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Sleep and Schaaf-Yang Syndrome [2023 CONFERENCE VIDEO]

In this video, Dr. Joanna Wrede discusses sleep disorders commonly seen in children with Schaaf-Yang syndrome.

In this 74‑minute video, Dr. Joanna Wrede, a pediatric sleep neurologist at Seattle Children’s Hospital, explains how sleep disorders are identified and treated in children with Schaaf-Yang syndrome.

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.

Presentation Summary With Timestamps

0:00 Introduction

1:43 Roadmap

  • What we will cover
    • Types of disorders seen in SYS
    • Diagnosis and sleep studies
    • Significance of sleep disorders
    • Treatment options
    • Other disorders of sleep

2:25 Intro

  • Schaaf-Yang syndrome is a genetic disorder caused by a variant in the MAGEL2 gene.
  • Many shared features with PWS.
  • PWS has a high incidence of sleep disorders; it can be helpful to consider these.

3:11 PWS and Sleep

  • The vast majority of children with PWS have obstructive sleep apnea.
  • This increases the risk of hypoxemia.
  • This commonly leads to daytime sleepiness (hypersomnia), narcolepsy, and alterations in sleep patterns.
  • Similar effects are likely in people with SYS.

4:54 SYS Clinical Data

  • Initial clinical studies summarized data from 28 families; there are now data from over 300 families.
  • Cognitive and behavioral characteristics: all children experienced some form of developmental delay; high rates of autism and other behavioral difficulties.
  • We examine physical challenges that may set them up for sleep issues.
  • Based on initial clinical observations, almost two-thirds experienced obstructive sleep apnea.
    • Contributing factors could include hypotonia, excessive weight gain, and scoliosis/kyphosis.
    • Autism in most may also lead to sleep issues.

7:24 Polysomnographic Characteristics and Sleep-Disordered Breathing in SYS

  • This article in Sleep & Breathing was published in 2020.
  • It was based on sleep studies of 22 children from around the world.

8:00 Trends

  • Trends identified in these studies included high rate of obstructive sleep apnea, more often moderate or severe, and trends toward fragmented sleep and decreased REM sleep.

8:50 Detailed Findings

  • Fragmented sleep: normal versus excessive number of arousals.
  • For obstructive sleep apnea, average obstructive index varied over a wide range, but most subjects were moderate to severe.
  • Treatment is recommended in this range.
  • The average oxygen desaturation index for children studied was high.
  • About a quarter of subjects had excessive periodic limb movement.

12:22 Conclusions

  • In conclusion, there were high rates of obstructive sleep apnea and high rates of central sleep apnea (about 10%) compared to the general population.
  • Children with SYS should have routine sleep studies due to the high risk of sleep disorders.

13:00 Spectrum of Sleep-Related Breathing Disorders

  • The spectrum ranges from occasional snoring to severe sleep apnea.
  • You can have obstructive sleep apnea without snoring; often sleep study results are worse than expected given the lack of noise.

14:19 Obstructive Sleep Apnea Syndrome

  • Also called OSA; it is defined by obstructive events that narrow the airway and cause dips in oxygen levels.
  • It can include complete pauses in breathing or shallow breathing.
  • In an obstructed airway, the uvula has low tone and can interfere with airflow.

15:53 Sleep Study

  • Sleep apnea is diagnosed with sleep studies.

16:07 Polysomnogram

  • Polysomnography means multiple sleep measurements. Sensors measure
    • Brain waves
    • Eye movements
    • Muscle activity
    • Heart rate and rhythm
    • Snoring
    • Oxygen and carbon dioxide levels
    • Respiratory effort

17:14 Home Sleep Apnea Test

  • Home sleep apnea tests monitor some of these but do not include brain wave sensors to determine wakefulness.
  • Generally home tests are not for children unless some data gathering is needed in remote locations or before a sleep study time is available.

18:56 Types of Respiratory Events on Sleep Studies

  • Usually we can get brain wave, oxygen data, which provide good information.

19:15 Obstructive Apneas

  • In obstructive sleep apneas, there is no air detected coming out of the nose or mouth.
  • There is still chest and abdominal movement, but no air is getting through.

19:37 Central Apneas

  • With central apneas, no air is coming out, but there are also no breathing movements.
  • A certain amount can be normal, particularly following a deep breath.
  • During a pause in breathing, if oxygen level dips or lasts long enough, we have to count it.

20:44 Mixed Apneas

  • Mixed apneas are a combination of the other types.

20:59 Hypopneas

  • These involve shallow breathing; our criterion is a 30% drop in airflow.
  • Sometimes we see changes that don’t meet the criteria.
  • Flow limitations mean that airflow tracings on the polysomnogram flatten out.
  • Oxygen level dips of 3% or more count as hypopneas.

22:01 Formula to Determine 

  • If you put all of these breathing events together, add them up and divide by the hours of sleep, it yields the apnea hypopnea index.
  • With children, the obstructive apnea hypopnea index (oAHI) is used; this excludes central apneas.

22:40 Obstructive Apnea Hypopnea Index

  • Approximate severity
    • oAHI < 1 = normal
    • oAHI 1-5 = mild
    • oAHI 5-10 = moderate
    • oAHI > 10 = severe
  • Interpretation is important; other factors can contribute to severity.
  • Even with fewer events per hour, kids are more affected by these events than adults.

24:00 Polysomnogram: Normal Breathing, N3 Sleep

  • With normal breathing, every breath looks nearly the same on a polysomnogram.
  • Most calm breathing occurs in deep sleep.

24:57 17-Year-Old with Down Syndrome, AHI 104

  • This is an extreme example featuring many airflow stoppages with chest and abdominal movement.
  • With every stoppage of breath, the oxygen level dips and the brain wakes up.
  • It becomes exhausting because the heart rate and blood pressure also increase at these times.

26:11 Sleep Apnea Worse Than Numbers (AHI) Suggest

  • Sometimes disorganized breathing occurs without countable hypopneas based on oxygen and brain wave measures.
  • Interpretation is important in these cases.

26:04 Sleep-Disordered Breathing: Contributing Factors

  • Part of the problem is structural and can include tonsils or large adenoid tissues.
  • Craniofacial differences can play a role.
  • Obesity can be a factor; fat deposits around organs and even around the airway can obstruct breathing.
  • Lung capacity, upper airway narrowing, and abnormal muscular tone are other factors.
  • Genetic and hormonal factors can also contribute. Growth hormone therapy may be a factor in some cases.

20:17 SYS and PWS Risk Factors

  • Hypotonia
  • Scoliosis
  • Small airway
  • Obesity
  • Growth hormone therapy?

30:45 Special Considerations

  • Growth hormone therapy in PWS improves many physical and possibly cognitive outcomes.
  • One study of growth hormone therapy in SYS shows similar improvements.
  • However, there are concerns it may worsen obstructive sleep apnea due to lymphoid tissue enlargement, increased BMR, and increased symptoms of laryngomalacia.
  • General recommendations for PWS are to have a sleep study within the first year of life and before starting growth hormone therapy.
  • If GH therapy is begun in the NICU, sleep study would have to be done there; not all institutions have that capability, however.
  • Pre- and post-GH therapy sleep studies can reveal whether GH is having a negative impact on sleep disorders. 

34:35 At Risk for Other Types of Sleep-Disordered Breathing

  • Hypoxemia and hypoventilation are risks with restrictive lung diseases.
  • This can lead to elevated blood carbon dioxide levels.
  • Regarding central sleep apnea, a certain amount can be normal, but an excess can reduce brain arousal to decreased oxygen and high carbon dioxide levels.

37:26 Why Does Sleep Apnea Matter in Adults?

  • In adults, untreated sleep apnea can lead to increased risk for high blood pressure, strokes, and heart attacks.
  • Disordered sleep can increase the risk of weight gain and type 2 diabetes.
  • It also can magnify the negative effects of existing health conditions.

39:20 Why Does Sleep Apnea Matter in Children?

  • Parents often bring their children to the sleep clinic because of behavioral problems: ADHD symptoms, impulsive behaviors, moodiness, risk taking, and declining school performance.

40:00 Bottom Line

  • Inadequate breathing is bad for the brain and body.
  • Treatment decisions involve weighing risks against benefits for young children.

40:26 Treatment Options

  • Primary treatments are surgery and PAP.
  • Sleeping position and allergy management can be supportive therapy.
  • Oral, nasal, and other devices are seldom used for children.

41:23 Surgery

  • Tonsil and adenoid removal are typically day surgeries except in severe cases or with comorbid conditions.
  • There may be other surgical targets; drug-induced sleep endoscopy can be used to look for other airway obstructions, which may lead to other interventions.

43:37 PAP

  • PAP is positive airway pressure. It is used to ensure continuous airflow throughout the night.
  • There are various types of PAP devices, including CPAP, APAP, BiPAP, and ASV.

44:38 Mask Options

  • There are many different PAP mask types and sizes available.
  • There are somewhat fewer options for young children, but if one type doesn’t work, others are available.

46:00 Allergy Control

  • No problem trying medications before obtaining a sleep study.
  • If you opt for a nasal spray, Flonase Sensimist is recommended.
  • Administer at least 15 minutes before bedtime.
  • Give it four to five weeks to see if it is helping.
  • If there are dust mite allergies, special pillow and mattress covers and frequent laundering can help.

47:59 Other Treatment Options

  • Weight loss
  • Positional therapy (there are low-tech options)
  • Supplemental oxygen (although this does not address the cause of obstructions)
  • Palate expansion
  • Hypoglossal nerve stimulation (implanted device)

51:29 Other Sleep Disorders in PWS (and SYS- not yet clear)

  • Excessive daytime sleepiness: In addition to sleep apnea or insufficient sleep hours, hypothalamic dysfunction can cause this.
  • Too much sleepiness is called hypersomnia, and past a certain point it is called narcolepsy, which includes progressing into REM sleep inappropriately.
  • Narcolepsy is generally considered an autoimmune condition associated with low levels of orexin; in PWS orexin levels are not exceptionally low.
  • There can be cataplexy (sudden loss of muscle tone). Children sometimes exhibit cataplexy when excited.
  • It is important to distinguish cataplexy from sleepiness or micro sleep because medical treatments differ.

54:11 Other Common Sleep Issues in Pediatrics

  • Insufficient sleep hours
  • Insomnia
  • Restless leg syndrome
  • Circadian misalignment
  • Inadequate sleep hygiene

54:34 Sleep Duration Recommendations

  • 10 hours at age 10; younger children need more, older ones a little less.
  • Teens need 8 to 10 hours of sleep.

55:40 Insomnia

  • Can be trouble falling asleep, staying asleep, or waking early.
  • Insomnia is more common in PWS than in the general population.
  • Insomnia has many possible causes, and many behavioral techniques can be used to help children fall asleep independently.
  • Psychophysiologic insomnia is difficulty falling asleep despite trying.
  • Medical conditions can also lead to insomnia.
  • A number of medications are available to treat insomnia.

57:20 Circadian Misalignment

  • Having consistent bedtimes and waking times can help address circadian misalignment.
  • Avoid bright lights or screens before bed; expose children to light at morning wake time.
  • Don’t sleep in on weekends.
  • Melatonin can be useful; start with the lowest effective dose. Some people develop resistance over time and need higher doses, but a washout period can help correct this.

58:50 Circadian Rhythm Disorders in SYS

  • Many SYS parents report disrupted sleep patterns.
  • There may be a molecular basis for this involving the effects of MAGEL2 on a circadian rhythm protein.

59:42 Restless Leg Syndrome

  • An urge to move prevents children from falling asleep.
  • This often runs in families.
  • It most often relates to low iron levels.

1:02:01 Sleep Hygiene

  • Have consistent bedtime routines.
  • Allow children to fall asleep independently.
  • Keep bedrooms cool, dark, and quiet.
  • Soothing sounds can be helpful.
  • Some children may benefit from sensory stimulation such as weighted blankets or massage.

1:02:42 Recap

1:03:07 Q&A

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