What’s DSAU all about?
We’re here to help you navigate through the special needs world by sorting out and dealing with your needs and the needs of your child. Read more about our mission statement.
DSAU is published by Sarah Sander, the mother of 29-year-old Moishey who has Down syndrome. Prior to her son’s birth, she had no knowledge or experience in the world of Down syndrome. Contact Sarah, or the DSAU webmaster.
Since it was first published in 1995, Down Syndrome Amongst Us has published 18 issues, the latest of which came out in 2015. Articles from the magazine appear on this web site, organised by magazine section, or issue number.
What is Down syndrome?
Down syndrome is a genetic disorder which affects the 21st chromosome (out of the 23 pairs present in every cell). It is caused when abnormal cell division results in an extra full or partial copy of chromosome 21; hence it is also called Trisomy 21. This extra genetic material causes the birth defects, learning challenges and physical features of Down syndrome. It was first described by John Langdon Down, a British physician, in 1866 but the genetic abnormality was only confirmed in 1959. Of note, Dr. Down’s grandson was born with Down syndrome.
About 0.7% of infants are born with some form of congenital heart disease, ranging from minor defects to complex, life-threatening cardiac malformations. This prevalence is increased to about 40-60% in infants born with Down syndrome.
“My baby has already been seen by her cardiologist, so why are we seeing another cardiologist?” This is a very common question I am asked, when I consult on a child with Down syndrome and pulmonary hypertension. Most infants with Down syndrome (DS) in the current era have been diagnosed prenatally and families do know what to expect with regards to congenital heart disease, hypothyroidism, gut abnormalities etc. But pulmonary hypertension is something that really cannot be predicted with prenatal echocardiography or ultrasound scans or by any other form of routine testing.