A CASE REPORT OF A MALE INFANT WITH SMA TYPE 0 IN A LEVEL IV NICU

Background & Purpose: As pediatric physical therapists, infants and children with a diagnosis of spinal muscular atrophy are encountered for assessment and treatment in a variety of settings. Spinal muscular atrophy is an inherited neuromuscular disease, it is recessive in nature and is due to inherited mutations in the survival motor neuron (SMN1) gene. It has typically been described as having four subtypes of severity ranging from Type 1 (severe) to 4 (mild). This has expanded to include Type 0 (most severe). The prognosis for SMA Type 0 is poor with infants developing symptoms before birth or within the first few days of life.

Case Description: A male infant, born at 39 weeks, 6 days with a birth weight of 2610 grams (5.75 lb) was transferred to a Level IV NICU at 7 days of age from another institution for management of SMA. At the first hospital, the baby received hypothermia for hypoxic-ischemic encephalopathy for 4 days. He developed medical necrotizing enterocolitis at 9-10 weeks of age. Seizures were noted, confirmed by EEG at 12 weeks of age and treated with anti-epileptic drugs. Tracheostomy and a gastrostomy tube were placed at 2 months, 4 days of age to facilitate discharge planning. Nusinersin (Spinraza) was not able to be administered while inpatient due to insurance approval for outpatient only administration. Administration of Risidiplam was initiated (via g-tube) at 2 months, 12 days of age. He was followed by physical therapy from 14 days of age, at least two times a week, often more, until his transfer to a pediatric rehabilitation center at 3 months, 25 days of age.

Outcomes: The prioritization of interventions around body impairments and function allowed physical therapy to focus on improving/maintaining range of motion and positioning. Team collaboration allowed the infant to experience a greater frequency of tactile and sensory experiences. This occurred through physical therapy sessions several times a week, occupational therapy, and handling by medical staff with greater awareness of the need for touch and positioning. Use of positioning aides to maintain improved UE and LE alignment, allow for head/neck/trunk elevation were implemented. Use of slings for UE and LE movement in sidelying were also used. The baby was provided with visual and auditory stimulation through the use of music boxes and infant toys. Parent education and support were provided consistently throughout each session. A diagnosis of SMA Type 0 is a lifelong diagnosis. The primary impairments of body structures and functions are generally not expected to improve significantly over time, compensations to maintain some functions can be provided.

Discussion: This case report adds provides information on the assessment and treatment of an infant with SMA Type 0. Published literature is scarce regarding infants with SMA Type 0 in the physical therapy literature. This case illustrates the use of clinical reasoning within the ICF model.