DOWN SYNDROME NUR HAMIZA RUZAINI BT HASHIM

WHAT IS DOWN SYNDROME Down syndrome is a genetic condition that causes delays in physical and intellectual development. Occurs in one in every 691 live births. The most frequently occurring chromosomal disorder. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different.

DIAGNOSIS OF DOWN SYNDROME 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 Usually caused by an error in cell division called nondisjunction. 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.

Learning & Development 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.

Learning & Development 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.

Health Issues 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. 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.

Interesting Facts About Down Syndrome Down syndrome is really the only trisomy compatible with life. Only two other trisomies have been observed in babies born alive (trisomies 13 and 18), but babies born with these trisomies have only a 5% chance of surviving longer than one year. In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg rather than the father's sperm. Down syndrome is the most common genetic disorder caused by a chromosomal abnormality. It affects 1 out of every 800 to 1,000 babies. Down syndrome was originally described in 1866 by John Langdon Down. It wasn't until 1959 that a French doctor, named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome 21.

What should one expect for adults with Down syndrome? Due to full inclusion in society, many adults with Down syndrome now live semi-independently, enjoy relationships, work, and contribute to their community. Adults with Down syndrome also age faster than average. The older they become, the higher the risk of developing hypothyroidism, late-onset seizures (tonic- clonic seizures in particular), memory loss, and dementia.memory loss By age 40, many individuals with Down syndrome will show signs of dementia and early-onset Alzheimer's disease. By age 60, 50% to 70% of adults will develop Alzheimer's disease.

What should one expect for adults with Down syndrome? The cause why they age prematurely and why they develop Alzheimer's disease is not entirely clear. At least one on chromosome 21 is thought to be involved in Alzheimer's disease. Since individuals with Down syndrome have three copies of this gene, it is likely that this gene contributes to the increased occurrence of Alzheimer's disease in this population. Detecting dementia and early signs of Alzheimer's disease is a challenge in individuals with Down syndrome who are often already cognitively impaired. It is important for caregivers and doctors to be aware of changes in skills necessary for independence.

Do individuals with Down syndrome work? While some individuals with Down syndrome find suitable paid employment, many others are volunteers, or hold no job. Individuals with Down syndrome who wish to work should receive adequate training and support. This is not always readily available in all communities at present. In addition, employers should be made more aware of the benefits of employing someone with Down syndrome.

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