Jorge Olmo Arroyo

Central sleep apnea in children: experience at a single center.

OBJECTIVE Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. PATIENTS/METHODS A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) >5 events/h. The clinical management and the patients outcome were analyzed. RESULTS Eighteen of 441 (4.1%) patients recorded during the study period had CSA. The median CAI, pulse oximetry, and oxygen desaturation index were 13/h (range 6-146), 96% (93-98%), and 18/h (6-98), respectively. Neurosurgical pathologies represented the most common underlying disorders with Arnold-Chiari malformation in four and ganglioglioma in three patients. Other underlying disorders were Prader-Willi syndrome (N = 3), achondroplasia (N = 2), and Down syndrome, with one patient having an achondroplasia and a Down syndrome. The remaining six patients had other genetic diseases. The most common investigation was brain magnetic resonance imaging (MRI). Individualized management with neurosurgery and/or chemotherapy, continuous positive airway pressure (in two patients having associated obstructive events), or noninvasive ventilation resulted in an improvement in CSA and the clinical presentation in 11 patients. CONCLUSION CSA is rare in children >1 year of age. Underlying disorders are dominated by neurosurgical disorders. Individualized management is able to improve CSA and the clinical condition in most patients.

Validation of a Suprasternal Pressure Sensor for Sleep Apnea Classification in Children.

STUDY OBJECTIVES The recognition and characterization of respiratory events is crucial when interpreting sleep studies. The aim of the study was to validate the PneaVoX sensor, which integrates the recording of respiratory effort by means of suprasternal pressure (SSP), respiratory flow, and snoring for the classification of sleep apneas in children. METHODS Sleep recordings of 20 children with a median age of 7.5 (0.5-16.5) years were analyzed. Scoring of apneas according to the American Academy of Sleep Medicine (AASM) guidelines using nasal pressure, oronasal thermal sensor and respiratory efforts by means of respiratory inductance plethysmography (RIP), was compared to a scoring using the PneaVoX sensor and nasal pressure, without the oronasal thermal sensor nor RIP, during a dual blind study. RESULTS The percentage of sleep time recording without artifacts was 97%, 97%, 87%, 65%, and 98% for the respiratory flow and SSP from the PneaVoX sensor, oronasal thermal sensor, nasal pressure, and RIP, respectively. As compared to the AASM scoring with RIP, sensitivity and specificity of the SSP for the scoring of central apneas were 75% and 99% for the first reader, and 70% and 100% for the second reader, respectively. Sensitivity and specificity for the scoring of obstructive apneas were 98% and 75%, and 100% and 70%, respectively. A significant number of apneas scored as central by RIP were scored as obstructive by the SSP. CONCLUSIONS The PneaVoX sensor has a high degree of scorability in children. The PneaVoX sensor is a useful adjunct for characterizing apneas.

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.

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.

Diaphragmatic function in infants and children with congenital diaphragmatic hernia: a cross-sectional study

OBJECTIVES Few studies have evaluated long-term diaphragmatic function in congenital diaphragmatic hernia (CDH). The aim of our cross-sectional study was to assess diaphragmatic function in infants and young children with CDH after surgical repair. METHODS All the patients with CDH repair followed in our centre between February 2014 and January 2016 were enrolled. Patients with a postnatal diagnosis after 1 month of life were excluded. Breathing pattern and diaphragmatic function were assessed using esophageal and gastric (Pgas) pressure recording after surgery, or at 1 or 5 years of age. RESULTS Twenty-eight patients (24 left-sided CDH, 6 with diaphragmatic patch) were included. Twelve patients were assessed before hospital discharge (Y0), 6 around the age of 1 year (Y1) and 10 around the age of 5 years (Y5). Mean antenatal estimated pulmonary volume (VLA) was 42 ± 10% (n = 23). Diaphragmatic strength, assessed by transdiaphragmatic pressure during crying/sniff, was low at Y0 (47 ± 18 cmH2O, n = 12) and within normality at Y5 (81 ± 15 cmH2O, n = 7). Diaphragmatic dysfunction, assessed by Pgas during crying/sniff, was present at Y0 (-58 ± 22 cmH2O, n = 12) and Y1 (-53 ± 36 cmH2O, n = 5) and still present at Y5 (3 ± 9 cmH2O, n = 7) but to a lesser extent. The diaphragmatic tension time index (TTdi), which estimates diaphragmatic endurance, was high at Y0 (0.10 ± 0.04, n = 11) and within normality at Y5 (0.03 ± 0.01, n = 6). VLA correlated with neonatal TTdi (r = -0.961, P < 0.001). CONCLUSIONS Infants with CDH have diaphragmatic dysfunction in the neonatal period, which correlates with VLa and normalizes with age. Future longitudinal studies should assess the role of CDH side, size of diaphragmatic defect and patch repair.

A comparison of pulse oximetry and cerebral oxygenation in children with severe sleep apnea–hypopnea syndrome: a pilot study

Near infrared spectroscopy (NIRS) has been used to assess the impact of obstructive sleep apnea–hypopnea syndrome (OSAHS) on cerebral oxygenation. However, the relationship between the variations in the cerebral tissue oxygen saturation (ΔTOI) and pulse oximetry (ΔSpO2) has not been assessed in children with OSAHS. Consecutive clinically stable children with severe OSAHS [apnea–hypopnea index (AHI) >15 events h−1] diagnosed during a night‐time polygraphy with simultaneous recording of cerebral oxygenation with NIRS (NIRO‐200NX, Hamamatsu Photonics KK) were included between September 2015 and June 2016. Maximal ΔSpO2 (SpO2 drop from the value preceding desaturation to nadir) and concomitant variations in transcutaneous carbon dioxide (ΔPtcCO2), maximal ΔTOI and maximal variations in cerebral oxygenated (O2Hb) and deoxygenated (HHb) haemoglobin were reported. The relationships between ΔSpO2, ΔPtcCO2 and ΔTOI, ΔO2Hb and ΔHHb were investigated. The data from five children (three boys, aged 9.6 ± 6.7 years, AHI 16–91 events h−1) were analysed. Strong correlations were found between ΔSpO2 and ΔTOI (r = 0.887, P < 0.001), but also with ΔO2Hb and ΔHHb with a particular pattern in the youngest child with a dark skin pigmentation. Mean ΔSpO2 was 20 ± 17% and mean ΔTOI was 8 ± 7%. Maximal ΔSpO2 of approximately 70% were coupled with ΔTOI of no more than 35%. ΔPtcCO2 correlated only weakly with the cerebral oxygenation indexes. This pilot study shows a strong relationship between pulse oximetry and cerebral oxygenation in children with OSAHS, with lower changes in TOI compared to SpO2. Future studies should address the clinical impact of respiratory events on cerebral oxygenation and its consequences.