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Down Syndrome Information

Down syndrome or trisomy 21 is a genetic condition resulting from the presence of all or part of an extra 21st chromosome. Down syndrome is characterized by a combination of major and minor abnormalities of body structure and function. Among features present in nearly all cases are impairment of learning and physical growth, and a recognizable facial appearance usually identified at birth. Many other organ systems may be affected as well. It is named after John Langdon Down, the British doctor who first described it in 1866.

While most children with Down syndrome have a lower than average cognitive function, some have earned college degrees with accommodations, and nearly all will learn to read, write and do simple mathematics. The common clinical features of Down syndrome include any of a number of features that also appear in people with a standard set of chromosomes. They include a simian crease (a single crease across one or both palms), almond shaped eyes, shorter limbs, heart and/or gastroesophageal defects, speech impairment, and perhaps a higher than average risk of incidence of Hirschsprung's disease. Young children with Down syndrome are also more prone to recurrent ear infections and obstructive sleep apnea.

Early childhood intervention, screening for common problems, such as thyroid functioning, medical treatment where indicated, a conducive family environment, vocational training, etc., can improve the overall development of children with Down syndrome. On the one hand, Down syndrome shows that some genetic limitations cannot be overcome. On the other, it shows that education can produce excellent progress whatever the starting point. The commitment of parents, teachers, and therapists to individual children has produced previously unexpected positive results.

Health Blogs

There are so many tests involved with pregnancies! The first one is the ovulation test, then the pregnancy test, then the blood test…and that’s just the beginning. There are tests you will undergo from the time you decide to start trying all the way up to delivery. Some are more uncomfortable than others (like the amniocentesis, for ... Read More »
A rather interesting but concerning study to be published in next month’s issue of Pediatrics found the prevalence of children with developmental disabilities increased by 17% between 1997 and 2008... a number which translates to nearly 10 million of U.S. children in 2008 having a developmental disability. The CDC used data from the ... Read More »
Over the years, one never ending parental concern that keeps coming up is whether their child is reaching his/her developmental milestones at a "normal" rate. In fact, when my children were younger, I even found myself wondering why my son didn’t have any clear words at 15 months of age (while my older daughter had quite a handful by then) or ... Read More »

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