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Rare disease linkedto speech disorder

Photo: Nancy Potter and a grad student work with a child. (Photo by Robert Hubner, WSU Photo Services)
Five weeks, 19 stops in 12 states — lugging 140 pounds of equipment.
No, it’s not the life of a pop musician. It’s how Nancy Potter, assistant professor of speech and hearing sciences, spent last summer. She was doing research on communication disorders in children with galactosemia, a rare disorder that affects one in 53,000 people in the United States.

Galactosemia is a genetic disease that is detected during newborn screening and is fatal if left undiagnosed. Children who have galactosemia are unable to tolerate lactose, a complex sugar consisting of glucose and galactose.

“You and I can change glucose into galactose and galactose into glucose to adjust to our bodies’ needs,” Potter said. “What happens to children with galactosemia is that their bodies can change glucose into galactose, but they have difficulty using the galactose and changing the excess back into glucose. So galactose builds up in their bodies, becoming toxic to them.”

NIH support
Potter is interested in these children because more than half of them have speech disorders, typically diagnosed as apraxia (the inability to plan and program mouth and tongue movements needed for speech). Supported by National Institutes of Health funding, she has tested 33 children across the nation using a three-hour battery of speech, language, cognitive and motor tests.

The goal of Potter’s study is to examine markers of apraxia and determine the nature and relationship of co-occurring speech, language and motor disorders in children who have classic galactosemia.

Although not all data have been analyzed, data from a pilot study she conducted in 2005 suggest that the risk of language disorders occurring together with speech disorders may be up to five times greater in galactosemic children than in children whose speech disorders are of unknown origin. She also discovered that individual children with galactosemia have very different patterns of significant speech, language and motor impairments.

Expertise and teaching
Potter has become an expert on communication disorders in children with galactosemia — a big frog in a very small pond, as she laughingly puts it. Her expertise has been sought by parents of children with galactosemia from around the world, and she regularly consults with school districts and speech-language pathologists across the nation.
Her involvement in this highly specialized area also is providing unique opportunities for graduate students in the Department of Speech and Hearing Sciences at WSU Spokane. Last June, students assisted Potter in testing a control population — 70 children from the Newport School District — that will be used as a basis for comparison in the apraxia studies.

She has students helping her analyze data from her galactosemia study, as well doing their own research projects based on the data she gathered. Students in the language disorder classes taught by colleague Jeanne Johnson have analyzed speech samples from children tested by Potter.

“These are great examples of motor speech disorders that may occur in children due to a number of causes,” Potter said. “The children I’ve studied and their parents have been gracious in permitting us to use the audio and video footage as a valuable learning tool for our students.”

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