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POINT: Is Noninvasive Ventilation Always the Most Appropriate Manner of Long-term Ventilation for Infants With Spinal Muscular Atrophy Type 1? Yes, Almost Always FREE TO VIEW

John R. Bach, MD
Author and Funding Information

FINANCIAL/NONFINANCIAL DISCLOSURES: None declared.

Department of Physical Medicine and Rehabilitation, Rutgers New Jersey Medical School, Newark, NJ

CORRESPONDENCE TO: John R. Bach, MD, Department of Physical Medicine and Rehabilitation, Rutgers New Jersey Medical School, University Hospital B-403, 150 Bergen St, Newark, NJ 07103


Copyright 2016, American College of Chest Physicians. All Rights Reserved.


Chest. 2017;151(5):962-965. doi:10.1016/j.chest.2016.11.043
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Published online

Spinal muscular atrophy (SMA) is an inherited disease of anterior horn cells. It varies in severity from type 1A (SMA1; or type 0), for which continuous noninvasive ventilatory support (CNVS) and enteral nutrition are required before 6 months of age (10% of cases); to typical, for which CNVS and enteral nutrition are needed by 18 months (75%) of age; to mild, when CNVS and enteral nutrition are subsequently needed (15%)., Without respiratory support, SMA1 has 50% mortality by 7 months of age and 90% by 1 year of age.

Parents and providers have several options available: they can let the infant die of respiratory failure; they can acquiesce to a tracheotomy, which is usually unnecessary; or they can use noninvasive ventilatory support (NVS) and mechanical insufflation-exsufflation (MIE).

Although there had been little hope for effective treatments, this outcome is no longer the case. The first improvements in strength using allogenic mesenchymal stem cells have been reported, and the first FDA approved medication that has remarkably increased the strength and function of small children with SMA type 1 was approved on December 23, 2016. Even without medications, however, we have 9 patients with SMA1 now aged > 20 years, several with milder type 1C severity who are now aged > 40 years, and a 27-year-old who has been reported to have married and to have given birth. All their parents had been told that these individuals would not survive infancy.

All children who have paradoxical breathing, including those with SMA1, require NVS during sleep at full ventilatory support settings to change chest wall paradoxical movements to chest wall expansion during inspiratory and thereby prevent pectus excavatum and other chest deformities (Fig 1). Most often the settings that accomplish this are pressure control/assist-control of 18 to 20 cm H2O. Because full support settings minimize the work of breathing and rest respiratory muscles without significant overventilation, in our experience, polysomnograms are unnecessary. Parents are trained in the clinic to have the child in synchrony with NVS by observing the chest and abdomen expanding during sleep. They initially wait for the child to fall asleep to place the nasal interface, then gradually introduce and increase the settings to 18 cm H2O. Within 1 week, most infants resist sleeping without NVS.

Figure 1
Figure Jump LinkFigure 1 Chest of child aged 1½ years with typical spinal muscular atrophy type 1 who did not benefit from sleep noninvasive ventilatory support.Grahic Jump Location

The key to long-term success is to institute sleep NVS from time of diagnosis and to extubate even “unweanable” children to it along with MIE. Conventional extubations to oxygen, CPAP, and/or low spans of bilevel positive airway pressure (ie, spans < 10-15 cm H2O) are successful 6% of the time compared with a success rate of 85% (147 of 173) for the 126 infants with SMA1 in our care extubated to CNVS and MIE. Only four of 126 underwent tracheotomy, three because their parents did not become adept at or could not be continuously present to use a manual resuscitator and MIE to return oxygen saturation to normal during episodes of airway mucus plugging, and one for failing three protocol extubation attempts.,,, We extubated many children after multiple failed extubations elsewhere.

The key to extubation success is to get the child in synchrony with the CNVS by adjusting the backup rate and sensitivity, having an airtight interface, and having parents apply MIE up to every 20 to 30 min as needed to clear secretions for 36 postextubation hours in the critical care unit. Sleeping children generally do not require MIE regardless of ambient air oxygen saturation levels. This approach makes parents adept at using NVS, CNVS, and MIE at the effective pressures of 50 to 60 cm H2O needed to maintain baseline oxygen saturation > 94% during respiratory infections to avoid future hospitalizations.,,,,,,,, For infants, MIE should either be timed to their breathing or the Cough-Trak mode of the CoughAssist T-70 (Respironics Inc) can be used for autotriggering. In our experience, SMA1 infants require an average of 0.7 intubation per year to their third birthday; intubations can switch to 0.3 per year from 3 to 5 years of age. When the child can cooperate with MIE, these can be decreased to < 0.05 per year, possibly lower than for those with tracheostomies.

Sleep NVS, but not polysomnographic titrations of low span “BiPAP,” reverses paradoxing and can result in the lungs of children with SMA1 who have 0 mL of vital capacity being able to receive > 2 L of air by adolescence (Figs 2, 3). In addition to preventing chest deformities (Fig 1), sleep NVS helps maintain pulmonary compliance and promotes growth. MIE via oronasal interfaces may facilitate this once cooperation with it becomes possible.

Figure 2
Figure Jump LinkFigure 2 Brothers ages 3 and 1 years with spinal muscular atrophy type 1 continuously dependent on noninvasive ventilatory support from 8 and 4 months of age, respectively, with well-formed chests.Grahic Jump Location
Figure 3
Figure Jump LinkFigure 3 The same brothers from Figure 2 at 20 and 18 years of age at the high school graduation of the younger brother, both with 0 mL of vital capacity for > 10 years and only residual eye movements.Grahic Jump Location

Although survival past 20 years of age is possible for these children with tracheostomies as well as by CNVS and MIE as needed, immediately following tracheotomy, children with typical SMA1 usually become and remain continuously dependent on tracheostomy ventilation, never develop speech, and may eventually die of tube-related complications. Of the 9 part-time NVS users in our care who underwent tracheotomy (eight when pressured by local out-of-state physicians, and one due to inadequate presence of adept home care providers), four of the eight died within 2 years of tracheotomy. Patients extubated to CNVS and NVS invariably wean back to their prehospitalization regimens; 80% produce some speech; and 20% speak with fair articulation past 10 years of age and occasionally after age 20 years. Also, NVS requires less home care resources than ventilation via tracheostomy, thus lowering costs of care.

Of 66 children in two centers who began sleep nasal NVS at 4 months of age (range, 1-10 months) and used it < 24 h per day for 3.6 ± 6.3 years, 37 became CNVS dependent (almost one-half of whom before 10 years of age). For 14 children, this scenario occurred without any hospitalizations. Twenty-one of the 37 have continued CNVS for a mean 11.6 ± 3.3 years; nine children are now > 20 years of age despite having had no ability to breathe on their own for > 10 years; two died after 3 years of age in out-of-state hospitals that do not offer CNVS or MIE; and two of the 44 local children also died at home before 3 years of age. Because four have only residual eye movements, they drool but do not aspirate sufficiently to decrease oxygen saturation; remarkably, their MIE (cough) flows are > 350 L/m. Already using CNVS for 20 years, these patients are likely to live many more years and never need tubes for ventilatory support (Figs 3,4,5). Had they undergone tracheotomy as infants, they may not have survived because, for similar conditions such as amyotrophic lateral sclerosis, the majority die of tube-related complications.

Figure 4
Figure Jump LinkFigure 4 A 1-year-old with typical spinal muscular atrophy type 1 just before beginning sleep noninvasive ventilatory support.Grahic Jump Location
Figure 5
Figure Jump LinkFigure 5 The same individual as in Figure 4 at 23 years of age using nasal noninvasive ventilatory support.Grahic Jump Location

Many clinicians argue that survival is not greatly improved by “noninvasive ventilation”, which for them means CPAP or low span bi-level PAP rather than NVS, but also that quality of life (QOL) is too poor to justify tracheotomy. Of the 187 members of pediatric medical societies unaware of extubation to CNVS and MIE, 48% recommended against intubation. Eighty percent of 33 Japanese pediatricians also recommended against interventions to prolong life. Medical directors of neuromuscular disease clinics have withheld information on ventilation because “parents are too biased to make appropriate decisions.” Although 70 health-care professionals judged the QOL of these patients to be < 2 on a Likert scale of 0 to 10 and most advised against ventilator use, 104 care providers (mostly parents) made the following Likert scale estimates for 66 such children (on a scale of 0-10): QOL, 7.8; provider’s QOL, 8.0; child’s happiness, 8.5; and worthwhile nature of the child’s life, 9.6. On a scale of 0 to 7, they estimated the children’s life satisfaction to be 6.0. Although the providers considered the effort in raising these children to be 60% greater than for their other children, they did not consider this responsibility to be an unreasonable burden.

With long experience with both tracheostomy and CNVS for SMA1 and milder conditions, I feel that it is inappropriate to criticize CNVS without trying it or to assess QOL from an able-bodied clinician’s perspective rather than from a patient’s perspective. Freed stressed the importance of professionals not imposing their own concepts, values, and judgments onto people with disabilities. Clinicians need to appreciate their inability to gauge disabled patients’ life satisfaction and potential for social and vocational productivity and refrain from letting their QOL judgments affect patient management decisions.

Children with SMA1 can be managed indefinitely by using CNVS and MIE. Few with SMA1 or milder neuromuscular disorders should require tracheostomies for long-term survival.

Bach J.R. .Tuccio M.C. .Khan U. .Saporito L. . Vital capacity in spinal muscular atrophy. Am J Phys Med Rehabil. 2012;91:487-493 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Niranjan V. .Weaver B. . Spinal muscular atrophy type 1: a noninvasive respiratory management approach. Chest. 2000;117:1100-1105 [PubMed]journal. [CrossRef] [PubMed]
 
Niranjan V. .Bach J.R. . Noninvasive management of pediatric neuromuscular ventilatory failure. Crit Care Med. 1998;26:2061-2065 [PubMed]journal. [CrossRef] [PubMed]
 
Villanova M. .Bach J.R. . Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2015;94:410-415 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Gupta K. .Reyna M. .Hon A. . Spinal muscular atrophy type 1: prolongation of survival by noninvasive respiratory aids. Pediatr Asthma Allergy Immunol. 2009;22:151-162 [PubMed]journal. [CrossRef]
 
Yim R. .Kirschner K. .Murphy E. .Parson J. .Winslow C. . A successful pregnancy in a patient with spinal muscular atrophy type 1 and severe kyphoscoliosis. Am J Phys Med Rehabil. 2003;82:222-225 [PubMed]journal. [PubMed]
 
Bach J.R. .Bianchi C. . Prevention of pectus excavatum for children with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2003;82:815-819 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Gonçalves M.R. .Hamdani I. .Winck J.C. . Extubation of unweanable patients with neuromuscular weakness: a new management paradigm. Chest. 2010;137:1033-1039 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Sinquee D. .Saporito L.R. .Botticello A.L. . Efficacy of mechanical insufflation-exsufflation in extubating unweanable subjects with restrictive pulmonary disorders. Respir Care. 2015;60:477-483 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Baird J.S. .Plosky D. .Nevado J. .Weaver B. . Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol. 2002;34:16-22 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. . Amyotrophic lateral sclerosis: communication status and survival with ventilatory support. Am J Phys Med Rehabil. 1993;72:343-349 [PubMed]journal. [PubMed]
 
Bach J.R. .Tran J. .Durante S. . Cost and physician effort analysis of invasive vs. noninvasive respiratory management of Duchenne muscular dystrophy. Am J Phys Med Rehabil. 2015;94:474-482 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Rajaraman R. .Ballanger F. .et al Neuromuscular ventilatory insufficiency: the effect of home mechanical ventilator use vs. oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil. 1998;77:8-19 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Kang S.W. . Disorders of ventilation: weakness, stiffness, and mobilization. Chest. 2000;117:301-303 [PubMed]journal. [CrossRef] [PubMed]
 
Gonçalves MR, Bach JR, Ishikawa Y, Saporito L, Winck JC. Outcomes of noninvasive management of end-stage neuromuscular respiratory muscle failure: a multicenter retrospective analysis.Eur Respir J Monographs. In press.
 
Hardart M.K. .Burns J.P. .Truog R.D. . Respiratory support in spinal muscular atrophy type 1: a survey of physician practices and attitudes. Pediatrics. 2002;110:E24- [PubMed]journal. [CrossRef] [PubMed]
 
Sakakihara Y. .Kubota M. .Kim S. .Oka A. . Long-term ventilator support in patients with Werdnig-Hoffmann disease. Pediatr Int. 2000;42:359-363 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Chaudhry S.S. . Management approaches in muscular dystrophy association clinics. Am J Phys Med Rehabil. 2000;79:193-196 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Vega J. .Majors J. .Freedman A. . Spinal muscular atrophy type 1 quality of life. Am J Phys Med Rehabil. 2003;82:137-142 [PubMed]journal. [CrossRef] [PubMed]
 
Freed M.M. . Quality of life: the physician’s dilemma. Arch Phys Med Rehabil. 1984;65:109-111 [PubMed]journal. [PubMed]
 

Figures

Figure Jump LinkFigure 1 Chest of child aged 1½ years with typical spinal muscular atrophy type 1 who did not benefit from sleep noninvasive ventilatory support.Grahic Jump Location
Figure Jump LinkFigure 2 Brothers ages 3 and 1 years with spinal muscular atrophy type 1 continuously dependent on noninvasive ventilatory support from 8 and 4 months of age, respectively, with well-formed chests.Grahic Jump Location
Figure Jump LinkFigure 3 The same brothers from Figure 2 at 20 and 18 years of age at the high school graduation of the younger brother, both with 0 mL of vital capacity for > 10 years and only residual eye movements.Grahic Jump Location
Figure Jump LinkFigure 4 A 1-year-old with typical spinal muscular atrophy type 1 just before beginning sleep noninvasive ventilatory support.Grahic Jump Location
Figure Jump LinkFigure 5 The same individual as in Figure 4 at 23 years of age using nasal noninvasive ventilatory support.Grahic Jump Location

Tables

References

Bach J.R. .Tuccio M.C. .Khan U. .Saporito L. . Vital capacity in spinal muscular atrophy. Am J Phys Med Rehabil. 2012;91:487-493 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Niranjan V. .Weaver B. . Spinal muscular atrophy type 1: a noninvasive respiratory management approach. Chest. 2000;117:1100-1105 [PubMed]journal. [CrossRef] [PubMed]
 
Niranjan V. .Bach J.R. . Noninvasive management of pediatric neuromuscular ventilatory failure. Crit Care Med. 1998;26:2061-2065 [PubMed]journal. [CrossRef] [PubMed]
 
Villanova M. .Bach J.R. . Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2015;94:410-415 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Gupta K. .Reyna M. .Hon A. . Spinal muscular atrophy type 1: prolongation of survival by noninvasive respiratory aids. Pediatr Asthma Allergy Immunol. 2009;22:151-162 [PubMed]journal. [CrossRef]
 
Yim R. .Kirschner K. .Murphy E. .Parson J. .Winslow C. . A successful pregnancy in a patient with spinal muscular atrophy type 1 and severe kyphoscoliosis. Am J Phys Med Rehabil. 2003;82:222-225 [PubMed]journal. [PubMed]
 
Bach J.R. .Bianchi C. . Prevention of pectus excavatum for children with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2003;82:815-819 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Gonçalves M.R. .Hamdani I. .Winck J.C. . Extubation of unweanable patients with neuromuscular weakness: a new management paradigm. Chest. 2010;137:1033-1039 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Sinquee D. .Saporito L.R. .Botticello A.L. . Efficacy of mechanical insufflation-exsufflation in extubating unweanable subjects with restrictive pulmonary disorders. Respir Care. 2015;60:477-483 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Baird J.S. .Plosky D. .Nevado J. .Weaver B. . Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol. 2002;34:16-22 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. . Amyotrophic lateral sclerosis: communication status and survival with ventilatory support. Am J Phys Med Rehabil. 1993;72:343-349 [PubMed]journal. [PubMed]
 
Bach J.R. .Tran J. .Durante S. . Cost and physician effort analysis of invasive vs. noninvasive respiratory management of Duchenne muscular dystrophy. Am J Phys Med Rehabil. 2015;94:474-482 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Rajaraman R. .Ballanger F. .et al Neuromuscular ventilatory insufficiency: the effect of home mechanical ventilator use vs. oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil. 1998;77:8-19 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Kang S.W. . Disorders of ventilation: weakness, stiffness, and mobilization. Chest. 2000;117:301-303 [PubMed]journal. [CrossRef] [PubMed]
 
Gonçalves MR, Bach JR, Ishikawa Y, Saporito L, Winck JC. Outcomes of noninvasive management of end-stage neuromuscular respiratory muscle failure: a multicenter retrospective analysis.Eur Respir J Monographs. In press.
 
Hardart M.K. .Burns J.P. .Truog R.D. . Respiratory support in spinal muscular atrophy type 1: a survey of physician practices and attitudes. Pediatrics. 2002;110:E24- [PubMed]journal. [CrossRef] [PubMed]
 
Sakakihara Y. .Kubota M. .Kim S. .Oka A. . Long-term ventilator support in patients with Werdnig-Hoffmann disease. Pediatr Int. 2000;42:359-363 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Chaudhry S.S. . Management approaches in muscular dystrophy association clinics. Am J Phys Med Rehabil. 2000;79:193-196 [PubMed]journal. [CrossRef] [PubMed]
 
Bach J.R. .Vega J. .Majors J. .Freedman A. . Spinal muscular atrophy type 1 quality of life. Am J Phys Med Rehabil. 2003;82:137-142 [PubMed]journal. [CrossRef] [PubMed]
 
Freed M.M. . Quality of life: the physician’s dilemma. Arch Phys Med Rehabil. 1984;65:109-111 [PubMed]journal. [PubMed]
 
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