Down syndrome

At Children’s Hospital Boston, we take a family-centered approach to treatment. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and psychosocial needs, including putting you in touch with other families with a child who has Down syndrome, and connecting you to community and educational services.

How is Down syndrome treated?

Since there’s no cure for Down syndrome, treatments are based on a child’s unique symptoms. Because research indicates that intensive therapies are often enormously helpful to children with Down syndrome, treatment usually involves individualized recommendations for behavioral, educational, and medical therapies for your child. At Children’s, we are dedicated to helping your family find the best approaches for your child—both when he or she is first diagnosed, and as he or she grows.

Medication can be used for:

• hypothyroidism
• childhood leukemia
• seizure disorders

Surgery may be used to treat:

• congenital heart problems
• upper neck abnormalities

Treatment for heart defects:

• Almost half of children with Down syndrome are born with congenital heart defects. Babies with congenital heart conditions are treated by specialists called pediatric cardiologists. These physicians diagnose heart defects and help manage the health of children before and after treatment.

• Treatment is based on the severity of your child’s heart condition. Some mild heart defects don’t require any treatment. Others can be treated with medications, interventional procedures or surgery.

The Heart Center here at Children’s is the largest in the United States and one of the most specialized in the world.  We provide a full range of care, from diagnostic assessment to interventional therapy and our specialists experience treating rare heart problems with results that are among the best in the world. Contact us to learn more or make an appointment.

Therapy

Generally, therapists use a combination of approaches in order to address your child’s unique social, behavioral, communication and academic needs. The goal is to develop a program that will help your child reach his full potential.

• speech therapy can help improve your child’s communication skills and help him use language to express himself.

• occupational therapy can improve your child’s motor skills, such as using his hands and other parts of his body,and help him deal with sensory inputs from his environment.

• physical therapy can increase mobility and muscle strength and help your child  to work within his functional limitations.

• behavioral therapy is an important resource that focuses on managing emotional and behavioral problems. This therapy can also teach families how to cope help a child with Down syndrome cope with anger or frustration.

Educational assistance

Most of the educational therapies used to address the core symptoms of Down syndrome are provided through programs run by your state and your local school system. There’s no one educational approach that’s best for every child. Your child may need to learn in a special classroom, or he may be part of a regular class and get special assistance there.

• Children under age 3 who have Down syndrome or other developmental challenges are eligible to receive developmental services through state-run, federally mandated programs. These programs have different names in each state. In Massachusetts, the program is called Early Intervention. It’s administered by the Massachusetts Department of Public Health along with additional Specialty Services. The services your child receives are guided by an Individualized Family Service Plan (IFSP).

• Please contact our Down Syndrome Program for more help or supports.  857-218-4329

To learn more about how to access educational services in your community, see the resources listed under Coping and support.

What can I expect during the first appointment with my baby’s doctor?

Our physicians are available as soon as the parents want to come in after getting settled at home.  As soon as you are ready, they can explain what you can expect during the first year of your child’s life and beyond. Our doctors see this as a chance to meet the family, learn about where they’re coming from, find out what information they have and what information they need.

During the initial meeting, we ask parents about their top concerns. We encourage parents to ask any questions that are important to them, because those are the questions that are most important to us. And of course, they’re going to make sure that you are up to date with all of their recommended clinical care guidelines for people with Down syndrome.

What makes your approach unique?

The Down Syndrome Program in the Developmental Medicine Center at Boston Children's Hospital offers multidisciplinary clinical evaluations for people with Down syndrome from birth until they reach age 18. With each appointment, we are also able to make referrals and connections with any of the other specialty clinics at Children's.

We also understand that most of the time, the most helpful answers to your questions come from the other moms and dads who are out there, so we refer parents to programs, organizations, and workshops for families with special needs

Coping and Support

Special resources for parents

Want to talk with someone else whose child has Down syndrome? Children’s can put you in touch with other families who have been down a similar road and can share their experience.

• The Program Coordinator at the Down Syndrome Program facilitates a parent support group that meets one evening each month at Children’s. Meetings feature different topics and speakers. Parents who attend are a diverse group with children of all different ages. The program strives to keep families updated on new materials, upcoming events, and available resources in their community. Monthly mailings or emails are sent out to keep parents connected with happenings in the Down syndrome community.

• Understanding a Down Syndrome Diagnosis is a booklet that our Down Syndrome Program shares with expectant parents that visit us for a prenatal visit.  It is also sold by Lettercase and was created with input from both the medical and Down syndrome communities, including representatives of ACOG, NSGC, ACMG, NDSC, and NDSS, to provide accurate, up-to-date, and balanced prenatal information about Down syndrome. The booklets cover available health and education services, common medical conditions for babies with Down syndrome, information about pregnancy options, and helpful resources about the condition.

• Diagnosis to Delivery:  A Pregnant Mother’s Guide to Down Syndrome is a free online book that offers information and suggestions to expectant mothers who have chosen to continue their pregnancies after receiving a prenatal diagnosis of Down syndrome.  The book includes information on how to inform relatives, how to prepare for your baby’s birth, and what to consider on birth announcements.

Children’s resources for families

Here’s a list of resources that are available to your family at Children’s:

• Children’s Center for Families is dedicated to helping families locate the information and resources they need to better understand their child’s particular condition and take part in their care. All patients, families and health professionals are welcome to use the center’s services at no extra cost. The Center for Families is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information. 

• On our Children’s For Patients and Families site, you can read all about:
  • getting to Children’s
  • accommodations
  • navigating the hospital experience

• The Experience Journal was designed byChildren’s psychiatrist-in-chief David DeMaso, MD and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about going through cardiac disease, heart transplants and many other medical experiences.

Other resources

The websites of these organizations may also be helpful to you:

Please note that neither Children’s Hospital Boston nor the Down Syndrome Program at Children’s unreservedly endorses all of the information found at the sites listed below.

• Down Syndrome Pregnancy, Inc, a New Jersey charitable corporation, provides information and support to expectant parents preparing for the birth of a baby with Down syndrome.  All of their materials are geared to non-political, honest, compassionate and informative support for those in post-diagnosis pregnancy or waiting until birth for a confirmed diagnosis.  Down Syndrome Pregnancy offers a free, downloadable pregnancy book entitled Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome by Nancy McCrea Lannone and Stephanie Hall Meredith.  

• Massachusetts Down Syndrome Congress has a Parent First Call Program.  They have trained, volunteer parents who make themselves and their knowledge available to expectant parents and parents of babies newly diagnosed with Down syndrome.  They offer an opportunity to ask questions and share experiences, information on Down syndrome and assistance in locating services.  All their services are free and confidential.  

• National Down Syndrome Congress offers an Expectant Parents Guide, articles and other information for expectant parents.  

• National Down Syndrome Society also offers information for expectant parents, in addition to an up-to-date and accurate summary of medical conditions and other health-related topics.

Resources for education

• The Federation for Children with Special Needs provides an extensive manual on education for children with special needs, “A Parent’s Guide to Special Education” (pdf), at their website.

• The Massachusetts Office of Health and Human Services provides detailed information on Early Intervention in Massachusetts, a service available to families of children with developmental difficulties between birth and age 3

• Family Ties of Massachusetts manages a listing of Early Intervention programs and other resources around the state.