Understanding Down Syndrome

Published on: 22/10/2020

The month of October is also Down Syndrome Awareness Month.

As we mark this campaign, keep in mind that we are celebrating abilities and not disabilities. Part of the movement is to shed light on the condition and needs of those who are living with this disorder. In doing so, we can then better advocate for their acceptance and inclusion in our society.

Why Is It Called Down Syndrome?

Down syndrome is named after British physician Dr. John Langdon Down, whose prominent paper described the disorder as early as the 1860s. In 1959, the genetic cause of the syndrome was discovered, and the name was later on standardized by the National Institutes of Health.

What Is Down Syndrome?

According to the World Health Organization (WHO), Down syndrome is a type of mental retardation. It is caused by extra genetic material in chromosome 21, which is why it is also called Trisomy 21. This extra copy of chromosome 21 alters the developments in the baby’s body and brain. Oftentimes it can lead to both mental and physical challenges for the baby.

Infants with Down syndrome usually exhibit physical characteristics such as a flat face, almond-shaped eyes that slant up, irregularly shaped ears, a short neck, a large tongue (relative to the mouth), and small hands and feet. They also show decreased muscle tone and the ability to extend joints beyond the usual. 

In general, people with Down syndrome have an IQ in the mildly-to-moderately low range. They have also been observed as slower to speak than other children. Aside from these, WHO also notes other conditions that can also afflict Down syndrome patients, including heart disease, leukemia, and Alzheimer’s disease.

How Common Is It?

The Centers for Disease Control and Prevention reports that one in every 700 babies is affected by Down syndrome. As such, Down syndrome is considered the most common chromosomal condition in the United States. While Down syndrome is a genetic condition, it is not likely passed from parent to child, as only 1% of all cases exhibit a hereditary component. 

Diagnosis and Treatment

Screening tests and diagnostic tests can be done prenatally to determine whether a fetus has Down syndrome. Some of these are done through a blood test and an ultrasound which are routinely offered to pregnant women. At birth, on the other hand, the syndrome is identified through the physical traits we mentioned earlier. To confirm this diagnosis, a karyotype (chromosomal analysis) is done.

Because Down Syndrome is a lifelong condition, it is helpful for parents or caretakers to schedule them for screening for medical issues. There are no standard treatments for Down syndrome as these are based on the individual's physical and intellectual needs. Nevertheless, most treatment services focus on aiding the child’s development, such as speech, physical, and occupational therapy.

How Can We Help?

In the Philippines, the Department of Health reminds us that we should empower children with Down syndrome. Health expert Dr. Leanith Haya suggests interventions can be useful to help children become functional members of the society. If your child has Down syndrome, physical therapy will allow them to build strength in their muscles, while occupational therapy can teach them how to do things on their own, such as eating and dressing themselves. When it comes to school choices, Dr. Haya also says that their capacity should be the primary consideration. They should be in a group with similar abilities and needs so they can develop along to their full potential.

When communicating to people with Down syndrome, it is important to remember that while they might look similar, each one has different abilities. It is always best to speak with respect and not try to guess how much or how little the person can understand you.

Due to further studies on this disorder, persons with Down syndrome are now living longer, happier lives. The syndrome may pose challenges, such as varying degrees of cognitive delays in individuals, but nonetheless, people with Down syndrome have shown they can integrate themselves into society and community organizations. 

By coming from a place of awareness, we can support them in their needs and give them the respect they deserve.