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Sleep Disorders and PWS [2021 CONFERENCE VIDEO]

In this video, Dr. Aaron Chidekel and Cindy Szapacs, mom to a teenage son with PWS, discuss sleep disorders and PWS.

In this 1 hour and 19‑minute video, Dr. Aaron Chidekel, a pediatric sleep specialist, and Cindy Szapacs, mom to a teenage son with PWS, discuss excessive daytime sleepiness and other symptoms and treatments for sleep disorders in people with PWS. The session includes Q&A from participants in the 2021 FPWR Virtual Conference.

Click below to watch the video. If you're short on time, scroll down for timestamps to find the portions you're most interested in.

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Presentation Summary With Timestamps

0:07 Dr. Aaron Chidekel and Cindy  Szapacs present

Sleep Disorders and PWS

  • Session is separated into two parts: a presentation by Dr. Aaron Chidekel regarding the science of sleep, and a conversation with Cindy Szapacs, a caregiver to a teenager with PWS and a diagnosis of narcolepsy.

00: 26 

  • Dr. Chidekel: As a pediatric sleep medicine provider, his perspective is somewhat child-focused.
  • Sleep is a lifelong initiative and is something that we all enjoy when we’re able to get it.

1:19 Why Sleep Is Important

  • When we think about sleep and how it regulates us, the linkages between sleep and function are absolutely top of mind.
  • Why we sleep is unknown, but sleep is important:
    • Emotionally
    • Cognitively
    • Behaviorally
    • Performance
    • Family dynamics
    • Influence on health

2:15 Sleep in PWS

  • He is a pulmonary medicine physician by training but in the sleep medicine practice, he cares for both respiratory and non-respiratory sleep disorders. 
  • Infants and children with PWS are at increased risk for respiratory and non-respiratory sleep disorders.
  • Respiratory sleep disorder notably include sleep apnea.
  • Up to 80% of children with PWS have obstructive sleep apnea.
  • Non-respiratory sleep disorders can be broadly categorized as follows:
  • Disorders related to excessive sleepiness: 
    • Some studies show up to 100% of children with PWS have abnormal sleepiness.
    • Up to 35% of people with PWS have a form of narcolepsy.
  • Disorders related to the timing of sleep, often accompanying developmental differences.
  • Disorders related to the neurocognitive, behavioral, and social aspects of sleep. 
  • Sleep-related concerns evolve across childhood and into adulthood.
  • Sleep-related concerns evolve throughout childhood and into adulthood.
  • The importance of sleep to overall health is something that should be a part of the discussion about health across the lifespan.

4:36 What Is Sleep?

  • A practical definition could be a reversible state of perceptual disengagement from and unresponsiveness to the environment.
  • We wake up, and we can be awakened, so sleep is different from anesthesia. It’s  different than coma. 
  • When we sleep we are disengaged and relatively unresponsive to the environment, but if something is loud enough, or dangerous enough, or light enough, it’s going to raise our attention and awaken us. 

5:34 Safe Sleeping

  • It usually, or should, occur in a lying down safe position.
  • So when we talk about excessive sleepiness, we discuss sleep attacks, and sleeping at unusual times or in unusual positions.
  • None of us should be falling asleep behind the wheel, and none of us should be falling asleep while we’re eating dinner. 
  • We should be asleep in our beds, and sleep should be peaceful.
  • If the sleep is disrupted and restless, that could be a sign of sleep apnea or sleep disorder breathing. 

6:04 Sleep as a System

  • Two important things to think about: the biological clock, or the circadian system, and the sleep drive: homeostatic system.
  • The circadian system is basically the biological clock. Circadian rhythms exist in all living things. 
  • The easiest example is day lilies, which close at night and open up in the morning.
  • The sleep/sleep/wake cycle is really just one example of a circadian rhythm that is common throughout nature.
  • The circadian clock is located in the brain and there are brain cells in the suprachiasmatic nucleus, a fancy name for a structure where these brain cells live.
  • These neurons or brain cells automatically generate a rhythm via clock genes that result in different gene products that govern wakefulness and sleep.
  • Some people have clock genes that make them want to wake up early, and some people have clock genes that make them want to wake up late.
  • There are natural variations in these genes, and when we think about the treatment of sleep disorders, we have to change how the genes are cycling through the day if we want to change the biological clock.
  • Treating clock-related sleep disorder is not something that can “happen over night.”

8:23 Circadian Rhythm Disorders

  • The human circadian rhythm is slightly longer than 24 hours, and must be set or trained to match our daily schedules.
  • Otherwise, we would go to bed later and later every night; that is the natural tendency.
  • Light, physical activity, and melatonin are the most potent “entrainers.”
  • They can work to favor or oppose sleep.
  • In general, when the rhythm is out of sync with schedule demands, Circadian Rhythm Sleep Disorders are present.
    • In general, we want a cool, dark, and quiet environment prior to bed because light is stimulating.
    • Sometimes the Circadian Rhythm is called “Process C.”
  • We want to manage physical activity because it’s hard to exercise and then fall asleep immediately.
  • Some people use extra melatonin as a sleep aid; it’s a substance in our brain that helps to govern our biological clock as well. 
  • Easiest of the Circadian Rhythm disorders to think about is when the clock gets out of sync with our daily needs.
  • Jet lag is an example of a disruption to the Circadian Rhythm. After flying across time zones, our biological clock takes some time to catch up.

10: 51 The Sleep Drive 

  • The sleep drive basically says if you’ve been up for a really long time, this sleep drive is going to build up in your body. It’s very easy to envision that if you try to stay up for 24 hours, the drive to sleep is going to be very very strong.
  • But what about somebody who stays sleepy even after a supposed good night’s sleep.
  • This is where we talk about the intrinsic sleep disorders. When there is an abnormality of sleep, this system is never reset and so an individual remains sleepy, and some of the sleepiness that people with PWS experience just has to do with abnormality of the wiring or sleep.
  • Also, if you don’t give yourself enough time to sleep and you restrict sleep, you’re going to be sleepy as well.
  • That results in probably the most common cause of sleepiness for those of us with busy lives and not enough time to sleep.

12:10 Sleep Disorder Breathing

  • 3 Indicators that we think about with sleep disorder breathing.

12:28 Central Sleep Apnea (CSA): 

  • Happens because the muscles don’t fire, and a breath does not occur. This pause in breathing is long enough to cause a disturbance.
  • These disturbances are things that we can measure when we do sleep testing.
  • They usually mean a drop in the oxygen level and arousal in the brain or a drop in the heart rate.
  • Key factors in Central Sleep Apnea include brain regulation and maturity so young babies, because the brain hasn’t matured, are at higher risk of central sleep apnea.

13:18 Obstructive Sleep Apnea (OSA)

  • There is an effort to breathe, but the the airway is either not open or not open enough to allow for air flow.
  • Limited air flow causes disturbances: 
    • Drop in oxygen level
    • Arousal
  • With Obstructive Sleep Apnea, airway size and shape and muscle tone are key factors.

13:51 Hypoventilation (HVN)

  • The signal to breathe, and effort to breathe, but one of both of these is not enough.
  • Disturbance causes a drop in oxygen level or an arousal.
  • Muscle tone and obesity are key factors in hypoventilation.

14:43 Sleep Disordered Breathing 101

  • Examples across childhood in PWS
    • Neurodevelopmental differences (CSA)
    • Low muscle tone (especially in infancy) (HVN)
    • Poor feeding with need for tube feedings (OSA/HVN)
    • Childhood growth of tonsils and adenoid tissue, usually during preschool years (OSA)
    • Initiation of human growth hormone therapy (OSA)
    • Viral infections that all children experience (OSA)
    • Weight management (OSA/HVN)

16:16 Understanding Neurotransmitters

  • Wake-promoting neurotransmitters: anxiety, depression, ADD all result from imbalance mostly in wake-producing substances; insomnia.
    • Acetylcholine
    • Dopamine
    • Histamine
    • Hypocretin/orexin
    • Norepinephrine
    • Serotonin 
  • Sleep-promoting neurotransmitters include:
    • GABA
    • Adenosine
    • Melatonin

18:53 Excessive Sleepiness and Narcolepsy in People with PWS

  • Excessive sleepiness is a key component of PWS, presents in different waves.
  • That’s why sleep evaluation or discussion of sleep with doctors is important.
  • Falling asleep at unusual times and in unusual places are obvious indicators.
  • But more subtle changes simply involve changes in performance and behavior.
  • In children, sometimes sleepiness can actually present as overactivity and increased movement, as children are trying to stay awake.
  • Narcolepsy is a neurological sleep disorder caused by the deficiency or absence of the wake-promoting neurotransmitter hypocretin.  
  • Some children with PWS develop all of the clinical features of narcolepsy, including cataplexy (sudden loss of muscle tone, usually associated with laughter or other forms of excitement.

21:29 Issues Related to Human Growth Hormone

  • Human growth hormone therapies revolutionize the care and outcomes for people living with PWS.
  • Use of the HGH requires attention to detail: evaluation and follow-up for possible sleep disorders.
  • Evaluation of growth of tonsil and adenoid tissue is important.
  • Practice is to see and monitor sleep and breathing in infants and children with PWS with regular clinic visits and regular sleep testing.

22:43 Addressing Sleep Hygiene

  • Sleep hygiene is always important no matter what type of sleep disorder is present. 
  • Prioritizing sleep.
  • Sleep-promoting concepts:
    • Cool
    • Dark
    • Quiet
    • Calm
    • Safe
    • Consistent sleep timing
    • Consistent meal timing

23:23 Treatment and Diagnosis of Sleep Disorders

  • An infant with sleep apnea may need oxygen and clinical monitoring
  • A toddler with a mild sleep disorder may only require some allergy medications.
  • A child with obstructive sleep apnea and large tonsils may require adenotonsillectomy.
  • People with persistent sleep apnea may require positive airway pressure devices (CPAP machines, BIPAP machines, etc.)
  • People with excessive sleepiness or narcolepsy can be helped with wake-promoting medical therapies.
  • Approach sleep in the context of behavioral and developmental differences; case-by-case evaluation and planning.

24:57 Summary of Key Points

  1. The relationship between sleep and physical and emotional health is bidirectional. Management of health is the management of sleep, and the management of sleep is the management of health.

  2. Since sleep disorders and challenges are so common in PWS, sleep quality, quantity, and respiration during sleep should be a routine part of conversations about health, well-being, and quality of life.

  3. Many of the key clinical features that are a part of PWS and its treatment increase the risk of sleep apnea and/or hypoventilation.

  4. Changes in the balance of wake- and sleep-promoting substances in the brain will contribute to non-respiratory sleep problems, including excessive sleepiness and insomnia.

  5. Excessive sleepiness is so common in children with PWS that symptoms should be reported to the healthcare team early and specific testing facilitated so that treatment can be prescribed if indicated.

  6. Sleep quality, quantity, and timing are tightly linked to important metabolic variables such as appetite, satiety, insulin resistance, and the overall risk of weight gain and obesity.

27:08 Q & A

  • Does Dr. Chidekel ever prescribe over-the-counter medications? 
    • Limited FDA-approved options for treatment of sleepiness, but they do sometimes use FDA-approved weight-promoting agents for those over 18. 
    • Stimulants sometimes used to treat ADHD have weight-promoting properties that can be used to treat sleepiness.
    • Melatonin is a sleep aid rather than a treatment for excessive sleepiness, and caffeine can be helpful adjunct as long as the side effects are not too great.
  • What is the age when you begin considering medications for children who have excessive daytime sleepiness?
    • This is something individualized with the healthcare team
    • Clinic has treated excessive sleepiness and narcolepsy in children living with PWS as young as the early elementary school years.
    • Transition to school is an important time to take a look at breathing and timing of sleep and make sure there is no evidence of a nighttime sleep disorder or excessive daytime sleepiness.
  • If a child in kindergarten or first grade is still requiring a nap, what’s your advice to the parent?
    • Keep the system consistent and make sure the nighttime sleep period is long enough, which can be challenging for busy families.
    • Look at that 24-hour clock to look at the opportunity and the environment in which the child is sleeping.
    • Make sure sleep is comfortable and peaceful.
    • If you have comfortable, peaceful sleep that is for a long enough duration, and there is still excessive sleepiness during the day, that might be a flag.

32: 23 Cindy Szapacs Discusses Caregiving Issues

  • Her son, Dash, falls into the category of not typical sleep presentation.
  • He is 14 and a half, doesn’t sleep in the car, doesn’t have sleep attacks. 
  • When they go places on vacation, they always have to get a room with a suite because he couldn’t fall asleep unless he was alone in a dark room.
  • If they shared a room, he would have tantrums.
  • Family didn’t know that that was a sign of sleepiness.
  • He sleeps at night, he goes to bed earlier, and he’d sleep longer periods. 
  • He napped almost up until kindergarten.
  • During transition to kindergarten, they wanted to treat what they thought were ADHD symptoms. Tried ADHD medications with psychiatrist and they ramped up the anxiety.
  • Then they tried Progivil, and they saw immediate improvement. He was able to stay up longer.
  • Before that, they were stuck in their house from about 5:30 at night because his behavior was so unpredictable.
  • Dr. Chidekel is their physician.
  • They have done sleep studies since Dash’s birth, and through the years.
  • Did nap studies when he was falling asleep in school in first grade and fourth grade.
  • That’s why he got the narcolepsy diagnosis.
  • By trying a drug that treats sleepiness, they saw an increase in cooperation, and Dash is happier.
  • They would also reward him to take naps, and when they did his life changed.
  • With this medication in the mix, they see more social behavior, rational thinking, and better speech abilities.
  • When you have a kid that’s tired and you never know if they can make it until 9 pm, or 6 pm.
  • Their lives revolve around his sleep schedule.
  • They are in the open label trial of Progivil. Have increased dosage, and saw some side effects.
  • Glad they went through all they did to find a solution.
  • Couldn’t have done it without his teachers.
  • He is allowed to take naps, but limited to 30 minutes, per Dr. Chidekel’s recommendation.
  • But however many naps he needs and however long he needs to sleep, if his behavior is such that it’s not safe or we can’t keep him at school, they’ll convene and change his IEP and do a half day.

44:56 Increase in Behaviors When Son Is Tired

  • When he is tired, he begins to seek food, talk about food.
  • Increase in nail biting and picking lips.

46:17 Recommendations for Parents/Caregivers

  • Started journey with a different school team, but his behaviors related to excessive daytime sleepiness helped him get into a different type of private school.
  • Worked with the team and explained that her son has narcolepsy and sleep apnea and needs naps during the day.
  • Needed a doctor’s note to make it clear.
  • Share everything that a doctor tells you, to be upfront with school so you can work together.

48:10 Q&A

FPWR Enewsletter

Topics: Research

Susan Hedstrom


Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the future of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she joined the FPWR team in 2010 and led the development of the One SMALL Step walk program. Under Susan’s leadership, over $15 million has been raised for PWS related research.