Hylton I Lightman MD DCH (SA) FAAP

March 21 is World Down Syndrome Day. It is a day dedicated to spreading awareness about Down Syndrome, which is also known as Trisomy 21. Please join me for a couple of moments while we review facts about Down Syndrome.

Down Syndrome is the most common chromosomal condition diagnosed in the United States: Each year, almost 6,000 babies are born in this country with it. Down Syndrome is a condition in which a person has an extra copy of chromosome 21. Chromosomes are small “packages” of genes in the body’s cells, which determine how the body forms and functions. When babies are growing in utero, the extra chromosome changes how their body and brain develop. This can cause both physical and mental challenges. The extra chromosome may come from either the father or the mother.

People with Down Syndrome often have developmental challenges, such as being slower to learn and to speak than other children. Distinct physical signs are usually present at birth and become more apparent as the baby grows. They can include facial features such as:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up, often with a skin fold that covers one corner of the eye
• A tongue that tends to stick out of the mouth
• Lower set ears

Other physical signs can include:

• A short neck
• Small ears, hands, and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers
• Poor muscle tone or loose joints
• Shorter-than-average height

Some people with Down Syndrome have other medical problems as well. Common comorbidities include:

• Congenital heart defects
• Hearing loss
• Obstructive sleep apnea

We do not know for sure why Down Syndrome may occur. Some say the age of the mother is a factor, although there are several young mothers of Down Syndrome kids in my practice. Although screening tests for Down Syndrome are available to pregnant mothers, they do not offer a definitive diagnosis. A change of chromosome can be spontaneous in an older pregnancy mother. Sometimes, in a younger mother, she can be carrying an abnormal chromosome. To learn more, please speak with your obstetrician regarding genetic testing

Blood tests are drawn early in pregnancy. There are certain markers that can raise suspicion. Sometimes, the 20-week ultrasound can be suggestive. Again, please speak with your obstetrician.

It’s important to know that many Down Syndrome kids can develop obesity with age. Short stature is common. At age 3,your pediatrician will instruct you to have your child’s c1 and c2, the first and second vertebrae in the neck, x-rayed as they can be unstable. If this is the case, intervention is necessary.

Down syndrome kids have a mild to moderate intellectual disability. They might be challenged by limited attention spans, verbal memory and expressive communication. Stubbornness, impulsivity and temper tantrums are not uncommon in children with Down Syndrome.

The following organizations offer services for this demographic:

• National Down Syndrome Society — ndss.org
• Global Down Syndrome Foundation — globaldownsyndrome.org
• Yachad: The National Council for Jewish Disabilities —https://www.alexanderjfs.org/jfs-central/drg-yachad-the-national-jewish-council-for-disabilities
• Camp HASC —camphasc.org
• Mishkon — https://www.alexanderjfs.org/jfs-central/drg-yachad-the-national-jewishcouncil-for-disabilities

Your pediatrician will partner with you to help your child with Down Syndrome. In addition to medical care, there are early intervention programs that work with these children. Again, your pediatrician is most likely the gateway to helping you to help your child.

As always, daven.