Children with Congenital Central Hypoventilation Syndrome Do Not Wake up to Ventilator Alarms.

PURPOSE: Congenital Central Hypoventilation Syndrome (CCHS) requires lifelong ventilatory support during sleep. Subjects with CCHS are vulnerable to sleep disturbances associated with treatments, monitoring alarms, and care they receive. We hypothesized that sleep would be disrupted in patients  with CCHS due to ventilatory support and other treatments at night. METHODS: An anonymous survey of patients with CCHS, age up to 17 years was conducted through REDCAP. Subjects were recruited in person, by flyer, email, and social media. Data collected included demographics, PHOX2B genotype, ventilatory support, treatments, nursing, and sleep parameters. RESULTS: We received 23 responses (35% female, 8.1 years ± 5.6). PHOX2B genotypes were 20/24 PARM (2), 20/25 PARM (4), 20/26 PARM (2), 20/27 PARM (9), ≥ 20/28 PARM (2), and NPARM (2). Two subjects did not indicate the PHOX2B genotype. 13/23 were ventilated by PPV via tracheostomy, 7 by NIPPV, 2 by diaphragm pacing, and 1 did not indicate. Additional treatments received at night included suctioning (9), aerosol (1), G-tube feeding (2), and none (11). Only 9 received nursing at night. 13 used pulse oximetry for monitoring, and 9 used both pulse oximetry and end tidal CO2 monitor. 17/23 rarely woke up due to ventilator or monitor alarms. 11/23 usually or sometimes woke up at least once a night; only 2/11 woke up due to alarms. 5/17 who rarely woke up to the alarms had night nursing. CONCLUSION: Most subjects with CCHS did not awaken to ventilator or monitoring alarms and a majority of these patients did not have nighttime nursing. (Mathur et al. in Sleep 43(Supplement_1):A333, 2020).

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.

Outcomes and causes of death in children on home mechanical ventilation via tracheostomy: an institutional and literature review.

OBJECTIVE: To describe outcomes and causes of death in children on chronic positive-pressure ventilation via tracheostomy. STUDY DESIGN: We conducted a retrospective observational cohort analysis of 228 children enrolled in an university-affiliated home mechanical ventilation (HMV) program over 22 years (990 person-years). Cumulative incidences of survival and liberation from HMV are presented. Time-to-events were compared by reason for chronic respiratory failure (CRF) and age and date of HMV initiation with Kaplan-Meier and Cox regression analyses. Circumstances of death are described. RESULTS: Of our cohort, 47 of 228 children died, and 41 children were liberated from HMV. The 5-year cumulative incidences of survival and liberation were 80% and 24%, respectively. Being placed on HMV for chronic pulmonary disease was independently associated with liberation from HMV (hazard ratio, 7.38; 95% CI, 3.0-18.2; P < .001). Neither age nor reasons for CRF were associated with shortened survival. Progression of underlying condition accounted for only 34% of deaths; 49% of deaths were unexpected. CONCLUSION: Most children on HMV survive or were weaned off. However, a sizable number of children in our cohort died, and many deaths were unexpected and from causes not directly related to their primary reason for CRF.

Sudden infant death syndrome: changing epidemiologic patterns in California 1989-2004.

OBJECTIVE: To evaluate the changes of sudden infant death syndrome (SIDS) epidemiology in California. STUDY DESIGN: We used 1989 to 2004 California statewide death registry data. SIDS cases were selected by "age of decedent" <1 year and "cause of death" listed as SIDS. RESULTS: We identified 6303 cases (61% males) of SIDS. SIDS incidence rate decreased by 77%, from 1.38 per 1000 births in 1989 to 0.31 per 1000 births in 2004. No further decrease in SIDS incidence was noted from 2002 to 2004. The incidence rate was highest among blacks (2.02 per 1000 births) and lowest in Asian/Pacific Islanders (0.46 per 1000 births). The overall median age at death was 82 days, with no significant change over time. However, the peak age at death shifted from 2 months of age in 1989 to 2001 to 3 months of age in 2002 to 2004. Seasonal variation in the incidence of SIDS was attenuated. The difference in incidence rates between weekdays and weekends increased over the study period. CONCLUSIONS: The incidence rate of SIDS declined in California from 1989 to 2001, with no further decline after 2002. Several epidemiologic changes were noted: The peak age of SIDS death shifted from 2 months to 3 months of age; seasonal variation diminished; and weekday to weekend difference became more pronounced.

Initiation of home mechanical ventilation in children with neuromuscular diseases.

OBJECTIVE: To determine how often home mechanical ventilation (HMV) is instituted electively in children with respiratory failure from neuromuscular diseases and whether there were opportunities to discuss therapeutic options with patients/families before respiratory failure. METHODS: Patients with neuromuscular disease (n = 73) requiring HMV (age, 2 months to 24 years) were studied. Whether HMV was initiated nonelectively because of acute respiratory failure or electively before acute respiratory failure, and opportunities for health care providers to discuss therapeutic options with patients/families before acute respiratory failure (hospitalization with pneumonia, clinic visits for preoperative evaluation, pulmonary function testing [PFT] and/or polysomnography [PSG]) were recorded. RESULTS: HMV was initiated electively in 21% of patients with neuromuscular disease; 69% of the nonelective HMV group had HMV initiated after respiratory failure caused by pneumonia. In the nonelective group, opportunities for discussion of therapeutic options with the patients and families could have occurred before respiratory failure during 111 hospitalizations for pneumonia, 13 preoperative evaluations, 43 abnormal PFTs, and 24 abnormal PSGs. CONCLUSIONS: Most patients with neuromuscular disease had HMV initiated nonelectively after acute respiratory failure caused by pneumonia. Opportunities for discussing the therapeutic options with patients and families before respiratory failure were missed or ineffective.