Individuals may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions.1

Children with spinal muscular atrophy demonstrate a wide range of respiratory compromise2

Respiratory compromise in children with infantile-onset (consistent with Type I) spinal muscular atrophy may be differentiated into 3 categories2:

  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)3

POTENTIAL BENEFITS

CONSIDERATIONS

BIPAP MACHINE

POTENTIAL BENEFITS

  • Noninvasive ventilatory support (NIV)4
  • May reduce the respiratory disturbance index, improve sleep stage distribution, and enhance quality of life2
  • In combination with airway clearance techniques, may reduce the need for intubation4

CONSIDERATIONS

  • Standardized settings not established4
  • Goal is to maintain O2 saturation ≥94% (pulse oximeter) during upper respiratory tract infections; therefore, children may receive continuous NIV and cough assist2

MECHANICALLY
ASSISTED COUGH2 (Insufflator/exsufflator)

POTENTIAL BENEFITS

  • Noninvasive4
  • Effective management of secretion removal
  • May be used with an oronasal mask2
  • In combination with noninvasive ventilation, may reduce the need for intubation4

CONSIDERATIONS

  • Standardized settings not established4
  • May be intimidating for both parents/caregivers and patients4
  • Full cooperation is uncommon before 2 years of age2
  • May not be effective at pressures below 35 to 40 cmH2O and -35 to -40 cmH2O2

TRACHEOSTOMY (Invasive ventilatory support requiring long-term airway)

POTENTIAL BENEFITS

  • Potentially life-prolonging4

CONSIDERATIONS

  • Invasive4
  • Permanent4
  • May be an ethical concern4
  • May not improve quality of life4
  • May increase airway secretions2
  • May impede speech development2
Muscular Atrophy

The clinical spectrum of SMA is highly variable and often requires comprehensive medical care involving a multidisciplinary approach.1