Down Syndrome

What is it?

Down syndrome is a genetic disorder whereby a person has three copies of chromosome 21 instead of two.

Common but not universal features include:
• Decreased or poor muscle tone.
• Short neck, with excess skin at the back of the neck.
• Flattened facial profile and nose.
• Small head, ears, and mouth.
• Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye.

What are the symptoms?

Some symptoms include birth defects, some degree of mental retardation, characteristic facial features and visual and hearing impairment. Coordination is often lacking, and the voice can be boisterous. These children will learn to do the things other babies will do, but it will take them longer to reach development milestones. Problems that often occur are chronic rhinitis, conjunctivitis and periodontal disease.

How is it treated?

Low Muscle Tone results in the need for Physical, Occupational, Speech Language and Feeding Therapy.

• Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance. Physical therapy is important, especially early in a child’s life, because physical abilities lay the foundation for other skills.

• Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively. The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech.

• Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person’s needs and abilities. This type of therapy teaches self-care skills such as eating, getting dressed, writing, and using a computer.

A pediatric therapist helps a young child at pediatric therapy center