Down Syndrome: Tackling Misconceptions

What does it mean to grow up with Down syndrome? The answer can look very different from one child to another.

Some children face significant medical and developmental challenges, while others need less support as they grow. Their experiences with school, work, and relationships can vary just as widely.

"Down syndrome is more common than people think, so understanding the many ways it can manifest is crucial for setting children up for success," says Shaguna Mathur, MD, a Columbia pediatric neurologist and neurodevelopmental disabilities specialist.

Dr. Mathur works closely with primary care pediatricians like Jacqueline Steele, MD, to care for children with complex conditions like Down syndrome and help families navigate the journey. Together, they discuss what causes Down syndrome, address common misconceptions, and share how early treatments and supportive services can help children thrive.

What causes Down syndrome?

Each of our cells contains chromosomes, which carry the instructions for how our bodies grow and develop. Most people have 46 chromosomes, arranged in 23 pairs. Individuals with Down syndrome have extra genetic material from chromosome 21.

Most often, this happens because of a random error in cell division. This means that chromosomes do not separate as they normally would, resulting in an extra copy of chromosome 21.

Less commonly, Down syndrome occurs when extra chromosome 21 material is attached to another chromosome (translocation), or when only some of the body's cells have the extra chromosome (mosaicism).

Down syndrome is usually not inherited. It happens by chance and is not caused by anything parents did or didn't do.

What are the symptoms of Down syndrome?

Down syndrome can cause a wide range of physical, cognitive, and developmental differences. Not everyone experiences the same kind or severity of symptoms.

"Thanks to genetic screening, most people are diagnosed with Down syndrome before birth or during infancy," says Dr. Mathur, "but the diagnosis alone can't predict the course of someone's life. Everyone is affected differently."

• Physical signs include:
• Small head and jaw
• Large tongue
• Short neck
• Almond-shaped eyes
• Small nose with a flat bridge
• Wide, short hands with a single crease in the palm

People with Down syndrome usually have mild to moderate cognitive impairments that affect how they think and learn. Children may exhibit developmental delays when it comes to reaching milestones like rolling over, walking, and speaking.

Down syndrome can also cause a wide range of health complications, such as:

• Seizures
• Autism
• Hearing and vision problems
• Thyroid issues
• Congenital heart defects
• Obstructive sleep apnea
• Gastrointestinal issues like celiac disease, constipation, and gluten sensitivities
• Higher risk of Alzheimer's disease and leukemia

How is Down syndrome treated?

Caring for a child with Down syndrome involves a large team of experts. Primary care pediatricians develop long-term relationships with patients throughout their childhood and adolescence, forming a deep understanding of each child's unique needs.

They also coordinate medical care with pediatric specialists. Advances in early screening and monitoring of conditions like hearing loss and congenital heart defects allow specialists to address issues before they become severe.

Early interventions like physical therapy, speech therapy, occupational therapy, and special education help children with Down syndrome build important skills. "Providing kids with these kinds of services early in life can really improve their long-term development," says Dr. Steele.

Around age 14, the pediatric care team, families, and patients begin to discuss the transition to adult life. This can include introducing a new team of adult providers, preparing for college and jobs, creating plans for long-term care and accommodations, and more.

"For caregivers and loved ones, there's a lot to learn and to keep track of, but you don't need to do it all in one day," says Dr. Steele. "It's our job to help you decide what aligns with your family's values and guide you each step of the way."

What are some overlooked or misunderstood aspects of Down syndrome?

"A lot of people think that Down syndrome is rare and only happens when women have children at an older age. But in reality, it's the most common chromosomal condition, and people of any age can have a child with Down syndrome," says Dr. Mathur. "Everyone should consider getting screened during pregnancy no matter how old they are."

Many other common misconceptions also relate to how people with Down syndrome experience the world.

"People sometimes forget that children with Down syndrome are still children," says Dr. Steele. "They feel the same range of emotions, have interests and aspirations, and deserve to be involved in the same important conversations about bullying, puberty, sex, and other topics as anyone else their age."

Today, advances in medical care and supportive services are helping people with Down syndrome live longer, healthier lives and achieve more than ever. In July 2024, Ana Victoria Espino de Santiago from Mexico made history as the first person with Down syndrome to become a lawyer.

What additional resources are available to support those with Down syndrome?

Living with Down syndrome can seem overwhelming, but whether you're a patient or loved one, you're not alone. There are many resources available, including local and national advocacy groups, individual and family therapy, accessible job and educational programs, and Unified Sports.

"I tell families that it's a marathon, not a sprint," says Dr. Mathur. "We're here to tell you what to look for, what to prepare for, and provide the medical care and resources your family needs so you can focus on welcoming your new child into the world."