A Collaborative Conference on Rare Communication Disorders

On Thursday, December 6, 2012, the inaugural Isabelle Rapin Conference on Communication Disorders was held in Einstein's Price Center/Block Research Pavilion. The event was established by Einstein's Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) and Children's Evaluation & Rehabilitation Center (CERC) to honor the contributions Dr. Rapin has made to the field – and continues to make – during a career spanning more than half a century.

"Dr. Rapin is a true pioneer in the field of child neurology and it was fitting to dedicate this conference to her," said Dr. Steven Walkley, director of the IDDRC, during introductory remarks. "Over her illustrious career at Einstein, she has expanded our knowledge and understanding of communication disorders while working with researchers, patients and their families. And she has mentored countless faculty and students."

The full-day conference began with a series of informative presentations focused on Williams Syndrome (WS), a rare developmental disorder that results from a small genetic deletion. Patients with WS are developmentally delayed in speech and have distinct facial features. Although bubbly and outgoing, patients suffer an array of health problems including high blood pressure, anxiety, and diabetes.

LeFrak Auditorium was filled to capacity for the event, requiring that an overflow room with a video feed also be put to use. Among those in attendance was the conference's namesake, who is professor emerita of neurology and retired earlier in 2012.

"I was truly heartened by the number of people who attended," said Dr. Walkley. It speaks to Dr. Rapin's influence in the field and the esteem in which she is held."

The seminar series was followed by interactive roundtable discussions among presenters, researchers and parents of individuals with WS. "Parents were able to obtain medical advice from clinicians and share stories with other families," reported Michelle Disco, a genetic counselor at Montefiore Medical Center who served as one of the discussion moderators.

Establishment of the annual conference was inspired by a special event, "Rare People and Rare Talents on a Rare Day," held in February 2012, and organized by Dr. Walkley along with Dr. Robert Marion, director of CERC and founder of Montefiore's Williams Syndrome Center. Among the featured performers that day was an individual with WS, recalled Dr. Walkley. "During the event we were surprised to learn that people, including clinicians, were unfamiliar with the disorder – especially since there is a substantial clinic for Williams Syndrome at Montefiore."

Thus motivated, Drs. Walkley and Marion determined to initiate an annual conference that could educate clinicians and researchers about rare communication diseases. "Our goal to establish synergy between departments and across disciplines, to drive research and treatment efforts, was achieved and we're looking forward to planning next year's conference," concluded Dr. Walkley.