This nucleus is where your genetic material is stored in what are called genes. These genes determine all your inherited traits. The genes are grouped together in what is called chromosomes. There are normally 23 pairs of chromosomes in each nucleus. For those with Down syndrome, there is a partial or even full extra copy of the 21 st chromosome.
This is what causes the condition. One question many people have is how long do people with Down syndrome live? With this diagnosis comes several common health issues.
In addition, these individuals will have a higher rate of respiratory issues and infections. 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. 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. Regardless of the type of Down syndrome a person may have, a critical portion of the 21st chromosome is present in some or all of their cells.
This additional genetic material alters the course of development and causes the characteristics associated with the syndrome. It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them. Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different.
Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program. Some high school graduates with Down syndrome participate in post-secondary education.
Many adults with Down syndrome are capable of working in the community, but some require a more structured environment. Many children with Down syndrome have health complications beyond the usual childhood illnesses. 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.
Life expectancy had improved in minority populations but not to the degree seen in non-minority populations. Researchers looked at dozens of factors, including prenatal care, prematurity, and congenital heart disease, a common association in those with Down syndrome to see if they could find a cause for this racial disparity difference based on race. Unfortunately, there was not a single trend to explain the difference in life expectancy. Prenatal care alone has significant racial disparities with higher infant mortality rates and higher rates of preterm birth in non-Caucasians.
There is also some evidence for later diagnosis of those with Down syndrome which might contribute to this trend. While the study left researchers with more questions than answers, one thing is certain: this again proves why health equity, which means everyone has a fair opportunity to be healthy, is so important.
The center is dedicated to research that identifies disparities like this one. Researchers in the center are testing ways to reduce disparities and improve health equity so that every child has an equal chance at reaching their best outcomes. If you have a child with Down syndrome and have questions about the care they are receiving, request an appointment with our Down Syndrome Clinic.
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