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CHARGE Syndrome



CHARGE Syndrome Definition


CHARGE syndrome is a genetic disorder which consists of a set of congenital defects on newborn babies. It was first discovered in 1979 and the acronym was coined in 1981. The acronym CHARGE stands for Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital abnormalities and Ear problems.


CHARGE Syndrome Education


As education helps children cope with their health conditions, it is more important to educate the parents for them to be IN CHARGE in handling their child?s condition. Parents serve as their child?s backbone of strength in dealing with the syndrome, and it is their job to ensure that the child will be able to meet his full potential through therapy and education. These children will soon grow up and thus they should be prepared to go to bigger environments. Their teachers in school should be well-informed about their condition in order to meet their needs. With these in hand, children would be able to develop their overall well being and live like normal people. Parents, doctors, therapists and teachers should be patient enough to understand the behaviors displayed by children with CHARGE, as these are their way to communicate. Take time to know what they need by knowing why they display such actions and emotions.


CHARGE Syndrome Genetics


Formerly known as CHARGE association, CHARGE syndrome indicates a pattern of congenital defects which occur together as a group. It is caused by a mutation on the CHD7 gene located at Chromosome 8, and this was finally proved in a study in 2004, where 10 out of 17 patients with a mutated CHD7 gene were found to have CHARGE. CHARGE syndrome is estimated to be prevalent on one out of nine thousand newborn children.


CHARGE Syndrome Treatment


Children born with the CHARGE syndrome are at risk to various life-threatening diseases, but once the diseases is detected, these children can survive and grow to be healthy individuals through the help of advanced medical care. Therapies are recommended in order for them to cope from their defects as well as educational intervention. Physical and occupational therapy must be done during the child's early years so as to develop their intelligence despite deafness and blindness. Therapies improve the patient's mobility and static postures, and as well teach them self care skills. Most of all, children with CHARGE would be able to cope faster through consistent moral and emotional support from their parents, doctors and therapists.


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