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​​​​​​​​​​​​​​​​​​​Children with CHARGE syndrome frequently engage in behavior that is challenging to those who work or live with them. The behavior is often described as obsessive compulsive, autistic-like, and stereotypical. The function of the lab is to investigate the genetic, biological, environmental and individual factors that may be implicated in the etiology of these behaviors, with the aim of better describing the behavior and developing appropriate strategies for intervention and prevention.
 
Projects currently under various stages of development include the following: the experience of fathers, decision making around the removal of gastrostomy feeding tubes, the prevalence of headaches, the development of social play, the use of an adapted version of Tai Chi as an intervention for children with CHARGE, sleep interventions in children with CHARGE, the use of adaptive and recreational equipment with children with CHARGE, anxiety and the use of calendar systems, the use of medication in children with CHARGE, and unique behaviors in children with CHARGE. An overarching focus of investigation is problems with self-regulation leading to behavioral challenges.
 
Please select options on this page to learn more about Dr. Timothy Hartshorne and our group's research, publications and teaching.  Please also visit DB Central and the Joanna M. Russ Memorial
 
Thank you for taking interest in our lab! 

CHARGE Syndrome

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.

My Interest

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.

Jacob and Tim Hartshorne

History of my Research

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.


Join the Lab

The CHARGE Lab welcomes interested undergraduate and graduate students. Students are actively involved in designing, carrying out and ultimately presenting research. Many of our alumni published papers while students at CMU. For more information about opportunities in the lab, email Professor Hartshorne at tim.hartshorne@cmich.edu.

Summer research assistant:

Occasionally, we accept summer research assistants. The summer assistants' responsibilities would include maint​aining websites, updating bibliographies, reviewing manuscripts, analyzing data, drafting man​uscripts, assisting other researchers in the lab, and any other miscellaneous tasks.  

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CHARGE Lab researchers
"We drink tea!"
 
Front Row, left to right: Shanti Madhavan-Brown, Rachel Wilson, Rachel Malta, Shelby Muhn, Megan Schmittel​
Second Row, left to right: Ben Kennert, Bree Kaufman, Becca Jokinen, Blair Tiseo, Jacob Hartshorne, Tim Hartshorne, Gretchen Imel ​