Down's Syndrome | Symptoms & Causes | Diagnosis

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What is Down's Syndrome?

A common birth defect that is usually due to an extra chromosome 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic facial appearance, and multiple malformations. It occurs most frequently in children born to mothers over age 35. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (partially undeveloped intestines), and a minor but significant risk of acute leukemia.
Treatment for Down syndrome includes early intervention to develop the mental and physical capacities to their utmost, speech therapy, and surgery, as needed, to repair malformations.
About one-half of children with Down syndrome have heart defects, most often holes between the two sides of the heart (septal defects). With appropriate intervention, most children with Down syndrome live active, productive lives into at least middle age. Most are mildly to moderately retarded, although some have IQs in the low'normal range. Unfortunately, most adults with Down syndrome eventually develop Alzheimer's disease as they grow older.


Down syndrome is caused by having 3 copies of the genes on chromosome twenty one, instead of the same old 2. the oldsters of the affected individual are usually genetically traditional. those that have one kid with birth defect have less than 1% risk of getting a second kid with the syndrome, if each folks are found to own traditional karyotypes.The additional body content can arise in many ways.

Diagnosis & Tests

Before birthWhen screening tests predict a high risk of birth defect, a a lot of invasive diagnostic test (amniocentesis or chorionic villus sampling) is required to verify the diagnosis. If birth defect happens in one in five hundred pregnancies and also the test used encompasses a five-hitter false-positive rate, this means, of twenty six girls who check positive on screening, just one can have birth defect confirmed. If the screening check encompasses a two false-positive rate, this suggests one in all eleven who check positive on screening have a fetus with DS. centesis and villus sampling are more reliable tests, however they increase the danger of miscarriage between 0.5 and 1%. the danger of limb issues could also be raised within the offspring if chorionic villus sampling is performed before ten weeks. the danger from the procedure is bigger the earlier it's performed, therefore amniocentesis isn't counseled before fifteen weeks age and villus sampling before ten weeks age.After birthThe diagnosing will usually be suspected supported the child's physical look at birth. AN analysis of the child's chromosomes is required to verify the diagnosing, and to work out if a translocation is present, as this could facilitate verify the risk of the child's parents having any kids with birth defect. folks usually would like to understand the potential diagnosis once it's suspected and don't wish pity.

Prevention & Risk Factors

UltrasoundUltrasound imaging may be accustomed screen for trisomy. Findings that indicate hyperbolic risk once seen at fourteen to twenty four weeks of gestation embrace atiny low or no bone, giant ventricles, nuchal fold thickness, associated an abnormal right subclavian artery, among others. The presence or absence of the many markers is more correct. hyperbolic fetal nuchal translucency (NT) indicates associate hyperbolic risk of trisomy finding out seventy five

Treatments & Therapies

Hearing aids or different amplification devices will be helpful for language learning in those with hearing disorder. therapy is also helpful and is usually recommended to be started around 9 months of age. As those with congenital abnormality generally have sensible hand-eye coordination, learning linguistic communication is also attainable. Augmentative and different communication strategies, like pointing, body language, objects, or photos, ar usually used to facilitate with communication. behavioral problems and psychological state ar generally managed with counsel or medications.Education programs before reaching school age is also helpful. School-age kids with down syndrome could take pleasure in inclusive education (whereby students of differing talents ar placed in categories with their peers of constant age), provided some changes ar created to the program. proof to support this, however, isn't terribly sturdy. within the u. s., the people with Disabilities Education Act of 1975 needs public colleges typically to permit group action by students with congenital abnormality.Individuals with down syndrome could learn higher visually. Drawing could facilitate with language, speech, and reading skills. kids with down syndrome still usually have problem with sentence structure and synchronic linguistics, further as developing the power to talk clearly. many styles of early intervention will facilitate with cognitive development. Efforts to develop motor skills embrace physiotherapy, speech and language medical care, and physical therapy. physiotherapy focuses specifically on motor development and teaching kids to act with their surroundings. Speech and language medical care will facilitate prepare for later language. Lastly, physical therapy will facilitate with skills required for later independence.