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1 Obrigada por ver esta apresentação Lembramos que esta apresentação é propriedade do autor É-lhe proporcionada pela Associação Portuguesa de Sono no contexto da Lufada 2016, para seu uso pessoal, tal como submetido pelo autor 2016 pelo autor

2 A doença neuromuscular (DNM) na criança e a VNI quando começar ou não, que interface, que ventilador? NMD children and NIV when or when not to begin, what interface and which ventilator? Dr. Renato Cutrera Head of Respiratory Unit Sleep & PLTV Lab. Academic Department of Pediatrics Bambino Gesù Childre s Hospital - Rome Italy renato.cutrera@opbg.net

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4 Pediatric Hospital Bambino Gesù Pediatric Intermediate Care Unit 21 beds in single rooms with a filtered area and a positive or negative pressure system All rooms are monitored at the two stations with audible and visual alarms 3 of these rooms are equipped with a full polysomnographic and sleep studies for critically ill patients

5 CHRONIC RESPIRATORY FAILURE Chronic Respiratory Failure III Lung Failure I Failure of central control of breathing II Pump Failure Chest wall Airway Parenchyma Respiratory Muscles Large Airway Small Airway Extrathoracic Intrathoracic Adapted from Amin RS, 2003 R. Cutrera, cutrera@opbg.net

6 UK survey 1998 to 2008 Wallis C, Paton JY, Beaton S, Jardine E (2011) Children on long-term ventilatory support: 10 years of progress. Arch Dis Child 96:

7 UK survey 1998 to 2008 Wallis C, Paton JY, Beaton S, Jardine E (2011) Children on long-term ventilatory support: 10 years of progress. Arch Dis Child 96:

8 Esperienza OPBG Roma Pazienti in Ventilazione Meccanica U.O.C. Broncopneumologia 398 pazienti: distribuzione per fasce di età d inizio della ventilazione

9 VMI: ventilazione meccanica invasiva Esperienza OPBG Roma U.O.C. Broncopneumologia Incremento Della ventilazione Meccanica Non Invasiva ( ) NIV: Ventilazione non invasiva

10 Esperienza OPBG Roma Pazienti in Ventilazione a lungo termine U.O.C. Broncopneumologia Classificazioni delle principali Patologie

11 Esperienza OPBG Roma Pazienti in Ventilazione a lungo tempo U.O.C. Broncopneumologia Pazienti Neuromuscolari in NIV

12 U.O.C. Broncopneumologia OPBG Roma 398 pazienti in Ventilazione Meccanica - Follow up

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14 Components of neuromuscular respiratory failure. Joshua O. Benditt Pediatrics 2009;123:S236-S by American Academy of Pediatrics

15 Respiratory Failure Progression in NMDs patients Chest and Spine Deformities Muscles weakness Increased secretions Restrictive Syndrome Pump Failure Macro and Micro atelectasies Impaired Thoracic Mechanics Hypoventilation JO Benditt, PEDIATRICS Volume 123, Supp 4, 2009

16 Physiological Hypoventilation during Sleep Sleep Ventilatory drive Respiratory muscles Respiratory mechanics Central drive Chemoreceptor sensitivity Preservation of the diaphragm intercostal muscles Upper airway muscles Fauroux B. Expert Rev Resp Med 4(1),(2010) V/Q mismatch Airflow resistance FRC

17 Respiratory Failure (RF) progression in NMDs patients Sleep RF (REM) Sleep RF (NREM/REM) Respiratory muscles atony Diaphfragm weakness Upper airway muscles weakness (OSAS) Tachypnea Riduzione OSA (Obstructive Sleep Apnea) Awake and Sleep RF Hypoxemia Hypercapnia CA (Central Sleep Apnea) JO Benditt, PEDIATRICS Volume 123, Supp 4, 2009

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19 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, pao LFT: VC 0.27 L (6%), PCF 42.6 L/m

20 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)

21 IMPACT OF NASAL VENTILATION ON SURVIVAL IN HYPERCAPNIC DMD Thorax 1998:53: Arterial Po 2 and Pco 2 by the time of discharge improved significantly on NIPPV 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 These improvements were sustained over time

22 Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia S Ward, M Chatwin, S Heather, A K Simonds Thorax 2005;60:

23 Non-Invasive Ventilation Reduces Respiratory Tract Infections in Children With Neuromuscular Disorders C. Dohna-Schwake, P. Podlewski, MD, T. Voit, MD, and U. Mellies, Pediatric Pulmonology 43:67 71 (2008)

24 IMPACT OF NASAL VENTILATION ON SURVIVAL IN HYPERCAPNIC DMD Thorax 1998:53: Kaplan-Meier analysis All patients tollerated nasal ventilation and none requested to discontinue therapy

25 HIGHER SURVIVAL RATE p<0.001 before and after 1992 Fig. 1. Standardized overall DMD incidence and mortality rates, Denmark (95% confidence limit (CL)). Incidence is directly standardized after the total male population at risk Mortality is directly standardized after the total DMD populati... J Jeppesen, A Green, B.F Steffensen, J Rahbek The Duchenne muscular dystrophy population in Denmark, : prevalence, incidence and survival in relation to the introduction of ventilator use Neuromuscular Disorders, Volume 13, Issue 10, 2003,

26 SURGERY, NIV AND SURVIVAL Eagle M et Al. Managing DMD The additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscular Disorders 17 (2007)

27 DMD AND SURGERY Preoperative training in and postoperative use of manual and assisted cough techniques are necessary: - baseline peak cough flow is below 270 L/min - baseline maximum expiratory pressure is below 60 cmh 2 O Preoperative training in and postoperative use of non-invasive ventilation is: - strongly recommended for patients with a baseline FVC < 50% predicted - necessary with a FVC < 30% predicted. Katharine Bushby et Al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9:

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29 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: (2010) adapted from Bushby et al. Lancet 2010

30 RESPIRATORY INTERVENTIONS IN DMD adapted from Bushby et al. Lancet Neurol 2010

31 Interfaces for noninvasive mask ventilation. Joshua O. Benditt Pediatrics 2009;123:S236-S by American Academy of Pediatrics

32 Example of ventilators with mouthpiece setup in place. Joshua O. Benditt Pediatrics 2009;123:S236-S238

33 CASE 2: 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)

34 SPINAL MUSCULAR ATROPHY (SMA) Spinal cord motor neurons disease weakness. (1: :10.000) resulting in progressive muscular atropy and 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.

35 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) The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness SMA clinically divided into: SMA 1 Non sitters SMA 2 Sitters

36 Clinical features profound hypotonia, muscle weakness and delayed motor development never achieve independent sitting, poor head control, intercostal muscle weakness. Consequences of respiratory muscle weakness ineffective cough work of breathing, presence of paradoxical (diaphragmatic) breathing evolution of chest deformity Main symptoms respiratory problems (pneumoniae, hypoxemia, hypercapnia) skeletal deformities (including scoliosis) swallow problems -> (aspirations) SMA 1 Respiratory management Monitoring cardio respiratory parameters, airway clearance with cough assist, secretions suctions procedures, postural drainage, nocturnal non invasive ventilation.

37 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-E 3. Home discharge with 1 +High span IPPV MI-E 4. Tracheal ventilation

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41 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%)

42 Sleep disordered breathing in spinal muscular atrophy Uwe Mellies et al. Neuromuscular Disorders 14 (2004)

43 Sleep-Disordered Breathing in Spinal Muscular Atrophy Types 1 and 2 Maria Beatrice Chiarini Testa et al. Am. J. Phys. Med. Rehabil. Vol. 84, No N=14. Età media 11.7+/ mesi

44 Noninvasive Ventilation in Children with Spinal Muscular Atrophy Types 1 and 2 Albino Petrone, Martino Pavone, Maria B. Chiarini Testa, Francesca Petreschi, Enrico Bertini, Renato Cutrera, Am. J. Phys. Med. Rehabil. Vol. 86, No

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46 Ospedalizzazioni 0.15 episodi/aa MAC e high span NIV (IPAP fino a 25 cmh 2 O) -> SaO2>95%

47 Bush A,, et al. Respiratory management of the infant with type 1 spinal muscular atrophy. Arch Dis Child. 2005;90:

48 Italian Reccomendations 2015: SMA V.A. Sansone, F. Racca, G. Ottonello, A. Vianello, A. Berardinelli, G. Crescimanno, J.L. Casiraghi 1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I III, Rome, Italy, January 2015 Neuromuscular Disorders, Volume 25, Issue 12, 2015,

49 Italian Reccomendations 2015: SMA V.A. Sansone, F. Racca, G. Ottonello, A. Vianello, A. Berardinelli, G. Crescimanno, J.L. Casiraghi 1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I III, Rome, Italy, January 2015 Neuromuscular Disorders, Volume 25, Issue 12, 2015,

50 Italian Reccomendations 2015: SMA V.A. Sansone, F. Racca, G. Ottonello, A. Vianello, A. Berardinelli, G. Crescimanno, J.L. Casiraghi 1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I III, Rome, Italy, January 2015 Neuromuscular Disorders, Volume 25, Issue 12, 2015,

51 AN OPEN-LABEL STUDY OF LMI070 IN TYPE 1 SPINAL MUSCULAR ATROPHY An open-label, multi-part, first-in-human study of oral LMI070 in infants with Type 1 spinal muscular atrophy. The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and efficacy after 13 weeks; and to estimate the Maximum Tolerated Dose (MTD) and optimal dosing regimen of orally administered LMI070 in patients with Type 1 SMA

52 - 81 pts (37 M ; 44 F) SMA1-81 pts ( ) -27 alive: - 16 invasive ventilation (tracheo age 15.4 mesi ± 14.0 m.; age: 101,5± 53.7 m.) - 10 in - NIV: (NIV starting age 7.7 ± 3.8 m.; age 33,7 ms ±17.2) - 1 no LTV only CAM ; age 7.6 mesi - 54 dead (some of them palliative NIV) 23 no LTV death age 7.9 ±4.2 m. 29 NIV starting age 6.32± 4.83 m.; death age ± m. 2 tracheo age 17.4 ; death age 48,8 ± 4.0 m.

53 SMA2-55 pts ( ) - 53 pts (30 M ; 23 F) - 52 alive:mean age ± m. 23 in therapeutic NIV 1 invasive ventilation (tracheo ) 26 spontaneous breathing -1 dead: case1 NIV at 19,07 mts, death at 36 mts; - 2 lost at follow up Average age at diagnosis 17 months Average age at NIV 56,56±46,41mts

54 Performance & challenges of masks Should be preferred a transparent model that allows the inspection of the nostrils and ensure that they are not partially or completely occluded by secretions or dislocations of the mask. The smaller the child is, the higher the risk is, as the size of his face fell, and even a slight displacement of the mask can interfere with the proper delivery of positive pressure to the airway. The masks should be positioned in order to determine the lowest possible pressure on the skin that is compatible with an effective ventilation.

55 Performance & challenges of masks Courtesy dr. G. Ottonello

56 Respireo SOFT Baby 5 points headgear To ensure homogenous bearing points and stability whatever the pressures or infant s position Soft & comfortable cushion With a unique and thin lip to guarantee air tighness and minimal pressure on the face Silent and diffuse vent system To fit into the peacful environment of the baby Flexible and 360 rotation tubing For a totale sense of freedom

57 Case 1 B.D. Syndrome short ribs 8 months Kg c.c.47cm Case 2 S.J. SMA 1 4 months Kg c.c.41cm Case 3 V.S. SMA 1 24 months Kg c.c.50cm

58 Case 4 V.L. SMA months Kg.10.0

59 Conclusions NIV is indicated in pediatric neuromuscular patients (Increases survival, decreases respiratory exhacerbations, improves gas exchanges and chest and spine deformities, sleep quality) NIV as part of protocols for surgery and extubations Specific Guidelines Personalized Follw up