Sunday, June 25, 2017

CHARGE Syndrome

ears1CHARGE Syndrome is a genetic disorder with multiple physical, sensory, and behavioral anomalies which occurs in approximately 1 out of every 10,000 births worldwide. Typically, it is caused by mutations in the DNA-binding protein-7 (CHD7) gene. Babies with CHARGE syndrome are born with life-threatening birth defects, including heart defects and breathing problems. Most have hearing loss, vision loss, balance problems, and delays in development and communication.


CHARGE Syndrome was first described in 1979 by Dr. B. D. Hall in a paper on a group of children who had been born with choanal atresia. The term CHARGE was not adapted until 1981 when the most common features of the disorder were established.

CHARGE is an acronym meaning:

Coloboma of the eye
Heart defects
Artesia of the choanae
Retardation of growth and/or development
Genital and/or urinary abnormalities
Ear abnormalities and deafness

Although very few people with CHARGE have 100% of its known features, the term is still used today. In 2005, researchers discovered a mutation in the gene CHD7 on chromosome #8. This gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE.

In most cases, the disorder results from new mutations in the CHD7 gene. The risk of inheriting the mutation from an affected parent is 1 to 2 percent. It affects males and females from all backgrounds and ethnicities.

Symptoms & Behaviors

The most common symptom is ear malformation and it is observed in 90% of patients. The ears are small, low set, protruding, and cup shaped. Deafness or hearing loss occurs in approximately 60% of cases. Presently, CHARGE is the leading genetic cause of deaf-blindness at birth.

The second most common symptom is colobama of the eye. It affects 70 to 80% of patients. It is usually bilateral and affects the posterior segment of the eye.

The third most common symptom is mild to moderate mental retardation. It is observed in 70 to 75% of patients.

Other symptoms can include growth retardation, heart anomalies, genital hypoplasia, low muscle tone, skeletal issues such as neuromuscular scoliosis, and orofacial clefting.

Children with CHARGE show marked delays in motor development. The average age of walking is three to four years. When they are able to walk, it is often with a characteristic gait. Although developmental delays are expected, cognitive impairment is 50% or less.

Behavioral issues of children with CHARGE may include sleep problems, anxiety, withdrawal, self-injurious behavior, OCD tendencies, and inflexible behavior. While some behavioral issues are manageable with medication, research shows that the drugs often lose their effectiveness.


Before the genetic findings and refinement of the criteria, diagnoses were made using solely the CHARGE acronym. Today, a genetic specialist can perform DNA testing to determine if a mutation exists on the CHD7 gene. It is important to note, however, that genetic testing is only successful in two-thirds of cases. No one feature is required to make a diagnosis of CHARGE; diagnosis today is based primarily on a combination of major and minor characteristics and clinical features.

Before CHARGE was recognized, individuals were seen as having a collection of unrelated anomalies and therefore, the treatment they received was uncoordinated. Now, a diagnosis of CHARGE can result in a collaboration by many specialists so that children can receive the help they need to reach their potential.

Other disorders which can look like CHARGE include VATER Association, Retinoic Embryopathy, and Kabuki Syndrome.


Most children with CHARGE have problems in more than one organ system, and typically undergo ten surgeries before the age of 3. Early mortality rates were 10 to 20%, but now with cardiac treatments, survival rates have improved.

While there is no cure for the disorder, children will benefit from physical therapy (gross motor skills), occupational therapy (fine motor skills), speech therapy, and possibly vision and hearing therapy. Early intervention from audiologists and speech-language pathologists can significantly affect functioning level.

It’s important to realize that sensory loss can affect a child’s cognitive ability and behavior. A deficit in hearing or vision may provide difficulties in effective communication, but it is not impossible. Ear problems, for example, can cause balance issues which then affect motor coordination, as well as communication.

Early Intervention programs in many states offer programs to help children from birth to age three at no charge. Click here to learn more about Missouri’s First Steps early intervention program. Contact the Department of Mental Health or your local school district to find out what programs and services are available in your area.

If you are interested in services to help with your child’s hearing or vision loss, contact Missouri’s DeafBlind coordinator or the one in your state.

The Future

As the child grows past developmental stages, the doctor’s visits and therapy sessions will most likely taper off. These children may have a multitude of problems, but they can grow into adulthood and lead healthy and happy lives. Many adults with CHARGE live independently and some are college graduates.

To learn more about CHARGE Syndrome, check out The Charge Syndrome Foundation’s website. 

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