Down Syndrome Services

Children's Specialized Hospital
Down Syndrome Center of Excellence

The mission of the Children's Specialized Hospital (CSH) Down Syndrome Center of Excellence is to support fulfilling lives for individuals with Down syndrome (DS) and their families. The mission rests upon these values: supporting lives with meaning and purpose, exercising choice, building on strengths and empowering access to necessary resources. We are dedicated to excellence across these domains:

• Service: We recognize the importance of evidence-based care for children with Down syndrome to optimize their health and wellbeing. We believe in the immense potential of children with Down syndrome, and we facilitate access to therapeutic services that support development, learning and skill acquisition.
• Training: We strive to educate professionals, educators and families on the needs and strengths of individuals with Down syndrome, to improve access to and quality of support throughout the community.
• Advocacy: We appreciate neurodiversity and support individuals with Down syndrome in their pursuit of social, health care, and educational equity. We also recognize the effects that social drivers of health have on a person's wellbeing.
• Research: We are dedicated to the scientific exploration required to better understand and effectively support individuals with Down syndrome across the lifespan.

Services

Therapies

• Feeding - dysphagia
• Feeding - picky eating
• Occupational therapy - fine motor
• Occupational therapy - sensory
• Physical therapy - gross motor
• Physical therapy - pelvic floor therapy
• Speech therapy - mouth words, augmentative and alternative communication (AAC) speech therapy, sign language
• Psychology - therapy/counseling
• Psychology - behavior education/support
• Early intervention
• Care coordination
• Applied behavior analysis (ABA) therapy - for those with Down syndrome and autism spectrum disorder

Medical

• Developmental and Behavioral Pediatrics
• Psychiatry
• Physiatry
• Nutrition
• Audiology
• Neurology
• Primary Care
• Rehab Tech
• Orthopedics

Other Services

• Inpatient Rehabilitation
• Connection with Children's Health specialties (every specialty may be involved in caring for someone with DS - need to have very clear picture of what services are offered)
• Special child case management (NJ state program)

Training

Professional

• Grand Rounds to Children's Specialized Hospital
• Grand Rounds to larger Children's Health system
• Medical education for professionals in training
• NJ LEND Program
• Medical education for OB/GYN including best practices for discussing a diagnosis of DS

Patients

• Puberty and sexuality
• Supporting positive behavior
• Special education basics
• Siblings
• Toilet training
• Nutrition and physical activity for weight management

Community

• Down syndrome associations (Gigi's in Hillsborough, DS of Southern NJ, DS of Northern NJ, Club DREAMS)
• Educational services support (SPAN)
• Family Faculty at CSH
• Medical education for provider community
• Boggs Center for Disability and Human Development

Advocacy

Equity

• Screening for social drivers of health and follow up support
• LAMP medical-legal partnership
• Food insecurity support
• Respite
• Secondary Medicaid
• Caregiver programs (ex PPP)
• Case management through insurance
• Performance developmental disability services

Safety

• Community Safety education
• Elopement screening and resources
• CSH Online Safety Center
• Home nursing referrals
• Center for Independent Living

Transition

• Decision-making options
• Transition readiness screenings
• Health passport for coordination to adult care
• Supplemental Security Income (SSI) application
• Developmental Disabilities Services application
• Information about post-secondary education programs, supported employment
• Center for Independent Living

Inclusion

• Educational rights education
• Recreation
• Representation

Caregiver Education and Support

• Connection with national organizations (National Down Syndrome Congress, National Down Syndrome Society, Down Syndrome Diagnosis Network, Down Syndrome Education International, Global)
• Connection with local organizations (Gigi's in Hillsborough, DS of Southern NJ, DS of Northern NJ, Club DREAMS)
• Educational services support (SPAN)
• American Academy of Pediatrics (AAP) Guidelines/Adult Guidelines

Research

Research

• CAPEabilities
• NIH DS-Connect
• Rutgers University
• Bogg Center on Disability and Human Development
• Down Syndrome Medical Interest Group

Assessments

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.

Frequently Asked Questions

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.

Down Syndrome and 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.

It is important to start thinking about adult life early on, so that we may set goals to maximize independence. Some adults with Down syndrome work and live semi-independently. Other adults with Down syndrome require more assistance; they may attend day programs once they become adults. We cannot predict the future, but we can think together about how to maximize friendships, independence, physical activity and continue to explore interests that could later become jobs.