Showing posts with label Genetic disorder. Show all posts
Showing posts with label Genetic disorder. Show all posts

Jul 8, 2011

What is Rett Syndrome

What is Rett syndrome?

Rett syndrome is a disorder of brain development that occurs almost exclusively in girls. After 6 to 18 months of apparently normal development, girls with the classic form of Rett syndrome develop severe problems with language and communication, learning, coordination, and other brain functions. 
Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). 
Other signs and symptoms can include breathing abnormalities, seizures, an abnormal curvature of the spine (scoliosis), and sleep disturbances.
Researchers have described several variants of Rett syndrome with overlapping signs and symptoms. The atypical forms of this disorder range from a mild type, in which speech is preserved, to a very severe type that has no period of normal development. A form of Rett syndrome called the early-onset seizure variant has most of the characteristic features of classic Rett syndrome, but also causes seizures that begin in infancy.

Dec 20, 2010

Important aspects about Down Syndrome

  • What is Down Syndrome?
        Down syndrome (also called Trisomy 21  ) is a genetic disorder that occurs in approximately 1 of 800 live births. It is the leading cause of cognitive impairment.
  • Down syndrome is associated with mild to moderate learning disabilities, developmental delays, characteristic facial features, and low muscle tone in early infancy. 
  • Many individuals with Down syndrome also have heart defects, leukemia, early-onset Alzheimer's disease, gastro-intestinal problems, and other health issues. The symptoms of Down syndrome range from mild to severe.
  • Life expectancy for individuals with Down syndrome has dramatically increased over the past few decades as medical care and social inclusion have improved.
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