DOWN SYNDROME
Down Syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down Syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down Syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down Syndrome is that they are more like others than they are different.
Diagnosis: Down Syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down Syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.
Cause: Down Syndrome is usually caused by an error in cell division called nondisjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down Syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age.
Health Issues: Many children with Down Syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down Syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down Syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down Syndrome is 55 years, with many living into their sixties and seventies.
Down Syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down Syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down Syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down Syndrome is that they are more like others than they are different.
Diagnosis: Down Syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down Syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.
Cause: Down Syndrome is usually caused by an error in cell division called nondisjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down Syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age.
Health Issues: Many children with Down Syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down Syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down Syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down Syndrome is 55 years, with many living into their sixties and seventies.
