What is the recommended next step for a 4-year-old girl with Trisomy 21 (Down syndrome) who has noisy breathing when supine during sleep, but no witnessed apneas or snoring?

Polysomnography is Indicated for a 4-Year-Old with Down Syndrome and Noisy Breathing

Polysomnography should be recommended for this 4-year-old girl with Down syndrome who has noisy breathing when supine during sleep, even without witnessed apneas or snoring.

Rationale for Polysomnography in This Patient

Down syndrome is a well-established risk factor for sleep-disordered breathing (SDB) that requires objective evaluation. The clinical presentation in this case has several important features:

• Patient has trisomy 21 (Down syndrome)
• Noisy breathing when supine
• No reported snoring or witnessed apneas
• Otherwise normal sleep pattern (8 PM to 7 AM with a 2-hour nap)

Guidelines Supporting Polysomnography

The American Academy of Otolaryngology-Head and Neck Surgery clinical practice guideline explicitly states that before determining the need for any surgical intervention, clinicians should refer children with sleep-disordered breathing for polysomnography if they exhibit certain complex medical conditions, with Down syndrome specifically listed 1. This recommendation is based on observational studies with a preponderance of benefit over harm.

Children with Down syndrome have multiple anatomic and physiologic factors that predispose them to SDB, including:

• Hypotonia
• Midfacial and mandibular hypoplasia
• Relative macroglossia
• Narrow nasopharynx
• Shortened palate 1

Why Other Options Are Inadequate

Reassurance

Reassurance alone would be inappropriate because:

• Down syndrome significantly increases the risk of obstructive sleep apnea (OSA)
• The American Academy of Pediatrics recommends that all children should be screened for snoring, and if present, a more detailed evaluation should follow 1
• Noisy breathing when supine is concerning for upper airway obstruction

Sleep Diary

While a sleep diary might provide additional information about sleep patterns, it would not:

• Objectively assess for the presence of sleep-disordered breathing
• Quantify the severity of any potential OSA
• Provide the necessary diagnostic information to guide treatment decisions

Importance of Early Diagnosis and Treatment

Untreated obstructive sleep apnea syndrome in children can result in serious complications:

• Neurocognitive impairment
• Behavior problems
• Failure to thrive
• Cor pulmonale
• Death 1

Children with Down syndrome are at particularly high risk for these complications. Early diagnosis and treatment have been shown to reduce the incidence of severe complications.

Clinical Pearls and Pitfalls

1. History and physical examination alone are poor predictors of OSA severity or risk of postoperative complications 1. Clinical assessment cannot reliably distinguish between primary snoring and obstructive sleep apnea.

2. The absence of snoring does not rule out OSA in children with Down syndrome. The presentation of sleep-disordered breathing can be atypical in children with craniofacial abnormalities.

3. Laboratory-based polysomnography is the gold standard for evaluating SDB in children. Portable monitoring devices are not recommended for children 1, 2.

4. Polysomnography not only confirms the diagnosis but also quantifies the severity of OSA, which is essential for determining appropriate treatment and follow-up 1.

5. Early intervention is critical to prevent the development of sequelae or complications 3.

In conclusion, polysomnography is the appropriate next step for this 4-year-old girl with Down syndrome and noisy breathing during sleep, as it will provide objective assessment of her sleep-disordered breathing and guide appropriate management decisions.