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Genetic disorders are caused from a variation, alteration, mutation, or addition of genes. Genes are the basic unit capable of transmitting characteristics from one generation to the next. Groups of genes are called chromosomes.

Many childhood disorders have a genetic cause. Some are caused by a change in a gene or chromosome (group of genes) in an individual’s cells. An example of a genetic disorder in an individual is Down syndrome. Children with Down Syndrome have an extra copy of chromosome 21.

Other genetic disorders may be inherited through a family and each generation of children may inherit the gene that causes the disorder. An example of an inherited genetic disorder is Cystic Fibrosis.

When you find your child has a genetic condition, understanding the specific condition will supply you and your health care providers with a road map of what to look for as you child ages how to best treat them to maximize their medical condition and daily function.

Symptoms:

The symptoms of each genetic syndrome are unique. Some of the common symptoms therapists see include delays in the development of movement skills such as sitting and walking, use of the fingers or hands, feeding difficulty, speech and language disorders, sensory processing deficits, a child’s ability to play or dress.

Evaluation:

Pediatric rehabilitation therapists including: physical therapists, occupational therapists, and speech-language pathologists are specially trained to evaluate children with genetic disorders. The therapist will work together with the child’s doctors to identify specific medical concerns. They will also evaluate the child for delays in function. At the evaluation, the therapist will talk with the parent to review the child’s medical history and discuss areas of concern. They will then examine and test the child. Together with the parent, the therapist will define the best plan of care to meet each child’s needs.

Treatment:

The treatment for each child will be different. Intermountain pediatric therapists will work together with you, your child and your child’s doctors to provide the best evidence based treatment for each genetic disorder.

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