An estimated 1 in every 1,000 babies born worldwide has Down syndrome, according to the World Health Organization. And in the Philippines, there are near 1,900 cases per year with more than 100,000 Filipino families living with a person with Down syndrome, according to the Down Syndrome Association of the Philippines Inc. in a report byThe Manila Times.
Down syndrome is a condition where a person is born with 47 chromosomes instead of the typical 46. This extra chromosome causes a delay in development that leads to physical and mental changes in the child.
Physical Common physical traits of those with Down syndrome are low muscle tone, small stature, slanted eyes, and a single crease across the center of the palm, according to the National Down Syndrome Society of the U.S.
The condition can also accompany medical problems. According to WHO, at least 60% of children with Down syndrome have hearing deficits and up to 45% have congenital heart disease. The risk of intestinal abnormalities, eye problems, thyroid dysfunction, and skeletal problems, among others, is also higher.
Note, however, that the manifestation of Down syndrome can vary widely in each person who has it. “While some kids with Down syndrome need a lot of medical attention, others lead healthy lives,” said KidsHealth.
Cognitive This variation is also true in terms of mental development. “Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe,” said Mayo Clinic.
Some will need special education services with “intensive individualized therapy programs” while others can manage a basic academic curriculum, said Dr. Alexis Reyes, a developmental pediatrician who holds clinic at the UP-Philippine General Hospital, to SmartParenting.com.ph. “Each child with Down syndrome will need specific intervention because of the wide variation of their skills.”
What causes Down In simpler terms, “[Down syndrome] is caused by a mistake in cell division during early development of the fetus,” states Mayo Clinic. “In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies.” The extra chromosome 21 can originate from either the father or the mother.
It is this extra chromosome that causes the changes in the baby’s genetics. No one knows yet why this happens, and there is no way of preventing it. What scientists know, however, that a woman has an increased risk of giving birth to a child with the condition after the age of 35 years old, according to KidsHealth. By age 40, the risk of having a child with Down syndrome is at 1 in 100. There is an increased risk with age because older eggs have a greater risk of improper chromosome division, Mayo Clinic adds.
However, it doesn't mean that young moms will not have babies with Down syndrome. In fact, in the U.S., 80% of children with Down syndrome are born to women under 35 years of age due to higher birth rates in younger women, according the National Down Syndrome Society.
Diagnosis Tests are usually offered to pregnant women to screen their baby for Down syndrome. Note that screening tests can only tell a parent how likely their child will be born with the condition. A diagnostic test is needed to confirm Down.
For example, the nuchal translucency scan, done between the 11th and 14th week of pregnancy, uses an ultrasound to measure the space in the tissue at the back of the unborn baby's neck. More fluid at the back of the neck indicate a greater risk, according to Baby Center. However, there's a 10- to 20-percent that a scan may not detect any risk at all. About five percent of the babies who test positive for Down syndrome via this scan could be born without the condition.
After birth, if a baby is suspected to have Down syndrome, a doctor will order a diagnostic test to confirm. This usually involves taking a blood sample from the newborn.
Proper support and management can greatly improve the quality of life of a child with Down syndrome as he or she grows. As every child is unique, intervention is based on the child’s individuality.
“Managing a child with Down syndrome is always a collaborative effort with parents as partners and active participants,” said Dr. Reyes. In the case of Jeremy, the son of one Pinay mom, their team of specialists included a geneticist, a cardiologist, an ENT specialist, a neurologist, an orthopedist, a pediatric ophthalmologist, physical and occupational therapists, and a speech pathologist.
“We all work as a team with a common objective — to let Jeremy live to be self-reliant, happy, confident in the knowledge that his condition is not his fault (or anyone’s) and that there are a lot of things he can do with his life,” she shared in an article for Smartparenting.com.ph.
Support for parents is crucial as well. The Down Syndrome Association of the Philippines, Inc. (DSAPI) has trained personnel who can recommend medical specialists and give advice. DSAPI can also introduce moms and dads to other parents of children with Down syndrome, individually or at parent support group meetings. Visit their website at Dsapi.org.
For any concerns regarding your pregnancy or your child's development, don't hesitate to consult with a medical professional.