Down syndrome, also known as trisomy 21, is a genetic condition. It’s characterized by an extra copy of chromosome 21, resulting in 47 chromosomes instead of the typical 46. This additional genetic material leads to  physical, cognitive, and developmental differences.

Though this condition brings unique challenges, people with Down syndrome have a vast range of abilities and talents and are far more similar to the general population than they are different.

Prevalence

Down syndrome can affect anyone, and it’s not caused by actions or decisions made by parents before or during pregnancy. 

In the United States, Down syndrome is the most common chromosome-related condition; approximately 6,000 babies are born with it each year. This equates to roughly 1 in every 700 births.

There are currently around 200,000 people with Down syndrome in the US.

Types of Down Syndrome 

While the characteristic Down syndrome features might seem universal, there are three distinct types of Down syndrome. These variations depend on how the extra chromosome 21 appears and can influence the way Down syndrome plays out in a person’s life.

Trisomy 21 (nondisjunction): Around 95% of people with Down syndrome have  trisomy 21. This is the result of an individual having three copies of chromosome 21 in each cell instead of  two. 

Translocation Down syndrome: For about 3% to 4% of people with Down syndrome, a part of chromosome 21 detaches and attaches to a different chromosome causing translocation Down syndrome or Robertsonian translocation Down syndrome. Even though the total chromosome count remains 46, this additional portion of chromosome 21 causes Down syndrome. Translocation doesn’t result in more pronounced or milder symptoms than trisomy 21. 

Mosaic Down syndrome: This is the rarest type, constituting 1% to 2% of Down syndrome cases. In people with Mosaicism,  some cells have the extra chromosome 21 and others not. Due to this variation, Mosaic Down syndrome symptoms are different from other types of Down syndrome. People with Mosaic Down syndrome might show fewer Down syndrome features. 

All people with Down syndrome have certain shared traits, but the specific type of Down syndrome does affect the range and degree of symptoms. With an early diagnosis and the right interventions, all people with Downs Syndrome can thrive and reach their full potential.

Symptoms

There are a number of characteristics typically associated with Down syndrome. They’re listed below. However, as you go through the list,  remember that these traits are just facets of your child’s unique personality and that each person, with Down syndrome or without, has a beautiful combination of talents, traits, and interests unique to them. 

“Sometimes we need to forget that our child has Down syndrome,” says Mrs. Surie Morgenstern, director of Pillar Support, “and simply embrace him as the adorable baby he is.

“Obviously, it’s good to be aware of what’s typical for children with Down syndrome and to know what to expect, but if we hyperfocus on our child’s limitations, we may lose out on simply enjoying him. 

“Make the necessary appointments, do medical follow-up, and get set up for early intervention. But never forget that your child is a delicious baby. Cuddle him, kiss him, love him.”

Physical characteristics are typically present at birth. Here are possible symptoms:

• a flattened face, particularly the nose
• slanted eyes
• short neck
• small ears, hands, and feet
• weak muscle tone at birth
• pinky finger that points inward
• single crease in palm (palmar crease)
• shorter stature than average

Additional symptoms that may impact the child over time:

• congenital heart disease
• vision problems
• increased susceptibility to infections
• breathing issues, including sleep apnea and asthma
• thyroid disease

Cognitive symptoms 

Every day, children with Down syndrome achieve remarkable and everyday milestones. They harbor dreams and aspirations for their future alongside a steadfast determination to achieve their objectives.

Alongside that, children with Down syndrome may face cognitive development challenges. 

This can result in intellectual and developmental disabilities, affecting areas such as gross and fine motor skills, language development, cognitive skills, and social and emotional skills. Achieving developmental milestones such as toilet training, speaking their first words, taking their first steps, and eating independently may take longer.

When it comes to learning, kids with Down syndrome demonstrate strength in certain areas:

• inclination toward visual learning
• strong capacity for empathy and social comprehension
• exceptional visual short-term memory
• age-appropriate mastery of daily living skills
• ability to follow structure and routine

It is also typical for kids with Down syndrome to struggle in certain areas:

• speech and language development delays
• hearing and vision weaknesses
• impaired fine motor skills attributed to low muscle tone
• mild to moderate cognitive impairments
• short attention span and susceptibility to distraction
• difficulty with consolidation and retention

Emotional and behavioral symptoms:

Children with Down syndrome may have challenges with attention, stubbornness, tantrums, and sometimes obsessive or compulsive behaviors. These could stem from them having a more difficult time communicating or expressing their needs.

They may also experience anxiety, depression, and obsessive-compulsive disorder (OCD).

Treatment

While Down syndrome doesn’t have a definitive cure, there are many treatments and interventions  that have proven  to improve quality of life and maximize a child’s potential:

• Tailored therapies: Physical, occupational, and speech therapies can significantly improve various skills.
• Education: Specialized programs crafted to meet individual requirements can help them flourish academically and socially.
• Medical interventions: Addressing health challenges with interventions like corrective glasses or hearing aids can enhance quality of life and daily functioning.
• Holistic care teams: These might comprise primary health care providers, specialized medical experts, therapists, and more, working in unison to provide comprehensive care.

By harnessing these resources, children with Down syndrome can make remarkable progress. See our article on Early Intervention for Children with Down syndrome for more details.

As individuals with Down syndrome grow into adulthood, the emphasis of support transitions from developmental therapies to giving them the tools and skills to live as independently as possible. 

Living with Down syndrome

With the proper care and support, people with Down syndrome can lead fulfilling, healthy, and joy-filled lives. They can achieve educational milestones, form meaningful relationships, and even have successful careers. 

“Too often we think that children with special needs require an entirely different approach from our other children,” says Mrs. Surie Morgenstern. “However, there is no reason to believe that they can’t accomplish most, if not all, of what their siblings can accomplish. 

“For example, if you expect your young children to put clothing in the hamper, you can guide your child with Down syndrome to do the same. It may take six weeks to train him instead of six days, but it can be done, and you’ll be doing him – and the rest of the family – a favor.” 

It’s pivotal for parents, caregivers, and society at large to focus on these children’s abilities and strengths.

Numerous resources and support groups provide guidance to families and individuals with Down syndrome. Joining such a group can offer insights, allow the members to share their experiences, and help discover ways to best support those living with Down syndrome

Modern medical advancements and holistic care have enabled many with Down syndrome to lead fulfilling lives. In fact, life expectancy of people with Down syndrome stretches to 60 years and beyond.

Research has shown — and as many living with a child with Down syndrome can attest — that  children with Down syndrome are naturally joyous. They often bring an infectious smile, outgoing nature, and overwhelmingly positive cheerfulness to the people around them.

Parenting a child with Down syndrome might have its challenges, but it is also imbued with profound joy and unique experiences, making it deeply rewarding.