Treating Sleep Disorders in Fragile X Syndrome

Dr. Westmark studies sleep disorders in fragile X syndrome


studying APP in sleep disorders in fragile X syndrome
Altered signaling at synapses is involved in causing sleep disorders in fragile X syndrome

University of Wisconsin senior scientist Cara Westmark, PhD, studies the effect of promising therapeutics on sleep in fragile X mice

Your child finally falls asleep.

You quickly celebrate before quietly turning to your favorite book or another episode of Game of Thrones.

You tiptoe to bed.

Exhausted, you slowly fall asleep. Enter deep REM.

Minutes later, you are awoken loudly. Your bundle of joy with fragile X syndrome (FXS) is now bouncing off you, wide awake, screaming, smiling, and demanding you join the party before you all return to bed after a few rounds of cajoling and pleading.

Minutes later, repeat, rinse.

Hitting home?

The oh-my-it’s-way-too-early morning parties may be over if new research by Cara Westmark, PhD, is successful.

Westmark, senior scientist, Department of Neurology, University of Wisconsin previously found proteins involved in Alzheimer’s disease are over expressed in fragile X mice. She believes drug treatments that normalize the levels of these proteins for Alzheimer’s disease could be repurposed to benefit FXS patients. Working closely with Elizabeth Berry-Kravis, MD, PhD, professor, Rush University Medical Center, Westmark found altered levels in the full-mutation fragile X males.

Expanding her previous research, Westmark is now looking to study sleep/activity as a new outcome measure.

“Our recent research has found altered rest-activity cycles in fragile X and Alzheimer’s disease mice,” said Westmark, who earned degrees from University of Notre Dame and Clarke University. “The mice are much more active during the light cycle when rodents are supposed to be sleeping. Sleep deficits are a common problem in FXS and Alzheimer’s disease.”

Westmark’s long-term research goal is to determine the effect of promising fragile X drugs on sleep. “We will measure REM and non-REM sleep by EEG,” she said. “Our biggest potential research benefit is the possibility of rapidly repurposing the latest health craze technology, such as the Fitbit, into an outcome measure for fragile X clinical trials.”

Westmark thanks FRAXA for supporting her past and current research studies.

“This research would not have been possible without FRAXA grant support and without the invaluable collaborations with other FRAXA investigators,” she said. “During the course of our FRAXA-funded work, we serendipitously discovered rodent diet affects seizure propensity in the fragile X mice, which has opened a whole new area of investigation for the laboratory. The interaction between dietary components in rodent feed and therapeutics may help explain why so many drugs do not transition from the bench to the clinic.

“FRAXA has created a vibrant and collaborative research community. It makes those of us working at a lab bench feel like we’re part of an important cause and really gives perspective to our work when we have opportunities to interact with families.”


Dr. Westmark’s previously funded FRAXA project:

Cara Westmark, PhD — University of Wisconsin

More 2016 FRAXA Investigator awards

About the Author

Ted Coutilish author of Yale Professor Paul Lombroso studies STEP inhibitors for Fragile X
Ted Coutilish and his son, Andrew

Theodore G. Coutilish is celebrating his 10th year as Associate Vice President of Marketing at Eastern Michigan University, Ypsilanti, Michigan. Coutilish has enjoyed more than two decades of higher education marketing communications leadership experience. Since 2011, he has successfully led the university’s TRUEMU marketing campaign, leading to record new student enrollment.

Over the years, his peers have recognized his work with numerous prestigious awards, including IABC Detroit’s 2012 Communicator of the Year, the chapter’s highest honor, recognizing lifelong professional communications excellence. In addition, he and his wife, Mary Beth Langan, were recognized with the 2012 Halstead-Bresnahan Family Award at the 13th Annual International Fragile X Conference, Miami, Florida, recognizing those who make a profound difference to families affected by fragile X syndrome. Coutilish was named “Distinguished Alumni in 2013” by Grosse Pointe North High School, the school’s highest honor, recognizing professional and community achievements. He lives in the City of Grosse Pointe, Michigan, with his wife, and their son, Andrew, who has Autism and Fragile X Syndrome. He earned a MA in liberal studies with a concentration in communications from University of Detroit Mercy in 1994 and a BA in print journalism in 1987 from Wayne State University.

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