Down Syndrome FAQs

Children's Specialized Hospital
Down Syndrome Center of Excellence

Frequently Asked Questions

What can I expect from my visit at the CSH Down syndrome clinical program?

Children’s Specialized Hospital offers multidisciplinary assessments for children with Down syndrome ages 0-21 years. The team includes:

• A physician experienced in caring for children with Down syndrome
• Speech, physical and occupational therapists who each evaluate the child’s motor, feeding, adaptive and communication skills
• A psychologist for older children who will evaluate for co-occurring mental health and neurodevelopmental diagnoses and can provide guidance to support positive behavior.

Visits are about 2 hours long. We encourage families to bring a snack and a favorite toy, to make your child comfortable in a new environment.

What is Down Syndrome?

Down syndrome is a genetic condition characterized by having an extra copy of the 21^st chromosome. Chromosomes are tiny instruction books that tell our body how to grow and work. Usually, people have 46 chromosomes (23 from each parent). People with Down syndrome have 47 chromosomes. The extra chromosome impacts how the body and brain develop and function.

What are some health conditions that we see in people with Down syndrome?

Each person with Down syndrome is unique, just like everyone else. There are some medical and developmental conditions that happen more commonly in people with Down syndrome. It is important to know what these conditions are, because we can treat them and because they can impact learning and growth. Some of the important conditions that we monitor throughout childhood include:

• Hearing abilities: Children with Down syndrome are more likely to have some difficulties hearing, especially when they are young. Most children with Down syndrome CAN hear, but their hearing can be a muffled, which can impact how they learn to talk. There are different types of hearing difficulties, and a good audiologist can help detect if hearing challenges are present. Ear, nose and throat (ENT) doctors can help maximize hearing with different types of interventions. It is important for children with Down syndrome to have their hearing tested at least once a year starting when they are babies

• Vision abilities: It is common for children with Down syndrome to need glasses at some point in their childhood. Most children with Down syndrome can see, but some may have blurry vision due to a lazy eye or vision conditions like being near-sighted, far-sighted or having astigmatism. Some babies with Down syndrome are born with cataracts. It is important to maximize vision abilities to support a child’s learning. For this reason, it is important for children with Down syndrome to have their vision tested by an eye doctor every year starting when they are babies

• Thyroid conditions: The thyroid is a gland in our necks that makes a hormone called thyroid hormone. Thyroid hormone is very important for growth and brain development. Children with Down syndrome are more likely than children without Down syndrome to have thyroid levels that are too low or too high. For this reason, we check thyroid function tests every year starting when they are babies

• Feeding conditions: Babies with Down syndrome may have a hard time learning how to suck from the bottle or the breast. This often improves with time. Some babies and young children with Down syndrome can have some difficulties swallowing liquids, and sometimes liquids go down the wrong pipe – something called “aspiration”. As kids grow older, they sometimes have difficulties with chewing their food well; they sometimes overstuff their mouths; they can have a hard time knowing when they are full. We talk about feeding with every family of young children, and we have tools and therapies to better understand and support feeding skills. As children grow older and they are more likely to develop obesity, we work closely with families to provide dietary and exercise advice to support a healthy weight.

• Gut conditions: Some babies with Down syndrome are born with conditions of their gut that require surgeries. Most are born without these issues. However, it is very common for children with Down syndrome to have constipation and other digestive issues, including celiac disease. Good screening for these conditions gives us a roadmap for supporting a healthy gut in children with Down syndrome

• Heart conditions: About half of individuals with Down syndrome are born with a heart condition, and some require medication and/or surgery. Babies with Down syndrome should have an ultrasound of their heart (called an echocardiogram) after they are born to help identify if a heart condition is present. Cardiologists are specialists who manage heart conditions.

• Respiratory illnesses: Children with Down syndrome may get sick more often. When they get sick, they sometimes need to be in the hospital for respiratory treatments and oxygen. The best things we can do to prevent respiratory illnesses include good hand hygiene, using masks when caregivers or family members are sick, and getting vaccinated to protect against influenza, RSV, and other bacteria and viruses that can cause respiratory illnesses, including pneumococcus, whooping cough and COVID.

• Seizures: Some young children with Down syndrome can develop a type of seizure called “infantile spasms.” These are like small jerking or startle movements that happen in clusters. If a parent sees these movements, they should call their pediatrician immediately and go to the emergency room for an evaluation that includes a test called an electroencephalogram (EEG). The sooner these seizures are treated, the better children do in the long run.

• Other conditions: There are other conditions that can be diagnosed in children with Down syndrome. For this reason, it is important to connect with doctors who are experienced in taking care of children with Down syndrome and are familiar with associated conditions.

How do children with Down syndrome learn and develop?

Children with Down syndrome often take longer to learn new skills. They benefit from early intervention to promote social, cognitive, language and physical development. Children with Down syndrome work very hard to reach new milestones, and every new acquired skill deserves to be savored and celebrated. It is very helpful when families and caregivers repeat the exercises learned in therapy every day. It is also very important to play often with your child, read to them every day, sing songs (children with Down syndrome usually love music!) and minimize time on screens.

A variety of medical professionals can support children with Down syndrome and enable them to develop life skills:

• Physical therapists specialize in supporting movement and functioning of the big muscles in the body. They help children with Down syndrome learn to sit, walk, run, jump, and stay strong.
• Occupational therapists specialize in supporting movement and functioning of the smaller muscles of the hand. They help children with Down syndrome learn to use their hands, feed themselves, use writing utensils, take care of daily needs like dressing and hygiene. They are also specialists in sensory support, and can be really helpful when children have sensory needs. They can also work with children who are very picky eaters, to help them eat a greater variety of foods.
• Speech therapists specialize in supporting communication. They can help children with Down syndrome learn to communicate using gestures, words, and even devices like communication tablets. They are also experts in the muscles of the mouth, and can support children who struggle with chewing and swallowing.

What if my child also has autism?

Some children with Down syndrome also have autism. Autism is a neurodevelopmental condition that affects social interactions and social communication, and can present with restricted and/or repetitive behaviors or interests. Autism is known as a spectrum disorder as the characteristics affect each person differently and in varying degrees. Children’s Specialized Hospital is a Center of Excellence for Autism care, and you can learn more about autism here. When a child with Down syndrome is also diagnosed with autism, they can receive additional therapies to help them with their behavior, communication and independence.

As they grow older, they can receive special education services through their school district to continue to support their learning, communication, and motor skills. Good educational plans include goals that support long term goals for inclusion, employment and a vibrant social life.