Diagnosis,follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta

Objectives

Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep-disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB.

Lung function measurements in awake compared to sleeping newborn infants.

Tidal breathing flow-volume loops were recorded in 19 healthy newborn infants when awake and asleep. This preceded and followed measurements of passive lung mechanics (by single breath occlusion). Our aim was to evaluate possible differences in lung function due to state of arousal or any influence of the occlusion technique. Expiratory volumes and flow rates were larger in awake than in sleeping infants before, but not after occlusion measurements. In sleeping, but not in awake infants, expiratory volumes and flow rates were higher after occlusion than before. Respiratory system compliance was significantly larger in sleeping than awake infants, while differences in respiratory system resistance and airway plateau pressure did not reach a significant level. Our results show that lung function can be measured in awake as well as sleeping infants, but differs significantly according to their arousal state, and whether tidal expiratory flow measurements are performed before or after airway occlusion measurements. Separate reference values for awake and sleeping infants may, therefore, be required. Marked intrasubject variability was found in the occlusion measurements, and criteria for acceptable measurements need to be defined.     

Influence of sedation on the Hering-Breuer inflation reflex in healthy infants.

The airway occlusion technique for measuring passive respiratory mechanics in infants relies on an ability to evoke the Hering-Breuer inflation reflex (HBR). However, the persistence of this reflex beyond the early newborn period remains controversial. We have recently demonstrated that there is no change in the strength of this reflex during the first two months of life in healthy infants during natural sleep. Measurements beyond this immediate newborn period are difficult without sedation, but it is unclear whether sedation itself may influence this reflex. To investigate the influence of sedation, the HBR was measured in 66 healthy, full-term infants aged 4-8 weeks. Thirty-three infants were measured during natural sleep, and 33 after triclofos sodium sedation (75 mg.kg-1). The strength of the HBR was assessed from the change in expiratory time (TE) following brief end-inspiratory airway occlusion, as compared to TE during spontaneous breathing. The mean increase in TE following occlusion was 89.45% (SD, 29.8; range, 44-175) in infants sleeping naturally, and 92.42% (SD, 31.2; range, 34-179) in sedated infants. Using unpaired t tests, no statistically significant difference was found between groups (P = 0.7516). We conclude that the strength of the HBR in healthy infants is not influenced by sedation with triclofos sodium, in doses normally used for lung function testing.     

Sleepiness, Troika of Consciousness Cycle, and the Epworth Sleepiness Scale

Excessive daytime sleepiness (EDS) is an important indicator when diagnosing sleep-disordered breathing and evaluating its treatment results. However, there appears to be some confusion as to what exactly is sleepiness; Dorlands Illustrated Medical Dictionary does not help. The medical literature was reviewed in order to assemble a schematic model that would suggest a definition of sleepiness and how it can be measured. The derived model is entitled the troika of consciousness cycle (TCC). It assumes that the presence of wakefulness, nonrapid eye movement sleep (NREMS), and rapid eye movement sleep (REMS) is determined by the interactions of four drives: two promoting wakefulness and one each for the two sleep states. The TCC illustrates that inadequate sleep results in sleep debt, but that sleepiness is determined solely by the nearness of the secondary wake drive line to the NREMS drive line. Contact of these lines indicates dozing, a change in consciousness state, an observable event. The probability of this event may be defined as objective sleepiness; this is what the Epworth sleepiness scale (ESS) attempts to measure. Studies indicate that the ESS can determine EDS with greater sensitivity and selectivity than either the multiple sleep latency test or the maintenance of wakefulness test.     

Expiratory-Synchronized Sleep in a Quadriplegic Patient Using Inspiratory Neck Muscles To Breathe

In a patient with C3 quadriplegia causing complete diaphragm paralysis who developed inspiratory neck muscles (INM) hypertrophy to sustain ventilation, spontaneous breathing deeply altered sleep architecture, relegating sleep to the expiratory phase of the ventilatory cycle. A polysomnographic recording performed during mechanical ventilation (without INM activity), showed that sleep was abnormal but unaffected by the respiratory cycle. During spontaneous breathing, the polygraphic recordings showed expiratory microsleep episodes, with inspiratory arousals synchronous to bursts of INM activity. This case report illustrates the powerful adaptability of the respiratory and sleep control systems to maintain each vital function.     

Skeletal class II malocclusion caused by mouth breathing in a pediatric patient undergoing treatment by interceptive guidance of occlusion

A 7-year 10-month-old boy was evaluated for mouth breathing and snoring habits. Examination revealed soft convex tissues, maxillary protrusion, mandibular retrusion, and a class II sagittal osteofascial pattern. The patient failed a water holding test. He was clinically diagnosed with skeletal class II malocclusion caused by mouth breathing. Under interceptive guidance of occlusion (iGo), the malocclusion improved with fixed maxillary expansion using functional appliances and interventional treatment of mouth breathing by lip closure exercises. These treatments enabled the patient to gradually return to nasal breathing and guided him to develop physiological occlusion for a coordinated jaw-to-jaw relation. At the 5-year 2-month post-correction follow-up visit (at the age of 13 years), the patient had stable occlusion, a coordinated osteofascial pattern, and normal dentition, periodontium, and temporomandibular joints.     

Sleep spindle activity correlates with implicit statistical learning consolidation in untreated obstructive sleep apnea patients

Objective/BackgroundThe aim of this study was to examine the relationship between overnight consolidation of implicit statistical learning with spindle frequency EEG activity and slow frequency delta power during non-rapid eye movement (NREM) sleep in obstructive sleep apnea (OSA).Patients/MethodsForty-seven OSA participants completed the experiment. Prior to sleep, participants performed a reaction time cover task containing hidden patterns of pictures, about which participants were not informed. After the familiarisation phase, participants underwent overnight polysomnography. 24 h after the familiarisation phase, participants performed a test phase to assess their learning of the hidden patterns, expressed as a percentage of the number of correctly identified patterns. Spindle frequency activity (SFA) and delta power (0.5–4.5 Hz), were quantified from NREM electroencephalography. Associations between statistical learning and sleep EEG, and OSA severity measures were examined.ResultsSFA in NREM sleep in frontal and central brain regions was positively correlated with statistical learning scores (r = 0.41 to 0.31, p = 0.006 to 0.044). In multiple regression, greater SFA and longer sleep onset latency were significant predictors of better statistical learning performance. Delta power and OSA severity were not significantly correlated with statistical learning.ConclusionsThese findings suggest spindle activity may serve as a marker of statistical learning capability in OSA. This work provides novel insight into how altered sleep physiology relates to consolidation of implicitly learnt information in patients with moderate to severe OSA.