Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study.

BACKGROUND: Spinal muscular atrophy (SMA) is a hereditary motor neuron disorder, characterized by the degeneration of motor neurons and progressive muscle weakness. There is a large variability of disease severity, reflected by the classification of SMA types 1-4. OBJECTIVE: The aim of this cross-sectional study was to determine the nature of swallowing problems and underlying mechanisms in patients with SMA types 2 and 3, and the relationship between swallowing and mastication problems. METHODS: We enrolled patients (aged 13-67 years) with self-reported swallowing and/or mastication problems. We used a questionnaire, the functional oral intake scale, clinical tests (dysphagia limit, and timed test swallowing, the test of mastication and swallowing solids), a videofluoroscopic swallowing study (VFSS), and muscle ultrasound of the bulbar muscles (i.e. digastric, geniohyoid and tongue muscles). RESULTS: Non-ambulant patients (n = 24) had a reduced dysphagia limit (median 13 ml (3-45), and a swallowing rate at the limit of normal (median 10 ml/sec (range 4-25 ml). VFSS revealed piecemeal deglutition and pharyngeal residue. We found pharyngo-oral regurgitation in fourteen patients (58%), i.e. they transported the residue from the hypopharynx back into the oral cavity and re-swallowed it. Six patients (25%) demonstrated impaired swallowing safety (i.e. penetration aspiration scale > 3). Muscle ultrasound revealed an abnormal muscle structure of the submental and tongue muscles. Ambulant patients (n = 3), had a normal dysphagia limit and swallowing rate, but VFSS showed pharyngeal residue, and muscle ultrasound demonstrated an abnormal echogenicity of the tongue. Swallowing problems were associated with mastication problems (p = 0.001).

Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue.

Mastication problems can have a negative impact on the intake of food and quality of life. This cross-sectional study characterizes mastication problems using clinical and instrumental assessments in patients with spinal muscular atrophy (SMA) types 2 and 3 with self-reported bulbar problems. We included 27 patients (aged 13-67 years), 18 with SMA type 2 and 9 patients with SMA type 3 (of whom three were still ambulant) and applied a questionnaire, clinical mastication tests (TOMASS and 6-min mastication test), and muscle ultrasound of the mastication muscles. Non-ambulant patients demonstrated inefficient mastication as reflected by median z scores for masticatory cycles (z = 1.8), number of swallows (z = 4.3) and time needed to finish the cracker (z = 3.4), and limited endurance of continuous mastication as demonstrated by the median z scores of the 6-min mastication test (z = - 1.5). Patients reported increased fatigue directly after the 6-min mastication test as well as 5 min after completing the test (p < 0.001; p = 0.003). Reduced maximal mouth opening was associated with mastication problems (p < 0.001). Muscle ultrasound of the mastication muscles showed an abnormal muscle structure in 90% of both ambulant and non-ambulant patients. This study aims to understand the nature and underlying mechanisms of mastication problems in patients with SMA types 2 and 3 with reported bulbar problems.

Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.

BACKGROUND: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. OBJECTIVE: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. METHODS: We prospectively included 16 infants with SMA type 1 between September 2016 and October 2018. Eleven infants received palliative care and five infants best supportive care in combination with nusinersen. We compiled and used an observation list with feeding related issues and observed feeding sessions during inpatient and outpatient visits. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) was used as a measure of motor function. RESULTS: All infants in the palliative care group (median onset of disease 14 days (range 1-56); median inclusion in the study 52 days (range 16-252) demonstrated symptoms of fatigue during feeding and unsafe swallowing. Symptoms were short nursing sessions (10-15 minutes), and not being able to finish the recommended feeding volumes (72%); increased frequency of feeding sessions (55%); coughing when drinking or eating (91%), and wet breathing during and after feeding (64%).Two out of five infants in the nusinersen group (median onset of disease 38 days (range 21-90); inclusion in the study at 63 days (range 3-218) were clinically pre-symptomatic at the start of treatment. The other three infants showed symptoms of fatigue and unsafe swallowing at inclusion in the study. These symptoms initially decreased after the start of the treatment, but (re)appeared in all five infants between the ages of 8 to 12 months, requiring the start tube of feeding. In the same period motor function scores significantly improved (median increase CHOP INTEND 16 points). CONCLUSION: Impaired feeding and swallowing remain important complications in infants with SMA type 1 after the start of nusinersen. Improvement of motor function does not imply similar gains in bulbar function.

Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.

BACKGROUND: Spinal muscular atrophy (SMA) is hereditary motor neuron disorder, characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by the homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA shows a wide variability of disease severity. OBJECTIVE: To investigate self-reported bulbar problems in patients with SMA, and their relationship to age, functional motor scores and active maximum mouth opening. METHODS: We used the Diagnostic List of Dysphagia and Dysarthria in (pediatric) patients and relevant recent clinical data from the national SMA database. RESULTS: The 118 included patients with SMA frequently reported jaw problems (34%), fatigue associated with mastication (44%), choking (56%) and intelligibility problems (27%). Jaw, mastication and swallowing problems frequently occurred in combination with each other. There was an increase of reported bulbar problems in patients with SMA type 3a, older than 30 years of age, compared to younger patients of this SMA type.The Hammersmith Functional Motor Scale Expanded scores showed a negligible correlation with jaw and mastication problems, a low negative correlation with swallowing problems and a moderate negative correlation with intelligibility problems. Reduced mouth opening showed a significant, but low correlation with bulbar complaints in patients with SMA type 2. CONCLUSIONS: Fatigue associated with mastication and swallowing problems were frequently reported complaints. Patients 30 years and older with milder forms of SMA showed an increase of self-reported bulbar problems.

Prevalence of feeding disorders in children with cleft palateonly: a retrospective study.

OBJECTIVES: The purpose of this study in children with cleft palate only (CPO) is to (1) explore the prevalence of feeding problems on a retrospective basis, (2) investigate rates of nasogastric (NG) feeding, (3) examine the prevalence of associated disorders and/or syndromes (AssD/S), (4) investigate if there are certain risk factors associated with feeding difficulties, NG feeding, and failure of breastfeeding, and (5)investigate the effect of palatoplasty on feeding difficulties. MATERIALS AND METHODS: In total, 90 questionnaires were included in this study. The medical records were reviewed. RESULTS: Feeding difficulties were reported in 67 % (n =60) of all cases. NG feeding was given in 32% (n =28) of all children. Forty-nine children (54 %) have associated malformations. There is no significant relation for gender, gestational age,and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. The severity of the cleft is significantly related to the prevalence of AssD/S. After palatoplasty, feeding difficulties improved in 79 % of the CPO children. CONCLUSIONS AND CLINICAL RELEVANCE: First, our results clearly indicate that children with CPO are at high risk of developing feeding difficulties (67 %); NG feeding is often necessary (32 %). Second, our results also indicate that the more severe the cleft, the more likely the chance for AssD/S. Third, these verity of the cleft is significantly related to the prevalence of AssD/S. Fourth, there is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. Fifth, improvement of feeding difficulties after surgery supports the importance of the soft palate closure in relation to sucking patterns and feeding skills.

Prevalence of feeding disorders in children with cleft palate only: a retrospective study.

OBJECTIVES: The purpose of this study in children with cleft palate only (CPO) is to (1) explore the prevalence of feeding problems on a retrospective basis, (2) investigate rates of nasogastric (NG) feeding, (3) examine the prevalence of associated disorders and/or syndromes (AssD/S), (4) investigate if there are certain risk factors associated with feeding difficulties, NG feeding, and failure of breastfeeding, and (5) investigate the effect of palatoplasty on feeding difficulties. MATERIALS AND METHODS: In total, 90 questionnaires were included in this study. The medical records were reviewed. RESULTS: Feeding difficulties were reported in 67% (n = 60) of all cases. NG feeding was given in 32% (n = 28) of all children. Forty-nine children (54%) have associated malformations. There is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. The severity of the cleft is significantly related to the prevalence of AssD/S. After palatoplasty, feeding difficulties improved in 79% of the CPO children. CONCLUSIONS AND CLINICAL RELEVANCE: First, our results clearly indicate that children with CPO are at high risk of developing feeding difficulties (67%); NG feeding is often necessary (32%). Second, our results also indicate that the more severe the cleft, the more likely the chance for AssD/S. Third, the severity of the cleft is significantly related to the prevalence of AssD/S. Fourth, there is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. Fifth, improvement of feeding difficulties after surgery supports the importance of the soft palate closure in relation to sucking patterns and feeding skills.