Fiberoptic endoscopic evaluation of swallowing (FEES) in children with spinal muscular atrophy type 1: feasibility, swallowing safety and efficacy, and dysphagia phenotype.

PURPOSE: Although dysphagia is a common symptom among patients with Spinal Muscular Atrophy Type 1 (SMA1), scant data exist on the application of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in this population. The aim was to analyze FEES feasibility, swallow safety and efficacy, dysphagia phenotype, and agreement with VideoFluoroscopic Swallow Study (VFSS) in children with symptomatic, medication-treated SMA1 and oral feeding. METHODS: 10 children with SMA1 underwent FEES. Six patients had also a VFSS. Two clinicians independently rated FEES and VFSS videos. Swallowing safety was assessed using the Penetration-Aspiration scale (PAS). Dysphagia phenotypes were defined according to the classification defined by Warnecke et al. Swallowing efficacy was evaluated with the Yale Pharyngeal Residue Severity Rating Scale (YPRSRS) in FEES, whereas pharyngeal residue was rated as present or absent in VFSS. RESULTS: FEES was performed in all children without complications. Four children tolerated bolus trials during FEES, in 4 children swallowing characteristics were inferred based on post-swallow residues, while 2 children refused to eat and only saliva management was assessed. The dysphagia phenotype of predominance of residue in the piriform sinuses was documented in 7/8 children. The PAS score was < 3 in 3 children and > 5 in one child. Swallowing efficacy was impaired in 8/8 children. VFSS showed complete agreement with FEES. CONCLUSIONS: FEES is a feasible examination in children with SMA1. Swallowing safety and efficacy are impaired in nearly all patients with strong agreement between FEES and VFSS. Dysphagia is characterized by the predominance of residue in the piriform sinus.

The indication of fusion to the pelvis in neuromuscular scoliosis is based on the underlying disease rather than on pelvic obliquity.

INTRODUCTION: The decision to instrument to L5 or ilium, in NMS, is usually based on radiologic factors, including pelvic obliquity (PO) > 15°, apex of curvature < L3, and Cobb angle > 60°. Since scoliosis in these patients is caused by a neurologic disease, we based our decision to stop at L5 on the presence of spasticity or flaccidity. PATIENTS & METHODS: The senior author did 109 primary fusions in NMS. Of those with DMD or SMA only 16% were instrumented to the ilium. The main factor for our decision was the correction potential of the truncal shift and PO in the supine traction radiographs and the absence of severe spasticity. RESULTS: The 57 patients with DMD/SMA had a mean preoperative curvature of 68°, PO of 17°, and truncal shift of 20°. 74% should have been instrumented to the pelvis, but only 16% were. Those instrumented shorter as the rule, were corrected from 74° to 26° and had a postoperative PO of 8°. There was no significant difference in postoperative correction and PO compared to those instrumented to L5 on standard protocol. Subsequent extension to the pelvis was needed in 1 CP patient. There were no significant changes after 2 years. Of the 20 patients instrumented to the pelvis 11 had cerebral palsy and a preop curvature of 89°, a PO of 21° and a truncal shift of 25°. DISCUSSION: The decision on instrumentation length should take flexibility and disease into consideration. If the trunk is centred over the pelvis, deterioration will not occur in absence of spasticity.

Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments.

BACKGROUND: Spinal Muscular Atrophy (SMA) is the most common neurodegenerative disease in childhood. New therapeutic interventions have been developed to interrupt rapid motor deterioration. The current standard of clinical evaluation for severely weak infants is the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), originally developed for SMA type 1. This test however, remains subjective and requires extensive training to be performed reliably. OBJECTIVE: Proof of principle of the motion tracking method for capturing complex movement patterns in ten children with SMA. METHODS: We have developed a system for tracking full-body motion in infants (KineMAT) using a commercially available, low-cost RGB-depth sensor. Ten patients with SMA (2-46 months of age; CHOP INTEND score 10-50) were recorded for 2 minutes during unperturbed spontaneous whole-body activity. Five predefined motion parameters representing 56 degrees of freedom of upper, lower extremities and trunk joints were correlated with CHOP INTEND scores using Pearson product momentum correlation (r). Test-retest analysis in two patients used descriptive statistics. RESULTS: 4/5 preselected motion parameters highly correlated with CHOP INTEND: 1. Standard deviation of joint angles (r = 0.959, test-retest range 1.3-1.9%), 2. Standard deviation of joint position (r = 0.933, test-retest range 2.9%), 3. Absolute distance of hand/foot travelled (r = 0.937, test-retest range 6-10.5%), 4. Absolute distance of hand/foot travelled against gravity (r = 0.923; test-retest range 4.8-8.5%). CONCLUSIONS: Markerless whole-body motion capture using the KineMAT proved to objectively capture motor performance in infants and children with SMA across different severity and ages.