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Complete Deafness

Question: Information on CHARGE syndrome? I will be supporting a adult client who has CHARGE syndrome, with complete deafness. I found the CHARGE foundation web page but need more information. Can anyone give me any information on this syndrome? I'm really looking for personal expeience, but any knowledge of it would be appreciated. I'm especially wanting to know how it effects a persons lifestyle and best ways to support someone. Thanks.

Answer: CHARGE Syndrome A combination of associated malformations CHARGE syndrome is the acronym given to a group of associated physical malformations: coloboma (eye), heart anomaly, atresia (choanal), retardation (mental and growth), genital anomaly, ear anomaly. It is not known how often CHARGE syndrome occurs; around 200 cases have been reported in the medical literature. It affects both males and females. Symptoms Each of the malformations ranges from near normal to severe, so each person with CHARGE syndrome may have different physical problems. No one problem is present in all those affected by CHARGE syndrome. The main symptoms are: Coloboma of the eye (80% of individuals) - a fissure (crack) usually in the back of the eye. One or both eyes may also be too small. Heart anomaly (70%) - Different types of heart defects may occur. The most frequent type is a hole in the heart (septal defect). Choanal atresia (50%) - The back of the nasal sinuses on one or both sides doesn't connect with the back of the throat. This means an individual cannot breathe through his/her nose, only through the mouth. Growth retardation (80%) - This is first detected when the infant fails to grow normally in the first 6 months of life. It is due to growth hormone deficiency and/or feeding difficulty. Mental retardation (70%) - may range from mild to severe Underdeveloped genitals (male 70%, female 30%) Ear abnormalities (90%) - The ear on the outside is malformed. Problems in the inner ear, such as nerve defects, may result in deafness (60% of individuals). Other physical problems such as facial nerve palsy and unusual facial features may also be present. Diagnosis A diagnosis of CHARGE syndrome requires the presence of at least 4 of the features of the syndrome. Choanal atresia is the most easily detected, especially if it is severe, since an infant born with it will have trouble breathing. X-rays and ultrasound scans can look for other symptoms of the syndrome. Treatment Treatment for CHARGE syndrome focuses on the particular physical problems of each individual. Some individuals may require medical care for difficulty eating, eye problems or blindness, hearing loss or deafness, or other problems. Surgery may be required to correct a heart defect. Physical and occupational therapy can help the individual develop to his or her fullest potential.


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