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.
What Does CHARGE Syndrome Mean?
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.
What Causes CHARGE Syndrome?
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.
How Common Is It?
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%.
Signs and Symptoms
The symptoms displayed in cases vary, and may range from severe to near normal. Children may show physical, cognitive, and behavioral signs.
- 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.
- Ocular coloboma is the presence of a slight slit in the eye, in the retina or iris, causing loss of vision. This affects around 70% – 90% of children with CHARGE Syndrome. Sometimes, one or both of the eyes may appear too small, referred to as microphthalmos, or be missing, a condition called anophthalmos.
- Choanal atresia is the blockage of the nasal passage. 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. This is not a very common sign.
- Cranial nerve abnormalities are most common, and result in facial paralysis, difficulty swallowing, or loss of sense of smell or hearing. The loss of hearing occurs in 97% of diagnosed children, and results from an underdeveloped cranial nerve.
- 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.
- Retardation can be intellectual or physical. Intellectual retardation can cause low IQ, near-normal IQ, or sometimes result in severe disabilities. Physical retardation caused by growth hormone deficiencies or difficulty in feeding can be detected in the first six months of the child’s life.
- Genital abnormalities and underdevelopment are most common in males. Only 15% – 20% of girls with the Syndrome suffer from genital underdevelopment, but around 80% – 90% of males are affected by it.
- Ear abnormalities are common, and most often manifest in deformities in the outer ear that are clearly visible. Some children may also experience nerve defects or abnormal semicircular canals in the inner ear, which may cause deafness.
- 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.
- CHARGE Syndrome behavior can be abnormal and lead to Obsessive-Compulsive Disorder (OCD), Autism Spectrum Disorder (ASD), or Attention Deficit Hyperactivity Disorder (ADHD). Children may also be unable to communicate clearly, or tend to get frustrated easily. A CHARGE Syndrome baby may also experience sleep issues.
How It Is Diagnosed
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.
Treatment for CHARGE Syndrome
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.
How to Find a Specialist
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.
What Kind of Life Do People with CHARGE Syndrome Lead?
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.