What Causes Down’s Syndrome?
Down’s syndrome is a genetic disorder which occurs in one of every 800 live births in the United States. Named after John Langdon Down a British physician who first described the syndrome in 1866, the disorder is one of the most common genetic causes of mild to moderate developmental and intellectual delays and is associated with certain medical problems. Down’s syndrome crosses all social, gender and racial barriers and there are things every parent needs to know when facing a future with a child having the condition.
Down syndrome is a human chromosomal disorder, most human cells contain 23 chromosomes, and half of each comes from either parent. Only human reproductive cells have 23 individual chromosomes which are identified as an XX pair in females and XY which are present in males, the chromosomes are numbered 1 through 22. Though 92% of cases of Down syndrome are due to the presence of an extra chromosome 21, there are other genetic variations, which include:
- Trisomy 21: three copies of chromosome 21 are present in all cells.
- Mosaic trisomy 21: similar to trisomy 21, but the extra chromosome 21 is only present in some of the cells and not all.
- Robertsonian translocation: the long arm of chromosome 21 is attached to another chromosome and this type is found in 2% of all cases and is also referred to as familial Down syndrome.
Individuals with Down’s syndrome will also exhibit certain facial features which include abnormally small chin, almond shaped eyes, protruding tongue, upward slanting separation between the upper and lower eyelids, shorter arms and legs, poor muscle tone, larger than normal space between the big and second toes and a single Simian crease running across the palms. Health concerns for those with Down’s syndrome include chronic ear infections, obstructive sleep apnea, thyroid problems, congenital heart defects and gastroesophageal reflux disease.
Diagnosing Down’s syndrome
There are many ways in which Down’s syndrome can be diagnosed, particularly; there are two types of tests which can be performed before an infant is ever born, screening and diagnostic tests. Prenatal testing will provide an estimate of the baby’s chances of having Down’s syndrome and only involves probability statistics. Diagnostic testing is more direct and can provide a physician with a definitive diagnosis with 100% accuracy.
Most types of screening tests involve an ultrasound and blood tests, which are performed to measure quantities of various different things in the mother’s blood. Together with the mother’s age, screening tests are used to make an estimate of the chances of a child being born with Down’s syndrome. Diagnostic tests include purcutaneous umbilical cord blood sampling (PUBS), chorionic villus sampling (CVS) and amniocentesis are the only ways in which a definitive diagnosis can be made using fetal and maternal cells and studying the materials.
Down’s syndrome that was not diagnosed before birth can also be identified at birth by the child displaying certain physical characteristics of the disorder. If a baby is born with low muscle tone, deep creases in the palms of the hand, a moderately flattened facial profile and upward slanting eyes; it could be related to Down’s syndrome. However, even with all of these features present, the child will still have to have a karyotype chromosomal analysis performed to confirm a diagnosis.
Parenting a Child with Down’s syndrome
The diagnosis of Down’s syndrome in an infant is something no parent wants to hear; it is heartbreaking and can be overwhelming. While there are certain unknowns when it comes to Down’s syndrome, parents taking a proactive approach can seek early intervention, occupational, speech and developmental therapies and other alternatives to make life better for the child. What parents need to know about Down’s syndrome is that while the disorder is challenging and there will be obstacles, the condition does not have to rob the child of having a meaningful quality of life and a chance at a happy future.
Down’s syndrome Awareness Week, June 2nd-June 8th, United Kingdom
In the United Kingdom, June 2-8, each year is highlighted as Down’s syndrome Awareness Week. The goal of the week is to empower those with Down’s syndrome, along with friends, family, care providers and others, to raise the awareness of basic human rights, highlight human rights abuses and discrimination against those with the disorder. Awareness Week puts the focus on families and care providers to give people with Down’s syndrome knowledge about rights and what to do to ensure that the individual receives the care, respect and dignity as others would receive.
People with Down’s syndrome deserve the same basic human rights as anybody else and it is the hope of the Down syndrome Association to empower people to get better services, to make a difference in the life of those with the disorder and promote lobbying medical professionals and local authorities to ensure rights are not infringed. The association has also put together an easy to read and understand booklet called “You are Human,” which is designed to promote educational information about Down’s syndrome and inform the public, healthcare providers and others about the importance of not discriminating or treating someone with the disorder any differently than someone that does not.
A diagnosis of Down’s syndrome can be a parent’s worst nightmare come true, that is until becoming educated and knowledgeable about the disorder. Though Down’s syndrome children will have a variety of unique challenges and obstacles to overcome in life, this does not mean the individual should be treated any differently than anybody else. By early diagnosis and incorporating many different therapies and rehabilitative services, a child with Down’s syndrome can have a high quality of life.
Parents of a Down’s syndrome child need to realize early on that while there will be certain things the child will have difficulty doing, it is important to be supportive, encouraging and patient. While it may not seem like it right now, an infant with Down’s syndrome can have the same quality of life as any other may have and the future outlook can remain positive, depending on the approach parents take to help the child achieve their full potential in life.