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ERS Annual Congress Munich

6–10 September 2014

EDUCATIONAL MATERIAL

Meet the Expert - ME10

Paediatric long term ventilation

Tuesday, 9 September 2014 13:00–14:00

Room 12 (ICM)

You can access an electronic copy of these educational materials here:

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Th e ERS Handbook of Paediatric Respiratory MedicineEdited by Ernst Eber and Fabio Midulla

ISBN 978-1-84984-038-5

Th e ERS Handbook of Paediatric Respiratory Medicine comprises more than 100 sections covering the whole spectrum of paediatric respiratory medicine, from anatomy and development to disease, rehabilitation and treatment.

Th e book is structured to tie in with the paediatric HERMES syllabus, making it an essential resource for anyone interested in the fi eld and the ideal training aid for those wishing to take the European Examination in Paediatric Respiratory Medicine.

Accredited by EBAP for 18 hours of European CME credit

To buy printed copies, visit the ERS Bookshop in Hall A1, stand D.01.

Visit ersbookshop.com

THE ERS HANDBOOK OF paediatric respiratory medicine

Meet the Expert 10 Paediatric long term ventilation

Prof. Renato Cutrera

Pediatric Pulmonology Unit Sleep & Long Term Ventilation Service

Pediatric Hospital Bambino Gesù Piazza S. Onofrio 4

00165 Rome Italy

[email protected] AIMS: The aims of the session are to: a) Describe the literature on paediatric long-term ventilation in Europe, including the National Surveys; b) Discuss the efficacy of different kinds of long-term ventilation in children (i.e., CPAP, NIPPV, and tracheostomy ventilation); c) Present the available data for different diseases or group of diseases; d) Discuss different models of assistance for families and care givers; and e) Discuss the need for European guidelines on paediatric long-term ventilation. HERMES LINKS PAEDIATRIC: Technology-dependent children 3 Invasive and noninvasive home ventilation support including control investigation and weaning strategies. TARGET AUDIENCE: Pulmonologists, paediatric pulmonologists, respiratory therapists, and respiratory nurses. SUMMARY Home mechanical ventilation (HMV) via tracheostomy is perhaps the most demanding and risky of technology dependencies. Since the 1960s, HMV programs in the United States, and later across the globe, have demonstrated the relative safety and efficacy of HMV for supporting children with chronic respiratory failure outside of intensive care settings [1]. Even with this life-sustaining support, these children have complex chronic conditions, often with associated co-morbidities, that put them at risk for critical illness and death. The incidence of LTV in children has increased significantly over the last 15 years, with an accompanying 10-fold increase in prevalence. The prevalence of invasive ventilation has not changed over time, [2] and indeed, the relative proportion of tracheostomy ventilated patients has decreased [3]. Rather, the increase in LTV is attributable to an increase in the use of NIV. The indications for tracheotomy have been changing over the past 40 years. In the 1970s, infectious processes, such as epiglottis and laryngotracheobronchitis, were the most common indications. As management of these processes has changed and survival rates of premature infants and patients with congenital anomalies have increased, we have seen the most common indications for tracheotomy changing over the last decade. Today pediatric tracheotomies are most commonly performed for prolonged ventilator dependence, upper airway obstruction, and hypotonia secondary to neurologic disorders [4]. The majority of Italian, United Kingdom, Massachusetts and France children on LTV are followed in pediatric units [5]. Several reports from the United Kingdom and Massachusetts showed that pediatric pulmonologists and general pediatricians are the main referred physicians for the management of LTV in children, with pediatric intensivists being rarely involved [5,6]. Choices about the type of patient undergoing invasive mechanical ventilation in different countries vary and are influenced by different ethical points of view. An increasing number of children with chronic hypercapnic respiratory failure are currently treated with non-invasive ventilation [7-10]. Non-invasive ventilation has some peculiarities. By definition, it is a non-invasive technique, which can be applied on demand and preferably at night, causing less morbidity and discomfort [7,8]. It also allows preserving important functions such as swallowing, feeding, speaking, and coughing. Heating and

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humidification of the inspired air are greatly respected [11]. Non-invasive ventilation in pediatric practice has allowed the reduction of the number of children destined to tracheostomy, the limitation and/or the delay of the intubation of children with acute respiratory failure and/or exacerbation of chronic respiratory failure [11]; and also helped reduce the length of stay in the pediatric intensive care units of children who have been extubated and weaned from invasive ventilation in a shorter time [12]. Avoiding intubation prevents vocal cords or trachea damages, and reduces the risk of lower respiratory tract infections [13]. Non-invasive ventilation has also a better impact on quality of life of the patient with respect to the tracheostomy [11,16]. Non-invasive ventilation in children is indicated essentially for: 1) Diseases due to increased respiratory load (intrinsic cardio- pulmonary disorders, abnormalities of the upper airways, especially skeletal deformities of the chest wall); 2) Disorders characterized by weakness of the respiratory muscles (neuromuscular diseases, spinal cord injuries); 3) Abnormal neurological control of ventilation (congenital or acquired alveolar hypoventilation syndrome) [8,11]. Non-invasive ventilation can alleviate chronic respiratory failure through the correction of hypoventilation, the improvement of respiratory muscles function and reducing the workload of the respiratory system. An effective reduction of nocturnal hypercapnia by mechanical ventilation leads to an improvement of the daytime carbon-dioxide (CO2), during spontaneous breathing [7]. Long-term non-invasive ventilation is not applicable to all children, as it requires a degree of cooperation, being more difficult to use in younger patients [8,11,16,17]. The ideal candidate for long term non- invasive ventilation should be a cooperative and in stable clinical condition patient [11,17]. Nocturnal or constant hypercapnia (PaCO2 > 55 – 60 mm Hg) should be present [17]. Indispensable prerequisite to its use is the presence of a certain degree of respiratory autonomy. Usually, it is applied at night and/or during daytime sleep (especially in younger children) [11]. Patients requiring ventilation throughout 24 h/day are usually not candidates for non-invasive ventilation [16,17]. The interface choice depends on the characteristics of the patient (age, facial characteristics, degree of cooperation, and severity of respiratory impairment). Regardless of the interface used, it is fundamental to limit the air leaks that may reduce the effectiveness of the ventilation [8]. Many commercial interfaces are actually available for children. Nasal masks are the most often used interfaces, but there is getting a growing experience with oro-nasal and full-face masks [11,17]. Non-invasive ventilation in children can be performed with volume or pressure-targeted ventilators, according to the control variable through which the ventilator produces the inspiration [8,16]. Pressure-targeted ventilation is the most often used non-invasive ventilation modality [8,11,17]. Continuous positive airway pressure does not actively assist inspiration and therefore is not a “true” ventilator mode [19]. Continuous positive airway pressure is a spontaneous modality with work of breathing entirely up to the patient [8,16,19]. Continuous positive airway pressure support is based on the delivery to the airways of a constant predefined pressure for the whole respiratory cycle. Continuous positive airway pressure acts by elevating the intra-luminal pressure of the upper airway at levels higher than those of the critical transmural pressure that determines the collapse of the upper airway. This pressure keeps the airways open, promotes relaxing of the upper airway dilator muscles, and reduces inspiratory muscles activity of the upper airways and diaphragm [16,19]. Bi-level PAP provides respiratory support at two different levels. This method is based on the principle for which the pressure required to maintain the airway patency is different within the same respiratory cycle and requires higher values in the inspiratory phase and minors in the expiratory phase [5]. Using bi-level PAP is possible, therefore, to adjust separately a lower expiratory positive airway pressure (EPAP, CPAP, PEEP) and higher inspiratory positive airway pressure (IPAP, PIP). The task of the clinician is to determine the extent of the work exerted by the mechanical ventilator and the level of pressure must be set to reach this goal [11]. The inspiratory pressure, therefore, enhances the patient's spontaneous inspiratory act, and should, therefore, be delivered as synchronous as possible with the patient's respiratory efforts [8,16,19]. Expiratory pressure, when used with a circuit provided with adequate

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exhalation port, allows: eliminating more easily exhaled air; and preventing the re-breathing of CO2. The tidal volume will be generated as the result of the delta between these two pressures within certain limits (usually 15 cm H2O) [22], the flow resistance of the ventilator circuit, any airflow limitation and the compliance of the chest wall and lungs [11,19]. In PSV mode, the ventilator ensures a maximum value of inspiratory pressure in the airways equal to that set by the operator. This pressure support allows the patient to achieve more effective breaths. The patient determines respiratory rate, inspiratory flow and inspiratory time by determining the onset of inspiration, muscle strength applied during the inspiration and passage to the expiration [25]. This mode is preferable in patients capable of spontaneous breathing and able to activate the ventilator cycles. On the contrary, it is not recommended for patients with severe depression of consciousness or with significant impairment of the muscle pump efficiency or ventilatory drive [23,24]. Pressure support ventilation can be performed in spontaneous or spontaneous/timed (S/T) mode. In the spontaneous mode the ventilator is triggered by the patient, the respiratory acts are supported (limited) by the ventilator, and cycled in expiration by the patient. In the spontaneous/timed mode, a combination of supported spontaneous breathing and mechanically generated acts will be possible. If the patient's spontaneous respiratory rate is lower than the pre-set (back up rate), mechanical acts are triggered, limited and cycled by the ventilator. Ventilator cycles in expiration when it senses a fall in inspiratory flow rate below a threshold value, or at a pre-set time [19]. Pressure support ventilation can be performed in spontaneous or spontaneous/timed (S/T) mode. In the spontaneous mode the ventilator is triggered by the patient, the respiratory acts are supported (limited) by the ventilator, and cycled in expiration by the patient. In the spontaneous/timed mode, a combination of supported spontaneous breathing and mechanically generated acts will be possible. If the patient's spontaneous respiratory rate is lower than the pre-set (back up rate), mechanical acts are triggered, limited and cycled by the ventilator. Ventilator cycles in expiration when it senses a fall in inspiratory flow rate below a threshold value, or at a pre-set time [19]. In PCV mode, the operator sets the maximum level of pressure that is delivered by the ventilator for the duration of the inspiratory act, the respiratory rate and the inspiratory : expiratory ratio (I:E), in the absence of respiratory effort. Breaths delivered by the ventilator are determined by a pressure, duration of inspiration and expiration default. Key parameter is the derived tidal volume that depends on the ratio between inspiratory pressure, inspiratory time and mechanical properties of the lung–thorax system [19]. Triggering by the patient is allowed, but the ventilator delivers a respiratory act identical to the pre-set respiratory act. This mode of ventilation is defined assisted/controlled (A/C) for which a combination of assisted spontaneous breathing and controlled acts will be possible if the spontaneous respiratory rate is lower than the pre-set (back up rate) [19]. Non-invasive ventilation in children is usually a consequence of the following situations: 1) Inability to wean the child from mechanical ventilation began to treat an acute respiratory failure, 2) Re-exacerbation of a chronic respiratory failure, 3) Slow progression towards different degrees of hypercapnic respiratory failure, 4) Sleep disorders of breathing with hypercapnia [11,17,19]. Accurate monitoring during non-invasive ventilation is very important to ensure its effectiveness and safety. The level and type of monitoring should be proportional to the patient's clinical condition [8,18]. For patient being treated acutely, in-hospital continuous monitoring is indicated with a pulse-oxymeter or a multichannel cardio-respiratory monitor. A strict clinical observation is also mandatory and it must always assess patient's comfort, respiratory rate, level of dyspnoea, oxygen saturation, signs of possible patient-ventilator asynchrony, intolerance to interface, air leaks, gastric distension, dry eyes, and damage to the facial skin. Arterial blood gas analysis should be assessed after 1–4 h after the non-invasive ventilation establishment and 1 h after each modification of the ventilator setting or FiO2 concentration [8,16]. For patients being treated with non-invasive ventilation electively, once a good patient's tolerance is reached, a titration study must be performed in order to optimize ventilator pressures [27]. According to the local diagnostic availabilities, a polysomnography, a cardio- respiratory sleep study or a nocturnal non-invasive monitoring of oxygen saturation (SpO2) and carbon dioxide (CO2) should be performed [23–25]. Sending the patient home with a long-term non-invasive ventilation program needs a series of steps.

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An accurate non-invasive ventilation training session should take place in a pediatric comfortable environment [17]. An assessment of the clinical and respiratory function stability should be performed for a safe use. Before discharge a comfortable interfaces selection should be carried out. A detailed and personalized follow- up plan set in proportion to the child's stability level must be provided. Prior to discharge, the patient's respiratory status should be stable on the same ventilator and circuit which the child will use at home, at least for several days. Home equipment must be evaluated in each child prior to discharge [11,17,23,25]. Following will be briefly discussed data available in the literature for major diseases for which the non-invasive ventilation can be effective. Obesity in children is assumed to serve as a major risk factor in pediatric obstructive sleep apnea syndrome (OSAS). However, the prevalence of OSAS in otherwise healthy obese children from the community is unknown. A cross-sectional, prospective, multicenter study on 248 children show the prevalence of OSAS in obesity ranged from 21.5% to 39.5% depending on whether obstructive apnea-hypopnea index (OAHI), obstructive RDI (ORDI), or respiratory disturbance index (RDI) were used. The prevalence of obstructive sleep apnea syndrome (OSAS) in obese children from the general population is high. Obese children should be screened for the presence of OSAS. The patient with obesity is particularly susceptible for the development of sleep-disordered breathing. This predisposition is determined by a functional respiratory condition in which airway obstruction, restriction of the rib cage and lack of muscle pump may overlap determined by the adipose tissue deposition. Metabolic complications, cardiovascular and neurocognitive have been described both in the obese than normal-weight patients with obstructive sleep apnea [26-32]. The goals of titration non invasive ventilation usually were to eliminate obstructive events, improve ventilation such that the SpO2 was > 90%, the transcutaneous PCO2 was less than a set goal (such as 45 to 50 mm Hg), if sufficient pressure to achieve these goals was tolerated. There is no large data in the literature about the effectiveness of the ventilation in these subjects and how the NIV helps to improve symptoms as neurocognitive problems [23,24, 32-36]. Prader Willi syndrome subjects are particularly susceptible for developing sleep-disordered breathing due to morbid obesity, muscular hypotonia, and reduced sensitivity to hypoxemic and hypercapnic stimuli [37]. The prevalence of obstructive sleep apnea in this group of patients is 50% [37]. In the literature, there are currently few data on the effectiveness of non-invasive ventilation. These data regard case reports or short case series. There are no long term studies on the efficacy and tolerability of non-invasive ventilation [38-42]. Duchenne muscular dystrophy (DMD) is an inherited, progressive muscle wasting disorder caused by mutations in the dystrophin gene. Patients with DMD are at risk of respiratory complication as their condition deteriorates due to progressive loss of respiratory muscle strenght. These complications include ineffective cough, [45,46] nocturnal hypoventilation, sleep disordered breathing, and ultimately daytime respiratory failure. [47,48] A proactive approach to respiratory management that includes use of assisted cough and nocturnal ventilation has been widely shown to prolong survival. [49] Guidelines for respiratory management in DMD have already been published. [49] Although the expert panel recognizes that assisted ventilation via tracheostomy can prolong survival, other authors strongly recommend the use of non-invasive modes of assisted ventilation. [50] Central Hypoventilation syndromes are a group of diseases whose common denominator is an increased arterial concentration of serum carbon dioxide due to inadequate gas exchange. Affected children require mechanical ventilation, but a multidisciplinar team is often necessary to manage these complex conditions. Congenital Central Hypoventilation Syndrome (CCHS) and ROHHAD (Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation) are the two most significant diseases of this group. Because children with hypoventilations syndromes usually do not have lung disease, they have the greatest number of options for different techniques to provide chronic artificial ventilation at home. Following the American Thoracic Society (ATS) statement for CCHS, if subjets are tracheostomized, they are normally ventilated by portable positive pressure

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ventilator; if they are without tracheostomy, they normally use bilevel positive airway pressure via nasal or face mask [51]. There are few patients without tracheostomy who are ventilated by negative pressure with chest shell (cuirass), wrap, or portable tank ventilator. Diaphragm pacing are used especially by patients who require 24-hour ventilation. Diaphragm pacing generates breathing using the child’s own diaphragm as the respiratory pump. The system produces an electrical stimulation of the phrenic nerve causing a diaphragmatic contraction, which generates the breath [52]. Even if NIV is not recommended as first option in CCHS, literature is producing papers which underline the importance to choose ventilation following the clinical presentation and the genotype, and moreover to practice an early transition between IMV and NIV. It’s very important to select the best mode of artificial ventilatory support for each individual [51,52]. These children must be well-monitored at home, with pulse oximeter and PETCO2 monitor used continuously in the home during all sleep time and ideally for hourly/periodic checks during awake time. A reasonable range is PETCO2 30 to 50 mm Hg (although ideally 35–40 mm Hg) and SpO2 of 95% or higher [51,52]. Cystic fibrosis (CF) is the most common life-threatening autosomal recessively inherited disease in Caucasian populations, with a carrier rate of 1 in 25 and an incidence of 1 in 2,500 live births (CF Foundation 2006). Although this is a multisystem disease, the primary cause of death in CF is respiratory failure. In CF, severe airway obstruction and inflammatory bronchiectatic processes results in sputum retention, an increase in breathlessness, hyperinflation, ventilation perfusion mismatch, a decrease in respiratory muscle strength, and an inability to maintain arterial oxygenation within normal limits. Non-invasive ventilation may be beneficial in acute respiratory failure in CF and could have a role to play in the management of chronic respiratory failure by acting as a bridge to transplantation as it may reverse or stabilise hypercapnia and hypoxaemia by improving alveolar ventilation, reducing respiratory muscle fatigue, or both [53]. While the addition of nocturnal oxygen improves hypoxaemia and may have favourable effects on cor pulmonale, it has not been shown to affect the progression of disease in CF [54]. There is also some evidence that the use of oxygen therapy may be at the expense of worsening hypercapnia [55,56]. The use of NIV has been proposed as a means to temporarily reverse this process by assisting nocturnal ventilation. Studies show that PSV performed with a nasal mask during the CPT was associated with an improvement in respiratory muscle performance and with a reduction in oxygen desaturation. PSV has been shown to reduce diaphragmatic activity and to prevent diaphragmatic fatigue in chronic obstructive pulmonary disease patients. The beneficial effect of PSV on SpO2 can be explained by the large tidal volumes, which can improve ventilation-perfusion mismatching. Spinal muscular atrophy is an incurable genetic disease of the anterior horn cell with a frequency of 8 per 100000 live births. Within the past 2 decades, the causative gene, survival motor neuron 1 (SMN1), was identified, along with a disease-modifying gene, SMN2. The disease is associated with a high mortality rate in infancy and severe morbidity in childhood. Management depends on treating or preventing complications of weakness and maintaining quality of life [57]. The impact of ventilator support on the natural history of neuromuscular disease has become clearer over the last 2 decades as techniques have been more widely applied. Non-invasive ventilation allows some patients with non-progressive pathology to live to nearly normal life expectancy, extends survival by many years in patients with other conditions (muscular dystrophy), and in those patients with rapidly deteriorating disease (SMA) survival may be increased, but symptoms can be palliated even if mortality is not reduced. The combination of NIV with cough-assist techniques decreases pulmonary morbidity and hospital admissions. Trials have confirmed that non-invasive ventilation works in part by enhancing chemosensitivity, and in patients with many different neuromuscular conditions the most effective time to introduce non-invasive ventilation is when symptomatic sleep-disordered breathing develops [58]. REFERENCES 1. B.J. Make, N.S. Hill, A.I. Goldberg, J.R. Bach, G.J. Criner, P.E. Dunne et al. Mechanical

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47. Toussaint M et al. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007;131:368-75

48. Eagle M et al. Survival in Duchenne muscular dystrophy:improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscular Disord 2002;12:926-29

49. Finder JD et al. Respiratory care of the patient with Duchenne muscular dystrophy: an official ATS consensus statement. Am J Respir Crit Care Med 2004;170:456-65

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51. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.

52. Ramanantsoa N1, Gallego J. Congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2013 Nov 1;189(2):272-9. doi: 10.1016/j.resp.2013.05.018. Epub 2013 May 18.

53. Hodson ME1, Madden BP, Steven MH, Tsang VT, Yacoub MH. Non-invasive mechanical ventilation for cystic fibrosis patients: a potential bridge to transplantation. Eur Respir J. 1991 May;4(5):524-7.

54. Kallet RH1, Volsko TA, Hess DR. Respiratory Care year in review 2012: invasive mechanical ventilation, noninvasive ventilation, and cystic fibrosis. Respir Care. 2013 Apr;58(4):702-11. doi: 10.4187/respcare.02412.

55. Moran F1, Bradley JM, Piper AJ. Non-invasive ventilation for cystic fibrosis. Cochrane Database Syst Rev. 2013 Apr 30;4:CD002769. doi: 10.1002/14651858.CD002769.pub4.

56. Gozal D. Nocturnal ventilatory support in patients with cystic fibrosis: comparison with supplemental oxygen. Eur Respir J. 1997 Sep;10(9):1999-2003.

57. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):1027-49.

58. Roper H, Quinlivan R; Workshop Participants. Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK. Arch Dis Child. 2010 Oct;95(10):845-9. doi:10.1136/adc.2009.166512. Epub 2009 Oct 8.

11

EVALUATION 1. In cystic fibrosis non invasive ventilation can produce:

a. may reverse or stabilize hypercapnia and hypoxemia by improving alveolar ventilation, reducing respiratory muscle fatigue, or both.

b. the addition of nocturnal oxygen improves hypoxemia and may have favorable effects on pulmonary heart disease.

c. PSV performed with a nasal mask during the chest physiotherapy is associated with an improvement in respiratory muscle performance and with a reduction in oxygen desaturation.

d. all the previous. 2. In a neuromuscular patient, non-invasively ventilated which is the best choice of interface to

prescribe at home: a. full-face mask b. oronasal mask c. nasal mask d. none of the previous

3. Which is the suggested modality of non invasive ventilation for a type 1 SMA patient?

a. Non-invasive low- span pressure support ventilation b. Non-invasive high span pressure assisted/controlled ventilation c. Non-invasive negative pressure ventilation d. Non-invasive high - span pressure support ventilation

4. What does it mean ROHHAD?

a. Rapid Obesity Hyperphagia Hypothalamic Autonomic Disorder b. Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic

Dysregulation c. It’s an Ondine’s syndrome synonymous d. None of the above

5. Which of these factors favors the development of sleep-disordered breathing in patients with

Preder-Willi syndrome? a. Obesity b. Hypotonia c. Altered ventilatory response to the hypoxemic and hypercapnic stimulus d. All the previous

6. Which is the most frequent type of ventilation in CCHS?

a. Positive pressure A/C ventilation via tracheostomy b. Bi-level positive airway pressure via nasal or face mask c. Negative pressure ventilation d. Diaphragmatic pacing

Please find all answers at the back of your handout materials

12

PEDIATRIC LONG TERM VENTILATION

Renato Cutrera, MD, PhD

Pediatric Pulmonology Unit

Sleep & Long Term Ventilation Service

Pediatric Hospital Bambino Gesù – Rome, Italy

[email protected]

13

Faculty disclosure

• Airliquide – Institutional Grant• Resmed – Institutional Grant

14

Introduction

AIMS• To describe the literature data on pediatric long term ventilation in

Europe including the National Surveys available on the topic.• To discuss efficacy data on different kinds of long term ventilation in

children - CPAP, NIPPV, tracheostomy ventilation• To present the data available for different diseases or group of

diseases.

15

Pediatric Long term Ventilation: Definition

any child below the age of 17 who is medically stable and requires a mechanical aid for breathing either invasively by tracheostomy or by non-invasive mask interface for all or part of the 24 h day

Jardine E et al. BMJ 1999

need for mechanical ventilation delivered via tracheotomy (invasive mechanical ventilation) or non invasive interfaces (non-invasive ventilation – NIV), for at least three months after its commencement, for a minimum amount of six hours per day, in medically stable condition.

Racca F et al. Pediatr Pulmonol 2011

16

CHRONIC RESPIRATORY FAILURE

Adapted from Amin RS, 2003

Chronic Respiratory Failure

IFailure of central

control of breathing

IIPump Failure

IIILung Failure

Respiratory MusclesChest wall Airway Parenchyma

Large Airway Small Airway

IntrathoracicExtrathoracic

17

PHYSIOPATHOLOGY OF RESPIRATORY FAILURE

Respiratory loadCystic fibrosis

COPDUpper airway obstruction

Respiratory muscles capacity

Neuromuscular disorders

Alveolar hypoventilation PaO2 and PaCO2

Ventilatory driveOndine’s course

Adapted from Fauroux B. Expert Rev Resp Med 4(1), (2010)

18

MECHANICAL VENTILATION UNLOADS THE RESPIRATORY MUSCLES

Respiratory load Respiratory muscles

Mechanical ventilation

Adapted from Fauroux B. Expert Rev Resp Med 4(1),(2010)

Ventilatory drive

19

MECHANICAL VENTILATION

CPAP: Continuous Positive Airway Pressure

Ventilation Volume Targeted

Ventilation Pressure Targeted

Bi - level PAP

Bi – level PAP: Bi - level Positive Airway Pressure

CPAP

PSV PCV

PSV: Pressure Support Ventilation

PCV: Pressure Control Ventilation

Hybrid Ventilation

SIMVACV

20

Sleep studies frequently lead to changes in respiratory support in childrenEunicia Tan, Gillian M Nixon and Elizabeth A EdwardsJournal of Paediatrics and Child Health 43 (2007) 560–563

Interventions in the paediatric sleep laboratory: The use and titration of respiratory support therapiesKaren WatersPAEDIATRIC RESPIRATORY REVIEWS (2008) 9, 181–192

Baseline After NPPV adjustment

Res

pira

tory

eve

nts

/ h

0

100

200

300

400

500

600

700

ASULDV

21

Invasive Home Ventilation

in UTAH

Acta Paediatr Jpn. 1996

BTJ 1999

SWISS MED WKLY

2001

Pediatric Pulmonology 2003

Eur Respir J 1995 Paediatr Child Health 1996

NATIONAL SURVEYES

REGARDING LONG TERM

VENTILATION OF CHILDREN

Courtesy F. Racca

22

UK survey 1998 - 2008

Wallis C, Paton JY, Beaton S, Jardine E (2011) Children on long-term ventilatory support: 10 years of progress. Arch Dis Child 96:998–1002

23

UK survey 1998 - 2008


24

UK survey 1998 - 2008


25

French Survey 2000 (only NIV – 102 pts)

Modified by: Fauroux B, Boffa C, Desguerre I, Estournet B, Trang H (2003) Long-term noninvasive mechanical ventilation for children at home: a national survey. Pediatric Pulmonol 35:119–125

26

Italian survey 2007 data on 378/535 pts

Racca F, Berta G, Sequi M, Bignamini E, Capello E, Cutrera R, Ottonello G,Ranieri VM, Salvo I, Testa R, Wolfler A, Bonati M (2011) Long-term homeventilation of children in Italy: a national survey. Pediatr Pulmonol 46:566–572

Centers responding only to the1 brief postal questionnaire

Centers providing detailed patient informations, responding also to the 2°questionnaire

tracheotomy

NIV

59.5% 40.5%

Courtesy F. Racca

27

DiagnosisN° of

patients (%)

Tracheotomy number (%)

Neuro-Muscular Disease

187 (49.5%)

73 (39%)

Cerebral palsy 52 (13.7%) 35 (67%)

Upper Airway Disorders 45(12%) 1 (2.2%)

Congenital CentralHypoventilation

Syndrome44 (11.6%) 25 (56.8%)

Spinal cord injury 13 (3.4%) 12 (92.3%)

Chest Wall Deformity 16 (4.2%) 4 (25%)

Chronic Lung Diseases 20 (5.3%) 11 (55%)

Other disorders1 neurofibromatosis 1 (0.3%) 1 (100%)

Racca F, Berta G, Sequi M, Bignamini E, Capello E, Cutrera R, Ottonello G, Ranieri VM, Salvo I, Testa R, Wolfler A, Bonati M (2011) Long-term home ventilation of children in Italy: a national survey. Pediatr Pulmonol 46:566–572

Courtesy F. Racca28

197 children

Department of Pediatric Intensive Care, VU Medical Center, Amsterdam, The Netherlands.

29

Paulides et al. Intensive Care Med 2012;38:847

30

Arch Dis Childh 2013;98:660

Prevalence 1995-2009 Vancouver - 15 yrs

31

CASE 1: DAVID

19 yrs old boy with Duchenne Muscular Dystrophy (DMD) presenting with recurrent episodes of nocturnal desaturation and hypercapnia

Personal History

• Diagnosis at 3 yrs of age, loss of deambulation at 11 yrs• Progressive difficult oral feeding (difficulty finishing a full meal), weight loss gastrostomy (2012) • On-going problems: severe scoliosis, osteoporosis, dilated cardiomyopathy, depression• A nocturnal non-invasive ventilation (NIV) therapy was discussed in a different hospital since 2011 but never started

Clinical presentation at visit

• Fair general conditions, severe scoliosis, normal chest auscultation• ABG: pH 7.38, paCO2 46.5, paO2 36.2

• LFT: VC 0.27 L (6%), PCF 42.6 L/m

32

Nocturnal sleep study

What would you do?

PARAMETERS CO2 VALUES

Time (h.min) 10.13

PetCO2 min (mmHg) 20

PetCO2 max (mmHg) 77

PetCO2 mean (mmHg) 60

PARAMETERS SaO2 VALUES

Time (h.min) 10.13

SaO2 mean (%) 92.9

SaO2 min (%) 63

SaO2 <90% (% time) 17.4

Pulse rate (mean value bpm) 92

ODI10 (Des episodes >10sec) 4.8

ODI0 (Des episodes/h) 5.0

33

DMD

• is a recessive X-linked form of muscolar dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual death

• caused by a mutation in the dystrophin gene, the largest gene located on the human X chromosome, which codes for the protein dystrophin

Main symptoms:- awkward manner of walking, stepping, or running, frequent falls, fatigue, increased lumbar lordosis- eventual loss of ability to walk (usually by the age of 12)- skeletal deformities (including scoliosis)- respiratory problems (hypoxemia, hypercapnia)- higher risk of neurobehavioral disorders, learning disorders (dyslexia)

34

IMPACT OF NASAL VENTILATION ON SURVIVALIN HYPERCAPNIC DMD

Thorax 1998:53:949-52

All patients tollerated nasal ventilationand none requested to discontinue therapy

Kaplan-Meier analysis

35


Thorax 1998:53:949-52

Arterial Po2 and Pco2 by the time of discharge improved significantly on NIPPV

These improvements were sustained over time

36


Thorax 1998:53:949-52

Arterial Po2 and Pco2 by the time of discharge improved significantly on NIPPV

These improvements were sustained over time

In conclusion: nasal ventilation is likely to increase survival in hypercapnic patients with DMD and should be considered as a

treatment option when ventilatory failure develops

37

p<0.001 before and after 1992

HIGHER SURVIVAL RATE

Complications are minor and include nasal bridge sores and gastric distensionSimonds AK et al. Eur Respir J. 2002

38

The Respiratory Management of Patients With Duchenne Muscular Dystrophy: A DMD Care Considerations Working Group Specialty Article. David J. Birnkrant et al. Pediatric Pulmonology 45:739–748 (2010)

adapted from Bushby et al. Lancet 2010 39

RESPIRATORY INTERVENTIONS IN DMD

adapted from Bushby et al. Lancet Neurol 2010 40

PARAMETERS CO2 VALUES (NO vent)

NIV

Time (h.min) 5.0 5.5

PetCO2 min (mmHg) 39 38

PetCO2 max (mmHg) 62 54

PetCO2 mean (mmHg) 51 48

PetCO2 >50 mmHg (% time) 69 2.9

PARAMETERS SaO2 VALUES (NO vent)

NIV

Time (h.min) 5.0 5.5

SaO2 mean (%) 97 98

SaO2 min (%) 82 92

SaO2 <90% (% time) 1.7 0

Pulse rate (mean value bpm) 81 81

ODI10 (>10sec)/h 4.4 1.4

ODI0 /h 4.4 1.4

Ventilation start

PSV S/T, IPAP 12 cmH2O, EPAP 4 cmH2O, FR 12 br/min, vol 200 ml

41

Ventilation setting was slightly changed

PSV S/T, IPAP 12 cmH2O, EPAP 4 cmH2O, FR 12 atti/min, vol 200 ml

PSV S/T, IPAP 14 cmH2O, EPAP 4.5 cmH2O, FR 16 atti/min, vol 200 ml


Time (h.min) 2.5




PetCO2 >50 mmHg (% time) 2.9


Time (h.min) 7.0




CASE 2: GIULIA MARIA, 3 yrs old girl

3 years old girl admitted in IRCU due to chronic respiratory failure, referred from another hospital of Southern part of Italy

Personal History

• In the last 6 months sudden and severe weight gain resulting insevere obesity, non associated to hyperfagia• Occurence of divergent walleye at right eye• Behaviour disorders, including uncaused fears, pavor nocturnus, problems at school• Following an episode of diarrhea, occurence of sleep apneas and lost consciousness diagnosticated as viral encephalitis• On-going problems: necessity of oxygen therapy


• Severe general conditions, obesity, light dyspnea and polypnea• EGA: pH 7.29, PaO2 54.2 mmHg, PaCO2 78.5 mmHg

43

ROHHAD SYNDROME

• Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare disease affecting approximately only 76 cases worldwide. Patients with ROHHAD have damage to the mechanism governing proper breathing. ROHHAD syndrome is a disease that is potentially lethal and incurable

• Differently from CCHS, a genetic mutation is not identified yet

Main symptoms:- hyperphagia and obesity by age of 10 years - (median age 3 years)-respiratory problems (hypoventilation, hypercarbia, OSAS)-thermal or other hypothalamic dysregulations- neurobehavioral disorders- tumors of neural crest origin

Currently there are no official tests or treatments for ROHHAD. Many children are misdiagnosed or are never diagnosed until alveolar hypoventilation occurs.

44

Phenotypic features of ROHHAD (15 children) A, onset of hypothalamic clinical findings; B, onset of

hypothalamic laboratory findings; C, onset of autonomic symptoms; D, onset of respiratory symptoms.

Ize-Ludlow D et al. Pediatrics 2007; 120: e179-188

©2007 by American Academy of Pediatrics 45

PARAMETERS CO2 VALUESTime (h.min) 5.13

PtcCO2 mean (mmHg)

51

PtcCO2max (mmHg) 57%TST with PtcCO2> 50 mmHg( %)

68

PARAMETERS SaO2 VALUES

Time (h.min) 05.13

SaO2 mean (%) 93

SaO2 min (%) 74

SaO2 <90% (% time) 7.2

Pulse rate (mean value bpm)

82

MOHAI/h 7.4

Central Apnea Index/h

2.0

G.M 3 yrs F – ROHHAD Nocturnal sleep study (O2 1L/m)

46

PARAMETERS CO2 VALUES (O2) NIV

Time (h.min) 5.0 6.50

PtcCO2mean (mmHg) 51 40

PtcCO2max (mmHg) 57 52

%TST with PtcCO2> 50 mmHg (%)

68 5

PARAMETERS SaO2 VALUES (O2 ) NIV

Time (h.min) 5.13 6.50

SaO2 mean (%) 93 96

SaO2 min (%) 74 88

SaO2 <90% (% time) 7.2 0.1

Pulse rate (mean value bpm) 82 89

MOHAI/h 7.4 0.3

Central Apnea Index/h 2.0 0

Ventilation start

PSV S/T, IPAP 16 cmH2O, EPAP 6 cmH2O, FR 20 br/min, I:E 1:2 FiO2 21%

47

CASE 3: V.A. 3 yrs old boy, PWS

• Developmental delay, hypotonia, Adeno – Tonsillar Hypertrophy (ATH)

• GH replacement started on December 2006 (12 months old)

• Heavy snoring

• Laboured breaths during sleep

• witnessed apneas

• restless sleep

• recurrent awakenings from sleep

48

PWS

• Prader-Willi syndrome (PWS) is a congenital condition caused by a genetic defect involving the paternal chromosome 15.

• A microdeletion of the long arm of chromosome 15 (15q 11–q13), or a maternal uniparental disomy, was demonstrated in approximately 70% and in 28% of cases, respectively.

• PWS is clinically characterized by neonatal hypotonia, failure to thrive, early childhood obesity, characteristic facial appearance, small hands and feet, hypogonadism, several central nervous system abnormalities, mild mental retardation, short stature, and behavioral disorders (e.g., hyperphagia).

• Hypothalamic dysfunction was considered for the clinical manifestation. Hypotonia and obesity are considered important risk factors for developing sleep-disordered breathing (SDB) in PWS.

http://www.proprofs.com/flashcards/cardshowall.php?title=genetic-diseases_1

http://scfscience2011.wikispaces.com/Prader-Willi+Syndrome

49

Nocturnal pulse-oximetry

7 clusters of desaturation

Many desaturations below 80%

Very High Pulse Rate Variability

50

McGill Oximetry Score

DOI: 10.1542/peds.113.1.e19 2004;113;e19-e25 Pediatrics

A. Brown and Robert T. Brouillette Gillian M. Nixon, Andrea S. Kermack, G. Michael Davis, John J. Manoukian, Karen

Role of Overnight OximetryPlanning Adenotonsillectomy in Children With Obstructive Sleep Apnea: The

McGill Oximetry Score 4

Adenotonsillectomy within days

51

NOCTURNAL PULSE OXIMETRY: RESULTS

Parameters Measures Unit Values

Total Effective recording Time (TERT)

hrs 10.2

Mean SpO2 % 92.8

Lowest SpO2 % 33

SpO2 <90% % TERT 9.6

Mean Pulse Rate bpm 117

ODI4 (N. of des/hrs) 16.2

McGill Oximetry Score Category 4

Let’s go to Polygraphy

52

Total Sleep Time (TST h:min): 07:59

SaO2 mean (%) 97

SaO2 nadir (%) 48

SaO2 < 90% (% TST) 3.2

ODI (N°des/hrs) 14.9

Mean Heart Rate (bpm) 112

MOAHI (N°/hrs) 24.7

Central Apneas Index (N°/hrs) 0.0

PtcCO2 mean (mmHg) 38.4

PtcCO2 peak (mmHg) 41

PtcCO2 minimum (mmHg) 32

Parameters Values

V.A. 3 yrs old boy, PWS, polygraphy 1st study

Diagnosis: Severe Obstructive Sleep Apneas53

OSA MANAGEMENT 1

ENT evaluation

Investigation Results

ATH (3th degree)

First Level investigations:

Lateral neck x-ray

Cardiologic evaluation

Sleep endoscopySecond Level investigations:

54

OSA MANAGEMENT 3

Terapeutic Intervention Tonsillectomy and Adenoidectomy

Stop GH replacement

55

Longitudinal Association between Growth Hormone Therapy and Obstructive Sleep Apnea in a Child with Prader-Willi SyndromeGillian M. Nixon, Christine P. Rodda, and Margot J. DaveyJ Clin Endocrinol Metab, January 2011, 96(1):29 –33

56

TONSILLECTOMY and ADENOIDECTOMY IN PWS?Adenotonsillectomy for Obstructive Sleep Apnea in Children With Prader-Willi SyndromeM. Pavone, MD, M.G. Paglietti, MD, A. Petrone, MD, A. Crino` , MD, G.C. De Vincentiis, MD, and Renato Cutrera, MD, PhD

Pediatric Pulmonology 41:74–79 (2006)

57

PSG POST SURGERY

Total Sleep Time (TST h:min: 06:42

SaO2 mean (%) 97

SaO2 nadir (%) 89

SaO2 < 90% (% TST) 0.1

Oxygen Desaturation Index (N°des/hrs) 0.4


MOAHI (N°/hrs) 1.7


PtcPCO2 mean (mmHg) 39.4

PtcPCO2 peak (mmHg) 45

PtcPCO2 minimum (mmHg) 33

Parameters Values

Diagnosis: Mild Obstructive Sleep Apneas58

OSA MANAGEMENT 4

Restart with GH replacement

Follow-up plan

59

Age 5.2 years

Weight Kg 31.100 (>97 centile)

Height cm 108.6 (50 – 75 centile)

BMI 26.35 kg/m2

GH replacement

New Admission Feb 2011


SaO2 mean (%) 98

SaO2 nadir (%) 80

SaO2 < 90% (% TST) 0.5

ODI (N.des/hrs) 13.4


MOAHI (N°/hrs) 19.7


PtcCO2 mean (mmHg) 42



Parameters Values

Diagnosis: Severe Obstructive Sleep Apneas

No significant adenoids tissue

60

OSA MANAGEMENT 6

Therapeutic Intervention Positive Pressure Ventilation

61


SaO2 mean (%) 98

SaO2 nadir (%) 95

SaO2 < 90% (% TST) 0.0

ODI (N.des/hrs) 0.0


MOAHI (N°/hrs) 0.0


PtcCO2 mean (mmHg) 40



Parameters Values

Nasal CPAP:refused

BiLevel PAP:accepted after a training period

PSG DURING NIV PSV ST IPAP 12, EPAP 4, FR 20

Diagnosis: No Apneas

62

When should an obese child be referred to a pulmonologist?Deane S e Thomson A. Arch. Dis. Child 2006;91:188-191)

[email protected]

CASE 4: 17 YRS OLD BOY, CF

• AG 17 years old, male, Cystic Fibrosis• Genetical diagnosis at 6 years old

• Patient was in O2 therapy with 2.5Lt/min• Arterial Blood gas :

pH 7.40, PaO2 94.2 mmHg, PaCO2 49 mmHg • FEV1: 35 % pred

Personal History


65

CYSTIC FIBROSIS

• Cystic fibrosis (CF) is the most common life-threatening autosomal recessively inherited disease in Caucasian populations, with a carrier rate of 1 in 25 and an incidence of 1 in 2,500 live births (CF Foundation 2006).

• Although this is a multisystem disease, the primary cause of death in CF is respiratory failure

• In CF, severe airway obstruction and inflammatory bronchiectatic processes results in sputumretention, an increase inbreathlessness, hyperinflation, ventilation perfusionmismatch, a decrease in res-piratorymuscle strength, and an inability tomaintain arterial oxy-genation within normal limits.

66

Patient during the night was in O2 therapy with 3.0Lt/min

SpO2 is normal due to O2 therapy

tcPCO2 increase during sleep respect to ABG

tcPCO2 mean 59mmHg

%time >50 mmHg 49%

Sleep Study

67

• Non-invasive ventilation may be beneficial in acute respiratory failure in CF and could have a role to play in the management of chronicrespiratory failure by acting as a bridge to transplantation as it may reverse or stabilize hypercapnia and hypoxaemia by improving alveolar ventilation, reducing respiratory muscle fatigue, or both (Hodson 1991; Piper 1992; Yankaskas 1999).

• While the addition of nocturnal oxygen improves hypoxemia and may have favorable effects on cor pulmonale, it has not been shown to affect the progression of disease in CF (Zinman 1989).

• There is also some evidence that the use of oxygen therapy may be at the expense of worsening hypercapnia (Gozal 1997; Milross 2001). The use of NIV has been proposed as a means to temporarily reverse this process by assisting nocturnal ventilation

Non–Invasive ventilation for cystic fibrosis

69

NIPPVNIPPV with O2 supplementation 0.5Lt/minPSV ST IPAP 14 cm H2O, EPAP 4 cm H2O, FR 18

PtcCO2 reduced during sleep

tcPCO2 mean 46 mmHg%time >50 mmHg 9%

Minimal O2 supplementation

70

O2 therapy and NPPV SaO2 O2 therapy PtcCO2 and NPPV PtcCO2

71

Indices of oxygenation were significantly lower during chest physiotherapy than during NIV, *SpO2mean MD 1.00 (95% CI 0.29 to 1.71)

72

CASE 5: ARIANNA, 12 months old, F, SMA1

12 months old infant with type 1 spinal muscular atrophy presenting with recurrent episodes of desaturation

Personal History

At the age of 2 months onset of progressive hypotonia, muscle weakness and delayed motor development At the age of 4 months diagnosis of Spinal Muscular Atrophy (SMA) confirmed with a DNA blood test.

At the age of 5 months insertion of percutaneous endoscopic gastrostomy (PEG) under local anaesthesia (progressive difficulty in oral feeding - finishing a full meal, weight loss)

73

SPINAL MUSCULAR ATROPHY (SMA)

Spinal cord motor neurons disease resulting in progressive muscular atropy and weakness. (1:6.000 – 1:10.000)

Recessive autosomic inherited disease: 1/ 50 is a healthy carrier of the gene

Gene SMN identified on the long arm of chromosome 5 in the region 5q13, exon 7-8 “Survival Motoneurons Protein”.

74

SMA 1 Non sittersSMA 1 SMA 1 Non sittersNon sitters

Type I: is never sitting, 50% mortality at 7ms, 100% at 2-yrs of age

Type II: sitting position, never walk, respiratory failure in childhood

Type III: temporarily able to walk, With intervals of 0.1

Type IV : adulthood

Spinal Muscular Atrophy (SMA)

SMA 2SittersSMA 2SMA 2SittersSitters

The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weaknessSMA clinically divided into:

75

Consequences of respiratory muscle weaknessineffective coughwork of breathing, presence of paradoxical (diaphragmatic)

breathing evolution of chest deformityMain symptomsrespiratory problems (pneumoniae, hypoxemia,

hypercapnia)skeletal deformities (including scoliosis)swallow problems -> (aspirations)

Clinical featuresprofound hypotonia, muscle weakness and delayed motor developmentnever achieve independent sitting, poor head control, intercostal muscle weakness.

Respiratory managementMonitoring cardio respiratory parameters, airway clearance with cough assist, secretions suctions procedures, postural drainage, nocturnal non invasive ventilation .

SMA 1

76

TREATMENT OPTIONS SUGGESTED TO PARENTS OF CHILDREN WITH SMA TYPE 1

1. Let the Nature “take its course”: Home discharge without mechanical ventilation but with support for feeding and treatment for pain and dyspnoea and education to prevent and treat acute respiratory deterioration + MI-E

2. Home discharge with 1 + low span mechanical IPPV + MI-E3. Home discharge with 1 +High span IPPV MI-E4. Tracheal ventilation

77

A retrospective chart review of 194 SMA 1 (103 males, 91 females) patients’ outcomes has been carried out:

1. letting nature take its course (NT) 121 (62.3%),

2. tracheostomy and invasive mechanical ventilation (TV) 42 (21.7%)

3. continuous noninvasive respiratory muscles aid (NRA) including non invasive ventilation (NIV) and mechanical assisted cough (MAC) 42 (21.7%)

80

BASELINE SLEEP STUDY

Parameters Values

Total Sleep Time (TST: hrs) 6.7

Mean SpO2 (%) 96.2

SpO2 nadir (%) 87

SpO2 < 90% (%TST) 0.1

DI (N° des/hrs) 2.3

AHI (N° apneas-hypopneas/hrs) 1.8

Mean tcpCO2 (mmHg) 46.9

Peak tcpCO2 (mmHg) 56

tcpCO2 > 50 mmHg (%TST) 32


81

Bush A,, et al. Respiratory management of the infant with type 1 spinal muscular

atrophy . Arch Dis Child. 2005;90:709-711.

82

Non Invasive Ventilation

Parameters Values

Total Sleep Time (TST: hrs) 6.1

Mean SpO2 (%) 97.8

SpO2 nadir (%) 90

SpO2 < 90% (%TST) 0.0

DI (N° des/hrs) 0.7

AHI (N° apneas-hypopneas/hrs) 0.2

Mean tcpCO2 (mmHg) 42.4

Peak tcpCO2 (mmHg) 49

tcpCO2 > 50 mmHg (%TST) 0

Sleep Study


83

DISCHARGE PLANE

Mechanical assisted coughThe use of a mechanical insufflator/exsufflator via a face mask increases peak cough flow and aids airway clearance Other techniques such as breath stacking with bag, mask and one-way valve and manually assisted coughs can be very useful in older children who are able to understand commands but are not applicable to infants with severe type 1 SMA

Oxygen - Home SpO2 monitoringLow-flow home oxygen should be considered for symptom relief in case of acute cyanotic attacks. However, practitioners should be aware that oxygen may mask worsening hypoventilation in the presence of hypercapnia by reducing respiratory drive.

Non-invasive ventilation (NIV)Non-invasive ventilation delivered via a mask attached with straps to the child's face “interface” as bi-level cycling between a higher and lower positive pressure to the follows setting ( PSV S/T, IPAP 16 cmH20, EPAP 4 cmH2O, Back up rate 25 breath/min)In this case the use of NIV can have a beneficial impact on chest shape, reducing the development of pectus excavatum

Enteral feeding

Nex visit scheduled in one month .


84

after 20 days ……… Respiratory exacerbation

Emergency Department In the last two days :

fever Increased secretions recurrent Hypoxemia below 80% SaO2,

despite management reccomandations

Clinical presentation:Instable clinic conditionsCounsciousPaleProfuse sweatingContinuous NIV with marked patient/ ventilator asynchrony

Oxygen supplementation ( FiO2 40%)

Sp02 87% - 90% ABG: pH 7.31; pCO2 66.5 mmHgChest X Ray: left lung consolidation


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Pediatric Intensive Care Unit

Mechanical Invasive Ventilation (SIMV/PSV FiO2 0,35)

Airway clearanceAntibiotic iv therapy

Progressive clinical and chest X ray findings improvement

ABG: pH 7.4; pCO2 43 mmHgSa02 96%

No more oxygen supplementation needwhat is the best ventilatory option if the child become 24 hours a day dependent on mechanical ventilation?

Long term mechanical ventilation


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Respiratory Support in Spinal Muscular Atrophy Type I: A Survey ofPhysician Practices and AttitudesM. Kathleen Moynihan Hardart, MD; Jeffrey P. Burns, MD, MPH; and Robert D. Truog, MD Pediatrics 2002;110(2).

SMA type I is a fatal condition and NIMV during a respiratory illness just prolongs an inevitable death as a result of respiratory failure.

Intubation is an ethycally necessary intervention for a child with SMA type I in the setting of a respiratory infection.

Tracheostomy is a reasonable intervention for a child with SMA type I and respiratory failure.

42

2

62

0 50 100

Intensivists

Physiatrists

Neurologists

7

15

13

0 10 20

Intensivists

Physiatrists

Neurologists

44

71

38

0 50 100

Intensivists

Physiatrists

Neurologists

Agree (%) Agree (%)Agree (%)

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Clinical History: Relevant points

After two unsuccessful extubations Tracheostomy was performed as the only long term ventilatory option

Setting: PACV IPAP 16 cmH2O, EPAP 4 cmH2O, 35 breath/min, I/E 1/2, trigger 8, VT 50 ml.


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SMA1 - 69 pts (2002-2014)

-

- 69 pts (31 M ; 38 F)- 53 dead (some of theme palliative NIV)- 16 alive:- 12 invasive ventilation (tracheo)- 3 in therapeutic NIV: 1. VC, F, 2ys and 5 ms, diagnosis at 10 ms, NIV at18 ms. 2. RG, M, 23 ms, diagnosis and NIV at 4 ms 3. QR, M, 31 ms, diagnosi and NIV at 5 ms - 1 new diagnosis at 6 ms in palliative NIV

Average age at diagnosis 4 monthsAverage age at death 11.5 monthsAverage age at tracheotomy 11.6 months

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SMA2 - 55 pts (2002-2014)

- 55 pts (29 M ; 26 F)- 49 alive:36 in therapeutic NIV1 invasive ventilation (tracheo)12 spontaneous breathing

-2 dead:case1 NIV at 24 mts, death at 42 mts; case2 NIV at 5yrs, death at 20 yrs

- 4 lost at follow up

Average age at diagnosis 17 monthsAverage age at NIV 5 yrs

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Conclusions

• Pediatric Long Term Ventilation is increasing in all surveys

• NIPPV is the more used type of ventilation• Neuromuscular diseases patients are the more

frequent group• European systematic data collection is missing• International Guidelines for PLTV are not yet

available• Ethical dilemma are still open in some more severe

patients

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Faculty disclosures Prof. Renato Cutrera has contributed to ResMed ventilator, Air Liquide NIV mask and Dima Italia cough assistant machine study.

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Answers to evaluation questions

Please find all correct answers in bold below 1. In cystic fibrosis non invasive ventilation can produce:

a. may reverse or stabilize hypercapnia and hypoxemia by improving alveolar ventilation, reducing respiratory muscle fatigue, or both.

b. the addition of nocturnal oxygen improves hypoxemia and may have favorable effects on pulmonary heart disease.

c. PSV performed with a nasal mask during the chest physiotherapy is associated with an improvement in respiratory muscle performance and with a reduction in oxygen desaturation.

d. all the previous. 2. In a neuromuscular patient, non-invasively ventilated which is the best choice of interface to

prescribe at home: a. full-face mask b. oronasal mask c. nasal mask d. none of the previous

3. Which is the suggested modality of non invasive ventilation for a type 1 SMA patient?

a. Non-invasive low- span pressure support ventilation b. Non-invasive high span pressure assisted/controlled ventilation c. Non-invasive negative pressure ventilation d. Non-invasive high - span pressure support ventilation

4. What does it mean ROHHAD?

a. Rapid Obesity Hyperphagia Hypothalamic Autonomic Disorder b. Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic

Dysregulation c. It’s an Ondine’s syndrome synonymous d. None of the above

5. Which of these factors favors the development of sleep-disordered breathing in patients with

Preder-Willi syndrome? a. Obesity b. Hypotonia c. Altered ventilatory response to the hypoxemic and hypercapnic stimulus d. All the previous

6. Which is the most frequent type of ventilation in CCHS?

a. Positive pressure A/C ventilation via tracheostomy b. Bi-level positive airway pressure via nasal or face mask c. Negative pressure ventilation d. Diaphragmatic pacing

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