What is the charge syndrome?
charge syndrome is a genetic state that occurs in one of each 10,000 infants. This very rare condition is associated with abnormalities on the eighth chromosome and can manifest itself in different ways. Many people with charge syndrome live very active, fulfilling lives and independence are for many patients if they receive the right supporting care because they grow so that they can learn to navigate in society. Ears' abnormalities. The condition was first described as an association of charge in 1979 and later turned into a cartridge syndrome when genetic research revealed chromosomal abnormalities responsible under the condition. In order to diagnose the charge, the child must have at least four of the six common abnormalities.
Coloboma, a condition in which a hole appears around the eye structures can cause blindness and vision problems, and if patients do not have colloboma, they may have other eye problems such as eyes that are too small or missing eyes. Heart problems in patients with charge are relativelydiverse but often repairable. Atresia Choanae is a condition caused by partially blocked or sealed nasal passages, and some patients also have split lips, heels and other congenital defects related to incomplete development in the womb.
Development retardation can range from developmental delays in the brain to slowing growth. The abnormalities of the genitals that are observed by patients also include urinary tract problems, and many of them also have problems with the endocrine system, while the glands underestimate the necessary hormones. Ear abnormalities can range from overall deafness to partial hearing loss. Patients can also develop problems such as the abnormalities of the central nervous system, low muscle tone, scoliosis and kidney abnormalities. Behavior problems are also common, although they can often be solved by compassionate care, which is aimed at providing opportunities for learning, communicating and experiencing the world.
Some children are born with such serious abnormalities that it is unlikely to survive childhood and childhood. Other children with charge syndrome can be treated and can live well into adulthood. Treatment may include surgery for mastery of congenital defects, drugs that compensate for missing hormones and physical and ergotherapy. Patients with a syndrome charge need advocates in the form of parents, therapists, teachers and doctors who will provide them with many opportunities for educational and personal enrichment.
As well as many children with developments, child syndrome is sometimes assumed that they are incurable, but in fact, Thsty capacity for emotional and intellectual development, like everyone else, has an irreplaceable contribution to society.