Recent advances in paediatric sleep disordered breathing.

This article reviews the latest evidence pertaining to childhood sleep disordered breathing (SDB), which is associated with negative neurobehavioural, cardiovascular and growth outcomes. Polysomnography is the accepted gold standard for diagnosing SDB but is expensive and limited to specialist centres. Simpler tests such as cardiorespiratory polygraphy and pulse oximetry are probably sufficient for diagnosing obstructive sleep apnoea (OSA) in typically developing children, and new data-processing techniques may improve their accuracy. Adenotonsillectomy is the first-line treatment for OSA, with recent evidence showing that intracapsular tonsillectomy results in lower rates of adverse events than traditional techniques. Anti-inflammatory medication and positive airway pressure respiratory support are not always suitable or successful, although weight loss and hypoglossal nerve stimulation may help in select comorbid conditions. Educational aims: To understand the clinical impact of childhood sleep disordered breathing (SDB).To understand that, while sleep laboratory polysomnography has been the gold standard for diagnosis of SDB, other diagnostic techniques exist with their own benefits and limitations.To recognise that adenotonsillectomy and positive pressure respiratory support are the mainstays of treating childhood SDB, but different approaches may be indicated in certain patient groups.

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

The sodium leak channel nonselective protein (NALCN) is a regulator of the pacemaker neurons that are responsible for rhythmic behavior (including respiration), maintaining the resting membrane potential, and are required for action potential production. NALCN-null mice show early death associated with disrupted respiratory rhythms, characterized by frequent and profound apneas. We report 3 children (2 siblings) with compound heterozygous mutations in NALCN associated with developmental impairment, hypotonia, and central sleep-disordered breathing causing apneas. Supplemental oxygen normalized the respiratory rhythm. NALCN mutations have been previously reported to cause severe hypotonia, speech impairment, and cognitive delay as well as infantile neuroaxonal dystrophy and facial dysmorphism. Nonsynonymous changes in the 2 affected extracellular loops may be responsible for the deleterious effect on the stability of the respiratory rhythm. Although oxygen is known to be a stabilizer of respiratory rhythm in central apnea in children, its role in NALCN dysfunction requires further investigation.

Infants with flow limitation at 4 weeks: outcome at 6 and 11 years.

Within a longitudinal study of lung function in 243 infants, we identified a group of 23 individuals with flow limitation in tidal expiration. In infancy, flow-limited children have reduced lung function and increased airway responsiveness (AR), and at 2 years of age they are diagnosed with asthma more frequently. We hypothesized that these observations would persist throughout childhood. Data from ages 3 to 11 years were analyzed. Only at 4 years of age did the flow-limited group have increased wheeze compared with other cohort members (odds ratio, 4.25; 95% confidence interval [CI], 1.11 to 16.2; p = 0.04; n = 114). At 6 years of age, 117 cohort members were seen. The flow-limited group (n = 14) had greater AR (p = 0.009) and reduced mean FEV(1) (131 ml; 95% CI, 16 to 246; p = 0.03) and FEF(25-75) (0.28 L/second; 95% CI, 0.05 to 0.52; p = 0.02). At 11 years of age, 183 children were seen and the flow-limited group (n = 18) had greater AR (p = 0.02) and a trend toward reduced mean FEF(25-75) (0.24 L/second; 95% CI, -0.02 to 0.49; p = 0.08). Atopy and parental asthma were not increased in the flow-limited group. We suggest that the physiologic abnormality that causes flow limitation in early infancy may identify an at-risk group, different from asthma, who have reduced lung function and increased airway responsiveness in later life.

The relationship between infant airway function, childhood airway responsiveness, and asthma.

The relationship between reduced pulmonary function in early life and persistent wheeze (PW) in school-aged children remains uncertain. In this study, VmaxFRC was assessed at 1 month of age, and the presence of wheeze up to 11 years of age was prospectively identified. At 11 years of age, airway responsiveness (AR) to inhaled histamine and atopy were assessed. Recent wheeze at 11 years of age was associated with a reduced mean z score for VmaxFRC at 1 month of age (-0.41 [SD 0.91], n = 31) compared with no recent wheeze (0.04 [SD 1.00], n = 153, p = 0.03). Wheeze between 4 and 6 years that persisted at 11 years (PW) was most prevalent among those with reduced VmaxFRC at 1 month and atopy aged 11 years (p = 0.002) or reduced VmaxFRC and increased AR aged 11 years (p = 0.015). When all factors were considered, reduced VmaxFRC at 1 month (p = 0.03) and increased AR aged 11 years (p < 0.001) were independently associated with PW (n = 17) compared with other outcomes (n = 129). Reduced airway function present in early infancy is associated with PW at 11 years of age, and this relationship is independent of the effect of increased AR and atopy in childhood.