Michael Rutter, MD, receives the Gabriel F. Tucker Medal from the American Laryngological Association

On May 19, 2016, Dr. Michael J. Rutter received the Gabriel F. Tucker Medal from the American Laryngologicial Association (ALA). This is an annual award given to an outstanding candidate for recognition of their individual contributions to the field of pediatric laryngology and for outstanding service to the ALA.

Launch of Cincinnati Childrens CHARGE Team

Since the start of the calendar year, the Cincinnati Children's CHARGE team has begun applying our principles and practices of authentically coordinated care to a very complex population of children with CHARGE syndrome. The CHARGE acronym derives from the congenital conditions and disorders that affect these children across almost every organ system. The “C” stands for coloboma (an eye disorder that can compromise vision), “H” for heart defects, “A” for choanal atresia (failure of the opening of the back of the nose to develop, causing obstruction), “R” for retardation of growth and development, “G” for genitourinary abnormalities and “E” for ear and hearing problems. A defect of the CHD7 gene is as a common genetic cause for CHARGE syndrome, but the exact mechanism(s) by which CHD7 mutations result in the spectrum of issues seen in CHARGE remain unclear and are a major area of research focus. As the CHARGE team’s experience has grown with these children, it has quickly become evident that the medical conditions and challenges seen in our patients with CHARGE syndrome go far beyond those features outlined by the early nomenclature. Patients with CHARGE frequently have other conditions such as cleft lip or palate, difficulties with speech and swallowing, malformations of the trachea and esophagus, aspiration, hormonal abnormalities, facial weaknesses or paralysis, as well as delays in development of motor function and cognition.

However, early successes in optimally managing these patients have demonstrated to our CHARGE team (and families) that these children frequently have tremendous potential to function and excel if provided with the proper, early and effective interventions. Many of these interventions are critical, life-threatening treatments for issues like congenital heart defects or airway problems that need addressed immediately. However, after these early critical periods, key developmental and communicational aspects need to be aggressively addressed in order to allow these children to reach their full potential. This is our goal in creating this interdisciplinary CHARGE Team; to provide the full range of assessments and interventions for children with CHARGE syndrome in a comprehensive and optimally coordinated manner such that these children can reach their full potential. Clinicians from the Divisions of Developmental and Behavioral Pediatrics; Audiology; Speech-Language Pathology; Plastic Surgery; Urology; Psychiatry; Human Genetics; Ophthalmology; Social Services; Pulmonary Medicine; General and Thoracic Surgery; Endocrinology; Pediatric Otolaryngology; Gastroenterology, Hepatology and Nutrition have all collaborated on this endeavor and epitomize the well-coordinated, high acuity expertise that is Cincinnati Children's.

As mentioned above, research into CHARGE syndrome remains a compelling area of need. Multicenter clinical projects are under development to probe the specific genetic mutations of CHD7 in individuals with CHARGE and to correlate those specific DNA sequences with the clinically observed manifestations; all with the hopes of better understanding how specific genetic defects cause the anomalies seen in CHARGE syndrome.

The inaugural CHARGE symposium held in the Sabin Auditorium at Cincinnati Children's took place on October 14, 2016, for clinicians as well as individuals with CHARGE and their families. Patient and family-driven topics at this conference included behavioral issues and management in CHARGE, navigating the healthcare system for children with CHARGE syndrome, feeding and blenderized diets, and secretion and airway management in CHARGE.