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Respiratory compromise is the major cause of morbidity and mortality in spinal muscular atrophy (SMA). These children may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions.1,2

Children with spinal muscular atrophy demonstrate a wide range of respiratory compromise3

Respiratory compromise in children with infantile-onset (consistent with Type I) spinal muscular atrophy may be differentiated into 3 categories3:

  1. Infants ≤5 months of age who require both continuous ventilatory support and non-oral nutritional support
  2. Infants with ineffective cough who develop acute respiratory compromise during upper respiratory tract infections and require non-oral nutritional support before 24 months of age
  3. Infants who do not develop respiratory compromise or who do not require non-oral nutritional support until after 24 months of age (approximately 10% of all children with infantile-onset spinal muscular atrophy)  

Ventilatory support provided in the home can range from noninvasive ventilation (eg, nasal mask) to invasive ventilation (eg, permanent airway, such as a tracheostomy tube)4

POTENTIAL BENEFITS

CONSIDERATIONS

BIPAP MACHINE

POTENTIAL BENEFITS

  • Noninvasive ventilatory support (NIV)1
  • May reduce the respiratory disturbance index, improve sleep stage distribution, and enhance quality of life1
  • In combination with airway clearance techniques, may reduce the need for intubation1

CONSIDERATIONS

  • Standardized settings not established1
  • Goal is to maintain O2 saturation ≥94% (pulse oximeter) during upper respiratory tract infections; therefore, children may receive continuous NIV and cough assist3

MECHANICALLY
ASSISTED COUGH3 (Insufflator/exsufflator)

POTENTIAL BENEFITS

  • Noninvasive1
  • Effective management of secretion removal
  • May be used with an oronasal mask3
  • In combination with noninvasive ventilation, may reduce the need for intubation1

CONSIDERATIONS

  • Standardized settings not established1
  • May be intimidating for both parents/caregivers and children
  • Full cooperation is uncommon before 2 years of age3
  • May not be effective at pressures below 35 to 40 cmH2O and -35 to -40 cmH2O3

TRACHEOSTOMY (Invasive ventilatory support requiring long-term airway)

POTENTIAL BENEFITS

  • Potentially life-prolonging

CONSIDERATIONS

  • Invasive
  • Permanent
  • May be an ethical concern1
  • May not improve quality of life1
  • May increase airway secretions3
  • May impede speech development3

Mary Schroth, MD

Pediatric Pulmonologist

Considerations in the care of children with SMA  

Providing respiratory support at home

Parents may feel a bit overwhelmed by the idea of delivering respiratory care at home.

At my clinic, a respiratory therapist (RT) works with the family to introduce them to airway clearing techniques and the insufflation-exsufflation (cough-assist) machine. They will also show them the bi-level positive airway pressure (BiPAP) device if it’s appropriate. The RT will spend an hour with the family training them in the use of the equipment.  A durable medical equipment company separate from my clinic provides the equipment, and also trains the family in the use, care, and cleaning of those devices. 

We give our caregivers a copy of the Breathing Basics booklet that we developed through Cure SMA. The families can get that when they call Cure SMA. They are bombarded with all kinds of new information, so that it’s really hard to stay focused. They read what they can, and what they need to know right then.

Multidisciplinary care

At my center, I direct most of the care, but we have a multidisciplinary clinic. A nurse coordinator fields most of the calls from the families and helps to direct the families to the right care providers. We provide not only pulmonary and respiratory care, but also nutrition, neurology, orthopedic surgery, rehabilitation medicine, pediatric care, and cardiology. That said, the nurse coordinator is the person who’s really in the middle helping families navigate our system.

The role of the pediatrician 

The general pediatrician, in my opinion, has a very critical role. He or she is the person who’s facilitating that the child gets the care and equipment they need, as well as all of their immunizations. The pediatrician should serve as the “medical home,” which isn’t a physical place. It’s really a concept. 

Medical home refers to who is in the center. The child is in the center of care, but the medical home is where you’d find all the other people who are needed to optimize the child’s medical care. The pediatrician or primary care provider should really be in the middle helping the family navigate their team. The physician usually has team members: a nurse, a scheduler, or a care coordinator who’s helping to coordinate all of that care. 

For example, yesterday I chatted with a general pediatrician who just wanted to touch base about a child with SMA. He wanted to make sure that he’s doing everything that he can in his role caring for this child. And so we talked about immunizations. We talked about her weight and her growth, which in SMA is a very important part of what they should be monitoring.

Muscular Atrophy

The clinical spectrum of SMA is highly variable and often requires comprehensive medical care involving multiple disciplines.1