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WHAT IS DOWN SYNDROME?
Down syndrome is a genetic disorder that includes a combination of birth defects including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies. It generally is caused by an extra chromosome, the structures in cells that contain hereditary information. In this country, there are approximately 350,000 individuals with Down syndrome, according to the National Down Syndrome Society. Life expectancy among adults with Down syndrome is about 55 years, though life span varies.
WHAT CAUSES DOWN SYNDROME?
Normally, each egg and sperm cell contains 23 chromosomes. The union of these creates 23 pairs, or 46 in total. Sometimes, an accident occurs when an egg or sperm cell is forming, causing it to have an extra chromosome number 21. When this cell contributes the extra chromosome 21 to the embryo, Down syndrome results. The features of Down syndrome result from having this extra chromosome 21 in each of the body's cells. This is called trisomy 21 because of the presence of three number 21 chromosomes. Occasionally, the extra chromosome 21 is attached to another chromosome in the egg or sperm; this may result in what is called translocation Down syndrome. This is the only form of Down syndrome that can be inherited from a parent, who has are arrangement of chromosome 21 called a balanced translocation that does not affect his or her health. Rarely, a form of Down syndrome called mosaic Down syndrome may occur when an accident in cell division occurs after fertilization. Affected individuals have some cells with an extra chromosome 21 and others with the normal number.
DO CHILDREN WITH DOWN SYNDROME HAVE SPECIAL HEALTH PROBLEMS?
From 40 to 50 percent of babies with Down syndrome have heart defects. Some defects are minor and may be treated with medications, while others may require surgery. All babies with Down syndrome should be examined by a pediatric cardiologist, a health care provider who specializes in heart diseases of children, and have an echocardiogram in the first 2 months of life so that any heart defects can be treated. About 10 percent of babies with Down syndrome are born with intestinal malformations that require surgery. More than 50 percent have some visual or hearing impairment. Common visual problems include crossed eyes, near or far sightedness and cataracts. Most can be improved with glasses, surgery or other treatments. A pediatric ophthalmologist should be consulted within the first year of life. Children with Down syndrome may have hearing loss due to fluid in the middle ear, a nerve defect or both. All children with Down syndrome should have regular vision and hearing examinations so any problems can be treated before they hinder development of language and other skills. Children with Down syndrome are at increased risk of thyroid problems and leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Children with the disorder should receive regular medical care including evaluation for childhood immunizations.
DOWN SYNDROME ANOMALIES IN ADDITION TO CHROMOSOME 21
( Images in Paediatric Cardiology 2002;13:3-11 - Registro Siciliano Malformazioni Congenite, Genetica Medica, Dipartimento di Pediatria, Università di Catania)
Gastrointestinal Anomalies: Gastrointestinal anomalies are frequently associated with Down's syndrome (12 percent) and the more common are duodenal atresia, annular pancreas and Hirschsprung disease. Anorectal anomalies are often associated with Down's syndrome. A high percentage of Down's syndrome subjects may have celiac disease (7-16 percent) and screening for celiac disease with antigliadin and antiendomysial antibodies should be performed in all Down's syndrome children after the start of gluten diet. The higher incidence of gastrointestinal problems may be due to anatomical, functional, or nutritional disorders, and may significantly affect the growth and development of Down's syndrome children.
Central Nervous System: Atlantoaxial instability - This is due to increased mobility at the atlantoaxial joint, probably due cervical vertebral or ligaments anomalies. It is recognized in about 15 percent of cases and is usually asymptomatic and diagnosed by cervical spine radiography. Symptomatic instability results from subluxation with injury of the spinal cord and neurological manifestations.
Epilepsy: Epilepsy occurs in about 5-10 percent of Down's syndrome individuals. The treatment is standard.
Autism: Autism is probably not one single condition, but is instead a common cluster of symptoms, with a number of different causes. Some children with Down's syndrome may meet the criteria for autism. The differential diagnosis is important and indeed, many signs are part of syndrome and not due to autism.
Alzheimer's Disease: Alzheimer disease is a condition that affects older people with or without Down's syndrome. Down's syndrome is associated with early onset Alzheimer's disease, and one type of brain change linked to Alzheimer's disease, brain plaques, are associated with abnormalities in a gene on chromosome 21.
Immune System: Some children with Down's syndrome have immune system disorders which, if not treated, can lead to serious chronic illness and poor health. Because these children are at higher risk for chronic hepatitis, the hepatitis B immunization is recommended along with the standard immunization protocols. Moreover the immune system in children with Down's syndrome matures more slowly, predisposing to a higher incidence of upper respiratory tract infections.
Endocrine Related Problems: Thyroid disease - The most common endocrine disorder in people with Down's syndrome concerns the thyroid gland. About 15 percent of these individuals have problems of hypo or hyper thyroidism. The reason for this is uncertain but is believed to be related to the propensity of these individuals to develop autoantibodies.
Diabetes: The prevalence of insulin-dependent diabetes mellitus in Down's syndrome patients is higher than in the general population. This has been lifestyle related but may also be autoantibody mediated.
Stature: Many children with chromosomal disorders, including Down's syndrome, have small stature. Special growth charts have been developed for children with Down's syndrome. Treating children with Down's syndrome with human growth hormone is controversial, both for stature benefits and for possible risks accompanying growth hormone therapy.
Reproductive problems: Down's syndrome male are usually not fertile and this is probably due to low testosterone levels. In female, ovarian dysfunction is probably responsible for the fertility problems with additional involvement of the hypothalamic-pituitary-ovarian-adrenal axis.
Eye Anomalies: Individuals with Down's syndrome have a higher incidence of functional and structural abnormalities of the eyes. Several ocular anomalies have no functional significance (e.g. Brushfield's spots, epicanthal folds, etc), but there are some important anomalies (e.g. congenital glaucoma, cataracts, nystagmus, refractive errors, etc) that have important functional and therapeutic significance. Myopia is found in 30 percent of school aged children, strabismus in 27 percent and cataracts in 15 percent.
Skin Conditions: There are no disorders of the skin or nails that occur only in people with Down's syndrome, however several conditions are more common than in general population. Some morphological conditions, such as loose skin at the back of the neck, fissured tongue, and changes in skin color due to cutis marmorata and acrocyanosis, may be seen in infants. Others, such as fungal infections, seborrheic dermatitis, cheilitis, and so on are common problems that can be easily identified and treated. Less common conditions, including alopecia areata, vitiligo and severe atopic dermatitis are described.
Ear, Nose And Throat: Children with Down's syndrome have a higher incidence of chronic otitis media than other children, with more anatomic anomalies of the eustachian tube. This is shaped differently and collapses more easily. These individuals may also have external ear canal stenosis, which causes hearing loss by collapse of the canal and by cerumen that obstructs more easily. The reported incidence of hearing loss is between 38-78 percent but an aggressive approach can greatly diminish this value. Many children with Down's syndrome have also enlarged tonsils and adenoids and the surgical approach to this problem is controversial.
Orthopedic Problems: There are certain characteristics of the muscles and bones of Down's syndrome children that contribute to musculoskeletal problems. Individuals with Down's syndrome appear to have differences in their bones and in the structure of their connective tissue and, in addition, their muscle tone can be low with hypotonia. Other than atlantoaxial instability that was discussed before, the most common musculoskeletal disorders includes genu valgum, hip instability, pes planus, scoliosis and frequent joint dislocation.
Hematology: Leukemia - The reported relative risk for acute leukemia in Down's syndrome patients ranges 10-20 times higher than for non-Down's individuals. Leukemia in patients with Down's syndrome occurs mostly during the first 4 years of life and it has been assumed that the increased risk of leukemia extends into adulthood. Little is known about the mechanism leading to the increased risk of leukemia in these individuals. Several genes on chromosome 21 have been found to be disrupted in leukemia. Since only a small proportion of Down's syndrome patients develop leukemia, non-genetic factors may also be of importance. The trisomy 21 predisposition to leukemia seems to be just the first hit in the multistep process leading to leukemia.
Oral And Dental Development: Individuals with Down's syndrome often have smaller jaws and palate, with poor alignment of the jaws. The size, surface, and position of the tongue may also be different. They also have a higher incidence of clefting of the soft palate, which can affect swallowing and speech. No specific delay in teeth eruption is present.
CAN DOWN SYNDROME BE CURED OR PREVENTED?
There is no cure for Down syndrome. We are not certain how to prevent the chromosomal accident that causes Down syndrome. However, a recent study suggests that some women who have had a baby with Down syndrome had an abnormality in how their bodies metabolize (process) the B vitamin folic acid. If confirmed, this finding may provide yet another reason why all women who might become pregnant should take a daily multivitamin containing 400 micrograms of folic acid (which has been shown to reduce the risk of certain birth defects of the brain and spinal cord).
HOW SERIOUS IS THE MENTAL RETARDATION?
The degree of mental retardation varies widely, from mild to moderate to severe. However, most fall within the mild to moderate range, and studies suggest that, with proper intervention, fewer than 10 percent will have severe mental retardation. There is no way to predict the mental development of a child with Down syndrome based on physical features.
WHAT CAN A CHILD WITH DOWN SYNDROME DO?
Children with Down syndrome usually can do most things that any young child can do, such as walking, talking, dressing and being toilet trained. However, they generally do these things later than other children. The exact age that these developmental milestones will be achieved cannot be predicted. However, early intervention programs beginning in infancy can help these children achieve their developmental milestones sooner.
CAN A CHILD WITH DOWN SYNDROME GO TO SCHOOL?
Yes. There are special programs beginning in the preschool years to help children with Down syndrome develop skills as fully as possible. Along with benefiting from early intervention and special education, many children can be fully integrated in the regular classroom. The outlook for these children is far brighter than it once was. Many will learn to read and write and participate in diverse childhood activities both at school and in their neighborhoods. While there are special work programs designed for adults with Down syndrome, many people with the disorder can hold regular jobs. Today, an increasing number of adults with Down syndrome live semi-independently in community group homes where they take care of themselves, participate in household chores, develop friendships, partake in leisure activities and work in their communities.
WHAT DOES A CHILD WITH DOWN SYNDROME LOOK LIKE?
A child with Down syndrome may have eyes that slant upward and small ears that may fold over a little at the top. His/her mouth may be small, making the tongue appear large and protruding. His/her nose also may be small, with a flattened nasal bridge. Some babies with Down syndrome have short necks and small broad hands with short fingers, wide space between first and second toes. The child or adult with Down syndrome is often short and has unusual looseness of the joints. Most children with Down syndrome will have some, but not all, of these features.
WHO HAS THE GREATEST RISK OF HAVING A BABY WITH DOWN SYNDROME?
Parents who already have had a baby with Down syndrome, mothers or fathers who have a rearrangement involving chromosome 21, and mothers over 35 years old are at greatest risk. The risk of Down syndrome increases with age, from about 1 in 1,250 for a woman at age 25, to 1 in 1,000 at age 30, 1 in 400 at age 35, and 1 in 100 at age 40. However, about 80 percent of babies with Down syndrome are born to women who are under age 35, as younger women have far more babies.
CAN DOWN SYNDROME BE DIAGNOSED BEFORE THE CHILD IS BORN?
Yes. Prenatal testing using amniocentesis or a newer test called chorionic villus sampling (CVS) can diagnose or, far more likely, rule out Down syndrome. As both procedures carry a small risk of infection and/or miscarriage, midwives and health care providers generally offer them only to women at increased risk of having a baby with chromosomal or certain other birth defects. A midwife or health care provider may suggest amniocentesis if a woman receives an abnormal result on a blood test (often called the triple screen; human choronic gonadotropin test, unconjugated estriol test or alpha-fetoprotein assessment) done around the 16th week of pregnancy. However, this blood test does not provide a conclusive diagnosis: it simply means that additional tests such as amniocentesis should be considered. Ultrasound also can detect many cases of Down syndrome. Any family with a mentally retarded child or a child with other birth defects can discuss these tests with their midwife or health care provider or other health professional. He or she may refer the family for genetic counseling to learn more about their particular problem and the risks involved in having another child.
WHAT IS THE RISK THAT PARENTS OF A CHILD WITH DOWN SYNDROME WILL HAVE ANOTHER AFFECTED CHILD?
In general, in each subsequent pregnancy, the chance of having another baby with Down syndrome is 1 percent plus whatever additional risk a mother has, based on her age. If, however, the first child has translocation Down syndrome, the chance of having another child with Down syndrome maybe greatly increased. After birth, the health care provider or midwife may takes a blood sample from a baby suspected of having Down syndrome to do a chromosomal analysis (called a karyotype). This determines if the baby has Down syndrome and what the underlying chromosomal abnormality is. This information is important in determining the risk in future pregnancies. The midwife or health care provider may refer parents to a genetic counselor who can explain the results of chromosomal tests in detail, including what the recurrence risks may be in another pregnancy.
CAN PEOPLE WITH DOWN SYNDROME MARRY?
Some people with Down syndrome marry. Although there have been rare exceptions, men with Down syndrome cannot father a child. In any pregnancy, a woman with Down syndrome has a 50-50 chance of conceiving a child with Down syndrome, but many affected fetuses are miscarried.
IS RESEARCH BEING CONDUCTED ON DOWN SYNDROME?
Research organizations, such as the March of Dimes, have grantees investigating why errors in chromosome division occur, in the hope of someday preventing Down syndrome and other birth defects caused by abnormalities in the number or structure of chromosomes. Other researchers are seeking to improve the outlook for children with Down syndrome by, for example, developing improved language intervention programs to help these children communicate more easily.
WHERE CAN FAMILIES AFFECTED BY DOWN SYNDROME GET ADDITIONAL INFORMATION?
More information and links to resources can be obtained from:
MoonDragon's Down Syndrome Information Page
There are organizations across the country that provide information and support for families with children affected by Down syndrome. Two are:National Down Syndrome Society
666 Broadway
New York, NY 10012
1-800-221-4602 or (212) 460-9330
www.ndss.org
National Down Syndrome Congress
7000 Peachtree-Dunwoody Road N.E.
Building 5, Suite 100
Atlanta, GA 30328
1-800-232-NDSC or (770) 604-9500
REFERENCES
Hassold, T., Patterson, D. (Eds.). Down Syndrome: A Promising Future, Together. New York: Wiley Liss, 1998.
James, S., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. American Journal of Clinical Nutrition, volume 70, number 4, October 1999, pages 429-430.
National Down Syndrome Society, About Down Syndrome, New York,N.Y., December 1999.
Saenz, Rebecca. Primary care of infants and young children with Down syndrome, American Family Physician, volume 59, number 2, January 15, 1999, pages 381-390.
Stray-Gunderson, K. Babies with Down Syndrome. Rockville, M.D., Woodbine House, 1995.
For more information and answers to questions:
Call: 888-MODIMES
Visit: www.modimes.org
To obtain brochure information:
Call: 1-800-367-6630
Or write:
March of Dimes
P.O. Box 1657
Wilkes-Barre, PA 18703
RESOURCE LINKS
MoonDragon's Down Syndrome Information
MoonDragon's Down Syndrome Overview
MoonDragon's Down Syndrome Alternative Approaches & Nutrition
Riverbend Down Syndrome Parent Support Group
Canadian Down Syndrome Society (CDSS)
Welcoming Babies With Down Syndrome
March of Dimes
Washington State Genetics Documents
Photos from Diagnosis in color Obstetrics and Gynecology by Symonds and Macpherson
And from Images in Paediatric Cardiology 2002;13:3-11.
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