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Cindy Miller
School of Health, Physical Education and Recreation

Last modified: Thursday, April 7, 2011

22q11.2 deletion syndrome conference to bring together researchers, educators, families

April 7, 2011

INDIANAPOLIS -- A conference on April 30-May 1 in Indianapolis will bring together experts in genetics, education and motor control to give families the latest information about educational and treatment options for people with 22q11.2 deletion syndrome, a little understood condition characterized by physical and developmental abnormalities ranging from cleft palate and immune deficiencies to motor coordination and emotional disabilities.

Janet and Elliott Simon

Photo by Walter Fernandez

Janet Simon and her father, Elliott Simon, have a shared research interest in 22q11.2 deletion syndrome.

Organizers expect the conference, "Behavior and Learning in School-aged Children with the 22q11.2 Deletion Syndrome," to be of interest to parents, special educators, psychologists, genetics professionals, nurses, social workers and others involved in the care of school-aged children and adolescents with 22q11.2 deletion syndrome.

"This conference is very family oriented in that the main goal is to educate and counsel families on how to address the symptoms of the syndrome," said Janet Simon, a PhD. candidate in Indiana University's School of Health, Physical Education and Recreation (HPER). She will be presenting research at the conference.

The conference, sponsored by Elwyn Genetics, of Media, Pa., will be held at the University Place Conference Center and Hotel in Indianapolis. The conference is supported by IU, The Dempster Family Foundation and the International 22q11.2 Deletion Syndrome Foundation.

The idea for the conference came from collaboration between Simon and her father, Elliott Simon, a psychologist and executive director of research and health services at Elwyn Genetics. Elliott Simon is involved with research in developmental disabilities and psychiatric disorders, particularly behavioral and cognitive profiles of genetic syndromes. He suggested to Janet that they work together on a study of 22q11.2, combining her interests in motor coordination and his in the psychological aspects of the disorder.

Caused by a small deletion on a specific part of chromosome 22, 22q11.2 deletion syndrome is a genetic condition -- the cause of which is still not fully understood. Although many of the medical problems associated with this disorder are strongly believed to be caused by the deletion, the pathology has yet to be firmly established. As awareness of this disorder grows, however, more physicians are becoming involved in recognizing the symptoms associated with it so that a better understanding of how it functions can be attained.

The upcoming conference will give families the opportunity to sit in on lectures and speak with experts in the field about this disorder as well as learn about treatment and training options that are available. Additionally, there will be therapy sessions for individuals affected by 22q11.2 along with counseling for family members and siblings. Also, a number of researchers such as Simon hope to use it as an opportunity to perform quantitative studies about motor control.

"Up to this point there really haven't been many studies that have focused on patients' motor control in a way that provides anything more than a description of a patient swaying," said Simon, who is pursuing a degree in the School of HPER's Department of Kinesiology. "We are hoping to make measurements of balancing ability and other motor aspects that are characteristic of the disorder to help us further understand how it affects individuals and eventually determine if training can help improve the motor deficits."

The motor control laboratory at the School of HPER is currently running a number of studies, although none specifically pertaining to 22q11.2 deletion syndrome. For one study, researchers are creating a survey that evaluates functional ankle instability. Other studies, including some with which Simon is involved, examine the effects of functional ankle instability on nerve conduction velocity of the peroneal nerve, and the effects of dynamic sudden ankle inversion in individuals with functional ankle instability.

More about the School of HPER

Indiana University's School of Health, Physical Education, and Recreation (HPER) encompasses a broad spectrum of academic interests and professional fields. HPER offers nearly 50 undergraduate and advanced degree programs through our departments of Environmental Health, Applied Health Science, Kinesiology, and Recreation, Park, and Tourism Studies. To further its health and wellness initiative, Campus Recreational Sports provides sport and fitness services for the IU community and the public. More information can be found at

More about the conference

Registration for the conference is required and childcare will be provided. Costs and other registration information can be found at

More information and links to registration for the conference can be found on the Elwyn Genetics website at