How is CHARGE syndrome treated?
Babies born with CHARGE syndrome are often cared for in a specialist center staffed by pediatric otolaryngologists and other medical specialists. Doctors perform surgery to correct life-threatening abnormalities as soon as possible after birth. Babies may also receive hormone therapy to correct genital abnormalities.
How does CHARGE syndrome happen?
When CHARGE syndrome is caused by mutations in the CHD7 gene, it follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
How is CHARGE syndrome diagnosed?
Health professionals diagnose CHARGE syndrome by looking at a child’s medical features. Genetic testing is also recommended for diagnosis. In most cases, genetic testing confirms the CHARGE diagnosis.
How common is CHARGE syndrome?
CHARGE syndrome is a rare disorder, affecting 0.1-1.2/10,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE than those described in the medical literature.
Can you live a normal life with CHARGE syndrome?
The life expectancy for a newborn diagnosed with CHARGE syndrome varies based on the severity of their symptoms. Infants with severe symptoms have a high mortality rate within the first five years of life. For children who have mild symptoms, their lifespan could be normal with lifelong, supportive treatment.
Can children with CHARGE syndrome talk?
About 60% of children with CHARGE acquire symbolic language and communicate with spoken language, signs, and/or visual symbols. The mechanics of speech may be affected by craniofacial anomalies, breathing problems, and clefts.
Is CHARGE syndrome autism?
Abstract. Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism.
What is the life expectancy of a person with CHARGE syndrome?
Does CHARGE syndrome affect the brain?
Cranial nerve anomalies are very frequent in CHARGE. Structural brain anomalies: A variety of structural malformations of the brain have been reported in children with CHARGE. Pretty much any brain anomaly is consistent with CHARGE; none are extremely common.