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A diagnosis of Down syndrome after birth is often based initially on physical signs of the syndrome. But because individuals with Down syndrome may not have these symptoms, and because many of these symptoms are common in the general population, the health care provider will take a sample of the baby’s blood to confirm the diagnosis.
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2023年11月22日 · Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome are at risk for several other health conditions.
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Children with Down syndrome are more likely to have epilepsy, a condition characterized by seizures, than those without Down syndrome. The risk for epilepsy increases with age, but seizures usually occur either during the first 2 years of life or after the third decade of life.
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2024年2月20日 · Down Syndrome Consortium The Consortium is a public–private collaboration that provides a forum for promoting the NIH Research Plan on Down Syndrome (2007) (PDF 351 KB) and fosters the exchange of information on biomedical and biobehavioral research on the syndrome.
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2023年11月30日 · Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome also have some distinct physical features, such as a flat-looking face, and they are at risk for a number of other health conditions.
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Down syndrome is the most frequent chromosomal cause of mild to moderate intellectual disability, and it occurs in all ethnic and economic groups. 2 Researchers know some, but not all, of the risk factors for Down syndrome. For example, parents who have a 3
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2012年7月14日 · Turner syndrome also can be diagnosed during pregnancy by testing the cells in the amniotic fluid. Newborns may be diagnosed after heart problems are detected or after certain physical features, such as swollen hands and feet or webbed skin on the neck, are noticed.
1998年4月1日 · The screening technique makes use of two substances, or markers, for Down syndrome that tend to appear in abnormal amounts in the blood of women carrying fetuses with Down syndrome. Down syndrome, also sometimes referred to as Trisomy 21, is a genetic abnormality resulting from either an extra copy of chromosome 21 or from an extra portion of the long arm of the chromosome.
2024年10月23日 · The NIH INCLUDE Project launched a new long-term study, called the Down Syndrome Cohort Development Program, to observe and track health data of people with Down syndrome from birth to adulthood. Item of Interest: NIH establishes $20 million program to study Down syndrome from birth to adulthood | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
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Cerebral palsy, 5 Down syndrome, Fragile X syndrome, and autism spectrum disorders (ASDs) are examples of IDDs related to problems with the nervous system. Sensory system These disorders affect the senses (sight, hearing, touch, taste, and smell) or how the brain processes or interprets information from the senses.
