CHARGE Syndrome: Symptoms, Diagnosis and Treatment

What CHARGE Stands for and How to Make Sense of This Complex Medical Disease

Charge Across Europe. Credit: www.chargeacrosseurope.com / Google Images

In 1981, the term CHARGE was created to describe clusters of birth defects that had been recognized in children. CHARGE stands for Coloboma (eye), Heart defects of any type, Atresia (choanal), Retardation (of growth and/or development), Genital anomaly, and Ear anomaly.

It was recommended that diagnosis of the syndrome be based on the presence of 4 of these physical features. Since then, physicians have recognized that this definition and rule for diagnosis do not take into account many other physical characteristics of CHARGE syndrome, or the fact that some children with the syndrome did not meet the criteria for diagnosis.

In addition, a gene associated with CHARGE syndrome has been identified on chromosome 8. Although it is now known that CHARGE syndrome is a complex medical syndrome caused by a genetic defect, the name has not changed.

CHARGE syndrome occurs in approximately 1 in 10,000 births worldwide, and usually the infant is the only child in the family with the syndrome.

Symptoms of CHARGE Syndrome

The physical attributes of a child with CHARGE syndrome ranges from near normal to severe. Each child born with the syndrome may have different physical problems and some of the most common features or birth defects are:

C—Coloboma of the Eye:

  • This ailment affects about 80-90% of people diagnosed with CHARGE syndrome.
  • Consists of a fissure (crack) usually in the back of the eye. 
  • One or both eyes may also be too small (microphthalmos) or missing (anophthalmos).

Cranial Nerve Abnormality: 

  • 90%-100% of CHARGE syndrome patients are missing (or have a decreased) a sense of smell.
  • 70%-90% have difficulty swallowing. 
  • Facial paralysis (palsy) on one or both sides (50%-90%).

H—Heart Defect: 

  • 75% of individuals are affected by different types of heart defects.
  • The most frequent type is a hole in the heart (septal defect).

A—Atresia of the Choanae: 

  • The back of the nasal sinuses on one or both sides is narrowed (stenosis) or doesn't connect with the back of the throat (atresia). 
  • 35%-65% of individuals are affected by this defect.

R—Retardation (Mental and Growth)

  • 70% of individuals affected by CHARGE have IQs that may range from normal to severe retardation.
  • 80% of individuals are affected by growth retardation—First detected when the infant fails to grow normally in the first 6 months of life.
  • Growth retardation is due to growth hormone deficiencies and/or feeding difficulty (the child’s growth tends to catch up after infancy).

G—Genital Underdevelopment: 

  • Underdeveloped genitals are a telltale sign of CHARGE syndrome in males, but not so much in females. 
  • 80%-90% of males are affected by this while 15%-25% of female patients are affected.

E—Ear Abnormalities:

  • Ear abnormalities affect 95%-100% of individuals (where the ear on the outside is malformed).
  •  60%-90% percent experience problems in the inner ear, such as abnormal semicircular canals or nerve defects which may result in deafness.

There are many other physical problems a child with CHARGE syndrome may have in addition to these more common symptoms listed above.

How a Child Is Diagnosed With CHARGE Syndrome

Diagnosis of CHARGE syndrome is based on the cluster of physical symptoms and attributes displayed by each child. The 3 most telling symptoms are the 3 C’s: Coloboma, Choanal atresia, and abnormal semicircular Canals in the ears.

There are other major symptoms, such as the abnormal appearance of the ears, that are common in CHARGE syndrome patients but less common in other conditions. Some symptoms, such as a heart defect, may also occur in other syndromes or conditions, and thus may be less helpful in confirming a diagnosis.

An infant suspected of having CHARGE syndrome should be evaluated by a medical geneticist who is familiar with the syndrome. Genetic testing can be done, but it is expensive and only performed by certain laboratories.

How CHARGE Syndrome Is Treated

Infants born with CHARGE syndrome have many medical and physical problems, some of which, such as a heart defect, may be life-threatening. A number of different types of medical and/or surgical treatments may be needed to treat such a defect.

Physical, occupational, and speech therapy can help a child reach his/her developmental potential. Most children with CHARGE syndrome will need special education because of the developmental and communication delays caused by hearing and vision loss.

Sources:

Sanlaville, Damien, & Alain Verloes. "CHARGE syndrome: An update." European Journal of Human Genetics 15(2007): 389-399.

Verloes, Alain. "Updated diagnostic criteria for CHARGE syndrome: A proposal." American Journal of Medical Genetics 133A(2005): 306-308.

"About CHARGE." CHARGE Syndrome Foundation. Accessed on Feb 18, 2016.

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