Home Noninvasive Ventilation in Pediatric Subjects With Neuromuscular Diseases: One Size Fits All.

BACKGROUND: Home noninvasive ventilation (NIV) improves disease courses of patients with respiratory insufficiency due to neuromuscular diseases. Data about appropriate ventilator settings for pediatric patients are missing. METHODS: In this retrospective study, ventilator settings of 128 subjects with neuromuscular disease aged 0-17 y with NIV were compared between 4 age groups (< 1 y, 0-5 y, 6-11 y, and 12-17 y). Additionally, correlations of ventilator settings with age and vital capacity were investigated in an ungrouped approach. RESULTS: Ventilator backup rate decreased significantly with age, leading to significant backup rate differences between all groups except the oldest two. Median (interquartile range) backup rates were 36 (11.5), 24 (4), 20 (4), and 20 (3) breaths/min in groups 1-4, respectively. Median [IQR] expiratory positive airway pressures (4 [0.5], 4 [0], 4 [0], 4 [1] cm H2O, respectively) and median [IQR] inspiratory positive airway pressures (12 [1.5], 12 [5], 12 [2.3], and 14 [4] cm H2O, respectively) showed no significant differences. However, correlation analyses indicated an increase of inspiratory positive airway pressure with age and decreasing FVC, as well as an increase of backup rates with decreasing FVC. CONCLUSIONS: Similar NIV settings fit all age groups of pediatric subjects with neuromuscular disease. Thus, we propose an expiratory positive airway pressure of 4-5 cm H2O, an inspiratory pressure delta of 8-10 cm H2O, and an age-oriented backup rate as a starting point for NIV titration. Patients with advanced disease stages might require slightly higher inspiratory positive airway pressures and backup rates.

Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

[This corrects the article DOI: 10.1371/journal.pone.0173144.].

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

BACKGROUND: Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking. METHODS: In 43 patients with SMA type I-III (8 type I; 22 type II; 13 type III), aged 0.6-21.8 years, auxological parameters, pubertal stage, motor function (Motor Function Measurement 32 -MFM32) as well as levels of leptin, insulin glucose, hemoglobin A1c, Homeostasis Model Assessment index and an urinary steroid profile were determined. RESULTS: Hyperleptinemia was found in 15/35 (43%) of our patients; 9/15 (60%) of the hyperleptinemic patients were underweight, whereas 1/15 (7%) was obese. Hyperleptinemia was associated with SMA type (p = 0.018). There was a significant association with decreased motor function (MFM32 total score in hyperleptinemia 28.5%, in normoleptinemia 54.7% p = 0.008, OR 0.969; 95%-CI: 0.946-0.992). In addition, a higher occurrence of hirsutism, premature pubarche and a higher variability of the urinary steroid pattern were found. CONCLUSION: Hyperleptinemia is highly prevalent in underweight children with SMA and is associated with disease severity and decreased motor function. Neuronal degradation of hypothalamic cells or an increase in fat content by muscle remodeling could be the cause of hyperleptinemia.

Upper airway microbial colonization in patients with neuromuscular disorders.

BACKGROUND AND OBJECTIVE: Inherited neuromuscular disorders (NMD) inevitably result in severe lung volume restriction and cough insufficiency associated with high morbidity and mortality. The aim of this retrospective study was to evaluate whether the airways of patients with NMD are colonized with potential pathogenic microorganisms that might contribute to the pulmonary morbidity in NMD. METHODS: In this cross-sectional study, cough swabs were obtained and cultured for microbiological analyses from 77 patients with NMD and different degrees of lung volume restriction and cough insufficiency. Upper airway microbial colonization was compared to lung function parameters and cough peak flow values. RESULTS: Upper airway microbial colonization with potential pathogenic pathogens was identified in 39/77 (51%) of the subjects. Upper airway microbial colonization was associated with lower forced vital capacity (% pred.) 26.6 ± 19.7 versus 41.8 ± 20.4, P < 0.001 and cough peak flow (l/min) 125 ± 55 versus 207 ± 100, P < 0.001. In the subgroup colonized with potential pathogenic Gram-negative bacteria or Staphylococcus aureus forced vital capacity and cough peak flow remained significantly lower compared with subjects without upper airway colonization (FVC (% pred.): 22.6 ± 16.5 vs 37.9 ± 21.5, P = 0.003; CPF (l/min): 123 ± 60 vs 179 ± 93, P = 0.013). CONCLUSION: Severe respiratory compromise in patients with NMD is associated with upper airway microbial airway colonization, which might contribute to respiratory morbidity/insufficiency.

Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders.

Inherited neuromuscular disorders inevitably result in severe lung volume restriction associated with high morbidity and mortality. The aim of this retrospective study was to evaluate the long-term effects of the regular use of mechanical insufflation/exsufflation on the course of the vital capacity. This retrospective data analysis included 21 patients (16.1 ± 6.5 years) with neuromuscular disorders and severe lung volume restriction using nocturnal noninvasive ventilation. The patients were advised to regularly use the mechanical insufflation/exsufflation twice a day for 10 minutes applying sets of three insufflation/exsufflation breath via face mask irrespective of respiratory tract infection. Data on the course of vital capacity were collected 2 years prior and 2 years after the introduction of regular use of mechanical insufflation/exsufflation. Before the introduction of mechanical insufflation/exsufflation vital capacity decreased from 0.71 ± 0.38 L to 0.50 ± 0.24 L in the last year and from 0.88 ± 0.45 L to 0.71 ± 0.38 L in the next to last year. In the first year, after regular use of mechanical insufflation/exsufflation vital capacity significantly increased by 28% (from 0.50 L to 0.64 L)-after the second year the vital capacity increase remained stable (0.64 vs. 0.65 L). These data suggest that the regular use of mechanical insufflation/exsufflation improves vital capacity in patients with neuromuscular disorders and severe lung volume restriction.

Cardiovascular effects in adolescents while they are playing video games: a potential health risk factor?

We analyzed heart rate (HR), systolic and diastolic blood pressure (SBP, DBP), oxygen consumption, and carbon dioxide production in 17 male adolescents during a racing simulation video game (VG) and compared to resting state (RS) and exercise testing (ET) measures. We were able to demonstrate a significant (p<.005) increase from RS to VG concerning HR (+13.1 bpm), SBP (+20.8 mmHg), and DBP (+12.1 mmHg) with SBP and DBP elevations exceeding 2 SD in all children and 14/17 children, respectively. The energy consumption during VG (max 1.71 kcal/min) was unaltered compared to RS and significantly lower compared to ET even at the starting strain of 25 W (1.94 kcal/min). Hemodynamic parameters tested demonstrated lower HR, unchanged SBP, and higher DBP during the VG compared with ET. Comparing all measured parameters it can be said that the relation of blood pressure and energy consumption during VG might not be favorable.