- Careful clinical history is necessary to determine the underlying cause of the patient’s pauses in breathing at night.
- The presence of prematurity, hypotonia or developmental delay should increase concern for the presence of sleep-disordered breathing in infants.
Sarah's Story
Sarah is a previously healthy 8 month old full term girl. She is here because mom has noticed that she seems to pause breathing during the night.
She has not been noted to snore and seems to be not sleepy during the day as her older sister was at her age. She has been developing normally. Mom has no other concerns, but she is worried because she recently read an article about Sudden Infant Death Syndrome.
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 Sarah and her mother.
Bedtime Problems
Sarah sleeps in a crib in the parent’s bedroom. She will typically fall asleep on her own a few minutes after being put down for the night.
Expert Insights
In infants sleep-disordered breathing can sometimes be associated with insomnia.
Excessive Daytime Sleepiness
Sarah doesn’t seem tired to her mom. She takes two naps per day, each about 1.5-2 hours. She will typically sleep at night from 830 pm to 7 am.
Expert Insights
- Excessive daytime sleepiness can be difficult to assess in infants. Determining the child’s total sleep time may be useful to assess this.
- Newborns (0-3 months) typically sleep for around 14-17 hours per day.
- Infants (4-11 months) typically sleep for around 12-15 hours per day.
- Toddlers (1-2 years) typically sleep 11-14 hours per day.
Awakenings
Sarah typically sleeps through the night, but she will occasionally wake up. Mom will feed her and she will quickly fall back asleep.
Expert Insights
- Frequent nocturnal awakenings, particularly if preceded by a snort or choking, can be a sign of sleep-disordered breathing.
Regularity & Duration
Sarah has a consistent bedtime at 8:30 pm and will usually wake on her own around 7 am. She takes one nap in the late morning and one in the afternoon. She typically sleeps about 13-14 hours per day.
Expert Insights
- Sarah is getting an appropriate amount of sleep for her age, and she has a typical napping schedule for her age.
- At 8 months old most infants take 1-3 naps per day.
Sleep-Disordered Breathing / Snoring
- Mom notices that Sarah will sometimes pause breathing for 5-10 seconds at night.
- She does not snore, does not seem to choke, and has never woken up after a pause in breathing.
Expert Insights
- The absence of snoring and other obstructive symptoms in the presence of pauses in breathing is suggestive of central sleep apnea.
Sarah's Evaluation & Diagnosis
What evaluation & diagnostic protocol should Dr. Matthews use to diagnose Sarah's snoring?
Check all that apply:
The evaluation protocol strategies we recommend for Sarah's case are:
- Further determine child’s sleep history
- Perform a physical examination
- Order a sleep study
- Obtain a developmental history
Elements of Sarah's Sleep History
| Sleep History | Case Specific Information | Chris's Evaluation Results |
|---|---|---|
Determine severity of sleep-disordered breathing symptoms |
How often does the patient have episodes? |
Mom does not always notice the events every night, but will notice once a week or so. Sometimes she has to watch her for a long time before she has a pause in breathing. |
Have the parents ever noticed any color change with an event? |
Mom has never seen her turn blue or pale. |
|
Have the parents ever had to intervene because the patient wasn’t breathing? |
No one has ever had to intervene. She will continue breathing regularly after a pause, although sometimes events seem to occur in clusters. |
|
Screen for other causes of apnea |
Does the patient have abnormal movements or stiffening with episodes? |
She has never stiffened or had any unusual movements with episodes. |
|
Does the child have gastroesophageal reflux? |
She spat up a little as a 3 month old, but this resolved on its own. |
Review medications that the patient is taking |
Some medicines such as opiates, sedatives or muscle relaxants may worsen sleep apnea. Some medicines such as nasal steroids or montelukast that may be prescribed for other conditions and may help treat obstructive sleep apnea. |
Sarah is not on any medications. |
|
||
Obtain a family history of sleep disorders |
Does anyone else in the family have sleep apnea? |
Mom thinks Sarah’s paternal grandfather has a CPAP machine. |
Have any siblings had their tonsils removed? |
Sarah’s older sister has not had a tonsillectomy. |
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.
|
Sarah’s length is at the 35th percentile, height is at the 50th, and head circumference is at the 40th percentile. Her ENT exam shows 1+ tonsils, no evidence of nasal congestion. 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 shows normal tone throughout. Sarah can sit unsupported and reaches for the examiner’s stethoscope. |
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. A central AHI >5 events per hour is diagnostic of central 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 for obstructive sleep apnea. If possible, the sleep study should be performed at a sleep center with experience managing pediatric patients. |
Polysomnogram (PSG) was obtained and demonstrated an AHI of 9, with an obstructive AHI of 0.2 and central AHI of 8.8. End tidal CO2 was below 50 mmHg for the entire study. Her total sleep time was 450 minutes with a sleep efficiency of 95%. She did not appear to have any respiratory effort related arousals, and her central apneas were not associated with frequent arousals. Her cardiac and EEG tracings demonstrated no abnormalities. The arousal index was 4.3 events per hour. Central apneas occurred predominantly during REM sleep. Her oxygen saturation did not go below 90%. The periodic limb movement index was 0 (normal <5). |
Obtain a developmental score
| Information to obtain includes: | Case Evaluation Results |
|---|---|
A developmental history is needed to determine risk factors for significant sleep-disordered breathing. Failure to meet motor milestones should raise concern for an underlying neuromuscular disorder. Normal cognitive and motor development can be reassuring that there is not a serious underlying problem. |
Sarah rolled over at 3 months, could sit unassisted at 6 months, and mom thinks that she will be crawling very soon. She is able to pick up cheerios with a pincer grasp and has started jargoning (putting together consonant-vowel sounds). |
Options that are Not Recommended
Order Labs/Other Diagnostic Tests
Labs and other diagnostic testing would typically be deferred until after a sleep study is performed.
Complete a sleep diary
A sleep diary is unlikely to be useful in this case, given the reported history of a consistent sleep pattern.
Refer to a specialist
Referral to a sleep medicine specialist should be considered, this may be before or after a polysomnogram is performed depending on the sleep center and state..
Red Flags
- Reported cyanosis or apneas requiring parent intervention may require need for further pulmonary evaluation.
- Pauses associated with abnormal movements may be suggestive of nocturnal seizures and a neurologic evaluation may be needed.
Expert Insights: Interpreting the Sleep Study
- The sleep study demonstrated a central AHI of 8.8, and an obstructive AHI of 0.2. This meets the definition of primary central sleep apnea (central AHI >5).
- There is no evidence of significant obstructive events, as the obstructive AHI is < 1, and end tidal CO2 was not elevated.
- Additionally, it does not appear that the central apneas disturbed her sleep, as her arousal index is normal, and she did not have any desaturation below 90%.
Evaluation & Diagnosis
What diagnosis is consistent with Sarah’s pauses in breathing?
Check all that apply:
Sarah’s signs and symptoms are consistent with:
- Primary central sleep apnea
Sarah has a central AHI >5, and no evidence of obstructive sleep apnea.
In this case, Sarah's signs and symptoms are not consistent with Gastroesophageal reflux, obstructive sleep apnea, or late-onset central hypoventilation.
Sarah's Treatment & Referrals
Now it’s time to recommend treatment options for Sarah.
Check all that apply:
The following treatment strategies are recommended for Sarah:
- Refer to a sleep medicine physician
- Monitor patient for further symptoms and perform repeat polysomnogram in 6 months
Treatment Strategies for Central Sleep Apnea
- Monitor patient for further symptoms and perform repeat polysomnography in 6 months.
- In this case, the patient is growing and developing normally. There does not appear to be any developmental delays or behavioral concerns suggesting adverse effects from her central sleep apnea. Additionally, she has a normal neurologic exam and is unlikely to have an underlying condition causing her central sleep apnea. Finally, other than the elevated central AHI, her sleep study is otherwise normal, with no frequent arousals or significant hypoxemia.
- Normally developing newborns can have an elevated central AHI. This will typically resolve as the child grows older.
- Repeat polysomnography in 6 months is likely to show resolution of the patient's central apnea.
- Obtain a brain MRI
- A brain MRI is useful to assess for neurologic abnormalities such as an Arnold-Chiari malformation.
- In this case, it would be reasonable to defer MRI at this time, as the patient is asymptomatic and an MRI would require the patient to be placed under anesthesia.
- PAP therapy
- PAP therapy can be used to effectively treat central sleep apnea. Typically, bilevel PAP therapy is used, which can provide a backup breathing rate for the patient and help the patient take a breath when their respiratory effort decreases.
- In this case, given that the central sleep apnea is mild, the child is growing/developing normally, and is otherwise asymptomatic, PAP therapy is likely to be difficult for the infant to use and unlikely to provide significant benefit.
- Oxygen therapy
- Supplemental oxygen can be used as a treatment for central sleep apnea.
- In this case, the patient is not hypoxemic and is otherwise asymptomatic, so it would be reasonable to not start treatment at this time.
When to consult a sleep specialist or refer to another discipline:
- Children with primary central sleep apnea should be referred to sleep medicine for further evaluation and treatment if indicated.
Interdisciplinary Treatment Components
Sarah's Results:
Good news! Mom has noticed that Sarah’s events appear to have gone away. A repeat polysomnogram done after 6 months showed a central AHI of 2.
If patient had worsening events, or persistent central sleep apnea on the repeat sleep study, further testing and evaluation, particularly repeat neurologic exam and MRI of the brain, would be needed.