What is Down Syndrome? What are the symptoms and treatments of Down Syndrome? And how can AC Cares assist a family in dealing with symptoms of Down Syndrome?

Down Syndrome is a genetic condition associated with physical growth delays, characteristic facial features, and varying developmental and intellectual disability. It is caused by a full or partial copy of chromosome 21. The term for having an extra copy of a chromosome is trisomy. Down syndrome is alternatively called Trisomy 21. This extra chromosome copy affects how an infant’s brain and body develop. Trisomy 21, or Down Syndrome, causes both mental and physical challenges. It is recognizable at birth.

According to the CDC, some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye

Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

Down Syndrome is detected during pregnancy by one of two tests: a screening and/or diagnostic test. A screening test, usually including a blood test and ultrasound, assesses the likelihood of a fetus having Down syndrome. Extra fluid behind the fetus’ neck is an indicator of a genetic problem. This indicator does not provide a firm diagnosis. However, screening tests hold fewer risks for the mother and developing fetus. Usually, diagnostic tests are only done after a positive screen test. These tests can typically detect if a fetus will have Down syndrome but they hold greater risks. Diagnostic tests include Chorionic villus sampling (CVS) and Percutaneous umbilical blood sampling (PUBS). These tests observe chromosomal changes that could indicate Down syndrome. Neither method can predict the full impact or severity of Down syndrome on the fetus.

There are three types of Down syndrome. They are often indistinguishable due to their similar physical and behavioral presentations.

Trisomy 21

Around 95% of people with Down syndrome have Trisomy 21. Those with Trisomy 21 have 3 separate copies of chromosome 21 instead of the typical two copies.

Translocation Down syndrome

This type is rare, making up only about 3% of people with Down syndrome. Those with Translocation Down syndrome have an extra whole or partial, but it is attached or “trans-located” to another chromosome rather than being separate.

Mosaic Down syndrome

This type is rare, making up only about 2% of people with Down syndrome. Mosaic means mixture or combination. Those with Mosaic Down syndrome have three copies of chromosome 21 in some of their cells, while other cells have only the typical two copies. Those with Mosaic Down syndrome often have the facial features associated with Down syndrome. Yet, they typically have fewer additional features.

The three types tend to share a number of traits. Common features of Down syndrome include small skull, upward slant of eyes and epicanthic fold, oblique palpebral fissure, small nose and a flat nasal bridge, narrow palate, small teeth, protruding tongue, small ears, short hands, simian crease, delayed development, behavioral problems and cognitive disability.

What causes Down syndrome?

While researchers know that Down syndrome is caused by an extra chromosome 21, they aren’t sure exactly why Down syndrome occurs or how many factors may play a role. That being said, they have identified factors that may increase the risk of having a baby with Down syndrome. The dominant risk factor is advanced maternal age. That being said, most babies with Down syndrome are born to mothers less than 35, because there are a significantly higher number of births among women younger than 35.

Treatments

There is no standard treatment for Down syndrome. Treatments are based on the individual’s specific needs. In developing a treatment plan for a person with Down syndrome, personal strengths and limitations are carefully considered.

Typically the most successful treatment plan for a child with Down syndrome is holistic. Often they will receive care from a team of health professionals. This team might include a combination of physicians, special educators, speech therapists,occupational therapists, and physical therapists, and social workers. Stimulation and encouragement should be a central focus of the professionals who care for children with Down syndrome.

People with Down syndrome are at risk for a number of health problems and conditions. Often these associated conditions require care immediately after birth, continual treatment throughout childhood, and/or long-term lifelong treatment. Conditions commonly associated with Down syndrome include heart defects, vision problems, hearing loss, infections, hyperthyroidism, blood disorders, poor muscle tone, upper spine issues, disrupted sleep patterns, gum disease, and dental problems, epilepsy, digestive disorders, celiac disease, and mental health and emotional problems. Specialized doctors such as pediatric cardiologists care for those with Down syndrome.

There is no approved medication to treat Down syndrome. Some people with Down syndrome take amino acids or drugs that affect brain activity. However, many of the clinical trials associated with these treatments revealed a host of adverse effects from these treatments. More recently, more specific psychoactive drugs have been developed. As of yet, no studies have demonstrated their safety or efficacy. This being said drugs may be used to aid in managing the associated conditions listed above and their symptoms.

Aside from drug intervention, a variety of therapies can be used to treat Down syndrome. Physical therapy, speech-language therapy, occupational therapy, and emotional behavioral therapy promote development and independence.

How can we help?

At AC Cares, we can assist the family in dealing with Down syndrome in many ways. These would include:

Whether you are searching for a qualified doctor, treatment options, or a nutritionist, we have vetted, knowledgeable medical professionals to assist you on your journey.

Dealing with Down syndrome can be overwhelming and confusing for families, and we have the latest information on everything from new treatment options to medical trials to help our families in need.

Meeting with others facing similar challenges can provide a lifeline to those who feel alone, and our support groups and moderators are there to walk with you on this journey.

Group seminars and workshops on topics ranging from getting the support needed for your child at school to safety measures in the home provide instruction to prepare you for your role as advocate and caregiver.