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 (e.g., nasal mask) to invasive ventilation (e.g., 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

  • Standardised 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

COUGH ASSIST
MACHINE (Insufflator-exsufflator)

POTENTIAL BENEFITS

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

CONSIDERATIONS

  • Standardised 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 35–40 cm H2O to -35 to -40 cm H2O3

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
  • Increases airway secretions3
  • Impedes speech development3
Muscular Atrophy

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