The seven minor features are congenital heart defect, cleft lip or palate, growth deficiency, TE fistula or esophageal atresia, unique facial features, genital hypoplasia, and upper body hypotonia. The four major features are coloboma, choanal atresia, cranial nerve anomalies (nerves 1, 7, 9, 10) and the unique characteristic “CHARGE ear” involving physical shape of the outer ear and abnormalities to the midde and inner ear. For a clinical diagnosis of the syndrome, three or four majors or two major and three minor features of CHARGE Syndrome must be present ( Blake et al., 1998 modified by Davenport et al., 1986). When individuals with CHARGE Syndrome do not present with Deafblindness they often benefit from similar approaches in education and habilitation ( Brown, 2005). CHARGE Syndrome is a complex genetic syndrome which often results in Deafblindness. This study focused on issues of identify in emerging adults with CHARGE Syndrome. The specialized methodology used in this study demonstrates that individuals with CHARGE Syndrome can be active participants in identity research that realize rich and accurate data. This is in contrast to the role in which friends often impact these components of ones' own identity. Furthermore and unexpected, Janosch's participation in the Mangas community serves as a primary source of social and emotional support, forms his construction of “togetherness” and strongly influences his concept of the relevance of family. Janosch demonstrated through this research process that the relevance of animals and the topic of tolerance take a leading role in the formation of his identity. It becomes clear that Janosch does not associate his core identity with CHARGE Syndrome but rather from alternate origins of self. This research initiative uses a single case study of a young man: Janosch. This provided different avenues to the construction of meaning that formed an understanding of identity from the voices of individual themselves. Analysis of the resulting data was viewed according to several theoretical frameworks applied to the core narrations and the resources. The CLET (Collage Life Story Elicitation Technique) is a protocol to support individuals in their efforts to create their own life story. The methodological approach used in this study included structured interviews embedded within the Collage Life Story Elicitation Technique.

This study introduces a method with which it was possible to collect differentiated data from individuals with CHARGE Syndrome themselves through a guided creation of pictorial collages and a specialized interview technique based on their collages. However, identity research shifts the paradigm to the individual and their unique personality, which encourages professionals to apply their support or services to the human being rather than the disability. A review of the literature demonstrates that the vast majority of research regarding CHARGE Syndrome focuses on the medical, developmental, and family structures. This case study focuses on the development of identity of individuals with CHARGE Syndrome which is of concern to individuals with CHARGE Syndrome, their parents and the various professionals that provide support and service. It is recognized as the most common cause of congenital deafblindness.

Department for Deafblindness, Institute for Special Needs, University of Education Heidelberg, Heidelberg, GermanyĬHARGE Syndrome is a genetic syndrome with a recognized pattern of features, and involves extensive medical and physical challenges.

Charge syndrome conference 2015