MA-2: Management of Children with CHARGE Syndrome


Patients with CHARGE syndrome experience a constellation of physical anomalies within multiple systems including the heart, eyes, ears, and balance. The impact on these systems may fall anywhere on a wide spectrum, making clinical decision making somewhat cumbersome. Parents must often prioritize areas on which to focus, the first being in the realm of life-sustaining needs for obvious reasons. This sometimes leaves other areas (vision, hearing, balance, and mobility) unaddressed until long after formal diagnoses are made. The degree and type of hearing loss is extremely variable amongst the population and reliable diagnosis further complicated by other developmental delays. In addition to the configuration of the hearing loss, the actual cause may be related to a myriad of anatomical anomalies. Of course, the result of such inconsistency in the population leads to an equally variable assortment of treatment options. From an audiologic perspective, it is important to focus beyond hearing loss and consider the overarching goal of communication improvement. Despite the apparent difficulty suggested above, understanding, and unlocking the options that will maximize quality of life is extremely rewarding. Where we were once quite limited in what we might offer for treatment in the past, we now have a similarly diverse array of options. This presentation is intended to address all aspects of optimizing outcomes in patients with CHARGE. While the presenter will have case studies to share, the audience is encouraged to bring thoughts and considerations from their own experiences, which may lead to an interactive session.

Learning Objectives:

  • Participants will be able to describe the various systematic considerations identified in patients with CHARGE and how they may impact auditory and overall communication skill development.
  • Participants will be able to explain how the management of hearing loss in patients with CHARGE can result in a wide range of treatment options and related outcomes.
  • Participants will be able to navigate the difficult counseling needs related to communication and appropriate expectations for parents of children with CHARGE.