Abstract
Recent advances in medical interventions have changed the prognosis for children with infantile-onset spinal muscular atrophy (SMA-1); however, little has been published regarding rehabilitation management. A rapid scoping review was conducted in November 2020 using Medline and CINAHL databases. Evidence supporting use of assistive devices and equipment to enhance participation, mobility, function, and posture in lying, sitting, and standing positions was sought. From 239 articles, only five studies (describing use of augmentative communication, manual and power mobility, supported standing and orthotic devices) met inclusion criteria. Results are presented alongside a case report of a 5-year-old boy (treated with Nusinersen since 7 months-of-age) who uses a variety of devices to enhance his activity and participation in family life. While reclined and tilted sitting positions as well as power mobility were previously considered for children with SMA-1, this child has progressed to supported upright standing, self-propelling a lightweight manual wheelchair indoors, communicating using multiple methods and taking steps in a dynamic mobility device. Power mobility was introduced in a switch-adapted cart at 11 months and he was independently exploring indoors and outside in his power wheelchair before 20 months. Research evidence is limited, but alongside the case report highlights the importance of a comprehensive and proactive approach to enhancing function, fun and participation with family and friends through adaptive equipment for children with significant and life-limiting disabilities.
Highlights
Infantile-onset or type 1 spinal muscular atrophy (SMA-1) is the most common and severe form of this group of disorders characterized by progressive degeneration of the spinal motor neurons leading to progressive muscle weakness [1]
(1) The specific question guiding this review: What evidence exists to support the use of postural management equipment, mobility devices or other assistive technologies to promote activity and participation in children diagnosed with SMA-1?
Stander use from 6 months of age AFO: ankle foot orthoses; CMD: congenital muscular dystrophy; ND: not disclosed; PWC: power wheelchair SD: standard deviation; SMA: spinal muscular atrophy; TLSO: thoraco-lumbar-sacral orthosis
Summary
Infantile-onset or type 1 spinal muscular atrophy (SMA-1) is the most common and severe form of this group of disorders characterized by progressive degeneration of the spinal motor neurons leading to progressive muscle weakness [1]. The first international consensus on diagnosis and management of SMA in 2007 [2] proposed dividing the phenotypes by age of presentation and highest level of function achieved and has been widely adopted. Non-sitters (SMA-1) present with symptoms before 6-months of age and never achieve independent sitting. Sitters (SMA-2) are diagnosed after 6 months-of-age and achieve independent sitting, but do not achieve independent walking. Children with SMA-1 were previously anticipated to have a mean survival age of less than 2 years; changes in medical management such as the use of non-invasive respiratory support (e.g., bi-level positive airway pressure—Bi-PAP) and nutritional support (e.g., enteral feeding) have changed the natural history of the disease with increased survival noted for cohorts born between 1994 and 2005 in comparison to historical cohorts [3]
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