Medical

Children with Down syndrome face the same medical challenges that children in the rest of the population face…just at a slightly higher frequency. Those challenges are further complicated by issues our children face just by having Down syndrome.

This web page is designed to help parents make informed decisions about the medical care for their children, including those with Down syndrome. Here, You’ll find information on a wide array of medical topics that may apply to people with Down syndrome. We will continue to build this page as news of new medical advancements is available. Our goal is to provide you with the most current information possible on such topics as heart disease, atlantoaxial instability, Alzeheimer’s disease, Celiac disease and much more.

Our links page here will take you to recommended reading, books and the web sites of area medical hospitals, clinics and therapy centers that treat people with Down syndrome.

The information on these pages is meant to inform, but not to replace the advice of qualified medical professionals. It should be used to form a basis of understanding of these medical conditions and a springboard from which you can talk to your doctor about these issues, how they affect your child and what course of treatment is best for him or her.

  • Alzheimer’s

    Links:

    National Library of Medicine
    Webmd.com
    The Link Between Alzheimer’s Disease and Down Syndrome

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.

    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Atlantoaxial Instability

    Links:

    Safety of Neck Rotation for Ear Surgery in Children with Down Syndrome
    Atlanto Axial Instability in Down Syndrome
    Musculoskeletal Disorders in Down Syndrome
    Instability
    National Library of Medicine

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.

    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions,
dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Celiac

    The following information is from the National Digestive Diseases Information Clearinghouse

    What is celiac disease?

    Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate a protein called gluten, which is found in wheat, rye, barley, and possibly oats. When people with celiac disease eat foods containing gluten, their immune system responds by damaging the small intestine. Specifically, tiny fingerlike protrusions, called villi, on the lining of the small intestine are lost. Nutrients from food are absorbed into the bloodstream through these villi. Without villi, a person becomes malnourished–regardless of the quantity of food eaten. Because the body’s own immune system causes the damage, celiac disease is considered an autoimmune disorder. However, it is also classified as a disease of malabsorption because nutrients are not absorbed. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. Celiac disease is a genetic disease, meaning that it runs in families. Sometimes the disease is triggered–or becomes active for the first time–after surgery, pregnancy, childbirth, viral infection, or severe emotional stress.

    What are the symptoms?

    Celiac disease affects people differently. Some people develop symptoms as children, others as adults. One factor thought to play a role in when and how celiac appears is whether and how long a person was breastfed–the longer one was breastfed, the later symptoms of celiac disease appear and the more atypical the symptoms. Other factors include the age at which one began eating foods containing gluten and how much gluten is eaten.

    Symptoms may or may not occur in the digestive system. For example, one person might have diarrhea and abdominal pain, while another person has irritability or depression. In fact, irritability is one of the most common symptoms in children.

    Symptoms of celiac disease may include one or more of the following:

    recurring abdominal bloating and pain
    chronic diarrhea
    weight loss
    pale, foul-smelling stool
    unexplained anemia (low count of red blood cells)
    gas
    bone pain
    behavior changes
    muscle cramps
    fatigue
    delayed growth
    failure to thrive in infants
    pain in the joints
    seizures
    tingling numbness in the legs (from nerve damage)
    pale sores inside the mouth, called aphthus ulcers
    painful skin rash, called dermatitis herpetiformis
    tooth discoloration or loss of enamel
    missed menstrual periods (often because of excessive weight loss)
    Anemia, delayed growth, and weight loss are signs of malnutrition–not getting enough nutrients. Malnutrition is a serious problem for anyone, but particularly for children because they need adequate nutrition to develop properly.

    Some people with celiac disease may not have symptoms. The undamaged part of their small intestine is able to absorb enough nutrients to prevent symptoms. However, people without symptoms are still at risk for the complications of celiac disease. See Complications.

    How is celiac disease diagnosed?

    Diagnosing celiac disease can be difficult because some of its symptoms are similar to those of other diseases, including irritable bowel syndrome, Crohn’s disease, ulcerative colitis, diverticulosis, intestinal infections, chronic fatigue syndrome, and depression.

    Recently, researchers discovered that people with celiac disease have higher than normal levels of certain antibodies in their blood. Antibodies are produced by the immune system in response to substances that the body perceives to be threatening. To diagnose celiac disease, physicians test blood to measure levels of antibodies to endomysium and tissue transglutaminase.

    If the tests and symptoms suggest celiac disease, the physician may remove a tiny piece of tissue from the small intestine to check for damage to the villi. This is done in a procedure called a biopsy: the physician eases a long, thin tube called an endoscope through the mouth and stomach into the small intestine, and then takes a sample of tissue using instruments passed through the endoscope. Biopsy of the small intestine is the best way to diagnose celiac disease.

    Screening

    Screening for celiac disease involves testing asymptomatic people for the antibodies (see above). Americans are not routinely screened for celiac disease. However, because celiac disease is hereditary, family members–particularly first-degree relatives–of people who have been diagnosed may need to be tested for the disease. About 10 percent of an affected person’s first-degree relatives (parents, siblings, or children) will also have the disease. The longer a person goes undiagnosed and untreated, the greater the chance of developing malnutrition and other complications.

    What is the treatment?

    The only treatment for celiac disease is to follow a gluten-free diet–that is, to avoid all foods that contain gluten. For most people, following this diet will stop symptoms, heal existing intestinal damage, and prevent further damage. Improvements begin within days of starting the diet, and the small intestine is usually completely healed–meaning the villi are intact and working–in 3 to 6 months. (It may take up to 2 years for older adults.)

    The gluten-free diet is a lifetime requirement. Eating any gluten, no matter how small an amount, can damage the intestine. This is true for anyone with the disease, including people who do not have noticeable symptoms. Depending on a person’s age at diagnosis, some problems, such as delayed growth and tooth discoloration, may not improve.

    A small percentage of people with celiac disease do not improve on the gluten-free diet. These people often have severely damaged intestines that cannot heal even after they eliminate gluten from their diet. Because their intestines are not absorbing enough nutrients, they may need to receive intravenous nutrition supplements. Drug treatments are being evaluated for unresponsive celiac disease. These patients may need to be evaluated for complications of the disease.

    The Gluten-Free Diet

    A gluten-free diet means avoiding all foods that contain wheat (including spelt, triticale, and kamut), rye, barley, and possibly oats–in other words, most grain, pasta, cereal, and many processed foods. Despite these restrictions, people with celiac disease can eat a well-balanced diet with a variety of foods, including bread and pasta. For example, instead of wheat flour, people can use potato, rice, soy, or bean flour. Or, they can buy gluten-free bread, pasta, and other products from special food companies.

    Whether people with celiac disease should avoid oats is controversial because some people have been able to eat oats without having a reaction. Scientists are doing studies to find out whether people with celiac disease can tolerate oats. Until the studies are complete, people with celiac disease should follow their physician or dietitian’s advice about eating oats.

    Plain meat, fish, rice, fruits, and vegetables do not contain gluten, so people with celiac disease can eat as much of these foods as they like. Examples of foods that are safe to eat and those that are not are provided below.

    The gluten-free diet is complicated. It requires a completely new approach to eating that affects a person’s entire life. People with celiac disease have to be extremely careful about what they buy for lunch at school or work, eat at cocktail parties, or grab from the refrigerator for a midnight snack. Eating out can be a challenge as the person with celiac disease learns to scrutinize the menu for foods with gluten and question the waiter or chef about possible hidden sources of gluten. Hidden sources of gluten include additives, preservatives, and stabilizers found in processed food, medicines, and mouthwash. If ingredients are not itemized, you may want to check with the manufacturer of the product. With practice, screening for gluten becomes second nature.

    A dietitian, a health care professional who specializes in food and nutrition, can help people learn about their new diet. Also, support groups are particularly helpful for newly diagnosed people and their families as they learn to adjust to a new way of life.

    For More Information

    American Celiac Society — Dietary Support Coalition P.O. Box 23455 New Orleans, LA 70183 Phone: (504) 737-3293 Fax: (504) 737-4283 Email: amerceliacsoc@netscape.net American Dietetic Association 120 South Riverside Plaza, Suite 2000 Chicago, IL 60606-6995 Phone: 1-800-366-1655 or 1-800-877-1600 Email:hotline@eatright.org Internet: www.eatright.org Celiac Disease Foundation 13251 Ventura Boulevard, #1 Studio City, CA 91604-1838 Phone: (818) 990-2354 Fax: (818) 990-2379 Email: cdf@celiac.org Internet: www.celiac.org Celiac Sprue Association/USA Inc.
    P.O. Box 31700
    Omaha, NE 68131-0700
    Phone: (402) 558-0600
    Fax: (402) 558-1347
    Internet: www.csaceliacs.org Gluten Intolerance Group of North America
    15110 10th Avenue, SW., Suite A
    Seattle, WA 98166-1820
    Phone: (206) 246-6652
    Fax: (206) 246-6531
    Email:info@gluten.net
    Internet: www.gluten.net Gluten-Free Living (a bimonthly newsletter)
    P.O. Box 105
    Hastings-on-Hudson, NY 10706
    Phone: (914) 969-2018
    Email: gfliving@aol.com

    Links:

    National Digestive Diseases Information Clearinghouse:
    http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/index.htm#1 http://www.ds-health.com/celiac.htm
    http://www.celiac.org/

    Recommended Reading:

    Kids with Celiac Disease: A Family Guide to Raising Happy, Healthy, Gluten-Free Children, Danna Korn, A practical guide for the families of children and teenagers with celiac disease, a chronic, life-long digestive disorder

    Danna Korn shows that it’s possible for kids with celiac disease and their families to lead happy and healthy lives. Includes advice on dealing with the diagnosis, coping with emotional turmoil, and helping your child develop a positive and constructive attitude. Also includes guidance on menu planning, grocery shopping, strategies for proper food preparation, and deciding whether or not the entire family should be gluten-free. There’s even a section on junk food! $17.95 isbn# 1-890627-21-6 WoodbineHouse

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents

    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D. Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Therapies

    Children with Down syndrome typically receive and benefit from physical, occupational and speech therapy, especially in the 0-3 age range. But some parents have found that other therapies can be beneficial also. Learn the basics of physical, occupational and speech therapies as well as other therapies that might help your child reach their physical, occupational and speech goals.

    Physical Therapy 
Occupational Therapy
Speech Therapy
Oral Motor Therapy
    Therapeutic Swimming Programs
    Jojo’s Hope Website

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  • Heart Disease

    One of the most difficult medical issues a child with Down syndrome can face is heart disease. In the not-to-distant past, children with Down syndrome faced bleak outcomes with a diagnosis of heart disease. But today, medical advances, particularly in cardiology and pediatric cardiology have enabled children with Down syndrome and heart disease to live long and happy lives. Please take a look at the web sites and links to learn more about advances in cardiology and what to expect if your child has a diagnosis of heart disease.

    Links:

    PediHeart.org
    American Heart Association

    Recommended Reading:

    Heart Disease in Persons with Down Syndrome
    by B. Marino and S.M. Pueschel. Paul Brookes
Pub, 1996
    “In collaboration with expert physicians from around the world, the authors have compiled a comprehensive medical resource devoted exclusively to congenital heart disease in children and adults with DS. Includes information and recent research findings on cardiac malformations and anomalies, heart and lung pathology, hemodynamic evaluations, and surgical intervention. Ideal for cardiologists, pediatricians, family physicians, educators and therapists.”

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Luekemia

    Links:

    Down syndrome and blood disorders:

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Hirschsprung

    HIRSCHSPRUNG’S DISEASE

    The following is from Dr. Len Leshin’s web site: www.ds-health.com

    Hirschsprung disease is a condition in which a segment of colon directly above the rectum is formed without nerve endings. This condition makes it impossible for that segment to push the stool along into the rectum; the stool backs up just above the rectum and only enters the rectum when enough stool backs up to push the front along (like a train caboose pushing the engine). These babies typically do not pass stool in the first 48 hours of life, and are chronically constipated. Children with DS do have an increased risk of having Hirschsprung disease, and sometimes it can be very difficult for the doctor to tell the difference between Hirschsprung and the normal stooling pattern of a baby with DS. The diagnosis is made by first performing a barium enema on the child, and if that exam is suspicious, confirmed by a rectal biopsy. Treatment is the removal of the segment of colon without the nerve endings (the length is variable from child to child). The traditional treatment was performed in two stages: the first surgery attached the ending of the colon to a specially made opening (colostomy), and then reattachment of the rectum was performed months later. Now, however, many surgeons are removing the involved segment of colon and reattaching the good colon to the rectum in one procedure. This surgery solves the problem of constipation, though children without long segments of colon may have problems with diarrhea and malabsorption for the rest of their lives. Parents of children with Hirschsprung disease may be interested in a parent organization called the Pull-thru Network at http://www.pullthrunetwork.org/.

    Links:

    http://www.ds-health.com/constip.htm

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Thyroid

    Links:

    ds-health

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • E.N.T

    EAR, NOSE AND THROAT CONCERNS

    Links:

    Abstract: Ear, Nose and Throat Disorders in Children with Down Syndrome

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Orthopedic

    Links:

    Musculoskeletal Disorders in Down Syndrome

    Recommended Reading:

    Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents
    Edited by D.C. Van Dyke, M.D., Philip Mattheis, M.D., Susan Schoon Eberly, M.A., and Janet Williams, R.N., Ph.D.
    Much-needed medical and surgical information in easy-to-understand language. Topics include medical decision making, preventative care, anesthesia concerns, heart disease, thyroid problems, skin conditions, gastrointestinal problems, leukemia, reproductive issues, ENT problems, orthopedic conditions, dental issues, and much more. $14.95 isbn# 0-933149-54-9 WoodbineHouse

  • Dual Diagnosis