditions and blood disease: The National Institutes of Health (NIH) report that nearly half of newborns with Down syndrome also have congenital heart disease, which sometimes leads to high blood pressure in the lungs.
  • Low muscle tone: Children with Down syndrome will take time to roll over, sit up, crawl, or walk. Low muscle tone can make regular feeding and chestfeeding more difficult than usual and lead to constipation.
  • Intellectual disability and mental health: People with Down syndrome are lifelong learners. They just need specific resources and support to guide their learning. Many children with the condition also experience behavioral and mental health conditions. A few examples include anxiety, depression, autism, and attention-deficit/hyperactivity disorder (ADHD).
  • Poor vision and hearing: Eye exams help determine whether a patient needs glasses; a hearing exam can determine the need for a hearing aid.
  • Digestive and dental problems: Children with Down syndrome may experience challenges digesting certain ingredients in food. They are more likely than other children to develop Celiac disease, which makes it difficult to eat gluten, a common ingredient found in wheat, barley, and rye. Gum disease and slow-growing teeth are also more common in these children.
  • Infections: Children with Down syndrome can have decreased defenses in their immune systems. These problems may make it harder for them to fight some infections, such as respiratory syncytial virus (RSV). Vaccinations remain important for all children, especially those with Down syndrome.
  • Sleep apnea: Sleep apnea occurs when sufficient oxygen is blocked during sleep. People with Down syndrome can have larger structures, like tonsils and adenoids, at the back of their throat. During sleep, these structures tend to block the airway. Snoring is a common sleep apnea symptom, and a sleep study can confirm a diagnosis.
  • Thyroid disease: Many children with Down syndrome produce too little thyroid hormone, a condition called hypothyroidism. Medications can help correct hormone levels.
  • Infantile spasms: Prompt recognition is important so that doctors can initiate medication to stop the seizures.
We’re aiming to democratize health care so everyone with Down syndrome can access the best, most up-to-date care that exists. We’re coming to you, so you don’t have to come to us.

Brian Skotko, MD, MPP

Medical Geneticist

Mass General for Children

Down Syndrome Clinic

Down Syndrome Clinic to You (DSC2U) helps caregivers and primary care physicians anticipate and learn about health conditions in people with Down syndrome of all ages. DSC2U is a virtual platform where caretakers can respond to a series of targeted questions and receive automated answers and customized recommendations. The clinic provides checklists, which allow caregivers to share recommendations with their loved one’s primary care provider (PCP).

Dr. Skotko recommends people with Down syndrome work closely with their doctors to ensure they stay up to date on recommendations.

“We’re aiming to democratize health care so everyone with Down syndrome can access the best, most up-to-date care that exists,” says Dr. Skotko. “We’re coming to you, so you don’t have to come to us.”

What is the current life expectancy of someone with Down syndrome in the United States?

The average lifespan of someone with Down syndrome is close to 60. Thanks to advances in medicine and technology, Dr. Skotko thinks the best has yet to come for individuals with the condition.

“I would expect life expectancy to continue to expand,” says Dr. Skotko. “Research is continuing to uncover new answers to the mysteries that we still have for people with Down syndrome.”

Research breakthroughs in Down syndrome

One promising breakthrough is a surgically implanted device often referred to as a “pacemaker for the tongue.” The device has been shown to drastically improve the sleep apnea symptoms of adolescents and adults with Down syndrome.

The Down Syndrome Research Program at Massachusetts General Hospital collaborates with researchers worldwide to better understand the condition. The center offers families opportunities to participate in an array of studies, many of which have explored:

  • Improvement of language, memory, and attention among adults

  • Drugs for depression

  • Quality-of-life measurements

  • Nutrition and weight management

What is it like to be a parent of someone with Down syndrome?

Shock and anger are normal emotions felt by parents after first receiving a Down syndrome diagnosis. That said, Dr. Skotko says 99% of these parents go on to love their child.

“Believing in their child leads to incredible promise and expectations,” he adds.

Parents say the fun in raising a child with Down syndrome begins when they step aside, follow their child’s lead, and replace limitations with expectations. 

What is it like to be a sibling of someone with Down syndrome?

Dr. Skotko is proud to have a sister with Down syndrome. He and his colleagues have also surveyed brothers and sisters who have siblings with Down syndrome. According to his research, 88% of brothers and sisters say they are better people because they have a loved one with Down syndrome. Moreover, 90% say they plan to remain involved in their sibling’s lives when they reach adulthood.

“Yes, having a sibling with the condition is going to trigger plenty of aggravating moments,” he says. “And, yes, sometimes you’re angry. But the overall positive emotions and moments far outweigh the negative.”

People with Down syndrome teach their brothers and sisters all sorts of life lessons, Dr. Skotko says. For example, his sister inspired him to study medicine. He says she continually shapes the man he is today.

What does it mean to live with Down syndrome today?

Medicine has advanced to address and prevent many of the medical conditions associated with Down syndrome. Unlike decades ago, people with Down syndrome now have access to a variety of living arrangements for when they age into adulthood.

Many go on to achieve the same things as peers who do not have the condition. A few of those accomplishments include:

  • Graduating from high school or college

  • Working a full-time job

  • Sustaining life-long relationships and friendships

Unfortunately, teasing may occur from those who don’t understand the condition. Dr. Skotko says such harassment only demonstrates the need for diversity and disability awareness training in schools.

And, if anything, it’s their loss. He says people with Down syndrome teach others just as much, if not more, than they learn from others.

“Study after study shows that having a classmate with a difference like Down syndrome actually makes you a smarter and better classmate,” he adds. “If you haven’t met someone with Down syndrome, now is the time to do so.”

Explore resources for parents of children with Down Syndrome (opens external link in new tab)

Contributor

Brian Skotko, MD, MPP
Medical Geneticist