CHARGE Syndrome is a rare genetic disorder that affects newborns and causes numerous physical problems. It is also referred to as Hall-Hittner Syndrome, or CHARGE Association. The cluster of congenital disabilities caused by this disorder includes coloboma, heart defects, atresia, growth challenges or retardation, genital anomalies, and ear anomalies, thus forming the acronym ‘CHARGE’. These malformations vary from child to child, and affect various parts of the body. Combinations of these health problems can be life-threatening during infancy. However, with the right diagnosis and treatment, children with CHARGE can lead healthy and happy lives.
The term ‘CHARGE’ was created for the group of disorders in 1981. CHARGE stands for this range of effects: ocular coloboma, congenital heart defects, choanal atresia, retardation of development, genital anomalies, and ear anomalies, i.e., deafness. However, the presence of each of these effects is not necessary for a diagnosis of CHARGE Syndrome. The four essentials are coloboma, atresia, abnormalities in the cranial nerve, and the ear anomalies.
CHARGE Syndrome is a genetic disorder. The Syndrome is identified on chromosome 8, and it involves CHD7 gene mutations. The gene is associated with providing instructions for the production of proteins to regulate gene activity, through the process of chromatin remodeling. A mutation in the gene results in the premature breakdown of the CHD7 protein during embryonic development, which causes the signs and symptoms of the disorder. Currently, CHD7 is the only gene that has been identified with the Syndrome.
CHARGE Syndrome inheritance is autosomal dominant. The Syndrome is seldom a result of heredity from affected parents, and most cases of the disorder result from new mutations of the CHD7 gene. Research has also shown that around one-third of individuals with CHARGE Syndrome do not possess an identified mutation of the CHD7 gene, and the cause of the disorder in these cases is unknown. It is speculated that the Syndrome might have resulted from other genetic or environmental factors.
CHARGE syndrome statistics indicate that the disorder occurs in approximately 1 in 8,500 to 10,000 newborns. This rare genetic disorder affects girls and boys alike. Most CHARGE Syndrome cases are a result of new mutations in the CHD7 gene, and there are only rare cases where the disorder has been passed down from an affected parent or other members of the family tree. The risk of an affected person’s child having the disorder is 50%.
The symptoms displayed in cases vary, and may range from severe to near normal. Children may show physical, cognitive, and behavioral signs.
CHARGE Syndrome can be diagnosed by looking at the cluster of physical symptoms, especially ocular coloboma, choanal atresia, and abnormal semicircular ear canals. Medical geneticists should examine infants exhibiting symptoms of CHARGE Syndrome. 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.
A diagnosis of CHARGE Syndrome can be confirmed sometimes with molecular genetic testing, but it is expensive and is only performed in specific laboratories. CHD7 gene testing is also not completely accurate. However, other tests can be performed to determine the signs and symptoms of the disorder, including echocardiograms, inner ear MRIs, and kidney ultrasounds.
The treatment of a child with CHARGE depends upon the signs and symptoms that have been identified. There is no singular cure for the disorder, and early intervention and measures are essential in order to make a difference. 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. Some symptoms, like heart defects, are usually life-threatening in infants, and must be treated accordingly. In order to treat the developmental issues, the child may have to undergo therapy, like physical, speech, or occupational therapy. These therapies may have to be continued for numerous years. A deaf/blind specialist is vital to assist a child suffering from the loss of both vision and hearing. Those with cognitive disabilities may have to undergo special education. Sleep apnea and other sleep disturbances can be tackled with conventional treatments. Affected individuals or their families may also opt for undergoing genetic counseling.
Some individuals may require extensive care throughout their life, while some may become healthy adults with normal lives. But, most cases require a certain degree of support throughout their lives. A medical specialist must monitor the genetics, cardiology, ENT and audiology, urology, endocrinology, and ophthalmology of the person with CHARGE.
In order to diagnose CHARGE Syndrome, it is necessary to approach a qualified medical geneticist. Other treatments, depending upon the child’s symptoms, will be provided by various specialists like audiologists, pediatricians, physiotherapists, psychologists, speech pathologists, ophthalmologists, special education teachers, and occupational therapists.
You can find specialists through advocacy organizations, medical journals, or clinical trials. Some organizations supporting CHARGE Syndrome include About Face International, CHARGE Syndrome Foundation, and Children’s Craniofacial Association. Medical centers and universities often can also be useful, as they have more information regarding complex cases, and the latest treatments and technology. You can try to get in touch with national or international specialists through your local doctors. You can obtain consults from them via email or phone, if travel is a constraint. There are also online directories that provide names of medical professionals. You can look at the directories maintained by the American College of Medical Genetics or the National Society of Genetic Counselors.
The prognosis for persons with CHARGE Syndrome is positive if their condition is adequately managed. The quality of life of a person affected by CHARGE Syndrome varies with the symptoms they exhibit. Some people may require extensive care throughout their life; others may become healthy adults with normal lives. However, most cases are of those who require a certain degree of support throughout their lives. They will face issues like sleep apnea, anxiety, bone health problems, retinal detachments, and aggression. 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. 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. People with CHARGE Syndrome can look to their close relations for support, or even join support groups. While they may face certain hurdles, persons with CHARGE Syndrome can lead happy and healthy lives, if they are given the right kind of support and care.
CHARGE Syndrome is a rare genetic disorder that can have certain life-threatening symptoms. Early detection and intervention can go a long way in ensuring that a child with CHARGE Syndrome can lead an independent, healthy, and happy life. Providing care, comfort, and support to a person with CHARGE Syndrome can go a long way in helping them cope with their difficulties.
This post was last modified on February 24, 2021 10:47 am