CHARGE Syndrome Life Expectancy

CHARGE syndrome is a rare genetic condition that affects many parts of the body. It is present from birth and varies a great deal from one person to another. That variation is the key to understanding life expectancy: the outlook depends mostly on how severe a person's birth defects are, especially of the heart and airway, rather than on the diagnosis itself.

What is CHARGE Syndrome?

CHARGE is an acronym for some of the features first noticed in children with the condition:

• Coloboma: a gap or hole in part of the eye (such as the iris or retina), which can affect vision
• Heart defects
• Atresia of the choanae: a blockage or narrowing of the passages at the back of the nose, which can make breathing difficult
• Restricted growth and delayed development
• Genital and urinary differences
• Ear differences, including hearing loss and problems with balance

Today we know that many other features can be part of CHARGE syndrome, including problems with the nerves that control swallowing and facial movement, cleft lip or palate, a reduced or absent sense of smell, and an underdeveloped balance organ in the inner ear. CHARGE syndrome is the most common genetic cause of combined deafness and blindness (deafblindness) present from birth.

In most people with CHARGE syndrome, the cause is a change (variant) in a gene called CHD7. This usually happens for the first time in the affected child rather than being inherited from a parent.

How does CHARGE Syndrome affect life expectancy?

The first few years are the riskiest. Mortality is highest in early life, particularly in babies born with complex heart defects. These are often made more dangerous by breathing and feeding problems. A blocked nasal airway can make breathing difficult from birth, and problems with the nerves that control swallowing can lead to feeding difficulties and choking. Many children need several operations, and anaesthesia carries extra risk in CHARGE syndrome.

Risk remains raised after early childhood. After the first two or three years the risk of death falls, but it stays higher than in the general population. Children and adults with CHARGE syndrome often have frequent illnesses, infections and hospital stays. In childhood, adolescence and adulthood, the main risks are remaining heart problems, infections, choking or inhaling food or fluid (aspiration), breathing problems including sleep apnoea, and possibly seizures. Some families have also reported serious bowel problems such as twisting or blockage of the intestine.

Many people live a normal lifespan. Despite these risks, many people with CHARGE syndrome can have a normal life expectancy. Adults with CHARGE syndrome in good health in their sixties have been described. Because the condition varies so much, the best guide to an individual's outlook is their own medical team.

How can life expectancy be improved for people with CHARGE Syndrome?

Good care makes a real difference, especially early on:

• At birth, the first priority is a safe airway. Babies may need surgery to open a blocked nasal passage and treatment for heart defects.
• Feeding support such as a feeding tube may be needed while swallowing develops. Swallowing problems often improve gradually with time.
• Careful planning for surgery and anaesthesia, because breathing problems during and after procedures are more common.
• Prompt treatment of infections, and attention to choking and aspiration risks.
• Regular check-ups across several specialities, including heart, hearing, vision, growth, hormones and sleep.
• Support for development and communication. Many people with CHARGE syndrome have both hearing and vision loss and benefit from specialist deafblind education, sign or tactile communication, and physiotherapy for balance.

With this kind of coordinated care, many children with CHARGE syndrome grow into adults who live full lives, although most will need some level of support throughout.