2. What are the characteristics of CHARGE in the population?

References:


CHARGE Syndrome has been found in both males and females. It occurs in approximately one of every ten to twelve thousand births (Norbury & Hefner, no date). Curiously it is both sporadic and familial in nature. Usually a family will not have a second child born with the syndrome. However, chances of having a child born with CHARGE Syndrome increase if one parent is diagnosed with CHARGE ( Hefner, Thenlin, & Davenport, 1987).

CHARGE does not discriminate in regards to race, gender, or socioeconomic background. Many scientists believe that it is found on the X gene and is carried from generation to generation (McKusick, 1986). Unfortunately, no test can detect the presence of CHARGE before birth or after because there are so many symptoms He (Hefner et al., 1987).

 

Insights:

CHARGE Syndrome problems can occur with any child. CHARGE has been proven to be tricky to pinpoint because often problems are seen individually by disability rather than as a whole disease. What makes problems even worse is that each aspect of the disease has itís own variables or degrees. No two cases are the same, which may cause difficulty in diagnosis.

Another difficulty is that CHARGEís causes are unknown. It has been seen sporadically and hereditarily which continues to create problems in finding the etiology for the syndrome and predicting who is at risk in getting it. There is also no way to test for CHARGE syndrome. Doctors must be knowledgeable about the disease so that they can have a chance detecting it.

Because CHARGE Syndrome is a fairly new disease there is not much known about its precise cause. In addition to itís newness, often times it is not identified correctly as CHARGE Syndrome because each symptom may have a varying degree in each case. For example, one child with CHARGE in part of the problem may be a mild heart murmur that could correct itself with medication, whereas another case may have a heart defect so severe it could be fatal

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