Child in bear suit looking out the window
  • Trisomy 21
  • Mosaicism
  • DS

Down Syndrome

A typical human cell contains 23 pairs of chromosomes, with half inherited from each parent. Down Syndrome is a genetic condition that occurs when a child has a full or partial extra copy of chromosome 21. The transformed genetic material alters the course of development and causes the characteristics associated with Down Syndrome. According to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Down Syndrome.

Most cases of Down Syndrome are spontaneous and sporadic events. Maternal age is the only factor linked to an increased likelihood of having a baby with Down syndrome; however, 80% of children with Down Syndrome are born to women under the age of 35. Down Syndrome is usually identified at birth by certain physical traits including low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. These features may be present in babies without Down Syndrome, so a chromosomal analysis called a karyotype, consisting of a blood draw, is commonly done to confirm the diagnosis.

There are two known types of Down Syndrome: Trisomy 21, where an embryo develops with three copies of chromosome 21 instead of the usual two, and Mosaicism, which is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism is much less common than Trisomy 21, accounting for only about one percent of all cases of Down Syndrome. Children with Down Syndrome possess some degree of cognitive delay, ranging from mild to severe.

A variety of therapies can be used in early childhood intervention programs to promote development, independence, and productivity, and should span the life of an individual with Down Syndrome.

Conventional Treatment

Down Syndrome does not have any solitary treatment. Treatments are based on each child’s physical and intellectual needs as well as his or her strengths and limitations. A child with Down Syndrome will likely receive care from a team of health professionals: physicians, special educators, speech therapists, occupational therapists, physical therapists, and others. The goal is always to provide the child with intellectual stimulation and encouragement. 

Children with Down Syndrome are at a greater risk for several health problems and conditions, some of which may require care immediately after birth. Many children with Down Syndrome are born with heart defects that may require surgery, or digestive problems that require a lifelong special diet. These and other conditions may need treatment throughout childhood and adulthood. A team of physicians, likely including a cardiologist, will determine the proper course of evaluation and treatment for the child’s physical health needs.

A variety of therapies can be used in early childhood intervention programs to promote development, independence, and productivity, and should span the life of an individual with Down Syndrome. Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve balance. Speech-language therapy helps children with Down Syndrome improve language skills and may even assist a child with alternate means of communication, such as sign language, while improving verbalization skills. Occupational therapy helps find ways to adjust everyday tasks to match a person's needs and abilities. Emotional and behavioral therapies address desirable and undesirable behaviors, developing strategies for avoiding or preventing negative situations, and teaching more positive ways to respond. Pharmaceutical medications are sometimes prescribed to treat various behaviors, but generally, the safety and efficacy have not been demonstrated.

Support

At The Brain Possible, our goal is to empower you to take a holistic approach to your child’s treatment. Below are ways in which you can support several aspects of your child’s recovery; before embarking on any, be sure to discuss them with your trusted health care providers.

Physical

Emotional/Social

Sensory

Intellectual

Nutritional/Environmental

Physiological

We understand that the categorization of conditions on The Brain Possible may not perfectly describe your child.

Our goal is inclusivity, opening the door to dialogue and information sharing.