CHARGE syndrome is a genetic disorder with multiple symptoms or clinical pictures. Most notable among these are a colomb of the eye, heart defects, atresia of the choans, decreased length growth and developmental delay, genital abnormality, and abnormality of the ear. Surgical correction of the malformations is necessary. Many sufferers can lead relatively normal lives within their means.
What is CHARGE syndrome?
CHARGE syndrome, also known as CHARGE association or Hall-Hittner syndrome, is a rare genetic disorder. Two-thirds of those with CHARGE syndrome have one or more mutations on the CHD7 gene, he said. CHARGE is an acronym for the English names of the syndromes that typically occur in this syndrome: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital abnormality, Ear abnormality.
Causes
The causes of CHARGE syndrome lie in genetics. Approximately two-thirds of patients affected with CHARGE syndrome have one or more mutations on the gene CHD7. This gene encodes a specific protein involved in chromatin remodeling. It regulates gene expression by affecting the strength of binding between DNA and histones (basic proteins of the cell nucleus). The organs eye, ear and nose are particularly affected in CHARGE syndrome because the protein is produced especially in the cells of these organs. An autosomal dominant inheritance of the disease is possible. However, spontaneous mutation without a family history is more common.
Symptoms, complaints, and signs
The name CHARGE represents an acronym of the English names of the commonly occurring clinical pictures in this syndrome. These clinical pictures are as follows:
Colomb: A congenital coloboma of the eye. In this case, the orbital cleft does not close completely. Due to this circumstance, a visual defect develops. A number of visual disturbances may occur. Among others, visual field loss or sensitivity to light can be mentioned. Other eye problems, for example detachment of the retina, are also possible. Heart defect. In CHARGE syndrome, various heart defects can occur, some of which require surgical treatment. Atresia choane: Atresia of the choanae. The nasal passages may be closed or abnormally narrowed in CHARGE syndrome. Surgical treatment is sometimes necessary several times to keep the ducts permanently open. Retarded growth and development: decreased length growth and developmental delay. This symptom is present in CHARGE syndrome in almost every patient. However, it should always be medically ruled out that retarded growth is due to a deficiency of growth hormone. It is suspected that the developmental delays are due to the various sensory impairments, chronic diseases, and balance disorders. Genital abnormality. In people with CHARGE syndrome, genital abnormality primarily affects the external sex organs, which is why this symptom is easier to detect in male patients. In these, a reduced penis and nonpalpable testes are often present. Female patients may have reduced labia minora. Ear abnormality: Abnormality of the ear. In CHARGE syndrome, both the inner, middle, and outer ear may be affected. Common problems include deformities of the bones in the middle ear, chronic accumulation of fluid in the middle ear, a narrow or absent ear canal, abnormally shaped outer ears, and hearing loss. Not everyone affected by CHARGE syndrome has all the symptoms or clinical pictures, and they do not always have to be severe; the presence of some of these symptoms and only mild symptoms can also constitute CHARGE syndrome.
Diagnosis and course
A classification into major features and minor criteria is available for the diagnosis of CHARGE syndrome. The diagnosis is made on the basis of these features and criteria. The main criteria are coloboma of the eye, choanal atresia, a characteristic CHARGE ear, the malformation of the facial nerves (can lead to loss of the sense of taste, facial paralysis, sound sensation disorder and balance disorders, problems with swallowing).The secondary criteria are underdevelopment of the reproductive organs, developmental delay, heart defects, short stature, clefts in the facial region (can lead to further problems), tracheal fistulas, and the characteristic CHARGE face – there may be asymmetry of the face even if there is no paralysis of the face; an angular facial shape in which a broad, protruding forehead, flabby songs, a flat midface, and a small chin are prominent is also common. Children born with CHARGE syndrome often require emergency surgery, long hospital stays and constant medical monitoring. During the life of the affected, the need for surgical intervention increases. However, the condition often improves beyond what would initially be expected. The number of adults with CHARGE syndrome is relatively low, which may be attributed to the fact that CHARGE syndrome has existed as a distinct condition only since 1979. The number of adults living with CHARGE syndrome will therefore increase within the next few years, so that statements can then be reported on the conditions to be expected and the necessary surgical interventions in adulthood. It has to be said that a good development is very well achievable within the given possibilities. However, this requires care by medical and pedagogical specialists. Especially the parents can positively influence the development of their child suffering from CHARGE syndrome by supporting him within his possibilities. Parents should learn to understand their child’s difficulties caused by CHARGE syndrome. In this way, they can provide him with the support he needs to reach his full potential.
Complications
CHARGE syndrome causes a number of different complaints and symptoms. In most cases, there are various malformations and delayed development. The affected person primarily suffers from a congenital heart defect. In the worst case, this can lead to the death of the patient without treatment and must be treated surgically for this reason. Furthermore, there is a strong short stature and also a strongly delayed mental and psychological development. In many cases the patient is dependent on the help of other people in everyday life and cannot master this alone. Balance disorders and sensory disturbances occur. These can extremely limit the quality of life. The malformations can also affect the sexual organs and lead to abnormalities in these. It is not uncommon for those affected to feel ashamed of these complaints and thus suffer from inferiority complexes. CHARGE syndrome also causes hearing loss. A causal treatment of CHARGE syndrome is not possible. However, various surgical procedures can be applied to alleviate and limit the symptoms and discomfort of this disease.
When should you see a doctor?
In most cases, CHARGE syndrome does not require a new diagnosis. The symptoms may be recognized before birth or immediately after birth, so early treatment is also possible. A doctor should be consulted if the complaints and malformations of this syndrome lead to restrictions and dangers in the child’s everyday life. Especially the heart and kidneys of the child have to be examined, so that in case of diseases surgical interventions can be performed. Delayed development and mental retardation can be compensated by special support. A medical doctor should also be consulted in the event of a genital abnormality. If the affected person suffers from hearing problems or malformations of the ears, these complaints must also be alleviated and treated. In this way, complete deafness can be avoided. In most cases, the complaints are diagnosed by a pediatrician. The treatment itself is then carried out by the respective specialist.
Treatment and therapy
Causal treatment is not possible; therapy consists mainly of surgical elimination of the symptoms that occur, if this is possible. Corrections of the malformations are necessary for the most part. As part of these operations, prolonged hospital stays are common.
Outlook and prognosis
In general, CHARGE syndrome does not result in decreased life expectancy in the patient.The individual malformations and deformities on the body are corrected in various surgical procedures. Although these are associated with side effects and risks, they are the only way to treat CHARGE syndrome. If there is no treatment, there is no self-healing, but there is also no worsening of the symptoms. In most cases, the affected persons can lead an ordinary life after the corrections and are not restricted in their everyday life. However, a causal treatment of the disease is not possible, since it is a hereditary disease. After successful operations, no further complaints or compilations occur. If the symptoms of CHARGE syndrome are not corrected, those affected often suffer from psychological complaints or depression. Since in some cases the nasal passages may also be blocked, immediate surgery is necessary in this case, otherwise the child would die immediately after birth. The mental retardation and slowed development can only be treated to a limited extent in CHARGE syndrome. As a rule, patients suffer from mental retardation throughout their lives and are therefore dependent on outside help in their daily lives.
Prevention
Since it is a genetic and also very rare disease, prevention is not possible.
Follow-up care
Direct follow-up cannot usually be performed for CHARGE syndrome. In this case, the individual symptoms must be treated according to their severity, although the affected person can usually lead an ordinary life without restrictions. In this case, early diagnosis and treatment of CHARGE syndrome have a very positive effect on the further course and can prevent complications. Since the treatment of the syndrome mainly takes place with the help of surgical interventions, the affected person must recover after these interventions and generally be prepared for longer stays in a hospital. Here, contact with family and friends can also be very positive and have a positive effect on the course of the disease. However, the symptoms cannot always be completely eliminated, so a full cure cannot always be achieved. Since CHARGE syndrome is often also associated with psychological symptoms, psychological treatment should always be provided. Parents or relatives can also participate in this psychological treatment, since they are also affected by the disease. Due to the slowed development of the children, they are dependent on permanent support to compensate for this.
This is what you can do yourself
CHARGE syndrome is a genetic disease that cannot be treated causally. However, severe malformations, especially of the heart, can be detected during prenatal diagnosis. Since inheritance of the syndrome is possible, pregnant women in whose families or families-in-law have already been diagnosed with the disorder should attend all preventive examinations and consult the attending physician about CHARGE syndrome. If severe malformations or developmental disorders are expected, a medically indicated termination of pregnancy is possible. Parents who decide to carry the pregnancy to term should be aware in good time of the special burdens they will face. Children suffering from CHARGE syndrome usually require one or more emergency surgeries right after birth. The treatment of the disease is very intensive, especially during the first years, and involves regular hospital stays, doctor visits and permanent home nursing. This puts a great strain not only on the affected parents, but also on any siblings who may already be present. Families must therefore take organizational measures in good time to integrate the sick child and his or her special needs into everyday family and work life. In order to guarantee optimal support for the child according to his or her possibilities, not only competent doctors but also other specialists, for example special educators, speech therapists and physiotherapists, should be consulted at an early stage.
