![]() ![]() People with CHARGE Syndrome can look to their close relations for support, or even join support groups. A common issue faced is the loss of hearing and vision, and these individuals must learn to communicate effectively for example, by learning sign language. These can be combated with speech, physical, or occupational therapy, as the case may be, so that they don’t interfere with the person’s relationships with friends, family, and society. They will face issues like sleep apnea, anxiety, bone health problems, retinal detachments, and aggression. However, most cases are of those who require a certain degree of support throughout their lives. Some people may require extensive care throughout their life others may become healthy adults with normal lives. The quality of life of a person affected by CHARGE Syndrome varies with the symptoms they exhibit. The prognosis for persons with CHARGE Syndrome is positive if their condition is adequately managed. What Kind of Life Do People with CHARGE Syndrome Lead? Affected individuals or their families may also opt for undergoing genetic counseling. Sleep apnea and other sleep disturbances can be tackled with conventional treatments. Those with cognitive disabilities may have to undergo special education. A deaf/blind specialist is vital to assist a child suffering from the loss of both vision and hearing. These therapies may have to be continued for numerous years. In order to treat the developmental issues, the child may have to undergo therapy, like physical, speech, or occupational therapy. Some symptoms, like heart defects, are usually life-threatening in infants, and must be treated accordingly. The child will have to undergo numerous surgical procedures or other medical treatments as necessary, as in the case of structural abnormalities like heart defects, choanal atresia, or cleft lip. There is no singular cure for the disorder, and early intervention and measures are essential in order to make a difference. The treatment of a child with CHARGE depends upon the signs and symptoms that have been identified. A complete physical checkup will have to be performed to identify all the symptoms and rule out disorders with similar symptoms, like Kabuki Syndrome, Mowat-Wilson Syndrome, and Kallman Syndrome. Medical geneticists should examine infants exhibiting symptoms of CHARGE Syndrome. A CHARGE Syndrome baby may also experience sleep issues.ĬHARGE Syndrome can be diagnosed by looking at the cluster of physical symptoms, especially ocular coloboma, choanal atresia, and abnormal semicircular ear canals. Children may also be unable to communicate clearly, or tend to get frustrated easily. CHARGE Syndrome behavior can be abnormal and lead to Obsessive-Compulsive Disorder (OCD), Autism Spectrum Disorder (ASD), or Attention Deficit Hyperactivity Disorder (ADHD).Less common signs include problems with the immune system, kidney abnormalities, scoliosis, kyphosis, cleft lip and palate, limb abnormalities like extra or missing fingers or toes, and skeletal abnormalities.Some children may also experience nerve defects or abnormal semicircular canals in the inner ear, which may cause deafness. ![]() Ear abnormalities are common, and most often manifest in deformities in the outer ear that are clearly visible.Only 15% – 20% of girls with the Syndrome suffer from genital underdevelopment, but around 80% – 90% of males are affected by it. Genital abnormalities and underdevelopment are most common in males.Physical retardation caused by growth hormone deficiencies or difficulty in feeding can be detected in the first six months of the child’s life. Intellectual retardation can cause low IQ, near-normal IQ, or sometimes result in severe disabilities. Retardation can be intellectual or physical.Heart defects also occur in 75% of newborns affected by the Syndrome, and are most frequently in the form of a hole in the heart.The loss of hearing occurs in 97% of diagnosed children, and results from an underdeveloped cranial nerve. Cranial nerve abnormalities are most common, and result in facial paralysis, difficulty swallowing, or loss of sense of smell or hearing.The back of the nasal sinuses may be narrowed on one or both sides, or it may not connect to the back of the throat at all. Choanal atresia is the blockage of the nasal passage.Sometimes, one or both of the eyes may appear too small, referred to as microphthalmos, or be missing, a condition called anophthalmos. This affects around 70% – 90% of children with CHARGE Syndrome. Ocular coloboma is the presence of a slight slit in the eye, in the retina or iris, causing loss of vision.The most common physical signs of CHARGE Syndrome are reflected in the disorder’s name and include coloboma, heart defects, atresia, growth retardation, genital anomalies, and ear anomalies. ![]()
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