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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]


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


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


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


Pazienti in Ventilazione a lungo termine


Classificazioni delle principali Patologie


Pazienti in Ventilazione a lungo tempo


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


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)


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



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

http://www.google.it/url?url=http://www.dixonindustries.it/Dixon/Items.aspx?SlaveCategoryID=31&rct=j&frm=1&q=&esrc=s&sa=U&ei=UTSXU4b7GuXe7Aak54GQBw&ved=0CCQQ9QEwAQ&sig2=O4I8wPK0ZDy-EM69sD3t1g&usg=AFQjCNHJZ1Wye8CJBRBYrgh42FRcn8iLGg

http://www.google.it/url?url=http://www.dixonindustries.it/Dixon/Items.aspx?SlaveCategoryID=31&rct=j&frm=1&q=&esrc=s&sa=U&ei=UTSXU4b7GuXe7Aak54GQBw&ved=0CCQQ9QEwAQ&sig2=O4I8wPK0ZDy-EM69sD3t1g&usg=AFQjCNHJZ1Wye8CJBRBYrgh42FRcn8iLGg

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


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)


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


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


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



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.


©2009 by American Academy of PediatricsR. Cutrera 2016 - [email protected]

Example of ventilators with mouthpiece setup in place.



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”.


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:


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


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




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


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



• Ospedalizzazioni 0.15 episodi/aa• MAC e high span NIV (IPAP fino a 25 cmH2O) -> SaO2>95%


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















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.


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



• 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


Courtesy dr. G. Ottonello

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


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



Case 4V.L. SMA 1.8

18 months Kg.10.0

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


Documents

© 2016 pelo autor€¦ · · 2016-06-24R. Cutrera 2016 - [email protected]. ... Increased secretions Restrictive Syndrome Pump Failure ... airway clearance with cough assist, secretions