Approach
In order to properly diagnose the sleep disorder(s), full sleep and medical histories are necessary. Tests are supplementary in selected circumstances. Although children with cerebral palsy and developmental delay may have sleep disorders, accurate diagnosis requires specialist input and will not be covered in this topic.
Risk factors and general history
Age 3 to 6 years is the peak age of incidence for obstructive sleep apnea (OSA), due to peak tonsillar and adenoidal size relative to the upper airway. A history of allergies, adenotonsillar enlargement, macroglossia, gastroesophageal reflux, or craniofacial anomalies may suggest OSA. Down syndrome is also a strong risk factor.[22] Obesity, environmental tobacco smoke exposure, hypotonia, and alcohol use predispose to OSA as well. Hypertension may be seen.
The peak incidence for chronic insomnia disorder is 5 years or younger.[65][66] A history of inconsistent parenting may be a contributing factor. Adolescence is associated with delayed sleep-wake phase disorder (DSWPD), insufficient sleep, and a second peak of OSA, particularly in obese teenagers.[67]
A full review of systems, including psychiatric, neurologic, ear, nose and throat, orthodontic, respiratory, cardiac, gastrointestinal, allergic, musculoskeletal, and endocrinologic is necessary. Medications, including doses and time of administration, are important to note, as many have pronounced effects on sleep architecture and sleep latencies, and can be sedating or arousing. Agents that may contribute to OSA include baclofen, benzodiazepines, and certain sedative hypnotics. The past medical history, including surgical history, especially as pertains to adenoids and tonsils, is important, and the family history should be reviewed for a history of OSA, parasomnias, narcolepsy, or secondary nocturnal enuresis.[68]
Sleep history
Sleep diaries can provide valuable information in helping to understand the causes of underlying sleep disturbances. Specific details should include times of sleep onset and awakening, as well as behavior of the child during these times. Specific observations of the child during sleep should note if choking or excessive snoring is observed, which may be seen in OSA.[5] Excessive movement of the legs may point to restless legs syndrome. Erratic behavior may be seen in narcolepsy, with hallucinations just before falling asleep (hypnagogic) or during waking (hypnopompic).
The sleep history includes a review of the child's 24-hour schedule, often starting in the evening with dinner time; activities after dinner; time of initiation of bedtime routine, its components, and location; the time the child gets to bed; whether or not the child is awake or asleep when being put to bed; whether or not there is physical contact or music while falling asleep; lights-out time. Refusal to sleep in one's own bedroom is associated with chronic insomnia disorder (previously behavioral insomnia of childhood), but this needs to be differentiated from anxiety and PTSD. An erratic sleep schedule is commonly seen in DSWPD.
Awakenings during the night are reviewed, including their frequency, duration, whether the child is fed, how the child goes back to sleep, and where the child goes back to sleep. Wake-up time in the morning, and discrepancies between weekdays, weekends, and vacation time, are noted. Naps, both structured and ad hoc (e.g., sleep in the car to and from school), their timing and duration, how the child falls asleep for them (e.g., on his own, being held), and whether they are refreshing are also important to review. Discrepancies between the ease or manner with which the child falls asleep while with other caregivers (e.g., at school, with babysitters, at sleepovers, with one parent versus the other) are important to note as these may point to behavioral sleep disorders or anxiety. The sleep environment is relevant, and questions about where the child sleeps are important when assessing for behavioral sleep disorder (e.g., own bedroom, with a sibling, in parents' room, starts out in own room and migrates to parents' room). Further questions include whether it is not dark and quiet; whether there are pets in the room; and whether there is a computer, television, or cell phone in use. All of these may distract the child from falling asleep, pertinent to delayed sleep phase and inadequate sleep.
Questions are asked about symptoms of OSA such as snoring, choking, gasping, breathing through an open mouth, any frequency, and character; if the child sleeps with the neck hyperextended; presence of night sweats; witnessed apnea; sleep position (supine, prone, seated); number of pillows used; restless sleep; periodic limb movements; or secondary nocturnal enuresis. Parents should be asked about the presence of sleepwalking, sleep talking, confusional arousals, night terrors, or nightmares. The child should be asked about symptoms of narcolepsy: excessive daytime sleepiness, sleep attacks, cataplexy, hypnagogic (as falling asleep) or hypnopompic (while waking) hallucinations, or sleep paralysis.
Excessive exposure in the evening to light among adolescents is a factor in DSWPD. Excessive daytime sleepiness is present in many sleep disorders. It is more commonly seen in older and more obese children.
Tests and diagnosis
Tests are directed to the suspected sleep disorder.
OSA
Attended polysomnography (PSG) is the only way to definitively diagnose OSA and is considered the diagnostic test of choice.[29][30][69][70] While the use of unattended PSG has been gaining attention for adults, its use in children is not recommended.[71][72] Do not interpret pediatric sleep studies for suspected OSA using adult standards.[73] Specific pediatric measuring and scoring criteria should always be used for the investigation of OSA in children.[30]
Lateral neck films and nasal endoscopy may be used, although they have limited sensitivity, to assess for adenotonsillar hypertrophy.[34][74]
A pneumogram is a limited, unattended polysomnogram, which offers much less information than a standard PSG and is not as sensitive. It may be used to assess for apnea associated with desaturation, gastroesophageal reflux, bradycardia, or tachycardia.
Overnight oximetry can be utilized as a tool to gauge severity and plan perioperative care for children with OSA, but a normal test does not exclude OSA.[75] Many children with OSA do not have significant desaturations with obstruction because their baseline PaO2 is high, and the decline in the PaO2 necessary to reduce the pulse oximeter oxygen saturation (SpO2) is large at those levels.
Chronic insomnia disorder (previously behavioral insomnia of childhood)
Diagnosis is by history and sleep diaries. Actigraphy (recorded activity monitor) is used in cases when the sleep history is questionable. PSG is not recommended unless there is concern for other, coexisting disorders.[63][76][77]
DSWPD
Sleep diaries and actigraphy are the two diagnostic tools recommended for evaluation.[5][78] PSG is not recommended unless there is concern for other, coexisting disorders.[5]
Narcolepsy
Diagnosis is by history and PSG followed by multiple sleep latency test (MSLT). The MSLT is the diagnostic test for narcolepsy, and is useful for evaluating other causes of hypersomnolence. It should be conducted in accordance with standard protocol, ideally following a full-night PSG documenting at least 7 hours of total sleep time, and off medications or substances that can adversely affect sleep patterns, such as those that suppress REM.[79][80] If other causes of hypersomnolence are present, treatment of these are recommended prior to MSLT, using clinical judgment.[80] Sleep latency testing is not indicated as part of routine evaluation of OSA, response to continuous positive airway pressure, insomnia, or circadian rhythm disorders.[79]
HLA testing is sensitive but not specific for narcolepsy. While certain HLA antigen types (HLA-DQB1*0602, HLA-DR2, and HLA-DQ1) are prevalent in patients with narcolepsy, they are also present in the general population in high percentages, and so their clinical utility is limited.[5]
Cerebrospinal fluid hypocretin levels, measured by immunoreactivity, are diagnostic for narcolepsy. A diagnosis of narcolepsy type 1 is indicated when concentrations are low.[5]
Actigraphy may be used whenever there is a discrepancy between complaints, or the amount of sleep as reported by the patient or caregivers. Activity variation may be due to erratic sleep schedule, disordered circadian rhythm, or insufficient sleep. Audiovisual recording is helpful when dealing with complaints that are unusual or infrequent, and thus unlikely to be captured on PSG.
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