NIV indications for children with rare diseases - JIVD - AER - … 14H… · · 2016-01-14NIV indications for children ... clearance of lower airway secretions 2. ... breathing

Renato Cutrera Dir. U.O.C. Broncopneumologie

Département de Médecine Pédiatrique Hôpital Bambino Gesù, IRCCS, Rome, Italie

R. Cutrera, 2015 -‐ [email protected] 1

NIV indications for children

with rare diseases


A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000

PECULIARITA’ DELLE MALATTIE RARE

[email protected] R. Cutrera, 2015 - [email protected] 3

In the EU 30 million people affected over 6000 rare diseases existing.

[email protected] R. Cutrera, 2015 - [email protected] 4

80% of rare diseases have identified genetic origins others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 50% of rare diseases touch children.

Respiratory and Sleep & LTV Unit Pediatric Hospital Bambino Gesù – Rome, italy

NIV (262 patients)

7%

3%

21%6% 6%

6%

14%

3%

10%24%Muscle Distrophy CFMiopaty severe obesityCerebral Palsy PWSSMA neuro metabolicOndine/Rohhad others

5 R. Cutrera, 2013 - [email protected]

CASE 1: 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 in severe 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

Clinical presentation at visit

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

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.

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

PARAMETERS CO2 VALUES

Time (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% (% ,me) 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)

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% (% ,me) 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%

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)

R. Cutrera, 2015 -‐ [email protected]

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”.


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

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

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

Ø Type IV : adulthood

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

Spinal Muscular Atrophy (SMA)

13


ü  Early involvement of respiratory muscles

ü  Paradox breathing ü  Bell-shaped chest

➼  Symptoms within 6 months of life

➼  Floppy, weak cry, foggy posture, tongue muscles fasciculation

➼  Eating disorders (impaired swallowing and GERD)

SMA type 1

14


Non sitters

Sitters

SMA1

SMA2

15


MUSCLE WEAKNESS EFFECTS

3. Lung under development

6. Hypoventilation (sleep awake) and Sleep Disordered Breathing

4. Impaired cough resulting in poor clearance of lower airway secretions

2. Chest wall deformity

5. Recurrent infections that exacerbate muscle weakness

1. Impaired swallowing and GERD

16

R. Cutrera, 2015 - [email protected]

CHEST WALL DEFORMITY

NORMAL SMA Bell-shaped chest

17


Impaired clearance of secretions

Impaired Cough (expiratory muscles weakness)

A. Simonds Neuromuscular Disorders 14 (2004)56-69

Stasis of thick secretions

Acute and chronic infectious complications

18


Ø  segmental Ø  lobar Ø  micro

Atelectasis

Infections

Hypoxemia

Decreased lung volumes Increased work of breathing Progressive alteration of ventilation perfusion ratio

19


Mimics the physiological cough: gradually applying at the airways a positive pressure and immediately after a negative pressure. Removes deep lung secretions Reduces the recurrence of respiratory infections and pulmonary atelectasis

IN EX SUFFLATOR EMERSON

COUGH ASSIST Nippy B&D

Cough Assist Device

COUGH ASSIST (Mini) Pegaso DIMA

COUGH ASSIST Philips E70

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Hypoventilation and SBD

Individuals tend to progress to daytime respiratory failure via a sequence of recurrent chest infections, nocturnal oxygen desaturation, nocturnal hypoventilation, and then daytime hypercarbia.

Baseline assessment and longitudinal monitoring can identify those at risk for sleep-disordered breathing and ineffective clearance of secretions.

Ventilatory support should be added at night if sleep-disordered breathing is present and cough assistance provided if cough efficiency is reduced.

21


Consensus Statement for Standard of Care in Spinal Muscular Atrophy Chang CH et al. J Child Neurol 2007 22: 1027

22


Assisted ventilation is used in children with NMW for the following reasons: Ø  To treat the symptoms of nocturnal hypoventilation. Ø  To treat the symptoms of daytime hypoventilation. Ø  To reduce the frequency of hospital admission for chest infections. Ø  To prevent chest wall deformity in young children with the expectation of improved long-term outcome. Ø  To prolong life.

ASSISTED VENTILATION

23

Sleep disordered breathing in spinal muscular atrophy Uwe Mellies et al. Neuromuscular Disorders 14 (2004) 797–803



Chiarini Testa MB, Pavone M, Bertini E, Petrone A, Pagani M, Cutrera R Am J Phys Med Rehabil 2005;84:666–670.

Sleep-disordered breathing in spinal muscular atrophy types 1 and 2

25



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


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

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


DISCHARGE PLANE

Mechanical assisted cough The 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 monitoring Low-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 .


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 conditions Counscious

Pale Profuse sweating Continuous NIV with marked patient/ ventilator asynchrony Oxygen supplementation ( FiO2 40%) Sp02 87% - 90% ABG: pH 7.31; pCO2 66.5 mmHg Chest X Ray: left lung consolidation


Pediatric Intensive Care Unit

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

Airway clearance Antibiotic iv therapy

Progressive clinical and chest X ray findings improvement

ABG: pH 7.4; pCO2 43 mmHg

Sa02 96% No more oxygen supplementation need

what is the best ventilatory option if the child become 24 hours a day dependent on mechanical ventilation?

Long term mechanical venXlaXon


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.




Spinal Muscular Atrophy Type 1: Management and Outcomes Bach JR, Baird S, Plosky D, Navado J, Weaver B

Pediatric Pulmonology 34:16–22 (2002)

36

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%)




NIV is ineffective and contraindicated in infants who have severe bulbar weakness, usually present in babies with severe type 1 SMA

The consensus of expert opinion is that once the diagnosis has been confirmed invasive ventilation is not appropriate for infants with severe type 1 SMA.

When professionals assess the resulting life for the child and family, they sometimes fear it will result in unreasonably excessive care. The aim of this article is to present an analysis of ethical arguments that could support or oppose the provision of invasive ventilation in this population. This examination is particularly relevant as France is one of the few countries performing tracheotomies and mechanical ventilation for this condition.

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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 months Average age at death 11.5 months Average age at tracheotomy 11.6 months


SMA2 - 55 pts (2002-2014)

-  55 pts (29 M ; 26 F) -  49 alive: 36 in therapeutic NIV 1 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 months Average age at NIV 5 yrs




Documents

NIV indications for children with rare diseases - JIVD - AER - … 14H… · · 2016-01-14NIV indications for children ... clearance of lower airway secretions 2. ... breathing