1. What is CHARGE Syndrome?

References:




CHARGE Syndrome is a specific set of birth defects commonly found together. The word CHARGE is an acronym for each of the defects that may be found in people diagnosed with CHARGE.

Coloboma "a cleft or failure to close the eyeball"

Heart defects

Atresia of the choanae - blockage of the back of the nasal passage

Retardation:

Genital and urinary difficulties

Ear abnormalities and hearing loss

(Norbury & Hefner, no date)

Other health difficulties associated with CHARGE Syndrome:

(Moss, no date)

Many of the effects of CHARGE can be corrected with surgery. Major problems of CHARGE such as artresia of the choanae and heart problems often can be operated on for some correction. Steroids can be administered to regulate/correct problems with reproductive organs. Also other abnormalities often associated with CHARGE Syndrome such as cleft lip and/or palate, difficulty swallowing, and seizures can be controlled with surgery and/or medication. Patients can also use hearing aids and glasses to aid with vision or hearing loss (Norbury et al., no date).

Insights:

Children may be physically very frail due to the effects of CHARGE Syndrome on the body. Frailty may cause problems with the cognitive development of the child. Children may be in and out of hospitals constantly for the first few years of life.

Often children with CHARGE Syndrome may go undiagnosed due to lack of knowledge about the disease. To be diagnosed with CHARGE Syndrome the child must display at least four of the six major characteristics associated with CHARGE Syndrome. Once CHARGE Syndrome is suspected it is crucial to have the child assessed by a team of professionals to check and make sure that any other problems associated with CHARGE Syndrome are discovered and addressed (audiological and opthamological examination, physical exam – check heart, kidneys, reproductive organs).

For more information: http://home.clara.net/sirb/charge.htm


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