Assistive Devices Should Be Standard in Managing SMA Type 1

Assistive equipment is vital to enhancing function, fun, and social participation in children with severe disabilities such as spinal muscular atrophy (SMA) and should be considered standard-care therapies, along with  medications such as Spinraza (nusinersen).

A recent scientific study reviewed the available literature on assistive devices and equipment, and presented those findings alongside the case report of a 5-year-old boy with SMA type 1 (infantile onset), who uses a variety of devices to enhance his everyday life.

The study, “Enhancing Function, Fun and Participation with Assistive Devices, Adaptive Positioning, and Augmented Mobility for Young Children with Infantile-Onset Spinal Muscular Atrophy: A Scoping Review and Illustrative Case Report,” was published in the journal disabilities.

Advances in medical interventions — both pharmaceutical and technological — have improved the prognosis for children with SMA type 1. These changes have led to higher emphasis on proactive interventions, such as adaptive equipment and assistive devices, meant to improve children’s activity and social participation.

Few scientific studies discussing these devices, however, have included an analysis of their role in treating SMA type 1.

Researchers from the Sunny Hill Health Centre, in Vancouver, British Columbia, and the Montgomery County Infants and Toddlers Program, Silver Spring, Maryland, searched the Medline and CINAHL databases for studies containing evidence that supported the use of assistive devices in SMA type 1.(CINAHL stands for Cumulative Index to Nursing and Allied Health.)

Of 223 articles, 17 were reviewed; five included children diagnosed with SMA type 1. These studies described the use of augmentative communication, manual and power mobility, supported standing, and orthotic devices.

As an example of how these technologies affect the management of SMA type 1, the investigators presented their findings alongside the case of Tom, a 5-year-old boy, who was diagnosed at five months. Tom had stopped kicking and lost head control at age 3 months and by 7 months, had been enrolled in a clinical trial of Spinraza.

Tom began moving his arms one month following dosing and became able to remain seated cross-legged for 15–20 minutes by age 5.

Three studies discussed power mobility, which the researchers say has been “consistently recommended as the only means of providing efficient independent mobility” for people with SMA type 1. Overall, these studies recommended early introduction of power mobility devices and the inclusion of supportive sitting and tilt/recline functions.

Tom received a switch-adapted cart with tilt/recline function and an overhead arm suspension system at 11 months. He began independently exploring indoor and outdoor settings in a power wheelchair before reaching 20 months. He can now propel himself in a lightweight manual wheelchair.

While no studies assessed the use of gait trainers, supportive walkers, or tricycles, several mentioned their use. One study, for instance, noted that five school-aged children tolerated arm cycling well.

At almost 4 years of age, Tom received a hands-free dynamic mobility device similar to a gait trainer. At present, he stands upright while supported and although he needs help in moving the walker forward, can take small steps. He also uses a fixed-gear special-needs tricycle with supportive sitting, used to explore his street as an alternative to his wheelchair.

One study addressed augmentative and alternative communication devices in SMA type 1 children. Most children used either hand gestures or speech, while a small number used a combination of both.

Tom experienced severe speech problems and began using formal symbol-based communication via tablet between the ages of 2 and 3. He currently uses the tablet largely for games and communicates mostly through speech. His tablet progressed from a specialized device with keyguard to a normal tablet, as he gained strength and accuracy.

Tom now can hold a pencil and is learning to print, although he likely will continue to use technological support.

Mobile arm assists appeared broadly useful among people with diverse neuromuscular conditions.

Tom, for instance, used a custom overhead sling arm-assist to help him develop play skills and handle lightweight toys from 11 months until age 3. At this point, Tom had developed enough arm strength and movement to no longer need it.

Participation in activities and other social interactions is a primary goal in pediatric rehabilitation. Despite limited data on how assistive technology supports and facilitates participation among children with SMA type 1, the available studies suggest that it plays a vital role.

Using a variety of assistive tools, Tom interacts with his family and other children, and enjoys a measure of independence outdoors and within his community. The technology enabling this soon may help him integrate into school.

Finally, the researchers addressed the costs of medication and assistive technologies.

For a child with SMA-1,  the estimated cost of the first five years of Spinraza is $2,295,000: approximately $127,500 per dose, six doses in the first year and three maintenance doses for each year thereafter. That of equipment covered in this study over the same time period is estimated at $125,500.

“Adaptive equipment that increases function, participation and quality of life represents approximately 0.05% of the drug cost,” the researchers wrote. “If society accepts the cost of life-saving drugs and other medical interventions, we propose that providing the equipment needed to support activity and participation must also be considered standard of care.”