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Pioneering innovative therapies to improve the lives of those with genetic intellectual disabilities

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An interview with Dr. Alper Bozkurt

Dr. Alper Bozkurt, Assistant Professor in the Department of Electrical and Computer Engineering at North Carolina State University has received funding from the Jerome Lejeune Foundation USA to develop a small device to improve the assessment of obstructive sleep apnea in young children. We asked Dr. Bozkurt to share a bit about his work with us, and here are his responses. His responses provide insight into the importance of screening for OSA for both the short and long term well-being of children with Down syndrome.

At what age do you believe OSA to be a factor for children with Down syndrome?

It is thought that about 60% of children with Down syndrome have had an abnormal sleep study by the time they are 4 years old. We believe that 30% of infants with Down syndrome display moderate to severe sleep apnea after they were screened based upon parental concerns. However, these reports are limited in their reliability because of the current difficulty in truly assessing OSA in young children.

How effective are current methods for diagnosing and treating OSA in young children?

Currently, most screening of young children follows upon parents reporting symptoms. Current testing with polysomnography is burdensome and not reliable. That is the reason we are developing this device, to make testing less burdensome and more reliable. In fact, our device will also provide a benefit to adults with Down syndrome by making a sleep study less intimidating. Treatment is another story. Traditional methods of treatment such as removing tonsils and adenoids, or continuous positive airway pressure using a CPAP device are still the standard of care, but there are others investigating new treatments including phrenic nerve stimulation.

How does your device differ or improve upon current ways of diagnosing OSA in children?

Traditionally polysomnography is done in a sleep lab and is actually quite invasive. In fact, as I have said previously, most screening is done by interviewing parents regarding symptoms. Our device is a miniaturized wireless system that can simultaneously record electrophysiological signals (electroencephalography (EEG), electrooculography (EOG)), cerebral hemodynamic changes (Near Infrared Spectroscopy (NIRS)) and head movement (inertial measurements) to study and predict abnormal sleep performance in children (age 2 – 5 years) with Down syndrome. This device is currently in use with adults at risk for obstructive sleep apnea syndrome, but with modifications could be well-suited for pediatric populations.

With an earlier diagnosis are there effective ways of treating OSA in young children?

Absolutely. We can apply current research to known cases of OSA in young children and measure the success more effectively.

What do you believe will be the long-term benefits of earlier diagnosis and treatment?

Researchers know that OSA can be the cause of some degree of intellectual impairment. The brain, as well as the heart and other organs, need oxygen. OSA can cause behavioral problems, growth delays, high blood pressure, heart problems and others. Parents often think of lethargy as a symptom, but hyperactivity can also be a symptom of OSA in children with Down syndrome

When would you expect your device to be available for use in the clinic?

Our initial prototype was designed for adult subjects and we will use our Jerome Lejeune Foundation grant to miniaturize the system to pediatric level. We are expecting to start feasibility studies by the end of Spring of 2016. Then, we will have a larger clinical study to assess the efficacy of the system. We are hoping that our system will be available for general use in clinic within 2-3 years.