Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups. Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21."
Babies with Down syndrome often have hypotonia, or poor muscle tone. Because they have a reduced muscle tone and a protruding tongue, feeding babies with Down syndrome usually takes longer. Mothers breast-feeding infants with Down syndrome should seek advice from an expert on breast feeding to make sure the baby is getting sufficient nutrition.
Hypotonia may affect the muscles of the digestive system, in which case constipation may be a problem. Atlantoaxial instability, a malformation of the upper part of the spine located under the base of the skull, is present in some individuals with Down syndrome. This condition can cause spinal cord compression if it is not treated properly.
Medical care for infants with Down syndrome should include the same well-baby care that other children receive during the first years of life, as well as attention to some problems that are more common in children with Down syndrome. If heart, digestive, orthopedic or other medical conditions were identified during the neonatal period, these problems should continue to be monitored.
Children with Down syndrome may be developmentally delayed. A child with Down syndrome is often slow to turn over, sit, stand, and respond. This may be related to the child's poor muscle tone. Development of speech and language abilities may take longer than expected and may not occur as fully as parents would like. However, children with Down syndrome do develop the communication skills they need.
Parents of other children with Down syndrome are often valuable sources of information and support. Parents should keep in mind that children with Down syndrome have a wide range of abilities and talents, and each child develops at his or her own particular pace. It may take children with Down syndrome longer than other children to reach develop mental milestones, but many of these milestones will eventually be met. Parents should make a concerted effort not to compare the developmental progress of a child with Down syndrome to the progress of other siblings or even to other children with Down syndrome.
Questions and Answers about Down Syndrome
- Is Down syndrome a rare genetic disorder?
Down syndrome occurs in 1 in 800 births.
- Do only older women give birth to babies with Down syndrome?
Researchers have established that the likelihood that a reproductive cell will contain an extra copy of chromosome 21 increases dramatically as a woman ages. Therefore, an older mother is more likely than a younger mother to have a baby with Down syndrome, but older mothers account for only about 9% of all live births each year and 25% of Down syndrome births.
- Are all people with Down syndrome severely retarded?
Most people with Down syndrome have IQ's that fall in the mild to moderate range of retardation. Some are so mildly affected that they live independently and are gainfully employed.
- Can people with Down syndrome receive proper care at home?
Home-based care and community living give them the opportunity to socialize and benefit from such interactions.
- Should all children with Down syndrome be placed in special education classrooms?
While federal laws have been established to insure that all handicapped children have access to public education, children with Down syndrome can and have been included into a regular classroom.
- Is there a cure for Down syndrome?
Researchers have identified the genes that cause the characteristics of Down syndrome and are working to further develop mouse models, at varying stages of development, in order to enhance their basic understanding of Down syndrome and facilitate the development of effective interventions and treatment strategies.
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