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October is Down Syndrome Awareness Month.  Down syndrome is a genetic condition that happens when a child is born with an extra chromosome. The extra chromosome affects the way the child’s brain and body develop, leading to developmental delays, intellectual disability, and an increased risk for certain medical issues.  It is the most common genetic cause of intellectual disability, affecting approximately 1 in every 700 children.

 

The name derived from John Langdon Down, a British physician who first recognized the traits of Down syndrome in 1866.  The chance that a baby will be born with Down syndrome increases with a mother’s age:

• 1 baby out of every 1,000 born to women under age 30

• 1 baby out of every 400 born to women older than 35

• 1 baby out of every 60 born to women older than 42

Some expectant parents choose to undergo prenatal testing to find out in advance if their child will have Down syndrome. These optional tests, performed during pregnancy, can identify a fetus’s sex, age, size, and placement in the uterus. They can also detect conditions such as Down syndrome, congenital heart defects, genetic conditions, and other birth defects.

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Most children with Down syndrome have some level of intellectual disability ranging from mild to moderate. People with mild intellectual disability are usually able to learn how to do everyday things like read, work, and take public transportation on their own. People with moderate intellectual disability usually need more supportive help.

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Many children with Down syndrome can participate in regular classrooms, although they may need extra help or modifications in teaching strategies. 

To help children with Down syndrome reach their highest potential, parents can seek out assistance programs as early as possible. By law, every state must provide developmental and special education services for children with Down syndrome, starting at birth with early Intervention and then continuing with public education until age 21.

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Children with Down syndrome can have a variety of health issues. Some can develop pulmonary hypertension, a condition that can cause lasting lung damage if left untreated.

Other health issues that commonly affect children with Down syndrome include:

• Hearing loss

• Vision problems

• Ear infections

• Obstructive sleep apnea

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Down syndrome is a common genetic condition that occurs when a child has an extra copy of chromosome 21.  Chromosomes are structures inside every human cell that contain DNA. These tiny structures that children inherit from their parents play a key role in determining how a baby develops, for instance, whether they will be tall or short, have dark or light skin, or curly or straight hair.

Normally, a mother's egg and a father's sperm each start out with 23 chromosomes. When the egg and sperm meet at conception, a child inherits 23 chromosomes from each parent, ending up with a total 46 chromosomes.   Researchers are still unsure of what causes the cells to divide. If the egg or sperm is fertilized, the baby ends up with three copies of chromosome 21 or Trisomy 21. This extra genetic material causes the health and developmental issues of Down syndrome.

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Children with Down syndrome have some of the following physical features:

• eyes that slant upward, from inner corner to outer corner

• small ears that may fold over slightly at the top

• a smaller-than-average mouth, and larger appearing tongue

• a smaller-than-average nose, with a flattened nasal bridge

• short, stocky arms and legs

• a wide space between the big toe and second toe

• short necks and small hands with short fingers

• one single crease that goes straight across the palm, and a second crease that curves down by the thumb, rather than three creases in the palm of the hand

• shorter-than-average height

• low muscle tone (hypotonia) throughout the body and excessively loose joints

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Most children with Down syndrome meet developmental milestones later than other children, including the ability to walk and talk. They often have mild to moderate intellectual disability and may have specific challenges with attention span, verbal memory, and expressive communication.

Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome. Many children talk out loud to themselves as a way of understanding and processing information.

On the other hand, many children with Down syndrome have strong social skills. Even as infants, many use non-verbal communication to connect with others. They are often strong visual learners, understanding information best when they can see it, either through pictures, objects, or demonstration.

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Depending on the child’s other medical issues, medications can treat conditions like seizure disorders, hypothyroidism, and childhood leukemia. Surgery may be necessary to treat upper neck abnormalities and stomach problems.  A variety of therapies are available to address a child's unique physical, behavioral, and communication needs and can have a positive impact on children’s learning and development.

Therapies include:

• occupational therapy to improve motor skills, such as using the hands and other parts of the body, and help children deal with sensory inputs from the environment

• physical therapy to increase mobility and muscle strength and help children to work within functional limitations

• speech therapy to help improve communication skills and self-expression

• behavioral therapy focused on managing emotional and behavioral problems

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Children under age 3 who have Down syndrome or other developmental challenges are eligible to receive developmental services through state-run, federally mandated programs. These programs have different names in each state. In Philadelphia, contact the Office of Diverse Learners Support, if you have a child in a public school that have different learning needs.  Children with disabilities are entitled to a Free Appropriate Public Education (FAPE) in the Least Restrictive Environment (LRE) at school.

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By Diedra Myers