What is it? Down Syndrome also known as DS, Downs or Trisomy 21 – it is a condition that effects the way a child develops mentally and physically. It occurs in approximately 1 in 700 live births. Children with Downs have 47 chromosomes instead of the usual 46. This is the most frequent chromosomal disorder affecting children; it is not related to race, religion, nationality or socioeconomic status. Children with Downs are more like other children then they are different. The effects of Downs can vary widely from child to child.
What causes it?
At the time of conception, the baby inherits the genetic information from the parents in the form of 46 chromosomes, 23 from the mother and 23 from the father, somewhere in there a child receives an extra chromosome 21 for a total of 47 chromosomes. It is this extra chromosome that causes the physical and developmental delays associated with Down syndrome. Although, there is no way to prevent the chromosomal error, It is an error that occurred during the time of conception and there is nothing that the mother or father did to cause this and there is no way to prevent it.
How is it diagnosed?
It can be diagnosed in utero or after the child is born, with in the first few days/weeks of the child’s life.
Doctors will perform screen tests of a pregnant mother to see if they are at risk. Those tests might include but are not limited to:
· Triple or quadruple screen test – this is a combination of three tests that measure the quantities of various substances in the blood and is usually preformed between 15-20 weeks of gestation. Triple screen marks three markers where quadruple screen marks one additional marker and is more accurate.
· Nuchal translucency – this is preformed between 11-14 weeks of gestation, it uses an ultrasound the measure the clear space in the folds of the tissue behind the baby’s neck, the area behind the neck accumulate fluid in babies with DS.
· Sonograms– Also known as ultrasounds –these are usually preformed in conjunction with other tests and screenings; they can show physical traits that help in calculating the risks of Down syndrome. These are preformed between 18-20 weeks they also check the fetus for abnormalities and physical traits associated with Down Syndrome.
· Integrated screen – this test uses the results from the first trimester screening tests and the blood tests with the second trimester quad screen to come up with the most accurate results.
Remember these are just “screening tests” and do not accurately confirm or deny the diagnosis of Down syndrome.
Diagnostic tests might include but are not limited to the following:
· Amniocentesis – this is performed between 15-20 weeks gestation. This involves a needle inserted through the abdomen for the removal of a small amount of fluid. The cells collected from this test can then be analyzed for the presence of chromosomal abnormalities. However, this does carry a risk of complications (however, small) such as preterm labor or miscarriage.
· Chronic Villus Sampling– (CVS) this is conducted between 8-12 weeks – this involves taking a tiny sample of the placenta either through the cervix or a needle inserted in the abdomen. One advantage of this test is it can be performed in the first trimester; the disadvantage of this test is that it carries a slightly greater risk of miscarriage then an amniocentesis.
· Percutaneous Umbilical Blood Sampling (PUBS) – This is performed after 20 weeks of gestation, it involves retrieving a sample of blood from the umbilical cord via a needle inserted through the abdomen. It carries the same risk associated with an amniocentesis.
After the baby is born, if the doctor suspects that the baby may have Down syndrome, a Karyotype can be performed (a blood or tissue sample stain) is taken to show the chromosomes grouped by number, size, and shape and can verify the diagnosis.
Now what? After Diagnosis
Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to their eyes, smaller ears and a protruding tongue. Lowe muscle tone (hypotonia) is also a characteristic of a child with Downs, babies in particular may seem especially “limp” . This often does improve over time; most children usually reach their developmental milestones later than other kids. Kids with Downs seem to grow at a slower rate and remain smaller than their peers.
Down syndrome affects kids and their ability to learn in different ways, most have mild to moderate intellectual impairment. Kids with Downs can and do learn, they are capable of developing skills, they just simply reach those goals at a different pace than others, which is why it is important not to compare a child with Downs against a typical developing sibling or child with Downs as well. They have a wide range of talents and there is no way to tell at birth what they will be capable of as they grow up.
However, there are some medical problems with Downs, while some kids have no significant health issues, other may experience a host of medical issues that require extra care. Almost half of children born with Down syndrome with have some sort of congenital heart defect, kids with Downs are at a risk of developing pulmonary hypertension. Approximately half of all kids with Downs will have issues with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to a structural problem of the ear itself. Vision problems commonly include lazy-eye (amblyopia) near or far sightedness, a n increased risk of cataracts Regular evaluations by and audiologist or ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills.
Other medical conditions may arise, and occur more frequently in kids with Downs include but are not limited to:
· Thyroid problems
· Intestinal abnormalities
· Seizure disorders
· Respiratory problems
· Immune deficiency
· Upper neck abnormalities
Thankfully, many of these conditions are treatable.
If your child has Down syndrome, you may at first feel overwhelmed by feelings of guilt and fear. Experts recommend enrolling kids with Down syndrome into early intervention programs as soon as possible. Physical, occupational and speech therapists and early intervention educators can work with your child to encourage and accelerate development.
If your child was diagnosed with Down syndrome, we at Kidswork Therapy center can help. We are highly trained with an accredited staff of in house, speech and occupational therapists. We have state of the art building and equipment to assist in all your child’s developmental needs.