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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
[email protected]. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
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
Pediatric Hospital Bambino Gesù
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
R. Cutrera, 2016 - [email protected]
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 96:998–1002
R. Cutrera 2016 - [email protected]
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
UK survey 1998 to 2008
R. Cutrera 2016 - [email protected]
Esperienza OPBG Roma Pazienti in Ventilazione Meccanica
U.O.C. Broncopneumologia398 pazienti: distribuzione per fasce di età d’inizio della ventilazione
Esperienza OPBG Roma
U.O.C. Broncopneumologia
Incremento Della ventilazione Meccanica Non Invasiva
(2000-2015)VMI: ventilazione meccanica invasiva
NIV: Ventilazione non invasiva
Esperienza OPBG Roma
Pazienti in Ventilazione a lungo termine
U.O.C. Broncopneumologia
Classificazioni delle principali Patologie
Esperienza OPBG Roma
Pazienti in Ventilazione a lungo tempo
U.O.C. Broncopneumologia
Pazienti Neuromuscolari in NIV
U.O.C. Broncopneumologia OPBG Roma 398 pazienti in Ventilazione Meccanica - Follow up
207
7
12
9
13
54353
5
26
12
4
11
1
Components of neuromuscular respiratory failure.
Joshua O. Benditt Pediatrics 2009;123:S236-S238
©2009 by American Academy of PediatricsR. Cutrera 2016 - [email protected]
Respiratory Failure Progression in NMDs patients
JO Benditt, PEDIATRICS Volume 123, Supp 4, 2009
Chest and Spine Deformities
Increased secretionsRestrictive Syndrome
Pump FailureMacro and Micro atelectasiesImpaired Thoracic Mechanics
Muscles weakness
Hypoventilation
R. Cutrera 2016 - [email protected]
Physiological Hypoventilation during Sleep
Sleep
Ventilatory drive Respiratory muscles Respiratory mechanics
↓ Central drive
↓ Chemoreceptor
sensitivity
Preservation of the
diaphragm
↓ intercostal muscles
↓ Upper airway muscles
V/Q mismatch
↑ Airflow resistance
↓ FRC
Fauroux B. Expert Rev Resp Med 4(1),(2010)
R. Cutrera 2016 - [email protected]
JO Benditt, PEDIATRICS Volume 123, Supp 4, 2009
Sleep RF (REM)Respiratory muscles atonyDiaphfragm weakness Upper airway muscles weakness (OSAS)Tachypnea
Respiratory Failure (RF) progression in NMDs patients
Sleep RF (NREM/REM)
Awake and Sleep RF
OSA (Obstructive Sleep Apnea)
CA (Central Sleep Apnea)
Hypoxemia Hypercapnia
Riduzione
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
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
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)
IMPACT OF NASAL VENTILATION ON SURVIVALIN HYPERCAPNIC DMD
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
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;60:1019–1024
R. Cutrera 2016 - [email protected]
Non-Invasive Ventilation Reduces Respiratory Tract Infections in Children With Neuromuscular DisordersC. Dohna-Schwake, P. Podlewski, MD, T. Voit, MD, and U. Mellies, Pediatric Pulmonology 43:67–71 (2008)
R. Cutrera 2016 - [email protected]
IMPACT OF NASAL VENTILATION ON SURVIVALIN HYPERCAPNIC DMD
Thorax 1998:53:949-52
All patients tollerated nasal ventilation
and none requested to discontinue therapy
Kaplan-Meier analysis
Fig. 1. Standardized overall DMD incidence and mortality rates, Denmark 1977–2001 (95% confidence limit (CL)). Incidence is
directly standardized after the total male population at risk 1977–2001. 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, 1977–2001: prevalence, incidence and survival in relation to
the introduction of ventilator use
Neuromuscular Disorders, Volume 13, Issue 10, 2003, 804–812
HIGHER SURVIVAL RATE
p<0.001 before and after 1992
R. Cutrera 2016 - [email protected]
Eagle M et Al. Managing DMD – The additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscular Disorders 17 (2007) 470-475
SURGERY, NIV AND
SURVIVAL
R. Cutrera 2016 - [email protected]
Preoperative training in and postoperative use of manual and assisted cough techniquesare necessary:- baseline peak cough flow is below 270 L/min- baseline maximum expiratory pressure is below 60 cmH2O
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.
DMD AND SURGERY
Katharine Bushby et Al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177–89
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
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
RESPIRATORY INTERVENTIONS IN DMD
adapted from Bushby et al. Lancet Neurol 2010
Interfaces for noninvasive mask ventilation.
Joshua O. Benditt Pediatrics 2009;123:S236-S238
©2009 by American Academy of PediatricsR. Cutrera 2016 - [email protected]
Example of ventilators with mouthpiece setup in place.
Joshua O. Benditt Pediatrics 2009;123:S236-S238
R. Cutrera 2016 - [email protected]
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)
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”.
R. Cutrera 2016 - [email protected]
SMA 1 Non 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 2Sitters
The clinical spectrum of SMA ranges from early infant death to normal
adult life with only mild weakness
SMA clinically divided into:
R. Cutrera 2016 - [email protected]
Consequences of respiratory muscle weaknessineffective cough
work of breathing, presence of paradoxical (diaphragmatic)
breathing
evolution of chest deformity
Main symptomsrespiratory problems (pneumoniae, hypoxemia,
hypercapnia)
skeletal deformities (including scoliosis)
swallow problems -> (aspirations)
Clinical features
profound hypotonia, muscle weakness and delayed motor
development
never 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
R. Cutrera 2016 - [email protected]
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
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
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%)
Sleep disordered breathing in spinal muscular atrophy Uwe Mellies et al. Neuromuscular Disorders 14 (2004) 797–803
R. Cutrera 2016 - [email protected]
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. 9. 2005
N=14. Età media
11.7+/- 11.4 mesi R. Cutrera 2016 - [email protected]
Noninvasive Ventilation in Children with Spinal Muscular Atrophy Types 1 and 2Albino Petrone, Martino Pavone, Maria B. Chiarini Testa, Francesca Petreschi, Enrico Bertini, Renato Cutrera, Am. J. Phys. Med. Rehabil. ● Vol. 86, No. 3. 2007
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
• Ospedalizzazioni 0.15 episodi/aa• MAC e high span NIV (IPAP fino a 25 cmH2O) -> SaO2>95%
R. Cutrera 2016 - [email protected]
Bush A,, et al. Respiratory management of the infant with type 1 spinal muscular
atrophy . Arch Dis Child. 2005;90:709-711.
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, 30–31 January 2015
Neuromuscular Disorders, Volume 25, Issue 12, 2015, 979–989
R. Cutrera 2016 - [email protected]
Italian Reccomendations 2015: SMA
V.A. Sansone, F. Racca, G. Ottonello, A. Vianello, A. Berardinelli, G. Crescimanno, J.L. Casiraghi
Neuromuscular Disorders, Volume 25, Issue 12, 2015, 979–989
1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement
in spinal muscular atrophy (SMA) types I–III, Rome, Italy, 30–31 January 2015
R. Cutrera 2016 - [email protected]
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, 30–31 January 2015
Neuromuscular Disorders, Volume 25, Issue 12, 2015, 979–989
R. Cutrera 2016 - [email protected]
AN OPEN-LABEL STUDY OF LMI070 IN TYPE 1 SPINAL MUSCULAR ATROPHYAn 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
SMA1 - 81 pts (2002-2016)
-
- 81 pts (37 M ; 44 F)
-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 12.54 ± 10.96 m.2 tracheo age 17.4 ; death age 48,8 ± 4.0 m.
R. Cutrera 2016 - [email protected]
SMA2 - 55 pts (2002-2016)
- 53 pts (30 M ; 23 F)
- 52 alive:mean age 166.117 ±187.95 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
R. Cutrera 2016 - [email protected]
R. Cutrera 2016 - [email protected]
• 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.
Performance & challenges of masks
Silent and diffuse vent systemTo fit into the peacful environment of the baby
5 points headgear To ensure homogenous bearing points and stability whatever the pressures or infant’s position
Flexible and 360° rotation tubingFor a totale sense of freedom
Soft & comfortable cushionWith a unique and thin lip to guarantee air
tighness and minimal pressure on the face
Respireo SOFT Baby
R. Cutrera 2016 - [email protected]
Case 1B.D.
Syndrome short ribs8 months Kg.6.900
c.c.47cm
Case 2S.J. SMA 1
4 months Kg.6.700 c.c.41cm
Case 3V.S. SMA 1
24 months Kg.6.190 c.c.50cm
R. Cutrera 2016 - [email protected]
Conclusions
NIV is indicated in pediatric neuromuscular patients(Increases survival, decreases respiratoryexhacerbations, improves gas exchanges and chestand spine deformities, sleep quality)NIV as part of protocols for surgery and extubations
Specific Guidelines
Personalized Follw up
R. Cutrera 2016 - [email protected]