Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach.

Background: Spinal muscular atrophy (SMA), a genetic neuromuscular disease caused by lack of survival of motor neuron (SMN) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. While swallowing disorders are common, they remain poorly studied. Objectives: Our study aimed to explore 1) intraoral pressure measurements with the Iowa Oral Performance Instrument system and the reliability of a Swallowing Function Assessment Questionnaire (SFAQ) in healthy controls, and 2) evaluate their use as swallowing function biomarkers and the evolution of swallowing function over time in children with SMA. Methods: We recruited 53 healthy children and 27 SMA patients all treated with SMN gene modulator therapy. Participants completed the SFAQ and underwent at least one measurement of maximal oral pressures (lingual, labial, and masseter). Results: Mean oral normalized pressure index were lower (all sites p < 0.001) and mean SFAQ scores were higher (p < 0.001) in patients compared with healthy controls. Pressure evolution over 1 year in SMA patients for all three oral sites did not show significant differences. SFAQ scores correlated negatively with oral pressures at all three sites in patients. Conclusions: Both tools provided new insights on the oral and pharyngeal phase of swallowing in SMA patients. In SMA patients, muscle strength in certain crucial anatomical regions during swallowing is weaker than in healthy children.

Case report: Subacute transverse myelitis with gait preservation secondary to Lyme disease and a review of the literature.

Subacute presentation with gait preservation is rare in the initial presentation of transverse myelitis (TM) in children. Lyme TM is poorly described in the literature. Here, we present the case of a 10-year-old boy who presented with neck pain with irradiation in the upper limbs for 13 days, accompanied by a right latero-torticollis. Magnetic resonance imaging (MRI) of the spine showed a hypersignal in the centromedullary T2 weighted image (WI) between C1 and C7, which was suggestive of cervical TM. A lumbar puncture revealed pleocytosis and proteinorachia. The test results of Borrelia IgG in the blood and intrathecal IgG synthesis were positive, confirming the diagnosis of TM secondary to Lyme disease. The patient was treated with high doses of steroids and antibiotics, following which he recovered completely. After a review of the clinical features of the eight previously published pediatric cases, we can conclude that Lyme TM usually has a subacute clinical presentation and is frequently limited to the cervical spine with pure sensory symptoms and gait preservation. Moreover, acute and chronic sphincter dysfunction is rare, and recovery is usually complete.