Our research focuses on behavior in CHARGE syndrome. Children with CHARGE often display behaviors that 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 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.
- Fun chi - Maria
- Sleep and CHARGE - Ben
- Play and CHARGE - Megan
- Anxiety- Shanti
- Headaches - Tate
- Fathers - Shantell
- Medication - Blair and Rachel
- Recreational therapy - Gretchen
- Pain in CHARGE - Kasee
- Self-regulation? - Ben and Maria
We welcome undergraduate and (potential) graduate students with an interest in our work to apply to assist in the lab.
Below is a selected list of publications most associated with the lab's core research.
Hartshorne, N., Hudson, A., MacCuspie, J., Kennert, B., Nacarato, T., Hartshorne, T., & Blake, K. (2016). Quality of life in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A.
Larsen, A. E., Hartshorne, T. S., Brown, D., & Nicholas, J. (2016). Physiological Self-Regulation in CHARGE Syndrome. DbI Review, 56, 26-31.
Martin, D. M., Salem-Hartshorne, N., Hartshorne, T. S., Scacheri, P. C., & Hefner, M. A. (2016). 12th International CHARGE syndrome conference proceedings. American Journal of Medical Genetics Part A, 170(4), 856-869. doi: 10.1002/ajmg.a.37544
Haney, S. D., Hartshorne, T. S., & Nicholas, J. (2015). Self-Regulation of Behavior in CHARGE Syndrome. DbI Review, 55, 55-60.
Kennert, B., Ramirez, M., Hartshorne, T. S., Deuce, G., & Nicholas, J. (2015) Self-Regulation of Emotion in CHARGE Syndrome. DbI Review, 54, 26-30.
Kennert, B., Hartshorne, T. S., Wanka, A., Dix, H., & Nicholas, J. (2014). Self-Regulation of Cognition in CHARGE Syndrome. DbI Review, 53, 14-18.
Ramirez, M.A., Hartshorne, T.S., & Nicholas, J. (2014, January). Self-regulation in individuals with CHARGE syndrome. Dbl Review, 52, 43-47.
Hartshorne, T. S. (2014). The needs of the person with CHARGE syndrome. DbI Review, 52, 48-51.
Hartshorne, T. S., Hefner, M. A., Davenport, S. L. H., & Thelin, J. W. (Eds.) (2011). CHARGE Syndrome. San Diego: Plural.
Hartshorne, T. S., Schafer, A., Stratton, K. K., Nacarato, T. M. (2013). Family Resilience Relative to Children with Severe Disabilities. In D. S. Becvar (Ed). Handbook of Family Resilience (Part 5, 361-383). New York: Springer. DOI: 10.1007/978-1-4614-3917-2_21
Hartshorne, T. S. (2011). Understanding behavior in CHARGE syndrome. In U. Horsch, & A. Scheele (Eds.). Compendium on CHARGE syndrome: Multi-disciplinary and international perspectives (pp. 189-197).. Heidelberg, German: Median-Verlag.
Hartshorne, T. S. (2009). Wieso, weshalb, warum? Verhaltensweisen beim CHARGE-Syndrom verstehen lernen. In U. Horsch & A. Schleele (Eds.). Das CHARGE-Sundrom (pp. 219-229). Heidelberg, Germany, Median-Verlag.
Hartshorne, T. S., Stratton, K. K., & van Ravenswaaij, C. M. A. (2011). Prevalence of genetic testing in CHARGE syndrome. Journal of Genetic Counseling, 20, 49-57. DOI: 10.1007/s10897-010-9328-7
Blake, K.D., MacCuspie, J., Hartshorne, T. S., Roy, M., Davenport, S. L. H., & Corsten, G. (2009). Postoperative airway events of individuals with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 73, 219-226.
Hartshorne, T. S., Heussler, H. S., Dailor, A. N., Williams, G. L., Papadopoulos, D., and Brandt, K. K. (2009). Sleep Disturbances in CHARGE Syndrome: Types and Relationships with Behaviour and Caregiver Well-Being. Developmental Medicine and Child Neurology, 51, 143-150.
Blake, K.D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics, 146A, 585-592.
Reda, N. M. & Hartshorne, T. S. (2008). Attachment, bonding, and parental stress in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 11, 10-21.
Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19, 471-483.
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. (2006). CHARGE development in adolescence: Research update. Deaf-Blind Perspectives, 13 (3), 9.
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., & Salem-Hartshorne, N. (2005). But he's in 7th grade now! How can he still be included? In P. Zionts (Ed.), Inclusion strategies for students with learning and behavior problems. Austin, TX: Pro-Ed.
Williams, G. L., & Hartshorne, T. S. (2005). Understanding balance problems in children with CHARGE syndrome. Deaf-Blind Perspectives, 12 (2), 5-7.
Hartshorne, T. S. & Cypher, A. D. (2004) Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41-52
- CHARGE Syndrome Foundation
- Sense, a worldwide organization that serves the Deafblind
- "Two CHARGE kids," a family with two children with CHARGE
- National Center on Deaf-Blindness