CHARGE syndrome and hearing loss

CHARGE syndrome, a disorder that affects many areas of the body, is one cause of hearing loss. While rare, it is complex, as it involves a cluster of birth defects.

What is CHARGE Syndrome?

CHARGE syndrome is generally known as a specific set of medical problems, congenital disabilities, and other abnormalities. Many of them are life threatening. It can also cause developmental issues. Babies with CHARGE syndrome have characteristic signs in the shape of their ears. They may have obvious symptoms in the form of their external ears, which tend to protrude or lack lobes. They may also have smaller semicircular canals or not have any at all. Due to the nature of the condition and how it impacts the ears, most people born with CHARGE syndrome will have hearing loss and balance issues. Visual difficulties are also common.

Babies born with multiple anomalies and any one of the following should be assessed for CHARGE syndrome:

• Coloboma: Affects the eyes as part of the tissue that the human eye is made of is missing.
• Choanal atresia: One of the rarer symptoms, this means that one or both nasal passages are blocked by bone or tissue.
• Typical CHARGE ears: Exhibiting the physical characteristics that are present in CHARGE ears.
• CHARGE vestibular phenotype: The semicircular canals in the ear are smaller than average or even completely absent.

What Causes CHARGE Syndrome?

CHARGE develops in unborn babies, as undeveloped fetuses. The shortened acronym format stands for:

• C: Coloboma
• H: Heart defects
• A: Atresia (choanal)
• R: Retardation of growth and development
• G: Genital underdevelopment
• E: Ear abnormalities and sensorineural hearing loss

A mutation in the CHD7 gene usually causes the condition. The current prevalence of CHARGE is 1 in 10-15000. According to the National Organization for Rare Disorders, “Although many features of CHARGE are apparent at birth, some features will not become apparent for weeks, months, or perhaps years later. The recurrence risk of CHARGE for parents with one affected child is low, around 2-3 percent. The recurrence risk for an adult with CHARGE to have an affected child may be as high as 50 percent.”

Read more: What to do early on for your deaf baby

What Treatment is Available for CHARGE?

As the condition involves several different abnormalities or symptoms, there are several types of treatment. CHARGE patients are likely to require at least one form of treatment for their condition. This can include surgically correcting abnormalities like choanal atresia or some heart defects, and therapies such as feeding or speech therapy. Hearing loss and vision problems may also need treatment.

If you’re concerned about having the gene mutation, or the risk of passing on CHARGE syndrome, you can speak to your primary care practitioner about gene analysis and gene therapy.

Hearing Loss and CHARGE

Sensorineural hearing loss is a key symptom of CHARGE. It often stems from underdeveloped cochleas or underdeveloped or missing semicircular canals. Some defects can be repaired or improved surgically. Damage to the cochlear is usually permanent. Sensorineural hearing loss is almost always permanent, but cochlear implants or hearing aids may be options.

“Sensorineural hearing loss is a key part of CHARGE.”

CHARGE-related hearing loss covers the whole spectrum of hearing loss. However, about half of children born with it live with profound to severe hearing loss.

The biological systems that allow someone to hear can all be affected by CHARGE. For example:

• External ears: Can be misshaped, which may or may not affect hearing loss, but can affect the ability to wear a behind-the-ear (BTE) hearing aid. The ear canals may also be restricted or blocked entirely by bone or tissue.
• Middle ears: Malformations in the middle ear affect the frequencies someone can hear. It can also lead to more ear infections, especially in adulthood, where you’re more at risk of losing your hearing (or more of your hearing) to an infection.
• Cochlears and semicircular canals: Can be hypoplastic, misshaped, or missing completely (in the case of semicircular canals). Damage to this part of the auditory system can cause balance issues, dizziness, and hearing loss.
• Auditory neural structures: Auditory nerves can be damaged, smaller in diameter, or missing entirely.

The good news is that “despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations,” says the CHARGE Syndrome Foundation. “One of the hidden features of CHARGE syndrome is the determination and strong character these children display.”

Read more: On being a mom of a child with hearing loss

• Author Details

Author Details

melaniejayneashford

Mel is a hard-of-hearing writer from the UK. She has moderate-severe hearing loss by American definitions and moderate hearing loss by British measurements. She relies on hearing aids and lipreading. She lives in Wales with her French Bulldog puppy and mischievous tortoiseshell cat. Mel identifies as a demisexual lesbian.