CHARGE syndrome was first identified in 1979, and the acronym C.H.A.R.G.E. was proposed in 1981 based on common features: C - coloboma of the eye (missing part of iris and/or retina); H - heart defects; A - atresia of the choanae (bony or membranous blocking of nasal passage); R - retardation of growth and/or development; G - genitourinary anomalies; E - ear anomalies and/or deafness. Over the years it became clear that CHARGE is quite heterogeneous in its phenotype. In order to better make a clinical diagnosis, four features were selected as "major criteria" due to their being common in CHARGE and rare in other syndromes, and other features were identified as "minor criteria." The major were Coloboma, Choanal Atresia, Cranial Nerve Anomalies, and Characteristic CHARGE Ear. The CHD7 gene was identified as a cause of CHARGE in 2004. However, because not everyone diagnosed with CHARGE has that mutation, diagnosis is still primarily clinical.
I became interested in CHARGE when my son Jacob was born with the syndrome in 1989. My first research on CHARGE (unpublished) examined the parent-professional relationship, and I presented it at the first International CHARGE Syndrome Conference in St. Louis, MO, in 1993. This work gradually morphed into looking at the parent experience, and led to a presentation called "Who's in CHARGE," and later an article: Hartshorne, T. S. (2002). Mistaking courage for denial: Family resilience after the birth of a child with severe disabilities. Journal of Individual Psychology, 58, 263-278.
For a variety of reasons, perhaps in large part due to most of the children identified as having CHARGE being quite young, it was not until 1995, at the second US conference on CHARGE, that the first presentation regarding behavioral challenges in CHARGE was made by Veronika Bernstein of Perkins School for the Blind. At the 1996 Australasian conference, my wife and I were asked to be part of a panel discussion on behavioral challenges along with George Williams. Bernstein presented again in 1997, and I began presenting on behavior as communication in 1998. It began to be clear that CHARGE very much needed a psychologist to work on the behavioral issues. Then it occurred to me that it might as well be me.
In 2003 I organized a special symposium on behavior in CHARGE at the US Conference. Nine presentations were made, and these were the basis for a special issue of the American Journal of Medical Genetics on CHARGE in 2005. The year before, one of my school psychology students and I published a study describing behavior in CHARGE: Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41-52.