Polysomnogram Findings and Psychosocial and Academic Concerns in Children With Cleft Palate With or Without Cleft Lip.

Children born with a cleft palate with or without a cleft lip (CP±L) are at risk for sleep-disordered breathing, particularly obstructive sleep apnea (OSA). While OSA and CP±L have both been associated with higher risk for psychosocial and academic concerns, their combined risk has been understudied. This paper aimed to describe polysomnography findings and psychosocial and academic concerns among children with isolated (iCP±L) and syndrome-associated (sCP±L) clefts who had undergone primary palatoplasty. Medical records were reviewed from 2004 to 2022 for demographics, medical history, polysomnography results, and family-reported psychosocial and academic variables. Of the 694 patients with CP±L who had a palatoplasty, 147 had a polysomnogram and 82 had at least one follow-up polysomnogram. Across time points, only 19% to 27% of participants had normal polysomnograms and the most frequent finding was mild OSA for 30% to 35% of patients. For children with iCP±L, more frequent oxygen desaturations were significantly associated with receiving special education services and family-reported academic concerns and OSA was associated with a history of receiving mental health services. Children with sCP±L had a significantly higher Obstructive Apnea-Hypopnea Index and a greater proportion of all-day special education classroom placements relative to youth with iCP±L. Study results suggest that cleft providers should monitor for OSA and sleep-disordered breathing symptoms, collaborate with pulmonologists for evaluation and treatment of sleep concerns, and address possible sleep-associated psychosocial and academic issues.

Congenital Heart Disease in Patients With Cleft Lip/Palate and Its Impact on Cleft Management.

OBJECTIVE: To evaluate characteristics of congenital heart disease (CHD) in patients with cleft lip and/or palate (CL/P) and assess potential associations with cleft outcomes. DESIGN: Retrospective review of all patients with CL/P who underwent primary cleft treatment from 2009 to 2015. SETTING: Children's Hospital Los Angeles, a tertiary hospital. PATIENTS: Exclusion criteria included microform cleft lip diagnosis, international patients, and patients presenting for secondary repair or revision after primary repair at another institution. MAIN OUTCOMES MEASURED: Patient demographics, prenatal and birth characteristics, CL/P characteristics, syndromic status, postoperative complications, and other outcomes were analyzed relative to CHD diagnoses and management. Patients with CL/P with (+CHD) were compared to those without (-CHD) CHD using χ2 tests and analysis of variance. RESULTS: Among 575 patients with CL/P, 83 (14.4%) had CHD. Congenital heart disease rates were significantly higher in patients with cleft palate (CP) compared to other cleft types (χ2, P = .009). Eighty-one (97.6%) out of 83 +CHD patients were diagnosed prior to initial CL/P surgical assessment. Twenty-three (27.7%) +CHD patients required surgical repair of 10 cardiac anomalies prior to cleft care. Congenital heart disease was associated with delayed CP repair and increased rates of fistula in isolated patients with CP. CONCLUSIONS: Congenital heart disease is known to be more prevalent in patients with CL/P. These data suggest the condition is particularly increased in patients with CP. Severe forms of CHD are diagnosed and treated prior to cleft care however postoperative fistula may be more common in patients with CHD. Therefore, careful attention is required for patient optimization and palatal flap dissection in patients with coexisting CHD and CL/P.

Abnormalities in autonomic function in obese boys at-risk for insulin resistance and obstructive sleep apnea.

STUDY OBJECTIVES: Current evidence in adults suggests that, independent of obesity, obstructive sleep apnea (OSA) can lead to autonomic dysfunction and impaired glucose metabolism, but these relationships are less clear in children. The purpose of this study was to investigate the associations among OSA, glucose metabolism, and daytime autonomic function in obese pediatric subjects. METHODS: Twenty-three obese boys participated in: overnight polysomnography; a frequently sampled intravenous glucose tolerance test; and recordings of spontaneous cardiorespiratory data in both the supine (baseline) and standing (sympathetic stimulus) postures. RESULTS: Baseline systolic blood pressure and reactivity of low-frequency heart rate variability to postural stress correlated with insulin resistance, increased fasting glucose, and reduced beta-cell function, but not OSA severity. Baroreflex sensitivity reactivity was reduced with sleep fragmentation, but only for subjects with low insulin sensitivity and/or low first-phase insulin response to glucose. CONCLUSIONS: These findings suggest that vascular sympathetic activity impairment is more strongly affected by metabolic dysfunction than by OSA severity, while blunted vagal autonomic function associated with sleep fragmentation in OSA is enhanced when metabolic dysfunction is also present.

Association between REM sleep and obstructive sleep apnea in obese and overweight adolescents.

PURPOSE: Overweight and obese children have demonstrated reduced rapid eye movement (REM) sleep, affecting energy balance regulation and predisposition to weight gain. Obstructive sleep apnea (OSA) is a known cause of decreased REM sleep. The purpose of this study is to examine the association between the percentage of REM sleep, BMI z-score, and OSA severity in overweight and obese adolescents. METHODS: We performed a cross-sectional study of 92 (43% female) overweight and obese adolescents (13-17 years old) who underwent overnight polysomnography (PSG) at Children's Hospital Los Angeles between 2010 and 2017. RESULTS: The average Body Mass Index (BMI) z-score was 2.27 ± 0.47, with 71% having BMI z-score ≥ 2. REM% during PSG was 15.6 ± 6.8, and obstructive apnea-hypopnea index was 17.1 ± 24.3. The distribution across categories of OSA severity was 27% none (≤ 1.5 events/h), 24% mild (> 1.5-5 events/h), 8% moderate (> 5-10 events/h), and 41% severe (> 10 events/h). REM% was not associated with BMI z-score, either on univariate or multivariate regression with adjustment for age, gender, and apnea-hypopnea index (AHI). When subdivided into OSA categories, a 1-unit increase in BMI z-score was associated with a 5.96 (p = 0.03) increase in REM% in mild OSA and an 8.86 (p = 0.02) decrease in REM% in severe OSA. There was no association between BMI z-score and REM% in none and moderate OSA. CONCLUSION: Among overweight and obese adolescents, BMI z-score was associated with decreased REM% in severe OSA and unexpectedly increased REM% in mild OSA, but there was no association in none or moderate OSA.

Real-time multislice MRI during continuous positive airway pressure reveals upper airway response to pressure change.

PURPOSE: To determine if a real-time magnetic resonance imaging (RT-MRI) method during continuous positive airway pressure (CPAP) can be used to measure neuromuscular reflex and/or passive collapsibility of the upper airway in individual obstructive sleep apnea (OSA) subjects. MATERIALS AND METHODS: We conducted experiments on four adolescents with OSA and three healthy controls, during natural sleep and during wakefulness. Data were acquired on a clinical 3T scanner using simultaneous multislice (SMS) RT-MRI during CPAP. CPAP pressure level was alternated between therapeutic and subtherapeutic levels. Segmented airway area changes in response to rapid CPAP pressure drop and restoration were used to estimate 1) upper airway loop gain (UALG), and 2) anatomical risk factors, including fluctuation of airway area (FAA). RESULTS: FAA significantly differed between OSA patients (2-4× larger) and healthy controls (Student's t-test, P < 0.05). UALG and FAA measurements indicate that neuromuscular reflex and passive collapsibility varied among the OSA patients, suggesting the presence of different OSA phenotypes. Measurements had high intrasubject reproducibility (intraclass correlation coefficient r > 0.7). CONCLUSION: SMS RT-MRI during CPAP can reproducibly identify physiological traits and anatomical risk factors that are valuable in the assessment of OSA. This technique can potentially locate the most collapsible airway sites. Both UALG and FAA possess large variation among OSA patients. LEVEL OF EVIDENCE: 1 Technical Efficacy: Stage 1 J. Magn. Reson. Imaging 2017;46:1400-1408.

The Prevalence of Congenital Heart Disease in Nonsyndromic Cleft Lip and/or Palate: A Systematic Review of the Literature.

BACKGROUND: Life-threatening anomalies, such as congenital heart disease (CHD) must be identified in patients with cleft lip and/or palate (CL/P) to minimize perioperative risk. Nevertheless, screening practices vary highly among cleft teams and programs, and little is known about the prevalence and clinical significance of CHD in nonsyndromic CL/P patients. Through a systematic literature review, this study examines the demographics and severity of CHD in the nonsyndromic CL/P population. The implications of concomitant CHD in providing safe and comprehensive cleft care both in the United States and abroad are discussed. METHODS: A systematic review of PubMed literature from 1980 to September 2015 was performed following PRISMA guidelines. Studies describing rates of CHD and severity of lesions specifically in nonsyndromic and all CL/P patients were included. Analysis of cumulative data was performed according to nonsyndromic status and cleft type. RESULTS: Twelve studies were found to meet inclusion criteria. Of the 4055 nonsyndromic CL/P patients who met inclusion criteria, 7.42% (n=301) had CHD, which was significantly greater than the general population (~1%; odds ratio [OR], 7.94; P<0.0001). Congenital heart disease was significantly more common in cleft palate (CP) (OR, 15.1), combined CL and palate (CL+P) (OR, 13.5), and CL (OR, 4.23) compared with the general population. Palatal clefts (CP and CL+P) had significantly increased odds of CHD compared with CL (OR, 3.58 and 3.19, respectively, both P<0.0001). The most common forms of CHD were atrial or ventricular septal defects (n=210, 74.2%), which typically do not require surgical intervention in the general population. Clinical significance of these CHD lesions in CL/P patients is not fully known. CONCLUSIONS: Cleft management programs aim to maximize the number of patients receiving care while maintaining patient safety. Appropriate evaluation of perioperative risk necessitates understanding the prevalence of CHD in CL/P patients and the severity of those lesions. Patients with CL/P, particularly patients with palatal clefts, have significantly higher odds of having CHD than the general population. Congenital heart disease is most likely to present as atrial or ventricular septal defects, which are lesions that are unlikely to impact safety during cleft repair surgery.

Evaluation of upper airway collapsibility using real-time MRI.

PURPOSE: To develop and demonstrate a real-time MRI method for assessing upper airway collapsibility in sleep apnea. MATERIALS AND METHODS: Data were acquired on a clinical 3 Tesla scanner using a radial CAIPIRIHNA sequence with modified golden angle view ordering and reconstructed using parallel imaging and compressed sensing with temporal finite difference sparsity constraint. Segmented airway areas together with synchronized facemask pressure were used to calculate airway compliance and projected closing pressure, Pclose , at four axial locations along the upper airway. This technique was demonstrated in five adolescent obstructive sleep apnea (OSA) patients, three adult OSA patients and four healthy volunteers. Heart rate, oxygen saturation, facemask pressure, and abdominal/chest movements were monitored in real-time during the experiments to determine sleep/wakefulness. RESULTS: Student's t-tests showed that both compliance and Pclose were significantly different between healthy controls and OSA patients (P < 0.001). The results also suggested that a narrower airway site does not always correspond to higher collapsibility. CONCLUSION: With the proposed methods, both compliance and Pclose can be calculated and used to quantify airway collapsibility in OSA with an awake scan of 30 min total scan room time. J. Magn. Reson. Imaging 2016;44:158-167.

Sleep disorders in pediatric patients with agenesis of the corpus callosum.

STUDY OBJECTIVES: There is limited information about sleep in agenesis of the corpus callosum (ACC). We aim to describe the sleep architecture and respiratory parameters of children with ACC. METHODS: We performed a retrospective study of 20 patients with ACC who had polysomnography between 2000 and 2023. Demographic data, body mass index or weight for length, associated conditions, and polysomnography findings were collected. National Sleep Foundation sleep quality indicators as well as increased polysomnography arousal index ≥ 10 events/h were used in the analysis. Fisher's exact test or unpaired t test was used to compare groups. RESULTS: Average age was 5.9 ± 5.4 years old. A total of 12/20 patients were male; 6/20 were overweight/obese; 14/20 had complete ACC, and 6/20 had partial ACC; 8/20 had seizures; 15/20 had ≥ 1 National Sleep Foundation poor sleep quality indicator (decreased sleep efficiency [45%], decreased rapid eye movement sleep [53%]); and 9/20 had increased arousals. Between complete and partial ACC, there was no difference in presence of ≥ 1 poor sleep quality indicator (P = .61), sleep efficiency (P = .34), rapid eye movement sleep (P = .28), and arousals (P = 1.0). 11/18 had obstructive sleep apnea (OSA); 5/11 had associated central sleep apnea. There was no difference in OSA between those with complete and partial ACC (P = 1.0). OSA was associated with children < 3 years old (P = .01). CONCLUSIONS: Children with ACC have poor sleep quality, and many have OSA. There was no difference in sleep quality or presence of OSA between those with complete and partial ACC. OSA was seen more in younger children. Our study supports the need for screening of sleep-related disorders in patients with ACC. CITATION: Kwon A, Gu PK, Zhang C, Davidson Ward SL, Perez IA. Sleep disorders in pediatric patients with agenesis of the corpus callosum. J Clin Sleep Med. 2024;20(10):1663-1667.

Sleep-related breathing disorders in infants with spina bifida repaired prenatally and postnatally.

STUDY OBJECTIVES: Advances in prenatal repair of myelomeningocele have improved outcomes involving different organ systems. There are limited data on respiratory outcomes following prenatal surgical repair. We hypothesize there is no difference in respiratory outcomes between patients with spina bifida who have undergone prenatal vs postnatal repair. METHODS: We performed a retrospective study of 46 infants < 1 year with spina bifida seen at Children's Hospital Los Angeles from 2004-2022. Demographic data, timing of closure, neonatal course, Chiari II malformation, ventriculoperitoneal shunt, polysomnography results, and need for supplemental oxygen were collected. Unpaired t test and χ2 test were used to analyze results. RESULTS: A total of 31/46 had prenatal repair of myelomeningocele; average age at repair was 27 weeks postconception. Average age at postnatal repair was 37 weeks postconception. There was no difference in age at polysomnography. There was no difference in Chiari II malformation presence (P = .61). Sixty pecent of patients with postnatal repair and 23% in the prenatal group underwent ventriculoperitoneal shunt placement (P = .01). There was no difference in polysomnography findings between the 2 groups: central apnea index (P = .11), obstructive apnea-hypopnea index (P = .64), average oxygen saturation baseline (P = .91), average oxygen saturation nadir (P = .17), average end-tidal carbon dioxide baseline (P = .87), and average end-tidal carbon dioxide maximum (P = .54). There were no significant differences in the proportion of patients on supplemental oxygen (P = .25), central sleep apnea or obstructive sleep apnea between groups. CONCLUSIONS: Patients with spina bifida who have undergone closure of neural tube defect have persistent central apneas, obstructive apneas, and significant hypoxemia. There were no differences in the frequency or severity of sleep-disordered breathing in those with prenatal repair vs postnatal repair. CITATION: Stark KG, Wang RY, Smith KA. Sleep-related breathing disorders in infants with spina bifida repaired prenatally and postnatally. J Clin Sleep Med. 2024;20(10):1579-1583.

Effect of residential proximity to major roadways on cystic fibrosis exacerbations.

Ambient air pollution has been attributed with an increase in exacerbation frequencies among the cystic fibrosis (CF) population. This study correlates exacerbation frequency with proximity to roadways and two criteria air pollutants. Clinical data was extracted from the Cystic Fibrosis Foundation National Patient Registry and Electronic Medical Records at Children's Hospital Los Angeles (CHLA). Average annual air pollutant levels were obtained from selected US Environmental Protection Agency's monitoring stations. Geographic proximity to monitoring stations and roadways were analyzed using spatial mapping software. A total of 145 patients from the CHLA's CF center were characterized by a dichotomous exacerbation category. No significant association was determined between the frequency of exacerbations and exposure to fine particulate matter and ozone levels. Residential proximity to US-designated highways and freeways also did not achieve significance (p = 0.3777) but was noted to be correlated with major arterial roadways (p = 0.0420). Associations of environmental exposures may have important implications for future predictive models of CF clinical outcomes.

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the PHOX2B gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a Phox2b27Ala/+ mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance. CITATION: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(9):1697-1700.

Sleep fragmentation and intermittent hypoxemia are associated with decreased insulin sensitivity in obese adolescent Latino males.

BACKGROUND: Although sleep-related breathing disorder (SRBD) has been linked to insulin resistance in adults, this has not been as well established in children. We hypothesized that the severity of SRBD in adolescents was associated with metabolic impairment. METHODS: Polysomnography was performed on obese, Latino males referred for snoring. The frequently sampled intravenous glucose tolerance test was used to assess glucose homeostasis. Total-body dual-energy X-ray absorptiometry was used to quantify adiposity. RESULTS: A total of 22 males (mean age ± SD: 13.4 ± 2.1 y, BMI z-score 2.4 ± 0.3, obstructive apnea hypopnea index 4.1 ± 3.2) were studied. After correcting for age and adiposity in multiple-regression models, Log frequency of desaturation (defined as ≥3% drop in oxygen saturation from baseline) negatively correlated with insulin sensitivity. Sleep efficiency was positively correlated with glucose effectiveness (S(G), the capacity of glucose to mediate its own disposal). The Log total arousal index was positively correlated with Log homeostasis model assessment-estimated insulin resistance. CONCLUSION: Sleep fragmentation and intermittent hypoxemia are associated with metabolic impairment in obese adolescent Latino males independent of age and adiposity. We speculate that SRBD potentiates the risk for development of metabolic syndrome and type 2 diabetes in the obese adolescent population.

Neurocognitive functioning in children with obstructive sleep apnea syndrome: a pilot study of positive airway pressure therapy.

Studies of individuals with obstructive sleep apnea syndrome (OSAS) have shown impairment in neurocognitive function. This study investigated the neurocognitive function in children with OSAS before and after positive airway pressure (PAP) therapy. Twenty-one participants with suspected/documented OSAS were recruited, completing the Epworth Sleepiness Scale (ESS), the Child Sleep Habit Questionnaire (CSHQ), and/or the Pittsburgh Sleep Quality Index. Participants were administered sections of the Wechsler Intelligence Scale for Children-IV, the Delis Kaplan Executive Functioning Scales, the Test of Everyday Attention for Children, and the Wide Range Assessment of Memory and Learning--2nd Edition to assess neurocognitive function. The ESS and the CSHQ indicate that many participants had excessive daytime sleepiness and increased sleep-disordered breathing. Participants before therapy reflected neurocognitive deficiencies in all areas. Of the original 21 children, 4 completed the full PAP treatment and were reevaluated, demonstrating improvements in memory and motor speed. Children with OSAS reported sleep-disordered breathing, increased daytime sleepiness, and deficiencies in neurocognitive measures. Correcting these sleep impairments appeared to reduce global neurocognitive deficits while improving memory and processing speed.

Neonatal and infant mandibular distraction as an alternative to tracheostomy in severe obstructive sleep apnea.

CONTEXT: Surgical management for severe obstructive sleep apnea has been tracheostomy, which has significant morbidity. OBJECTIVE: To determine the efficacy of internal mandibular distraction in treating severe obstructive sleep apnea in infants and neonates. DESIGN: Retrospective review of medical records of 29 patients who underwent internal mandibular distraction for obstructive sleep apnea secondary to micrognathia. SETTING: Nonprofit, academic, pediatric medical center. PATIENTS: A total of 29 infants with obstructive sleep apnea were studied. Nine were included in the respiratory failure group requiring intubation prior to distraction surgery. The other 20 were included in the respiratory distress group and underwent preoperative polysomnography that assessed the severity of obstructive sleep apnea as measured by the apnea-hypopnea index. One patient expired following surgery; the remaining 28 underwent postoperative polysomnography determining their postoperative apnea-hypopnea index. INTERVENTIONS: Bilateral mandibular distraction with internal microdistractors. MAIN OUTCOME MEASURE: Improvement in the apnea-hypopnea index or extubation. RESULTS: The nine respiratory failure patients avoided tracheostomy and were successfully extubated postdistraction. Eight in this group had postoperative polysomnographies showing a mean apnea-hypopnea index of 3.13 (range, 0 to 13.9). All 20 patients in the respiratory distress group underwent polysomnography and showed improved apnea-hypopnea indices (p < .001). The mean pre-op apnea-hypopnea index was 39.7 (range, 4.5 to 177), and the mean post-op apnea-hypopnea index was 5.8 (range, 0 to 34). Average improvement in the apnea-hypopnea index was 33.9. The mean follow-up period was 18.7 months (1.6 to 45.2 months). CONCLUSIONS: Infants with micrognathia and obstructive sleep apnea may avoid tracheostomy and its inherent risks and complications by undergoing internal mandibular distraction, which is a viable alternative to tracheostomy.

Retrospective analysis of inpatient polysomnogram characteristics and discharge outcomes in infants with bronchopulmonary dysplasia requiring home oxygen therapy.

RATIONALE: Little is known about the polysomnogram (PSG) characteristics in infants with bronchopulmonary dysplasia (BPD), especially severe BPD, who do not need home ventilatory support but are at increased risk for chronic hypoxia and are vulnerable to its effects. OBJECTIVE: This study aims to assess PSG characteristics and change in discharge outcomes in premature infants with BPD who required oxygen therapy at discharge. METHODS: This is a retrospective chart review of premature infants with BPD who were admitted to a quaternary newborn and infant intensive care unit from January 1, 2012 to December 31, 2015 and who underwent polysomnography before discharge. MEASUREMENTS AND MAIN RESULTS: Data from 127 patients were analyzed. The median gestational age of our patients was 26 weeks and 1 day (interquartile range [IQR]: 24.71, 28.86). The majority of the patients had moderate-to-severe BPD. The median obstructive apnea-hypopnea index was 5.3 events/h (IQR: 2.2, 10.1). The median oxygen desaturation index was 15.7 events/h (IQR: 4.7, 35). Nadir oxygen saturation measured by pulse oximeter was 81% (IQR: 76-86) and the arousal/awakening index was 21.9 (IQR: 13.3-30.9). No statistically significant difference was noted between severe and nonsevere BPD groups for PSG characteristics. However, average end-tidal CO2 was significantly higher in the severe BPD group (p = .0438). Infants in the severe BPD group were intubated longer than infants with nonsevere BPD (p = .0082). The corrected gestational age (CGA) at the time of discharge (CGA-PSG) and PSG (CGA-DC) was higher in severe BPD patients but not statistically different. The majority of premature infants who underwent a PSG were discharged home with oxygen, and 69% required a titration of their level of support based on results from the PSG. CONCLUSION: Our results highlight the presence of abnormal PSG characteristics in BPD patients, as early as 43 weeks CGA. These findings have not been previously described in this patient population prior to initial discharge from the hospital. A severe BPD phenotype tends to be associated with higher respiratory morbidity compared with a nonsevere BPD phenotype for the comparable CGA. PSG, when available, may be helpful for individualizing and streamlining treatment in preparation for discharge home and mitigating the effects of intermittent hypoxic episodes.

Comparison of SIMV + PS and AC modes in chronically ventilated children and effects on speech.

BACKGROUND: Two modes of ventilation commonly used in children requiring chronic home mechanical ventilation (HMV) via tracheostomy are Assist Control (AC) and Synchronized Intermittent Mandatory Ventilation with Pressure Support (SIMV + PS). There has been no study comparing these two modes of ventilation in children requiring chronic HMV. METHODS: We studied children requiring HMV capable of completing speech testing. Study participants were blinded to changes and studied on both modes, evaluating their oxygen saturation, end-tidal carbon dioxide (PETCO2), heart rate, respiratory rate, and respiratory pattern. Subjects completed speech testing and answered subjective questions about their level of comfort, ease of breathing, and ease of speech. RESULTS: Fifteen children aged 12.3 ± 4.8 years were tested. There was no difference in mean oxygen saturation, minimum oxygen saturation, mean PETCO2, maximum PETCO2, mean heart rate, and mean respiratory rate. The maximum heart rate on AC was significantly lower than SIMV + PS, p = .047. Subjects breathed significantly above the set rate on SIMV + PS (p = .029), though not on AC. Subjects found it significantly easier to speak on AC, though there was no statistically significant difference in speech testing. Four subjects had multiple prolonged PS breaths on SIMV + PS. Many subjects exhibited an abnormal cadence to speech, with some speaking during both inhalation and exhalation phases of breathing. CONCLUSIONS: There were few differences between AC and SIMV + PS, with a few parameters favoring AC that may not be clinically significant. This includes the subjective perception of ease of speech. We also found unnatural patterns of speech in children requiring HMV.

Comparison of SIMV+PS and AC modes in chronically ventilated children and effects on speechg.

BACKGROUND: Two modes of ventilation commonly used in children requiring chronic home mechanical ventilation (HMV) via tracheostomy are Assist Control (AC) and Synchronized Intermittent Mandatory Ventilation with Pressure Support (SIMV+PS). There has been no study comparing these two modes of ventilation in children requiring chronic HMV. METHODS: We studied children requiring HMV capable of completing speech testing. Study participants were blinded to changes and studied on both modes, evaluating their oxygen saturation, end tidal carbon dioxide (PET CO2 ), heart rate, respiratory rate, and respiratory pattern. Subjects completed speech testing and answered subjective questions about their level of comfort, ease of breathing, and ease of speech. RESULTS: Fifteen children aged 12.3±4.8 years were tested. There was no difference in mean oxygen saturation, minimum oxygen saturation, mean PET CO2 , maximum PET CO2 , mean heart rate, and mean respiratory rate. The maximum heart rate on AC was significantly lower than SIMV+PS, p=0.047. Subjects breathed significantly above the set rate on SIMV+PS (p=0.029), though not on AC. Subjects found it significantly easier to speak on AC, though there was no statistically significant difference in speech testing. Four subjects had multiple prolonged PS breaths on SIMV+PS. Many subjects exhibited an abnormal cadence to speech, with some speaking during both inhalation and exhalation phases of breathing. CONCLUSIONS: There were few differences between AC and SIMV+PS, with a few parameters favoring AC that may not be clinically significant. This includes subjective perception of ease of speech. We also found unnatural patterns of speech in children requiring HMV. This article is protected by copyright. All rights reserved.

Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy.

ABSTRACT: There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h). Both patients had irregular respiratory patterns during sleep and wakefulness and were placed on empiric bilevel positive airway pressure therapy, which was well tolerated with resolution of abnormal respiratory control and hypercapnia. Patients with UNC80 and KCNJ11 gene mutations may have abnormal respiratory rhythm during sleep and wakefulness, mirroring animal models. We recommend routine PSG tests and further investigation into the respiratory control of patients with pediatric channelopathies involved in chemoreceptor function or central integration of respiratory control.

Obstructive Sleep Apnea in Patients With Congenital Central Hypoventilation Syndrome Ventilated by Diaphragm Pacing Without Tracheostomy.

STUDY OBJECTIVES: To determine presence of obstructive sleep apnea (OSA) in patients with congenital central hypoventilation syndrome (CCHS) ventilated by diaphragm pacing (DP) without tracheostomy, and to determine if OSA can be improved by DP setting changes. METHODS: We reviewed polysomnography (PSG) results of 15 patients with CCHS from October 2001 to April 2014, age 15.4 ± 7.8 years, body mass index 22.0 ± 6.0 kg/m2, and 60% female. RESULTS: Of the 22 PSG results obtained for the 15 patients with CCHS, 9 were performed with tracheostomy capped, and 13 were performed after patients underwent decannulation. OSA was present on 6 of 9 tests in patients with tracheostomy capped, including 3 patients with immediate, severe OSA necessitating that the studies be completed with tracheostomy uncapped. OSA was present on 2 of 13 tests in patients in whom decannulation had been performed. Hypoventilation was seen on only one test without OSA. On 2 of 5 tests showing OSA, OSA improved by decreasing DP amplitude settings; apnea-hypopnea index decreased from 11.1 ± 2.5 to 1.8 ± 2.5 events/h; PETCO2 decreased from 57.5 ± 3.5 to 38.5 ± 0.7 torr; SpO2 increased from 76.5 ± 0.7% to 93.0 ± 7.1%. OSA improved in one patient with slight increase in respiratory rate. Settings were manipulated in 4 tests showing OSA; no changes were attempted in the remaining study. One patient was placed on bilevel positive airway pressure with temporary suspension of DP. Age (P < .119), previous adenotonsillectomy (P < .211), and body mass index (P < .112) did not significantly contribute to OSA. CONCLUSIONS: OSA occurs in patients with CCHS ventilated by DP. However, decreasing DP amplitude settings can lessen upper airway obstruction without compromising gas exchange.

Upper Airway Narrowing during Central Apnea in Obese Adolescents.

RATIONALE: The use of real-time magnetic resonance imaging (MRI) for the evaluation during sleep-related respiratory events can lead to better understanding of airway dynamics. OBJECTIVES: To investigate the dynamic anatomy of the upper airway during central apnea. METHODS: The study included obese adolescents who snore and were otherwise healthy. Subjects underwent an overnight baseline polysomnogram. Subjects slept during a 24-minute real-time upper airway MRI scan wearing a full face mask attached to a pneumotach. Sleep versus wakefulness during the MRI was inferred from the heart rate and respiratory patterns. Central apneas were scored using tracings of facemask airflow and abdominal bellows. The cross-sectional area of the upper airway before, during, and after each central apnea event was recorded. RESULTS: Eight subjects were studied and 57 central apnea events were observed during real-time MRI scanning during natural sleep. The median age of subjects was 14.0 years (interquartile range [IQR], 13.5 to 15.5). The median average reduction in cross-sectional area during central apnea events was -38% (IQR, -27 to -51) for primary snorers and -45% (IQR, -40 to -54) for subjects with obstructive sleep apnea. The percentage decrease in cross-sectional area of upper airway during a central apnea event was positively correlated to the length of the central apnea (ρ = 0.389; r2 = 0.152; P = 0.003). CONCLUSIONS: We observed that there is upper airway narrowing during central apneas during natural sleep in obese adolescent subjects, using real-time MRI.