What is CHARGE Syndrome?

CHARGE syndrome is a congenital genetic disorder marked by the occurrence of a diverse range of defects and disabilities. In fact, “CHARGE” is the abbreviated form of the varied abnormalities associated with the syndrome, as listed below:

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  • C- Coloboma of eye
  • H- Heart problems
  • Atresia of choanae
  • R- Retardation of development or growth
  • G- Genital disorders
  • E- Ear disorders

This syndrome is a very complex condition marked by widespread physical and medical abnormalities that vary from one affected child to another. In most cases, affected babies do not have a family history of the disorder. The incidence rate of the disorder is around 1 in every 10,000 births globally.

Some of the deadly birth defects that affect CHARGE syndrome babies include breathing difficulties and extensive cardiac defects. After birth, the babies may remain hospitalized for several months and undergo a variety of treatments including surgeries. After discharge, they may continue to suffer from breathing and swallowing problems as well as other uncommon symptoms like loss of vision and/or hearing, delayed communication and development, and imbalance.

Education and medical therapies are often required by all patients of CHARGE syndrome for most part of their lives. They are however still able to match the normal levels of physical, social, educational, and medical expectations.

Symptoms of CHARGE syndrome

The signs and symptoms  tend to differ from one affected child to other. Also, the severity of these symptoms are also varying. A majority of the symptoms  are not isolated to just this condition; it may also occur in children without the genetic disorder.

Some of the common symptoms of CHARGE syndrome are listed below:

  • Nearly 90 percent of the people affected by CHARGE syndrome tend to elicit coloboma of the eye. It is possible for a single eye, or even both the eyes, to be very small or absent.
  • Presence of feeding difficulties and/or lack of growth hormone may contribute towards delays in growth or stunted growth. It is typically notice during the initial 6 months after birth. However, after the passage of some time, the baby may start growing normally.
  • Anomalies of the cranial nerve are present which can trigger a case of facial paralysis, reduced sense of smell, and/or swallowing difficulties.
  • About 30 to 60 percent of infants affected by CHARGE syndrome may also experience choanal atresia. In this, the back portion of the nasal sinuses is constricted and may not join with the rear end of the throat.
  • Different kinds of cardiac conditions are also evident. The most common cardiac defect is the occurrence of a hole in the organ.
  • CHARGE syndrome affected individuals may also suffer from mental retardation. The IQ may be normal or the patients may experience severe mental retardation.
  • Most patients may also experience varied ear defects, including nerve abnormalities, malformation of the outer part of the ear, and defects of the semicircular canals. Severe ear anomalies may result in loss of hearing or deafness.
  • There is underdevelopment of the genitals.
  • Other uncommon symptoms associated with CHARGE syndrome include smaller than normal kidneys, dislocated or absent kidneys, reflux, and other kidney problems; and cleft palate, sub-mucous instance of cleft palate, and cleft lip which may occur along with cleft palate.

Causes

CHARGE syndrome is a congenital disorder caused due to mutations of a gene called CHD7 which occurs in the long arm of chromosome 8. CHD7 gene is responsible for passing signals which can turn on or off other kinds of genes. Over 50 percent of babies diagnosed with CHARGE syndrome show changes in the CHD7 gene.

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In most instances, the parents of a child with CHARGE syndrome did not suffer from associated genetic defect. Thus the genetic mutation newly occurs in the baby. Currently, studies are continuing to find out the other genes which are responsible for causing the syndrome.

Diagnosis

Doctors may recommend further testing to confirm a diagnosis of CHARGE syndrome after checking the physical signs and symptoms exhibited by the child. Doctors will typically check for coloboma, choanal atresia, semicircular ear canal defects, and the shape of ears. Cardiac problems tend to occur as a symptom of many different conditions and hence doctors typically do not consider it as a diagnostic symptom.

Additional testing for CHARGE syndrome involves the following:

  • Genetic testing such as Karyotype which verifies the health of chromosomes 14, 9, and 22. Testing for mutation of CHD7 is also carried out. In individuals with no mutation of the CHD7 gene, the test reports are further analyzed/used in a comparative genomic hybridization.
  • Hearing tests for checking audiometric response and auditory brainstem function. It also verifies the severity of conductive and sensorineural hearing problems or loss.
  • Biochemical testing of electrolytes, blood urea nitrogen, T-cells, calcium, and creatinine.
  • Holter monitoring, echocardiogram, and other kinds of cardiac system examinations.
  • Analysis of vision, electro-retinogram to check the severity of vision loss, and testing of functional vision.
  • Luteinising Hormone Releasing Hormone tests, Human Chorionic Gonadotropin, and other kinds of hormonal investigations.
  • Varied radiological tests such as MRI, CT, DEXA scan, abdominal ultrasound, and cystourethrogram.

Treatment

Treatment of CHARGE syndrome is aimed at correcting the underlying defects, managing the associated symptoms, and preventing the onset of health complications. A few common treatment options are listed below:

  • Dilation of the choanoa or nasal pathways can correct choanal atresia.
  • Relevant growth hormones are given to correct underdevelopment of genitals, delayed growth, and retarded/stunted growth.
  • Deformed ear, asymmetry of the face, etc. can be corrected via plastic surgery.
  • Heart defects are often corrected via surgery.
  • Seizures are treated with anti-seizure drugs.
  • It is important for children with CHARGE syndrome to under hearing and vision tests at least 2 times a year to prevent and manage any hearing or vision problems.

CHARGE syndrome life expectancy

Life expectancy of individuals with CHARGE syndrome is dependent on the number of abnormalities that are present and its severity levels as well as the success of the varied surgeries and other treatment options. Studies have indicated that about 30 percent of affected infants tend to die within the first year of life. The rest 70 percent of infants tend to reach at least 5 years of age. Thus, CHARGE syndrome life expectancy is quite low.

 

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