Charge Syndrome

CHARGE Syndrome is a major cause of deafblindness, characterized by many typical symptoms. The name CHARGE is an acronym for the six characteristics that are often present. These are:

  • Coloboma (key hole type opening in iris and retina)
  • Heart defect
  • Atresia of the choanae (blockage of the passages between the nasal cavity and the naso-pharynx)
  • Retarded growth and/or development
  • Genital hypoplasia
  • Ear anomalies/deafness

Since the syndrome’s first description by Hall, in 1979, several other characteristics have been identified, including balance problems. There was uncertainty about its genetic origin until 2005, when a group of Dutch scientists discovered a specific gene that causes the syndrome. These researchers determined that a gene called CHD 7hd (located on chromosome 8) was defective, causing the dysfunction of multiple organs. While this defect is hereditary in a small percentage of people with CHARGE Syndrome, in by far the majority of cases it results from a spontaneous mutation of the gene (Jongmans et al., 2006).

The degrees of physical and mental impairments vary considerably among people with CHARGE Syndrome. For example, the retinas of some are almost completely closed (only minor colobomas in the periphery of the retina), while others have retinas with large “key-holes,” involving the macula (a highly sensitive area of the retina that enables us to see fine details). As a result, someone with this syndrome may have a visual impairment that is mild, severe, or somewhere in between.

People with CHARGE also experience different degrees of hearing loss. Some are profoundly deaf, while others have useful residual hearing. The muscle strength of children with CHARGE may also vary, from so low (hypotonia) that a child will not learn to walk independently until quite late in life, to more normal tone that supports walking at around two years-of-age.

As a further complication, the majority of children with CHARGE Syndrome lack the organ of balance. This has repercussions for walking, as well as for the development of necessary learning skills. It has also been shown, through brain imaging techniques (magnetic resonance imaging and computed tomography), that people with CHARGE Syndrome have an array of structural cerebral anomalies that correlate with deficits of impulse control, sleeping problems, and aggressive behaviour. Poorly modulated sensory systems are very common in this population (Brown, 2005). Giving a person with CHARGE Syndrome insufficient time to integrate sensory information may lead to severe outbursts of anger. Detailed descriptions about how to effectively deal with these behaviours can be found in van Dijk, J. & de Kort, A. (2005), Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome, published in the Journal of Medical Genetics. You can download the full text, including the references, from this website, by clicking here. It can also be found at: http://www.chargesyndrome.org/resources-articles.asp.

To learn more about CHARGE Syndrome, go to: http://www.chargesyndrome.org/resources-articles.asp.

For information about the CD-ROM, Charge Syndrome Revisited (2007), visit our webshop. 

For a more detailed description of syndromes, including Congenital Rubella Syndrome, Usher Syndrome and CHARGE Syndrome, please consult the article, Deaf children with severe multiple disabilities, in The Oxford Handbook of Deaf Education (2010), edited by Mark Marschark and Patricia Spencer.

Additional information about family planning and CHARGE Syndrome can be found in Actual News (Jan's weblog).

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