Table 4.

Treatment of Manifestations in Individuals with X-Linked Infantile Spinal Muscular Atrophy

Manifestation/
Concern		TreatmentConsiderations/Other
Weak suck →
poor weight
gain 		Placement of a gastrostomy tube & nutritional supplementation 1
  • For affected males who survive newborn period
  • Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia &/or weak suck
GERD Standard treatment
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as neededIf diet & ↑ water content are insufficient
Respiratory insufficiency/
failure
options 2, 3 		Palliative care &/or no respiratory support 4May be an option, depending on family preference
Airway clearance techniques & secretion mgmt 5
  • Incl mechanical in-exsufflator in conjunction w/suctioning & chest physiotherapy, esp during acute illness.
  • Use of mechanical in-exsufflation in treatment of children w/neuromuscular diseases (incl those w/XL-SMA) appears to ↓ pulmonary complications.
Noninvasive ventilation 5 (e.g., BiPAP)
  • For hypoventilation as demonstrated by ↓ oxygen saturation by pulse oximetry or by obstructive sleep apnea
  • BiPAP may improve chest wall & lung development, which may ↓ lung infections & pulmonary comorbidity.
Tracheostomy w/permanent mechanical ventilationEthical considerations re use of invasive ventilation in severely affected infants w/XL-SMA must be addressed.
Joint
contractures 		PT, OT
Consider surgical intervention.For severe contractures
Progressive
scoliosis 		Standard surgical intervention per orthopedistFor severe scoliosis
Family/
Community 		Ensure appropriate social work involvement to connect families w/local resources, respite, & support.Ongoing assessment of need for palliative care involvement &/or home nursing
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy

1.

Including higher-calorie feeds and fat supplementation

2.

Options should be discussed with the parents/care providers before respiratory failure occurs.

3.

The type of respiratory support is dependent on the individual's respiratory status, quality-of-life goals, and reduction in respiratory complications.

4.

Discuss "do not attempt to resuscitate" status with the family before respiratory failure occurs. This discussion may begin early but is appropriate when abdominal breathing is present and/or the forced vital capacity is less than 30%.

5.

Noninvasive pulmonary intervention should be incorporated into the management of all affected individuals.

From: Spinal Muscular Atrophy, X-Linked Infantile

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