Impact of KCNMA1 Mutation on Hearing and Auditory Perception

Document Type


Publication Date



Communication Sciences and Disorders


This project is a clinical case study that concerns a 7-year-old girl with a mutation of the KCNMA1 gene. This gene encodes the formation of ion channels that let potassium into or out of a cell. Potassium ion channels are important in shaping the action potential of firing neurons and are found in their highest concentration in the brain. Action potentials occur when a neuron sends an electrochemical message. These messages could contain auditory information going to the brain, or instruction for muscles coming from the brain. Potassium ions must rush out of the cell after the neuron fires in order for it to return to its resting potential. This patient's mutation appears to transiently affect her brain's control of her muscles, resulting in short (10-15 second) catatonic spells that occur many times throughout the day. While she has near normal auditory thresholds, she does have auditory complaints such as difficulty understanding in noise. The most common consequences of this genetic mutation are seizures, movement disorders, developmental delay and intellectual disability. Research shows that auditory fatigue and listening effort are influenced both by hearing ability and chronic health conditions. This patient's condition, along with auditory complaints, indicated the need for audiologic intervention. Studies in adults with minimal hearing loss, and children with auditory processing difficulties, have shown that hearing aids can increase ease of listening despite the lack of "hearing loss." This patient was fit with low gain hearing aids and an FM system in order to give her the best access to sound as possible in noisy situations like classrooms. Increasing ease of listening frees up cognitive resources for other tasks, such as memory and attention.

First Advisor

Jessica Messersmith

Research Area

Communication Sciences and Disorders

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