Sleep Disordered Breathing

Sleep-disordered breathing is a range of abnormalities in breathing while asleep.

Miguel's Story

Miguel is a 13 year old boy with Down Syndrome here with his dad for his annual well child check. Miguel has hypothyroidism and is followed by endocrinology. Dad does not have any other concerns about his health today.

Expert Insights

BEARS Screening for Sleep Disordered Breathing

Due to the pediatrician’s concern for a possible sleep disorder, a BEARS assessment was done. Open the categories below to review some of the history that was obtained from Miguel and his dad.

Bedtime Problems

Miguel goes to bed on his own, and dad does not think he has any problems falling asleep.

Expert Insights

Most children with sleep-disordered breathing do not have any problems at bedtime, and many will fall asleep quickly due to excessive sleepiness.

Excessive Daytime Sleepiness

While Dad sets an alarm every night for Miguel, he usually has to go to his room to get him out of bed, as he will often sleep through his alarm. Dad has not heard any reports from school about Miguel falling asleep during class.

Expert Insights
  • Difficulty getting out of bed can be a sign of non-refreshing sleep.

Miguel will occasionally awaken overnight, Dad thinks that sometimes he snores himself awake.

Expert Insights
  • Frequent nocturnal awakenings can be seen in sleep-disordered breathing due to snore arousals or children waking up and feeling unable to breathe.
Regularity & Duration

Miguel goes to bed at 9:30 every night, and wakes at 6:45 in the morning. On weekends, he will sometimes sleep in an extra hour, but usually still goes to bed by 10:00 PM.

Expert Insights
  • Miguel appears to have a consistent schedule and is getting an appropriate amount of sleep for his age.
Sleep-Disordered Breathing / Snoring

Dad reports that Miguel “snores like a freight train” and has since he was little. He notes that he will also sometimes snore loudly, then be quiet for a little while, before snoring again.

Expert Insights
  • Given the high likelihood of sleep apnea in children with Down syndrome, further evaluation for sleep apnea is indicated even if there are only a few signs of sleep apnea, such as snoring without any noticed apnea episodes.

Miguel's Evaluation & Diagnosis

What evaluation & diagnostic protocol should Dr. Matthews use to diagnose Miguel's snoring?
Check all that apply:

The evaluation protocol strategies we recommend for Miguel's case are:

  • Further determine child’s sleep history
  • Perform a physical examination
  • Order a sleep study
  • Obtain an Epworth Sleepiness Score

Elements of Miguel's Sleep History

Sleep History Case Specific Information Chris's Evaluation Results

Determine severity of sleep-disordered breathing symptoms

How loud and frequent is snoring?

Miguel snores every night and is easily audible down the hallway.


Are there witnessed apneas?

Dad does note that he will hear silent pauses between snores.


Have the parents ever had to intervene because the patient wasn’t breathing?

No one has ever had to intervene.

Screen for narcolepsy

Does the patient have a history of feeling weak or have loss of muscle tone during episodes of laughing, crying, or excitement?

Dad has never noticed this.

Does the patient ever see things that are not present when falling asleep or when first awakening?

Dad has never heard Miguel mention this.


Does the patient every wake up and feel like they are paralyzed, or are not able to move?

Miguel denies this.

Screen for restless leg syndrome/periodic limb movement disorder

Does the patient seem fidgety at night and have difficulty settling?

Miguel falls asleep without difficulty.


Does the patient complain of leg discomfort?

Dad has never heard Miguel mention any leg problems.

Does the child move their legs when falling asleep?

Dad has never noticed this.

Does the child kick during sleep?

Dad has never noticed this.

Review medications that the patient is taking

Some medicines such as opiates, sedatives or muscle relaxants may worsen sleep apnea, while others such as nasal steroids or montelukast that may be prescribed for other conditions may help treat obstructive sleep apnea.

Miguel takes levothyroxine for hypothyroidism. He is followed by endocrinology, and his TSH level was normal 2 months ago.

Obtain a family history of sleep disorders

Does anyone else in the family have sleep apnea?

No one else in the family has had a sleep study.

Have any siblings had their tonsils removed?

Miguel’s brothers are healthy, and never had their tonsils removed.

Perform a Physical Exam

Information to obtain includes: Case Evaluation Results

A physical exam should be performed to assess for underlying factors that may contribute to sleep disordered breathing.

  • Vital signs should be reviewed to determine body mass index (BMI) and BMI percentile for age and gender. Additionally, pulse oximetry can be considered.
  • HEENT exam should be performed, with specific focus on the airway. This exam may demonstrate the presence of adenoidal facies, a sign of enlarged adenoids, as well as assess for tonsillar hypertrophy and airway patency (Mallampati assessment).
  • Cardiopulmonary exam should be performed to evaluate for any comorbidities.
  • Neuromuscular exam may demonstrate reduced muscle tone in some patients, which may increase the risk of sleep disordered breathing.

○ Miguel’s BMI is at the 99th percentile. His ENT exam shows a large tongue, midface hypoplasia and no visible tonsils, His Mallampati score is 4. Cardiac examination reveals no murmurs with a normal S1 and S2. Chest examination reveals bilaterally clear lung fields with no increased work of breathing. Neuro examination: Mildly decreased tone is noted throughout.

Sleep Study

Information to obtain includes: Case Evaluation Results

A diagnostic polysomnogram is the gold standard for diagnosing sleep-disordered breathing. During the study, respiratory flow, respiratory effort, end tidal CO2 and oxygen levels will be monitored (in addition to other parameters) to determine the presence of sleep-disordered breathing. The sleep study will report an Apnea-Hypopnea Index (AHI, the number of times per hour that the patient pauses breathing or breathes too shallowly while asleep), which is used to diagnose sleep-disordered breathing.
In children, an obstructive AHI >1 event per hour is diagnostic of obstructive sleep apnea. Additionally, if the end tidal CO2 is greater than 50 mmHg for more than 25% of sleep time, this is also considered diagnostic of obstructive sleep apnea.
Note that for older children (teenagers), adult scoring criteria may be considered, and an AHI of 5 events per hour may be used as the diagnostic threshold. If possible, the sleep study should be performed at a sleep center with experience managing pediatric patients. This is particularly important for children with neurodevelopmental disabilities, as experienced pediatric technicians will be better equipped to help children feel more comfortable with the procedure.

Polysomnogram (PSG) was obtained and demonstrated an AHI of 20 with an obstructive AHI of 18. End tidal CO2 was not monitored. His total sleep time was 390 minutes with a sleep efficiency of 92%. His cardiac and EEG tracings demonstrated no abnormalities. The periodic limb movement index was 0 (normal <5).

Obtain an Epworth Sleepiness Scale Score

Information to obtain includes: Case Evaluation Results

The Epworth Sleepiness Scale is a validated instrument to assess the level of sleepiness. The patient rates themselves from 0 (would never doze) to 3 (high chance of dozing) on their likelihood of falling asleep in eight different situations. A score greater than 10 suggests the presence of excessive sleepiness.

Miguel completed the Epworth Sleepiness Scale. The results are listed below:
How likely are you to doze off or fall asleep in the following situations, in contrast to just feeling tired? (0=would never doze off, 1=slight chance of dozing off, 2=moderate chance of dozing off, 3=high chance of dozing off).

Situation Score

Sitting and reading


Watching television


Sitting, inactive in a public place (i.e. a theatre or a meeting)


As a passenger in a car for an hour without a break


Laying down to rest in the afternoon when circumstances permit


Sitting and talking to someone


Sitting quietly after lunch


In a car, while stopped for a few minutes in traffic




Options that are Not Recommended

Order Labs/Other Diagnostic Tests

Labs and other diagnostic testing are generally not indicated in cases of suspected obstructive sleep apnea.

Complete a sleep diary

A sleep diary can be considered to assess underlying factors such as insufficient sleep that are causing the patient hypersomnolence, but are generally not needed to diagnose obstructive sleep apnea.

Refer to a specialist

Referral to a sleep medicine specialist can be considered, but given the high pre-test probability of obstructive sleep apnea, obtaining a sleep study prior to the referral would be preferred; however some sleep specialists see patients before sleep study.

Red Flags

  • If the patient endorses narcolepsy symptoms such as cataplexy, a referral to sleep medicine should be considered for further evaluation and possible mean sleep latency testing.
  • Reported cyanosis or apneas requiring parent intervention may require need for further pulmonary evaluation.

Expert Insights:
Triggers for Sleep-Disordered Breathing

Evaluation & Diagnosis

Which of these children with Down syndrome should undergo a sleep study?
Check all that apply:

The children with Down syndrome that should undergo a sleep study are:

  • A 7 year old boy who snores nightly.
  • A 6 year old boy that does not snore or have known apneas, but has never had a previous sleep study.
  • A 17 year old boy that snores, but had a normal sleep study 2 years ago. He has gained 50 pounds since his last study.

Based on current American Academy of Pediatrics guidelines, all children with Down syndrome should be screened for sleep apnea, and referred for a sleep study if symptoms such as snoring or apnea are present. In addition, by age 4, it is recommended that all children undergo polysomnography, as parent report of symptoms does not correlate well with sleep study results.

It is not recommended that a 2 year old girl who does not snore, has no witnessed apneas, and no concerns about daytime sleepiness undergo a sleep study.

Miguel's Treatment & Referrals

Now it’s time to recommend treatment options for Miguel.
Check all that apply:

The following treatment strategies are recommended for Miguel:

  • Start CPAP therapy

Treatment Strategies for Obstructive sleep apnea

  • Adenotonsillectomy
    • In this case, Miguel does not have enlarged tonsils. In addition, he is obese.
    • Adenotonsillectomy is unlikely to resolve Miguel’s apnea, but evaluation of adenoidal tissue may be useful.
  • CPAP
    • CPAP is the preferred therapy in this case, as Miguel is not a good candidate for adenotonsillectomy.
    • If CPAP is indicated, a second sleep study (CPAP titration) will be performed to determine the optimal CPAP pressure to eliminate apneas.
    • CPAP adherence in children is around 50%, thus it is important to have an interdisciplinary team available to support families to improve adherence.
  • Oxygen Therapy
    • Supplemental oxygen can be used as a second line therapy for children who are not adenotonsillectomy candidates and cannot tolerate CPAP.
    • It is an inferior therapy to CPAP, as it will reduce oxygen desaturations, but does not improve sleep apnea related sleep fragmentation.
  • Weight Loss
    • Weight loss is likely to improve Miguel’s sleep apnea. However, children with Down syndrome often have narrow airways, and reduced muscle tone in their airways. This can often lead to obstructive sleep apnea even in normal weight children with Down syndrome.

When to consult a sleep specalist or refer to another discipline:

  • Children who may require CPAP therapy should be referred to a sleep specialist.

Interdisciplinary Treatment Components

Miguel's Results:

Good news! Miguel started CPAP therapy after his diagnosis of obstructive sleep apnea. Two months after starting therapy, dad reports that he is using his CPAP every night, and he has been waking up on his own when his alarm goes off. Dad notes that it took a few weeks to get Miguel used to his machine, but having him practice wearing his mask during the day and getting rewards for nights when he used his CPAP the whole night have really helped him adjust.