CHARGE Syndrome in Babies - Causes, Symptoms and Treatment

CHARGE Syndrome in babies is a complex genetic dysfunction that may be diagnosed at birth or some years later. It mostly happens due to a change or variant in a gene. This syndrome can manifest in many ways and can be tricky to diagnose due to confusing symptoms. More research is needed to identify ways to recognize this syndrome with diagnosis and testing.

What Does CHARGE Syndrome Mean?

Charge Syndrome is a rare birth disorder in babies that affects them with various conditions. The effects differ from one baby to another.

CHARGE is an acronym for

Colobomas
Heart defects
Atresia of the Nasal Choanae
Restriction of development
Genitourinary abnormalities
Eat Abnormalities

This syndrome also can throw up other conditions like cleft lip and palate, difficulty in breathing, vision and hearing difficulties, problems in swallowing, endocrine abnormalities, etc. in babies.

What Causes CHARGE Syndrome in Babies?

CHARGE Syndrome is a genetic abnormality. When there is a change or variant in any gene it usually causes this syndrome. But genetics may not always be the root cause, as there are individuals with changes or variants in genes without any symptoms of CHARGE Syndrome.

Also, this genetic change is not always inherited from the parents. Sometimes genetic change develops in the fetus. This genetic change occurs with every pregnancy. But CHARGE Syndrome will rarely occur with a genetic mutation in the baby. There can be only one case of such syndrome in a family and not more than that. It is hardly possible to happen.

CHARGE Syndrome (CS) affects the gene known as CHD7. The variant in this gene changes the way the gene functions. The CHD7 gene is an important gene used throughout an individual’s life and also during conception. To find out whether CS affects this gene, you can go for a genetic test. This will help to find out if a baby has CHARGE Syndrome. If you know about the changes that take place in the gene with the characteristics of CS, you will not have confusion in the cases of other disorders causing the same symptoms.

How Common is CHARGE Syndrome?

CHARGE syndrome is an extremely rare genetic anomaly. The cases of CS are found only in 1 in 8500 to 10000 newborns. Male and female babies have equal chances of getting this disorder. It occurs equally among all countries and ethnicities. There is no data available on any community or ethnicity being more prone to this disorder.

Signs and Symptoms of CHARGE Syndrome in Babies

Diagnosing CS in babies is difficult as there are various findings. Each case is unique. Even if the families inherit it, it is difficult to detect. Some of the common symptoms that make it easy to diagnose cases of CS are below:

1. Missing parts of the Eyes

Coloboma is a scientific name for such a condition. A baby with CS may have small eyes or missing parts in the eye or eyes. This causes poor or no vision.

2. Blockage in Nose Passage

The passage from the nose to the throat is narrow or blocked. The medical term for this is Stenosis or Atresia. It can lead to problems like breathing issues, choking, and difficulty in swallowing.

3. Lack of Sense of Smell

The sense of smell in babies decreases or they lose it.

4. Facial Paralysis

You will see babies with paralysis on both sides of the face or weak faces.

5. Hearing Loss

A baby with CS may have hearing loss.

6. Unique Facial Features

The facial features in babies with CS are different from the infants with no CHARGE Syndrome. You will notice a square-shaped face, arched-shaped eyebrows, large eyes, droopy eyelids, uneven face, distinct nose bridge, L-shaped palm or hockey-shaped crease in the palm, small chin, etc.

7. Difficulty With Swallowing

Babies with CHARGE find it hard to suck or swallow leading to gagging of food in the lungs. Thus, these babies require a tube for feeding that reaches the stomach directly.

8. Physical Deformities

There are also other deformities like long bones of arms and legs, abnormal curves in the spine, babies born with extra fingers or toes, etc.

[Read : Polydactyly(Extra Fingers) in Babies]

9. Additional Symptoms

Some other symptoms make it tough to diagnose the syndrome. They are as under:

Heart ailments
Cleft lip or palate
Kidney problems or absence of a kidney
Underdeveloped genitals in male and female babies like small penis and poorly developed labia and uterus.
Growth deficiency
Low growth hormone levels
Issues With Weight Gain
Delay in achieving milestones like walking, etc.
Poor speech and communication, major learning disabilities, etc.

How is CHARGE Syndrome Diagnosed in Babies?

Diagnosing CHARGE syndrome may be a tricky proposition. The genetic examination for the CHD7 gene to examine CS is not always available. Also, the cases of CS are not always related to CHD7 changes. Hence, there is a need for a proper diagnosis of CS with a team who have wide knowledge about various medical conditions. A medical geneticist who has proper knowledge of CS should be a part of the process. This helps to get a correct diagnosis.

Treatment For CHARGE Syndrome

CHARGE syndrome is a severe problem and affects many parts of the body. The treatment for this differs from age to age. So, it is pivotal to start the treatment early as per age.

The following are the treatments for CHARGE Syndrome

1. Therapies

Babies with CS need therapies and medical care. Most babies with CS have hearing or vision problems. This delays their development and leads to problems with effective communication skills. This also impacts the behavior of a child later in life causing frustration. Therapies help overcome some of these difficulties. Speech therapy will be needed to help the baby to improve communication.

2. Surgeries

If the baby has a cleft lip or palate, Atresia, or heart problem, surgery will be needed to correct these defects.

[Read : Cleft Lip In Babies]

3. Medications

Doctors may recommend medications to help with various physical conditions.

4. Continuous Care

A feeding tube will help a baby to swallow food without hassle till they learn to swallow. It is important to wear hearing aids to improve hearing defects. Along with medical treatment, ongoing care is also vital. It includes reading and interacting with the babies having CS. This will promote learning and development in them.

5. Family Involvement

Families need to be at the forefront in the medical care of babies with CS as they know their priorities and needs best. It is pivotal to understand their needs throughout life. With early treatment and proper care, they can effectively participate in life like in school, at home, or in other public places later when they grow up.

CHARGE syndrome in babies is very rare and occurs in only a few newborns. If you have any doubt regarding any symptoms that is similar to CS, you can always check with a doctor to confirm. Being aware of the diagnosis methods and treatment options will help you and your baby wade through this condition.

FAQ’s

1. What Age Does CHARGE Syndrome Occur?

CHARGE Syndrome is a congenital birth defect that occurs at birth. But diagnosis or detection may happen either at birth or a few weeks, months, or years later. This syndrome is associated with older paternal age.

2. Is CHARGE Syndrome Autism?

No, CHARGE syndrome and autism are not the same. Sometimes autistic behavior is confused with charge syndrome. There are common challenges in both syndromes which is why future research is required in both fields.

3. Does CHARGE Syndrome Affect the Baby’s Brain?

Yes, CHARGE syndrome does affect the brain. Brain anomalies are reported in babies with CHARGE Syndrome. Many suffer from low cognitive abilities, but there may be chances of babies with normal intelligence too.

CHARGE Syndrome in Babies – Causes, Symptoms and Treatment