Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

Abstract

Purpose This study aimed to report on implementing flexible endoscopic evaluation of swallowing (FEES) in infants and toddlers with type 1 spinal muscular atrophy (SMA). In addition, a comparison of FEES results and clinical scores was carried out. Methods A prospective pilot study was conducted including ten symptomatic children with SMA type 1 (two SMN2 copies). They started treatment with one of the three currently approved therapies for SMA at a median age of 3.8 months (range 0.7–8.9). FEES was performed according to a standard protocol using Penetration–Aspiration Scale (PAS) and Murray Secretion Scale as a primary outcome. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) for motor function, Neuromuscular Disease Swallowing Status Scale (NdSSS), Oral and Swallowing Abilities Tool (OrSAT), and single clinical swallowing-related parameters were also assessed. Results Distinct swallowing disorders were already evident in eight children at inclusion. The most common findings from FEES were pharyngeal secretion pooling, penetration, and aspiration of saliva and food as well as delayed initiation of swallowing. Despite an average increase in motor function, no comparable improvement was found in swallowing function. None of the surveyed clinical scores showed a significant dependence on PAS in a mixed linear model. Conclusions Valuable information regarding the status of dysphagia can be gathered endoscopically, particularly concerning secretion management and when oral intake is limited. Currently available clinical tools for children with type 1 may represent a change in nutritional status but are not yet mature enough to conclude swallowing ability. Further development is still required.

Longitudinal changes of swallowing safety and efficiency in infants with spinal muscular atrophy who received disease modifying therapies

“…21 A recent case series reported the use of FEES as an alternative method of evaluation in this population. 15 This study showed the presence of post swallow residue in all but one patient. Residue ranged from trace to severe in the vallecula and pyriform sinus (pharyngeal residue), regardless of the trialed consistency.…”

“…Given the limited number of patients, it is difficult to draw conclusions about the short-and long-term impact of this finding. 15 FEES composes the benefit of avoiding radiation exposure and provides detailed information regarding secretion management, in addition to aspiration and presence of pharyngeal residue. A limitation of the use of FEES is that it does not provide comprehensive evaluation of the oral phase of swallowing, which as demonstrated in this data set can often be abnormal in treated children.…”

“…Lastly, as previously reported, improvement in neuromotor outcome scores, primarily CHOP INTEND, was seen in every subject, regardless of swallowing safety and efficiency findings on VFSS. 15 The GRO has not been frequently reported in the literature as it was only recently validated for use in the SMA population. 28 However, it provides valuable information beyond the first two years of life, particularly in the case of those patients that reached the maximum CHOP INTEND score before that age.…”

“…[8][9][10][11] While safety and efficiency are important aspects of swallowing, available literature has primarily focused on safety [12][13][14] and less on efficiency. 15 Safe swallowing requires adequate airway protection from entry of ingested material through effective laryngeal vestibule closure, a tightly organized sequence of events required to protect the airway. 16,17 Effective closure of the laryngeal vestibule hinges on the precise and timely coordination of anatomical components.…”

“…19 A recent study performed in treated children with SMA described the swallowing profiles of ten children (median age of 9.4 months) using fiberoptic endoscopic evaluation of swallowing (FEES), demonstrating issues with safety, secretion management, and presence of pharyngeal residue. 15 Poor swallowing efficiency has been shown to be a risk factor for aspiration in subsequent swallows in other populations. 20,21 The recent implementation of newborn screening programs has enabled earlier dysphagia evaluations, and children are now diagnosed during the clinically silent or prodromal stages.…”