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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:

Further determine child's sleep history

Perform physical exam

Order Labs/Other Tests

Complete a Sleep Diary

Order a Sleep Study

Refer to a Specialist

Obtain a developmental history

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.
		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. 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.	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.

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.

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).

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.

Evaluation & Diagnosis

What diagnosis is consistent with Sarah’s pauses in breathing?
Check all that apply:

Primary central sleep apnea

Gastroesophageal reflux

Obstructive sleep apnea

Late-Onset Central Hypoventilation with Hypothalamic Dysfunction

Sarah's Treatment & Referrals

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

Refer to ENT to evaluate for adenotonsillectomy

Monitor patient for further symptoms and perform repeat polysomnogram in 6 months

Start supplemental oxygen

Start PAP therapy

Refer to a sleep medicine physician

Obtain a brain MRI

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.

Next Scenario

Referral to subspecialists, including sleep medicine, pulmonology or neurology may be needed.

Pharmacists may review patient’s current medications, as well as screen for and manage potential drug interactions.

Family report is needed to assess the patient’s sleep-related symptoms.

Physicians may prescribe medications or manage PAP or oxygen therapy.

Pharmacists may review patient’s current medications, as well as screen for and manage potential drug interactions.

Respiratory therapists can assist with PAP mask fitting and machine troubleshooting.

Social workers and mental health professionals can assist with PAP adherence.

Family support is integral in helping children who need PAP adapt to treatment and improve adherence.

Child’s Sleep History

Ask child/family questions to uncover further sleep history.

Physical Exam

A physical exam should include height, weight, BMI, cardiovascular exam, ENT exam assessing for nasal airway patency and tonsillar size and a thorough neurologic exam.

Order Labs/Other Tests

Diagnostic testing may be required; for example a urine sample or blood work may be ordered.

Sleep Diary

A sleep diary is a record made of a child’s sleep schedule, awakenings and nighttime behaviors which is reviewed with the patient and family.

Sleep Study

A sleep study or diagnostic polysomnogram is a procedure performed overnight in a sleep center. It is usually an outpatient procedure that collects data on EEG, cardiopulmonary measurement including heart rate, oxygen saturation, carbon dioxide monitoring, nasal airflow, respiratory effort, video recording, movements of the extremities. A pediatric patient should be accompanied by a parent or guardian.

Referral

Because sleep is influenced by many factors, further consultation is at times recommended from pediatric pulmonary, asthma and allergy physicians, gastroenterologists, neurologists, and psychiatrists. Additionally, behavioral therapy with psychology can also be a component.

Developmental history

Abnormal development can be a sign of significant sleep-disordered breathing.

Primary central sleep apnea

Sleep disorder caused by not obtaining enough sleep to meet the individual’s sleep needs.

Gastroesophageal reflux

Sleep disorder caused by lack of hypocretin/orexin that presents with excessive daytime sleepiness and cataplexy. Patients may have hallucinations or sleep paralysis.

Obstructive sleep apnea

Obstruction of the upper airway that results in oxygen desaturations and sleep fragmentation.

Late-Onset Central Hypoventilation with Hypothalamic Dysfunction

This condition involves hypoventilation, as well as sudden weight gain, obesity, and endocrine abnormalities.

Start PAP therapy

Positive Airway Pressure therapy can be used to breathe for the patient when she pauses.