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Down Syndrome
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What is Down Syndrome?
Down syndrome is a genetic disorder that causesa lifelongIntellectualDisability,developmental delays and otherproblemsDownsyndrome varies in severity, so developmental problems range from moderate toseriousDown syndrome is the most common genetic cause of learning disabilities inchildrenIncreased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Downsyndrome
Human cells normally contain 23 pairs ofchromosomes—one chromosomein each pair comes fromthefather, the other fromthe motherDown syndrome results when one of three types of abnormal cell division involving chromosome 21occursAllthree cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of DownsyndromeThethree genetic variations that can cause Down syndrome include:Trisomy21Mosaic DownsyndromeTranslocation Downsyndrome
Trisomy 21
More than 90 percent of the time, Down syndrome is caused by trisomy21Achild with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or hercellsThisform of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the eggcell
Mosaic Down syndrome
In this rare form of Down syndrome, children have some cells with an extra copy of chromosome21Thismosaic of normal and abnormal cells is caused by abnormal cell division afterfertilization
Translocation Downsyndrome
Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or atconceptionChildrenwith translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to thetranslocatedchromosomeThis formof Down syndrome isuncommon
Nature vs. Nurture
There arenoknown behavioral or environmental factors that cause Downsyndrome
Is it inherited?
Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during the development of the egg, sperm orembryoTranslocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about4% ofchildren with Down syndrome have translocation. And only about half of these children inherited it from one of theirparents
Risk Factors
Some parents have a greater risk of having a baby with DownsyndromeRiskfactors include:Advancing maternal age.A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far morebabiesHaving had one child with Down syndrome.Typically, a woman who has one child with Down syndrome has about a1% chanceof having another child with DownsyndromeBeing carriers of the genetic translocation for Down syndrome.Both men and women can pass the genetic translocation for Down syndrome on to theirchildren
Common Symptoms
A distinctfacialappearance:Flattened facial featuresSmall headShort neckProtruding tongueUpward slanting eyes, unusual for the child's ethnic groupUnusually shapedearsPoor muscle toneBroad, short hands with a single crease in the palmRelatively short fingersExcessiveflexibility
Common Symptoms Continued…
Infants with Down syndrome may be of average size, but typically they grow slowly and remain shorter than other children of similarageIngeneral, developmental milestones, such as sitting and crawling, occur at about twice the age of children withoutimpairmentChildrenwith Down syndrome also have some degree ofIntellectual Disability,most often in the mild to moderaterange
Children with Down syndrome can have a variety of complications, some of which become more prominent as they get older, including:Heartdefects. Approximatelyhalf the children with Down syndrome are born with some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy.Leukemia. Youngchildren with Down syndrome are more likely to develop leukemia than are other children.Infectiousdiseases. Becauseof abnormalities in their immune systems, those with Down syndrome are much more susceptible to infectious diseases, such aspneumonia
Complications Continued…
Dementia.Later in life, people with Down syndrome have a greatly increased risk of dementia. Signs and symptoms of dementia often appear before age 40 in people with Down syndrome. Those who have dementia also have a higher rate ofseizuresSleep apnea.Because of soft tissue and skeletal alterations that lead to the obstruction of their airways, children with Down syndrome are at greater risk of obstructive sleepapneaObesity.People with Down syndrome have a greater tendency to be obese than does the generalpopulationOther problems.Down syndrome may also be associated with other health conditions, including gastrointestinal blockage, thyroid problems, early menopause, seizures, hearing loss, premature aging, skeletal problems and poorvision
Life spans have increased dramatically for people with DownsyndromeIn1929, a baby born with Down syndrome often didn't live to age10Today, someone with Down syndrome can expect to live to 50 and beyond, depending on the severity of his or her healthproblems
Early Intervention
Early intervention for infants and children with Down syndrome can make a difference in realizing their potential abilities and in their quality oflifeEarly interventionprogramsvary from statetostate,but they usually involve therapists and special educators whose goal is tohelp the babydevelop motor skills, language, social skills and self-helpskills
“We’re More Alikethan Different”
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