Disclosures: Supreet Deshpande, MD: No financial relationships or conflicts of interest

Case Description: We present two cases of children with SMA type 1 treated with nusinersen seen at a large pediatric rehabilitation hospital.

Setting: Large pediatric rehabilitation hospital

Patient: Case 1: A 2-year-old girl, who has received nusinersen since 7 months old, has made significant motoric gains and is able to roll independently and sit for 5 to 10 minutes unsupported. She is able to speak in short sentences and needs BiPAP only while sleeping. However, she continues to aspirate and has been unable to transition to eating orally. Case 2: A 3-year-old girl, who has received nusinersen since 3 months old, has made significant motoric gains and is able to scoot independently and stand holding on to objects. She is able to articulate well and does not need any respiratory support. However, she continues to aspirate and has been unable to eat orally. Assessment/

Results: In these 2 children with SMA 1 being treated with nusinersen, although they have had significant strength improvements, they have yet to show improvements in their ability to swallow and still require gastrostomy tube feeds.

Discussion: Historically, children with SMA 1 have had severe quadriplegia and respiratory insufficiency with a life expectancy of 1-2 years. Nusinersen has helped children with SMA 1 attain motor skills and survive longer without needing continuous respiratory support. However, in these case reports, dysphagia in these children does not seem to improve at the same level as their other motor skills.

Conclusion: Nusinersen improves muscle strength in children with SMA 1 but may not improve dysphagia. It is important to counsel families about the possible need for ongoing gastrostomy tube feeds.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/dysphagia-in-two-children-with-spinal-muscle-atrophy-sma-type-1-treated-with-nusinersen/