Our research focuses on behavior in CHARGE syndrome. Children with CHARGE often display behaviors which are very difficult to manage, and may be described as autistic-like, obsessive-compulsive, hyperactive, self-stimulatory, repetitive, and self-injurious. The aim of our research is to understand the sources of this behavior and how to intervene with and even prevent it. We hope to identify a "behavioral phenotype" for CHARGE. James Harris from Johns Hopkins defines a behavioral phenotype as "A pattern of behavior that is reliably identified in groups of children with known genetic disorders and is not learned" (Harris, 1995). In other words, if you behave this way, you most likely have CHARGE. Our preliminary behavioral phenotype can be found here.
Because there are no concentrations of individuals with CHARGE, we by and large have to rely on surveys and instruments that parents can complete. Most of the participants in our research are parent members of the CHARGE Syndrome Foundation or are identified through the CHARGE facebook pages or by professionals. We tend to have a very high rate of return in this research, generally at least 80%.
Current Research Projects
Projects currently under various stages of development include the following: the experience of siblings and fathers, communication systems being utilized and how they are chosen, decision making around the removal of gastrostomy feeding tubes, the prevalence of headaches, the development of play, and the use of an adapted version of Tai Chi as an intervention in children with CHARGE. An overarching focus of investigation is problems with self-regulation leading to behavioral challenges.
Adolescent Development in CHARGE: My collaborators, in addition to my students, on this project are Kim Blake, a clinical pediatrician from Dalhousie University in Nova Scotia, Jeremy Kirk, an endocrinologist from Birmingham, England, Meg Hefner, a genetic counselor from St. Louis University in Missouri, and George Williams, a pediatrician from Sydney, Australia. Adolescent development in CHARGE is very poorly understood. Children almost always need hormonal assistance to enter puberty. So the interaction of delayed or absent puberty and challenging behavior is of particular interest in our lab.
Stress in CHARGE: Graduate student Kasee Stratton has taken the lead on this project. She interviewed young adults with CHARGE about their experience of stress growing up and major sources of stress. She has completed about a dozen in-depth interviews and has written a book chapter on the results.
The Experience of Siblings of Children with CHARGE
: Former lab assistant Tracy Olson
conducted a pilot study which she presented at the CHARGE Syndrome Conference in Costa Mesa, California, in 2007. Current lab assistant Rachel Vert
is now conducting a follow-up study for her senior honors project. The challenge is to find ways to learn about some of the negative experiences as well as the positive, as we have found that siblings often do not want to disclose negatives.
Pain in CHARGE: We know the individuals with CHARGE can experience a great deal of pain, but in many cases they are unable to communicate their experience to others. We believe pain underlies some of the challenging behavior expressed. Kasee Stratton is conducting a study which compares two different observation-based instruments for the identification of pain. This will allow us in future studies to examine the correlation with behavior and the impact of appropriate pain management.
Self-Regulation in CHARGE: Jude Nicholas and I are working to better understand how difficulties with self-regulation may underlie much of the challenging behavior in CHARGE. I am being assisted on this long-term project with lab assistants Stephanie Budde and Ashley Humm. Self-regulation is how we manage the various arousal thresholds we experience with our emotions, thoughts, behavior, and physiological systems.
Fun-Chi and genetic disorders: Graduate student Maria Ramirez is looking at the effect that relaxation therapies, particularly Fun-Chi, have on reducing dysregulatory behaviors in children with genetic disorders.
Self-regulation in autism: Graduate student Valerie Weber is looking at self-regulation difficulties in infancy as early indicators for autism.
We welcome undergraduate and (potential) graduate students with an interest in our work to apply to assist in the lab. Click here to learn more.
In trying to understand the behavioral challenges in CHARGE, the first step has involved trying to link the physical manifestations to behavioral. For example, many children with CHARGE are deafblind. It is known that autistic-like behavior can occur in persons who are deafblind. However, even those children with CHARGE who are not deafblind demonstrate the behavioral challenges. We have also considered possible links with the vestibular dysfunction in CHARGE, with communication difficulties and frustrations, and with early experiences of pain and hospitalization. While these remain possible links, they have been challenged by those who can point to cases where there are behaviors but no link.
The second step has been to observe and consult on as many children with behavioral difficulties as possible. This has taken place at conferences, from communications with parents and professionals, from video, and numerous consultations that my students and I have provided. This has helped to show that there were commonalities in the behaviors and it became easier to recognize certain behaviors as "typical" in CHARGE.
The third step has involved conducting research studies to better understand the behavior. The following studies have been published or accepted for publication:
The following are some published studies of CHARGE behavior from our lab:
Reda, N. M. & Hartshorne, T. S. (in press). Attachment, bonding, and parental stress in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities.
Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (in press). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities.
Hartshorne, T. S., Nicholas, J., Grialou, T. L., & Russ, A. M. (2007). Executive function in CHARGE syndrome. Child Neuropsychology, 13, 333-344.
Hartshorne, T. S., Hefner, M. A., & Davenport, S. L. H. (2005). Behavior in CHARGE Syndrome: Introduction to the series. American Journal of Medical Genetics, 133A, 228-231.
Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-Like Behavior in CHARGE Syndrome. American Journal of Medical Genetics, 133A, 257-261.
Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41-52.