CHARGE syndrome is considered a rare diagnosis, caused by a congenital genetic mutation. The syndrome affects several organs, often involving hearing loss, visual impairment, and challenges with balance, all which require a great need for medical treatment and special educational efforts.
The name CHARGE syndrome is an acronym, created in 1981, with six criteria that initially described the syndrome, with the diagnosis requiring the presence of four out of six features. However, this acronym is no longer used for diagnosing CHARGE syndrome.
The acronym:
C: Coloboma (a congenital malformation of the eye causing defects in the lens, iris, or retina).
H: Heart anomalies (different types of congenital heart conditions).
A: Choanal atresia (a congenital narrowing of the back of the nasal cavity that causes difficulty breathing).
R: Retardation of growth and/or development.
G: Genital anomalies (including hormonal anomalies).
E: Ear anomalies and/or deafness (physical deformations and/or deafness/reduced hearing).
Today, we know that at least 60 percent of the persons with the clinical diagnosis have a mutation of the CHD7 gene. This means that a blood sample can determine whether the syndrome is present.
CHARGE syndrome has other features not included in the acronym, such as an affected cranial nerve that can lead to facial palsy. Different definitions of the diagnostic criteria have been made over the years.
Children with CHARGE syndrome often face life-threatening conditions from birth, such as heart problems and breathing difficulties. Frequent and lengthy hospital stays, surgery, and other treatments are common. Problems with swallowing and breathing can also cause difficulties when the child returns home from the hospital, and these problems sometimes persist throughout their lives.
The senses of smell and taste, hearing, vision, balance, and the sense of movement are also frequently affected. The impairment of multiple senses results in delayed development in children. At the same time, intellectual capabilities often fall within the normal range.
Those are the medical facts. However, a person with CHARGE syndrome is so much more, and that is why we have written this publication.
C: Creative
H: Humorous
A: Active
R: Regulative
G: Goal directed
E: Explorative