Genetic Conditions

What are Genetic and Metabolic Syndromes?

Genetic and metabolic syndromes can be linked and can cover a range of conditions including Angelman’s syndrome, Cri du Chat, and Prader Willi Syndrome.

What causes these syndromes?

Chromosomes are made up of genes that make up all proteins in the body, which promote development and growth and carry out all body functions. Genetic syndromes are caused by an abnormality in the chromosomes and therefore genes of a person. When these chromosomes are missing, duplicated, or mutated, the proteins may not get made, may be made incorrectly, or too many may be made. Any of these situations can cause abnormal development and growth and can result in a genetic syndrome. Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason.

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What you can do

Incorporating the activities your therapist recommends into your child’s day is important to get the most out of your therapy. This could include involving your child in functional activities such as preparing meals; encouraging them to wash themselves, feed themselves, and dress themselves.

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