As a result of this complexity, each individual may have a unique set of physical disorders, a unique combination of sensory deficits, and a unique pattern of behavior. Thelin and Swanson (2006) have given a description of the most important anomalies. Within individuals, each of the 20+ possible anomalies may be absent or present (varying in degree of expression from mild to severe). With multiple sensory deficits, the effects are often subtle and may manifest themselves as unique challenges in communication, learning, and behavior. However, the combination of these two sensory deficits almost always results in overall challenges that are much greater than would be expected from the sum of the two. The most common finding is partial loss of hearing and vision. Complete deafness and blindness are very rare. Though there may be deficits in every sensory modality, for educational purposes, CHARGE is considered to be a deaf-blind syndrome. The vast majority of genetic mutations are sporadic rather than familial. At present, diagnosis is based on clinical evaluation of the presence of certain major and minor features (Blake et al., 1998) and/or the presence of microdeletions in the CHD7 gene on chromosome 8 (Vissers et al., 2004).
![charge syndrome charge syndrome](https://ai2-s2-public.s3.amazonaws.com/figures/2017-08-08/9491d39f3b8e00c304eb68dde132da2dfd147943/6-Figure3-1.png)
At present, the criteria include more than 20 physical anomalies, deficits in all sensory modalities, and a behavioral phenotype that is unique. Since 1981, the diagnostic criteria have been revised, and they will continue to be revised. Pagon and her coworkers in 1981 (Pagon, Graham, Zozana, & Yong, 1981) to describe six features of a complex genetic disorder. However, some of the characteristics seen in individuals with CHARGE can also be seen in other populations, such as those with severe developmental delays, autism spectrum disorders, and auditory neuropathy/dyssynchrony. Audiologic evaluation of individuals with CHARGE syndrome can be challenging as a result of characteristics that are unique to this population. It is rare (1 in 15,000 births) and complex.
![charge syndrome charge syndrome](http://www.mccdcares.com/kids/Michael_CHARGE_2004.jpg)
KrivenkiĬHARGE is a syndrome that many audiologists have not encountered.