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Down Syndrome

  • With early intervention and special education, the outlook for children with Down syndrome is far brighter than it once was. Still, at Children’s Hospital Boston, we understand that a diagnosis of Down syndrome comes with a lot of questions and concerns about your child’s health. We’ve provided some answers to some of those questions here, and when you meet with our team of experts, they will be able to address all of your questions and explain your child’s condition in more detail.

    Here are some of the basics about Down syndrome:

    • Down syndrome is a condition in which babies are born with extra genetic material from chromosome 21.
    • The extra chromosome is sometimes accompanied by other conditions, including mild to moderate intellectual disabilities, characteristic facial features, and health concerns such as cardiac defects. The degree of these conditions varies greatly from child to child.
    • Trisomy 21 is the most common type of Down syndrome, occurring in about 95 percent of cases. The two other variants of Down syndrome are Translocation Down Syndrome (4%) and Mosaic Down syndrome (1%).
    • Down syndrome is the most common genetic birth defect, affecting approximately 1 in every 691 babies.
    • Down syndrome, itself, does not have a cure.  But, treatment is available for many of the other symptoms and conditions that can accompany the diagnosis.  
    • Life expectancy for people with Down syndrome is about 55-60 years, though average life span varies.

    How Boston Children's Hospital approaches Down syndrome:

    At Children’s Down Syndrome Program in the Developmental Medicine Center, we offer multidisciplinary clinical evaluations for people with Down syndrome from birth until the age of 18. With each appointment, we are also able to make referrals and connections with any of our other specialty clinics.

    Our Down Syndrome Program is more than a clinic, however. We strive to provide resources, advocacy, and supports to all families, depending on their individual needs. 

    Down syndrome: Reviewed by Emily Jean Davidson, MD, and Brian Skotko, MD © Children’s Hospital Boston, 2011

    Contact Us


    Children's Hospital Boston
    300 Longwood Avenue
    Boston MA 02115
     857-218-4329 
     fax: 617-730-0049


  • In-Depth

    At Boston Children’s Hospital, we understand that if your child has been diagnosed with Down syndrome, you have a lot of questions and concerns about your child’s health and future.

    Everyone has a whole range of skill sets, and it’s tough for any parents to predict what their children’s unique capacities will be. Remember that every child born with Down syndrome has talents, it’s a just matter of discovering and nourishing them.

    What is Down syndrome?

    • Down syndrome is a chromosomal condition that is typically caused when a baby is conceived with 47 chromosomes instead of the normal 46. Starting in the womb, this additional genetic material alters the course of the child’s development.
    • The most common form of Down syndrome, Trisomy 21, occurs when a child is born with a full three copies of the 21st chromosome, rather than the normal two.  In rare cases,Down syndrome is caused by other chromosomal arrangements.
    • Children with Down syndrome typically have intellectual disabilities, hypotonia (low muscle tone) and characteristic facial features, such as upward slanted eyes and a flattened nasal bridge.
    • Except for Translocation Down syndrome, which occurs in about 4% of people with Down syndrome, the condition is not inherited, which means that it doesn’t run in families.

    What are the different types of Down syndrome?

    There are three different types of Down syndrome:

    • Down syndrome (or Trisomy 21) accounts for ninety-five percent of people with Down syndrome. A child with Trisomy 21 has three copies of chromosome 21, rather than the normal pair.
    • Translocation Down syndrome accounts for just three to four percent of people with Down syndrome. Translocation is what people are referring to if they say that the condition is inherited, because usually one parent is a carrier. The extra #21 chromosome is present, but attached to a different chromosome in the egg or sperm. The clinical features of people with Translocation Down syndrome are indistinguishable from those with Trisomy 21.
    • Mosaic Down syndrome accounts for less than one percent of all people with Down syndrome. Children born with Mosaic Down syndrome have some cells with three copies of chromosome 21 and some cells that have the usual pair. Clinically, babies born with Mosaic Down syndrome can have the same features and health problems seen in babies born with Trisomy 21 or Translocation Down syndrome.However, the presence of cells with the normal number of chromosomes may result in fewer characteristics of Down syndrome.

    Are there any medical conditions associated with Down syndrome I should be concerned about?

    Children with Down syndrome have an increased risk for certain medical conditions such as:

    • ear infections and increased risk for other infections
    • increased risk for visual or hearing impairment.
    • atlantoaxial instability (compression injury of the spinal cord)

     

    Causes

    What causes Down syndrome?

    Down syndrome is caused by a chromosomal condition that occurs in the sperm or egg prior to conception. In most cases, Down syndrome occurs when a child inherits an extra copy of Chromosome 21 from the parents.  The most typical type of Down syndrome is also known as “Trisomy 21” due to the fact that there are three copies of this chromosome instead of the usual two.

    Chromosomes and Down syndrome:

    • Normally, the mother's egg and the father's sperm each start out with 23 chromosomes. When the egg and sperm meet at conception, a child inherits 23 chromosomes from each parent, ending up with a total of 46 chromosomes.
    • In the case of Down syndrome, an change occurs during cellular division such that the egg or sperm has two copies of chromosome #21 and a total of 24 chromosomes. Researchers are still unsure of what causes the cells to divide in this manner.
    • If this egg or sperm is fertilized, the baby ends up with three copies of the #21 chromosome or"Trisomy 21":. This extra genetic material causes the variety of health and developmental issues  in Down syndrome.

     

    Signs and symptoms

    Down syndrome can affect a child physically, cognitively, and behaviorally. Remember that every child with the condition is unique and may possess these characteristics to different degrees or not at all.

    Physical

    A child with Down syndrome will have some, but perhaps not all, of the following features:

    • eyes that slant upward
    • small ears that may fold over slightly at the top
    • a smaller than average mouth, making the tongue appear larger
    • a smaller than average nose, with a flattened nasal bridge
    • short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
    • some babies with Down syndrome have short necks and small hands with short fingers
    • rather than having three 'creases' in the palm of the hand, a child with Down syndrome may have one single crease that goes straight across the palm, and a second crease that curves down by the thumb.
    • A child with Down syndrome is often shorter than average and has unusual looseness in his or her joints
    • hypotonia (low muscle tone) throughout the body.

    Cognitive and behavioral

    Children with Down syndrome are also at a higher risk for being affected by the following cognitive and behavioral symptoms:

    • difficulty learning how to navigate social situations
    • short attention span
    • impulsivity
    • “stubbornness” that may be attributed to the child’s desire for routine and order
    • frequent angry outbursts if this routine is disturbed
    • a child may use “self talk” (talking out loud to himself) as a way of understanding and processing information

     

    FAQ

    Q: What is Down syndrome?

    A: Down syndrome is a condition in which extra genetic material interferes with a child’s cognitive and physical development. In most cases of Down syndrome, a baby will have an extra copy of chromosome 21. This is where Trisomy 21, the medical term for Down syndrome, gets its name.

    Q: What causes Down syndrome?

    A: Down syndrome is caused by the presence of extra chromosomal material. This happens during the time of conception, when the baby is normally supposed to inherit only 46 chromosomes, combined from the mother and father. Instead, a baby with Down syndrome typically inherits an extra copy of chromosome 21. As a result, the baby is born with 47 chromosomes instead of 46. It’s this extra genetic material that causes physical and developmental challenges.

    Q:  What are my chances of having a child with Down syndrome?

    A:  The chances of having a baby with Down syndrome increases with the mother’s age. Even though age alone can’t predict the number of pregnancies that will result in Down syndrome, this is the general guideline:

    • 1 in 1,000 for mothers under age 30
    • 1 in 400 for mothers older than 35
    • 1 in 60 for mothers older than 42

    Prenatal testing for the condition is available to any expectant parent who desires that information.

    Q: Do symptoms become progressively worse?

    A: Since Down syndrome is not a progressive condition, symptoms will not get worse over time. However, some of the complications associated with Down syndrome can occur at different stages in a child’s life. While some symptoms are present when a child is born, others can emerge during childhood, adulthood, or in elderly patients.

    Because different symptoms can emerge at different stages, it’s important to see a Down syndrome specialist who can determine what’s typical and what’s not typical for people with Down syndrome.

    Q: Can my child have children? 

    A: Although there have been rare exceptions, men with Down syndrome are not expected to be able to father a child. Women with Down syndrome may have decreased fertility. In any pregnancy, a mother with Down syndrome has about a 50 percent chance of conceiving a child with Down syndrome if the father does not have Down syndrome, though many pregnancies are miscarried.

    Q: Does Down syndrome limit what my child can do?

    A: Although your child may learn skills at a different rate than children without Down syndrome, he should still be able to do most things that any young child can do, such as walking, talking, dressing and being toilet trained. Encouragement and support are the best tools you can give your child in helping him reach developmental milestones.

    Q: Can my child go to school, despite having Down syndrome?

    A: Yes. There are special programs beginning in the preschool years to help children with Down syndrome develop skills as fully as possible. Many children with Down syndrome can, to some extent, be integrated in the regular classroom. With Early Intervention and special education, the outlook for children with Down syndrome is far brighter than it once was.

    Q; How serious is the cognitive and intellectual disability that accompanies Down syndrome?

    A: The degree of cognitive and intellectual disability that accompanies Down syndrome varies widely, ranging from mild to moderate to severe. However, most cognitive and intellectual disability falls within the mild to moderate range.

    Q. What does “mild to moderate intellectual disability” mean?

    A. Children with mild intellectual disability are usually able to do everyday things like read, hold a job, and take public transportation independently. Children with moderate intellectual disability probably need more support.

    Q: What is the long-term outlook for my child?

    A: The average life span for people with Down syndrome has increased dramatically since the early 1900s and many people with the condition achieve independence, hold jobs, and move into assisted living arrangements. Although there may be some challenges, with the right treatment and care, your child will have every opportunity to live a happy and fulfilling life.

    Issues relating to school and education are usually a top concern for children with Down syndrome, so its good idea to seek out educational assistance programs as early as possible. Special education and Early-Intervention services are provided through each community to children with disabilities, so check with your social worker to see what options are available to you.

    Delays in physical development may also cause problems for your child down the road. Luckily, there are many different types of therapy that can make living with Down syndrome easier and more comfortable. Visit the Treatment tab to learn more about the various therapy options Children’s offers.

    Questions to Ask Your Doctor

    You will probably have a lot of questions on your mind before meeting with your child’s doctor. At the appointment, it can be easy to be overwhelmed with information and forget the questions you wanted to ask.

    A lot of parents find it helpful to jot down questions beforehand. That way, when you talk to your child’s clinician, you can be sure that all your concerns are addressed. Remember that physicians are open to learning from families too. Attend conferences, read up on updated materials and don’t be afraid to share what you have learned.

    Some questions you might ask include:

    • What kinds of treatment will my child need?
    • What social and behavioral problems should I expect?
    • How can I help my child focus on his strengths?
    • How should I talk to my child about this condition?
    • Do I need to restrict my child’s psychical activity?
    • Do I need to make changes to my child’s home and school routines?
    • What kind of follow up care will my child need?
  • Tests

    Receiving a diagnosis of Down syndrome can be a stressful time for your family. You are being given a lot of new information and you probably have a long list of questions. All of the members of our team in the Down Syndrome Program  at Children’s Hospital Boston are here to help.

    We’ll watch your child’s symptoms closely and consider different medications if needed. We make every effort to keep symptoms in check so that your child can avoid unnecessary hospitalizations. At the same time, we choose treatment plans carefully to minimize side effects.

    How is Down syndrome diagnosed?

    Down syndrome can be detected during pregnancy through various prenatal tests. Down syndrome can also be diagnosed after birth with a chromosomal analysis called a karyotype.

    Why are prenatal tests used?

    Prenatal tests are optional tests that can be performed during pregnancy to identify a fetus’s sex, age, size and placement in the uterus. Prenatal tests also detect chromosomal conditions, congenital heart defects, and other genetic conditions.

    How early should parents consider prenatal testing?

    Ideally, the best time to start thinking about prenatal tests is before conception. Although no testing can be done at that point, the doctor can look at your family’s medical history to see if you might have an increased risk for genetic conditions such as Down syndrome. 

    The American College of Obstetrics and Gynecologists now recommends that all women be offered prenatal testing.

    What are the different types of prenatal tests?

    Before any parent decides whether or not to get prenatal testing, it’s important to know all the options and the advantages and disadvantages of each one.  The two types of prenatal tests used to detect Down syndrome are called screening tests and diagnostic tests.

    Screening tests

    • Screening tests determine what the chances are that your baby will be born with Down syndrome or other medical conditions. This kind of testing does not definitively diagnose a fetus with one of these conditions.

    The different types of screening tests include:

    • blood tests, which are used to measure protein and hormone levelsin pregnant women. Abnormally increased or decreased levels can indicate a genetic condition.  New blood tests can also detect chromosomal material from the fetus that is circulating in the mother’s blood.
    • ultrasound, which is a non-invasive imagining technique that uses sound waves to generate an image of the fetus.  An ultrasound can identify congenital heart conditions and other structural changes that may indicate a diagnosis of Down syndrome.

    The combined results of these two tests are used to estimate the chance that your baby will be born with Down syndrome.

    Diagnostic tests

    • Diagnostic tests can determine whether or not your fetus has Down syndrome with nearly 100 percent accuracy. However, because these tests are performed inside the uterus, they carry a small increased risk of miscarriage and other complications.

    The different types of diagnostic testing include:

    • Chorionic villus sampling (CVS), a prenatal diagnosis method in which a small biopsy of the placenta is taken for specific genetic testing. CVS is used to detect any condition that involves specific chromosomal abnormalities, like Down syndrome. This test is usually performed during the first trimester between 10-14 weeks of gestation.
    • amniocentesis, a prenatal diagnosis method in which a needle is inserted into the amniotic sac that surrounds the baby. Amniocentesis is most often used to detect Down syndrome and other chromosomal abnormalities. This test is usually done in the second trimester, after 15 weeks of gestation.

    Testing after birth

    Down syndrome can also be diagnosed after the baby is born:

    • Since Down syndrome involves a set of unique characteristics, a doctor can usually tell whether a baby should be tested based on a physical examination.
    • To confirm the findings, a karyotype (a small blood or tissue sample) can be analyzed to determine the presence of extra material from chromosome 21. This information is important in determining the chance of a mother having a baby with the condition in the future.

    What should I do after my child is diagnosed with Down syndrome?

    Parents who receive a prenatal diagnosis are given an opportunity to meet and talk with a developmental pediatrician and/or clinical geneticist about Down syndrome to ask questions. Our  Down Syndrome Program works closely with the Advanced Fetal Care Center at Children's.   Please feel free to contact the Down Syndrome Program Coordinator who can provide materials on Down syndrome, make connections, and describe support services.

    You can also call our Down Syndrome Program at (857) 218-4329, and we will arrange a time to meet with you and your child. 

  • At Boston Children's Hospital, 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:

    Surgery may be used to treat:

    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 by Children'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 Boston Children's Hospital 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

  • Research & Innovation

    Children’s Hospital Boston’s Intellectual and Developmental Disabilities Research Center (IDDRC) is one of 20 research centers around the country dedicated to the study of intellectual and developmental disabilities, with the goal translating basic research into improved care approaches. Our scientists are conducting genetic, molecular, behavioral and biobehavioral research on Down syndrome, Fragile X and Rett syndrome to advance the diagnosis and treatment of these developmental disabilities.

    Cancers and Down Syndrome

    Research has shown that an extra copy of chromosome 21 could be the reason why people with Down syndrome have a lower rate of some forms of cancer than the general population.  Some scientists believe that people with Down syndrome may be getting an extra dose of one or more cancer-protective genes because they have an extra copy of chromosome 21.

    The late cancer researcher Judah Folkman, MD, founder of the Vascular Biology Program at Children's, popularized the notion that they might be benefiting from a gene that blocks angiogenesis, the development of blood vessels essential for cancer's growth, since their incidence of other angiogenesis-related diseases like macular degeneration is also lower. A study from Children's confirms this idea in mice and human cells and identifies specific new therapeutic targets for treating cancer.

    Folkman's interest in why patients with Down syndrome have such a reduced risk for cancer focused on endostatin, an anti-angiogenic compound made by the body. Discovered in the Folkman lab, endostatin is a fragment of collagen 18--whose gene is also on chromosome 21. People with Down syndrome reportedly have almost doubled levels of endostatin because of the extra copy of the gene.

    Cancer researcher Sandra Ryeom, PhD, from Children's Vascular Biology Program worked in collaboration with George Daley, MD, PhD, in the Stem Cell program at Children's. Their research helped validate and confirm that the suppression of angiogenesis that seen in mouse models also holds true in humans.

    Obstructive sleep apnea study at the Down Syndrome Program

    Obstructive sleep apnea or OSA is highly prevalent in children and young adults with Down syndrome.   In conjunction with the Down syndrome program, Children’s is conducting a study to help develop a screening tool that is comfortable, practical, and most importantly, effective for diagnosing OSA in individuals with Down syndrome.

    Right now, we are inviting all children with Down syndrome ages 3-18, to participate.  All participants must be patients who already have a scheduled visit in our Program.  As part of the study, all participants will be evaluated for OSA.  If you, or someone you know would be interested in learning more, please email Lauren Voelz for more information.

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