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Orphanet Journal of Rare Diseases Jun 2024Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However,...
BACKGROUND
Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, often with non-specific symptoms leading to delayed and misdiagnosis. Dysphagia, commonly recognized as a clinical morbidity in NPC1, raises concerns for swallowing safety and aspiration risk. This study aims to characterize swallowing function in AO NPC1, addressing the gap in understanding and clinical management.
METHODS
Fourteen AO NPC1 individuals in a prospective natural history study (NCT00344331) underwent comprehensive assessments, including history and physical examinations utilizing the NPC1 severity rating scale, videofluoroscopic swallowing studies with summary interpretive analysis, and cerebrospinal fluid (CSF) collection for biomarker evaluation at baseline visit. Descriptive statistics and multivariate statistical modeling were employed to analyze NPC1 disease covariates, along with the American Speech-Language-Hearing Association National Outcome Measure (ASHA-NOMS) and the NIH Penetration Aspiration Scale (NIH-PAS).
RESULTS
Our cohort, comprised of 14 predominately female (n = 11, 78.6%) individuals, had an average age of 43.1 ± 16.7 years at the initial visit. Overall, our AO patients were able to swallow independently with no/minimal cueing, with 6 (43%) avoiding specific food items or requiring more time. Upon risk analysis of aspiration, the cohort demonstrated no obvious aspiration risk or laryngeal aspiration in 8 (57%), minimal risk with intermittent laryngeal penetration and retrograde excursion in 5(36%), and moderate risk (7%) in only one. Dietary modifications were recommended in 7 (50%), particularly for liquid viscosities (n = 6, 43%) rather than solids (n = 3, 21%). No significant correlations were identified between swallowing outcomes and NPC1-related parameters or CSF biomarkers.
CONCLUSION
Despite the heterogeneity in NPC1 presentation, the AO cohort displayed functional swallowing abilities with low aspiration risk with some participants still requiring some level of dietary modifications. This study emphasizes the importance of regular swallowing evaluations and management in AO NPC1 to address potential morbidities associated with dysphagia such as aspiration. These findings provide clinical recommendations for the assessment and management of the AO cohort, contributing to improved care for these individuals.
Topics: Humans; Niemann-Pick Disease, Type C; Female; Adult; Male; Deglutition; Deglutition Disorders; Middle Aged; Prospective Studies; Young Adult
PubMed: 38863022
DOI: 10.1186/s13023-024-03241-7 -
Acta Otorhinolaryngologica Italica :... Jun 2024The aims of this study was to analyse fibreoptic endoscopic evaluation of swallowing (FEES) findings in tube-fed patients with coronavirus disease 2019 (COVID-19).
OBJECTIVE
The aims of this study was to analyse fibreoptic endoscopic evaluation of swallowing (FEES) findings in tube-fed patients with coronavirus disease 2019 (COVID-19).
METHODS
Seventeen patients who had been intubated during intensive care unit (ICU) stay were enrolled. Pooling of secretions, dysphagia phenotype, penetration/aspiration and residue after swallow were assessed through FEES. The Functional Oral Intake Scale (FOIS) scores were also collected. Patients with significant swallowing impairment were evaluated again after 2 weeks.
RESULTS
All patients were tube-fed at enrollment. According to the FEES results, 7 started total oral feeding with at least one consistency. The more common dysphagia phenotypes were propulsive deficit and delayed pharyngeal phase. Pooling of secretions, penetration/aspiration, and residue after swallow were frequently documented. A significant improvement in FOIS scores was found during the second FEES examination.
CONCLUSIONS
Swallowing impairment in patients with severe COVID-19 after discharge from the ICU is characterised by propulsive deficit and delayed pharyngeal phase. Most of these patients required feeding restrictions even if feeding abilities seem to improve over time.
Topics: Humans; COVID-19; Deglutition Disorders; Male; Female; Middle Aged; Aged; Airway Extubation; Intensive Care Units; Enteral Nutrition; Fiber Optic Technology; Aged, 80 and over; Endoscopy; Adult
PubMed: 38859795
DOI: 10.14639/0392-100X-N2816 -
Scientific Reports Jun 2024The oral and suprahyoid muscles are responsible for movements of swallowing. Our study aimed to determine the reproducibility of static and dynamic measurements of these...
The oral and suprahyoid muscles are responsible for movements of swallowing. Our study aimed to determine the reproducibility of static and dynamic measurements of these muscles using bedside ultrasound equipment. Forty healthy participants were recruited prospectively. Primary outcomes were evaluation of mass measurements of the anterior bellies of the digastric, mylohyoid, geniohyoid and tongue in B-mode ultrasound. Secondary outcomes were evaluation of geniohyoid muscle layer thickness and function using M-mode. Muscle mass measurements demonstrated little within-participant variability. Coefficient of Variance (CoV) across muscles were: anterior belly digastric (5.0%), mylohyoid (8.7%), geniohyoid (5.0%) and tongue (3.2%). A relationship between sex (r = 0.131 p = 0.022) was demonstrated for the geniohyoid muscle, with males having higher transverse Cross Sectional Area (CSA) (14.3 ± 3.6 mm vs. 11.9 ± 2.5 mm, p = 0.002). Tongue size was correlated with weight (r = 0.356, p = 0.001), height (r = 0.156, p = 0.012) and sex (r = 0.196, p = 0.004). Resting thickness of the geniohyoid muscle layer changed with increasing bolus sizes (f = 3.898, p = 0.026). Velocity increased with bolus size (p = < 0.001, F = 8.974). However swallow time and slope distance did not, potentially influenced by higher coefficients of variation. Oral and suprahyoid muscle mass are easily assessed using bedside ultrasound. Ultrasound may provide new information about muscle mass and function during swallowing.
Topics: Humans; Male; Female; Deglutition; Ultrasonography; Adult; Tongue; Healthy Volunteers; Neck Muscles; Young Adult; Prospective Studies; Proof of Concept Study; Reproducibility of Results
PubMed: 38851791
DOI: 10.1038/s41598-024-62032-z -
BMC Pulmonary Medicine Jun 2024Post-reflux swallow-induced peristaltic wave index (PSPWI) and mean nocturnal baseline impedance (MNBI) are novel parameters reflect esophageal clearance capacity and...
INTRODUCTION
Post-reflux swallow-induced peristaltic wave index (PSPWI) and mean nocturnal baseline impedance (MNBI) are novel parameters reflect esophageal clearance capacity and mucosal integrity. They hold potential in aiding the recognition of gastroesophageal reflux-induced chronic cough (GERC). Our study aims to investigate their diagnostic value in GERC.
METHODS
This study included patients suspected GERC. General information and relevant laboratory examinations were collected, and final diagnosis were determined following guidelines for chronic cough. The parameters of multichannel intraluminal impedance-pH monitoring (MII-pH) in patients were analyzed and compared to explore their diagnostic value in GERC.
RESULTS
A total of 186 patients were enrolled in this study. The diagnostic value of PSPWI for GERC was significant, with the area under the working curve (AUC) of 0.757 and a cutoff value of 39.4%, which was not statistically different from that of acid exposure time (AET) (p > 0.05). The combined diagnostic value of AET > 4.4% and PSPWI < 39.4% was superior to using AET > 4.4% alone (p < 0.05). Additionally, MNBI and distal MNBI also contributed to the diagnosis of GERC, with AUC values of 0.639 and 0.624, respectively. AET > 4.4% or PSPWI < 39.4% is associated with a 44% reduction in missed diagnoses of non-acid GERC compared to AET > 6.0% or symptom association probability (SAP) ≥ 95%, and may be more favorable for identifying GERC.
CONCLUSION
The diagnostic value of PSPWI for GERC is comparable to that of AET. Combining PSPWI < 39.4% or AET > 4.4% can improve the diagnostic efficiency by reducing the risk of missed diagnoses in cases where non-acid reflux is predominant. Distal MNBI and MNBI can serve as secondary reference indices in the diagnosis of GERC.
Topics: Humans; Gastroesophageal Reflux; Male; Female; Middle Aged; Electric Impedance; Esophageal pH Monitoring; Cough; Peristalsis; Deglutition; Adult; Aged; Chronic Disease; Esophagus; ROC Curve; Area Under Curve
PubMed: 38840152
DOI: 10.1186/s12890-024-03080-z -
CoDAS 2024To analyze the correlation between swallowing, language and cognition performance and describe the sociodemographic data of elderly people without previous neurological...
PURPOSE
To analyze the correlation between swallowing, language and cognition performance and describe the sociodemographic data of elderly people without previous neurological disorders.
METHODS
Analytical cross-sectional study, with non-probabilistic sample for convenience and data collection by telecall. The aspiration screening test (Yale Swallow Protocol) was used to identify and exclude elderly people at risk of aspiration. Then, sociodemographic data were collected, and instruments were applied: activity of daily living (IADLs), risk of dysphagia (EAT-10), cognitive screening (Mini Mental State Examination - MMSE) and language (Montreal-Toulouse Language Battery - MTL-Brazil).
RESULTS
The sample consisted of 32 elderly people from the Federal District, with a mean age of 69.00±7.73 years and schooling of 10.00±5.60 years. The scores on the EAT-10, MMSE and MTL Battery instruments were altered in four, 22 and 26 elderly, respectively, indicating, in this case, risk of dysphagia, suggestion of cognitive alteration and language alteration. Regarding food, of the total sample, 13 seniors (40%) complained of needing modified food, as well as 10 of these also obtained MMSE scores suggestive of cognitive alteration. When comparing the groups with and without complaints and/or risk of dysphagia, there was no statistically significant difference in relation to sociodemographic, cognitive and language variables. Binary logistic regression models also showed no statistically significant results.
CONCLUSION
The present study, when correlating the swallowing, language and cognition findings, did not obtain statistically significant results. It was observed that the elderly with swallowing complaints also showed results suggestive of cognitive and language changes in the tests performed, but there was no statistically significant difference in relation to the elderly without complaints or swallowing changes.
Topics: Humans; Cross-Sectional Studies; Aged; Female; Male; Deglutition Disorders; Cognition; Brazil; Socioeconomic Factors; Deglutition; Aged, 80 and over; Middle Aged; Language; Activities of Daily Living; Mental Status and Dementia Tests; Geriatric Assessment; Neuropsychological Tests
PubMed: 38836826
DOI: 10.1590/2317-1782/20242022319pt -
CoDAS 2024To compare the ultrasound measurement of distance from the approximation of the hyoid bone during of the maximum deglutition peak between healthy individuals and...
To compare the ultrasound measurement of distance from the approximation of the hyoid bone during of the maximum deglutition peak between healthy individuals and neurogenic dysphagic individuals and to verify the effect of food consistencies on the displacement of the hyoid bone. Prospective, controlled clinical study. Ultrasound recordings of the oropharyngeal deglutition were conducted in 10 adults diagnosed with oropharyngeal dysphagia and in 10 healthy adults, matched by sex and age group. A portable ultrasound model Micro ultrasound system with a microconvex transducer 5-10 MHz, coupled to a computer as well as the head stabilizer were used. The ultrasound images were recorded using the AAA software (Articulate Assistant Advanced) at a rate of 120 frames/second. Food consistencies level 0 (free volume and 5 mL) and level 4 (5 mL) were used, based on the International Dysphagia Diet Standardisation Initiative (IDSSI). The calculation of the mean and standard deviation was used for the descriptive analysis, while the repeated measures ANOVA test was used for the inferential analysis. Results showed dysphagic individuals had lower elevation of the hyoid bone marked by a longer distance from the approximation of the hyoid bone during of the maximum deglutition peak when compared to healthy individuals, regardless of the food consistency offered. It was concluded that the ultrasound measurement of distance from the approximation of the hyoid bone during of the maximum deglutition peak showed less laryngeal elevation in individuals with neurogenic oropharyngeal dysphagia when compared to healthy individuals for all food consistencies offered.
Topics: Humans; Hyoid Bone; Deglutition Disorders; Male; Female; Prospective Studies; Ultrasonography; Middle Aged; Adult; Case-Control Studies; Deglutition; Aged
PubMed: 38836820
DOI: 10.1590/2317-1782/20242022074pt -
Frontiers in Nutrition 2024
PubMed: 38835957
DOI: 10.3389/fnut.2024.1416797 -
PloS One 2024Stroke patients with dysphagia and family caregivers will experience multiple transitions during the whole process of the disease and various nursing needs will be...
BACKGROUND
Stroke patients with dysphagia and family caregivers will experience multiple transitions during the whole process of the disease and various nursing needs will be generated. There is a lack of knowledge about their experiences at different transition stages. Thus, we aimed to explore the transition experiences of patients with post stroke dysphagia and family caregivers from admission to discharge home.
METHODS
A semi-structured interview based on Meleis's transition theory was used during hospitalization and telephone follow-up interviews were conducted in the first, third, and sixth month after the diagnosis of dysphagia. Interview transcripts were analyzed using the conventional content analysis method.
RESULTS
A total of 17 participants enrolled in the first face-to-face interview, 16 participants took part in the first month's telephone follow-up interview, 14 participants in the third month, and 12 participants in the sixth month. The transition experiences of patients with post stroke dysphagia and family caregivers could be summarized into three themes: (1)transition from onset to admission; (2)transition from discharge to other rehabilitation institutions; and (3)transition from discharge to home. Each theme had identified interrelated subthemes.
CONCLUSIONS
The experiences of patients with post stroke dysphagia and family caregivers during transition are a dynamic process with enormous challenges in each phase. Collaboration with health care professionals, follow-up support after discharge, and available community and social support should be integrated into transitional nursing to help patients facilitate their transition.
Topics: Humans; Deglutition Disorders; Male; Female; Caregivers; Stroke; Aged; Middle Aged; Qualitative Research; Longitudinal Studies; Patient Discharge; Stroke Rehabilitation; Aged, 80 and over; Adult
PubMed: 38833445
DOI: 10.1371/journal.pone.0304325 -
Italian Journal of Pediatrics Jun 2024Early infant feeding and swallowing are complex motor processes involving numerous muscles in coordination, e.g. the orofacial muscles as well as the muscles of the... (Review)
Review
Early infant feeding and swallowing are complex motor processes involving numerous muscles in coordination, e.g. the orofacial muscles as well as the muscles of the pharynx, larynx and esophagus. The newborn's reflexive drinking develops into the ability to ingest pureed complementary food as infancy progresses. Finally, in the last part of the first year of life, a differentiated eating, chewing and swallowing process develops allowing the voluntary intake of different foods of the family diet. The dietary schedule for the first year of life, which describes the recommended nutrition of infants in Germany, corresponds to these milestones in eating development. Disturbances in gross motor development, sensory processing issues, and organic and behavioral problems are known to interfere with the development of eating skills. Swallowing disorders (dysphagia) in children can have a detrimental effect on food intake and pose a serious risk to growth and development. Their prevention treatment requires a multidisciplinary approach with the aim of enabling the child to eat independently in the long term.
Topics: Humans; Infant; Child, Preschool; Child Development; Feeding Behavior; Deglutition Disorders; Eating; Infant, Newborn; Deglutition; Female; Male
PubMed: 38831369
DOI: 10.1186/s13052-024-01683-0 -
Annals of Rehabilitation Medicine Jun 2024To construct a prognostic model for unsuccessful removal of nasogastric tube (NGT) was the aim of our study.
OBJECTIVE
To construct a prognostic model for unsuccessful removal of nasogastric tube (NGT) was the aim of our study.
METHODS
This study examined patients with swallowing disorders receiving NGT feeding due to stroke or traumatic brain injury in a regional hospital. Clinical data was collected, such as age, sex, body mass index (BMI), level of activities of daily living (ADLs) dependence. Additionally, gather information regarding the enhancement in Functional Oral Intake Scale (FOIS) levels and the increase in food types according to the International Dysphagia Diet Standardization Initiative (IDDSI) after one month of swallowing training. A stepwise logistic regression analysis model was employed to predict NGT removal failure using these parameters.
RESULTS
Out of 203 patients, 53 patients (26.1%) had experienced a failed removal of NGT after six months of follow-up. The strongest predictors for failed removal were age over 60 years, underweight BMI, total dependence in ADLs, and ischemic stroke. The admission prediction model categorized patients into high, moderate, and low-risk groups for removal failure. The failure rate of NGT removal was high not only in the high-risk group but also in the moderate-risk groups when there was no improvement in FOIS levels and IDDSI food types.
CONCLUSION
Our predictive model categorizes patients with brain insults into risk groups for swallowing disorders, enabling advanced interventions such as percutaneous endoscopic gastrostomy for high-risk patients struggling with NGT removal, while follow-up assessments using FOIS and IDDSI aid in guiding rehabilitation decisions for those at moderate risk.
PubMed: 38830633
DOI: 10.5535/arm.230011