Down syndrome in children

What is Down syndrome?

Down syndrome is a condition that is caused by extra genetic material. It’s one of the most common genetic conditions in the United States. The extra genetic material often causes delays in physical and mental development. It also increases the risk of developing other health issues, like heart defects, eye diseases and hearing problems.

Children with Down syndrome often look and act differently than children who don’t have Down syndrome. Mild to moderate intellectual disability and distinctive physical features are common in children with Down syndrome.

Down syndrom was first described by Dr. John Langdon Down, and English physician, in the late 19th century. It was later discovered in 1959, by French pediatrician Dr. Jerome Lejeune, that people with Down syndrome has an extra chromosome.

What are the different types of Down syndrome?

The different types of Down syndrome will be reviewed with you during your first visit with the genetic counselor.

The three most common types of Down syndrome include:

1. Pediatric trisomy 21 - This is the most common type, impacting 95% of children with Down syndrome.

2. Pediatric translocation Down syndrome - This form isn’t very common and affects about 3% of people with Down syndrome.

3. Pediatric mosaic Down syndrome - This is the rarest type of pediatric Down syndrome, impacting about 2% of children.

What are the signs and symptoms of Down syndrome in children?

Physical characteristics may include:

• Almond shaped eyes that slant upward

• A short neck

• Small ears

• Short arms and legs

• Low muscle tone

• Short height

Mental, developmental and behavioral symptoms may include:

• Delays in talking and walking

• Mild to moderate intellectual disability

• Challenges with attention span and memory

• Impulsive behavior and temper tantrums

How is Down syndrome diagnosed?

Prenatal screening - Down syndrome is typically diagnosed before a child is born during prenatal screening or with diagnostic tests.

• Screening tests - These tests are usually performed during routine prenatal appointments. Screening tests estimate the chances that a baby has Down syndrome and help decide whether diagnostic tests are needed. For example, an ultrasound is a type of screening test that is routinely used to assess fetal development during pregnancy.

• Diagnostic tests - These tests are performed if the result of a routine prenatal screening shows a possible health condition. Diagnostic tests accurately diagnose Down syndrome and other genetic disorders. These can be done by taking a sample of the mother’s blood or getting a sample of the baby’s cells while still in the uterus.

After birth - If not diagnosed during pregnancy, it may be diagnosed in the first 24 hours of life. Neither screening or diagnostic testing can determine the full impact Down syndrome will have on a baby.

What causes Down syndrome?

Pediatric Down syndrome happens when a baby is born with the extra chromosome (genetic material). Doctors don’t know why this happens, but there are many risk factors including the mother's age.

How is Down syndrome treated?

Treatment for Down syndrome focuses on addressing associated health problems.

Some of the most common health problems children with Down syndrome have include:

• Heart disease

• Hearing loss

• Eye disease

• Sleep disorders

• Feeding disorders

• Spine disorders

• Muscle problems

Treatment for children with Down syndrome usually includes:

• Occupational therapy (OT)

• Physical therapy (PT)

• Speech and feeding disorder therapy

Our team will work closely with you to make sure your child is receiving the best care possible for their medical, developmental and behavioral concerns. Each child is different and will have a unique care plan that meets their individual needs.

Our dedicated Pediatric Down syndrome Clinic provides specialty care focusing on the health and developmental issues of babies, children and teens with Down syndrome.