Tracheal sounds for the scoring of sleep respiratory events in children.

STUDY OBJECTIVES: Oronasal thermistor and nasal cannula are recommended for the scoring of respiratory events (RE) but these sensors are poorly tolerated in children. The aim of the study was to evaluate tracheal sounds (TS) and suprasternal pressure (SSP) for the scoring of RE during sleep in children. METHODS: We compared the detection and characterization of RE by AASM-recommended sensors ("AASM" scoring), with the detection and characterization of RE by the combination of TS and SSP with respiratory inductance plethysmography-sum (TS-RIP scoring), and TS and SSP only (TS scoring). RESULTS: The recordings of 17 patients were analyzed. The TS, SSP, and RIP flow signals were present during 95%, 95%, and 99% of the validated recording time, respectively, as compared to 79% and 86% for nasal cannula and oronasal thermistor. A total of 1,456 RE were scored with the "AASM" scoring, 1,335 with the TS-RIP scoring, and 1,311 with the TS scoring. Sensitivity for apnea and hypopnea detection was 88% and 84% for the TS-RIP scoring, and 86% and 77% for the TS scoring. For apnea characterization, the TS-RIP scoring sensitivities and specificities were 97% and 100%, 76% and 98%, and 95% and 97%, for obstructive, mixed, and central apnea, respectively. For the TS scoring, they were 95% and 100%, 95% and 97%, and 91% and 97%, respectively. CONCLUSIONS: TS and SSP + RIP-sum has a good sensitivity and specificity for the detection and characterization of apnea and hypopnea in children. TS and SSP alone have good sensitivity and specificity for apnea detection and characterization but lower sensitivity for hypopnea detection.

Polysomnographic findings in Rett syndrome.

INTRODUCTION: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. MATERIALS AND METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected. RESULTS: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively. CONCLUSION: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.

Parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing.

PURPOSE: Co-sleeping is common in children with co-morbid conditions. The aim of the study was to analyze the prevalence and determinants of parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing and the impact on parental sleep. METHODS: Parents of consecutive children undergoing a sleep study filled in a questionnaire on co-sleeping. RESULTS: The parents of 166 children (80 boys, median age 5.7 years (0.5-21) participated in this study. The most common co-morbid conditions of the children were Down syndrome (17%), achondroplasia (11%), and Chiari malformation (8%). The prevalence of parent-child co-sleeping was 46%. Reasons for co-sleeping were mainly reactive and included child's demand (39%), crying (19%), nightmares (13%), medical reason (34%), parental reassuring or comforting (27%), and/or over-crowding (21%). Sixty-eight percent of parents reported that co-sleeping improved their sleep quality because of reassurance/comforting (67%), reduced nocturnal awakening (23%), and child supervision (44%). Forty percent of parents reported that co-sleeping decreased their sleep quality because of nocturnal awakenings or early wake up, or difficulties initiating sleep (by 77% and 52% of parents, respectively), whereas both positive and negative associations were reported by 29% of the parents. Co-sleeping was more common with children < 2 years of age as compared to older children (p < 0.001). CONCLUSIONS: Parent-child co-sleeping is common in children with co-morbid conditions and sleep-disordered breathing. Co-sleeping was mainly reactive and had both positive and negative associations with parental sleep quality. Co-sleeping should be discussed on an individual basis with the parents in order to improve the sleep quality of the family.

Diaphragmatic dysfunction in SEPN1-related myopathy.

SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 years (1 adult) at first respiratory muscle test were studied. Five patients were treated by nocturnal noninvasive ventilation (NIV) ≥ 4 months. Mean ΔPes was within normality during tidal breathing, but the ΔPgas/ΔPes index indicated an increased contribution of the rib cage and expiratory muscles, as compared to the diaphragm, in the pediatric patients and bilateral diaphragmatic paralysis in the adult patient. Forced vital capacity (FVC) was reduced in all patients (52 ± 19%pr) with mean FVC seated-supine drop of 24 ± 7%. Global inspiratory muscle and diaphragmatic strengths were moderately reduced in 2 patients, highly reduced in 4 patients and severely reduced in the adult patient. Expiratory muscle strength was moderately reduced in 6 patients and severely reduced in the adult patient. FVC and respiratory muscle strength remained stable in 2 patients treated by nocturnal NIV within a 3-year follow-up. This study confirms that diaphragmatic dysfunction is a characteristic feature of SEPN1-RM and NIV may stabilize the decline in respiratory muscle strength.

Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.

Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients.