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1.
Annu Rev Neurosci ; 43: 315-336, 2020 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-32101484

RESUMO

All mammals must suckle and swallow at birth, and subsequently chew and swallow solid foods, for optimal growth and health. These initially innate behaviors depend critically upon coordinated development of the mouth, tongue, pharynx, and larynx as well as the cranial nerves that control these structures. Disrupted suckling, feeding, and swallowing from birth onward-perinatal dysphagia-is often associated with several neurodevelopmental disorders that subsequently alter complex behaviors. Apparently, a broad range of neurodevelopmental pathologic mechanisms also target oropharyngeal and cranial nerve differentiation. These aberrant mechanisms, including altered patterning, progenitor specification, and neurite growth, prefigure dysphagia and may then compromise circuits for additional behavioral capacities. Thus, perinatal dysphagia may be an early indicator of disrupted genetic and developmental programs that compromise neural circuits and yield a broad range of behavioral deficits in neurodevelopmental disorders.


Assuntos
Animais Lactentes/fisiologia , Transtornos de Deglutição/patologia , Rede Nervosa/fisiologia , Faringe/patologia , Animais , Comportamento/fisiologia , Deglutição/fisiologia , Transtornos de Deglutição/fisiopatologia , Humanos , Faringe/fisiologia
2.
J Physiol ; 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38517302

RESUMO

Swallowing is a complex process involving the precise contractions of numerous muscles of the head and neck, which act to process and shepherd ingested material from the oral cavity to its eventual destination, the stomach. Over the past five decades, information from animal and human studies has laid bare the complex network of neurones in the brainstem, cortex and cerebellum that are responsible for orchestrating each normal swallow. Amidst this complexity, problems can and often do occur that result in dysphagia, defined as impaired or disordered swallowing. Dysphagia is common, arising from multiple varied disease processes that can affect any of the neuromuscular structures involved in swallowing. Post-stroke dysphagia (PSD) remains the most prevalent and most commonly studied form of dysphagia and, as such, provides an important disease model to assess dysphagia physiology and pathophysiology. In this review, we explore the complex neuroanatomical processes that occur during normal swallowing and PSD. This includes how strokes cause dysphagia, the mechanisms through which natural neuroplastic recovery occurs, current treatments for patients with persistent dysphagia and emerging neuromodulatory treatments.

3.
Stroke ; 55(5): 1142-1150, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38511308

RESUMO

BACKGROUND: Nasogastric tube feeding (NG) has been widely used in patients with bulbar palsy after ischemic stroke but is associated with a significant risk of complications including malnutrition and pneumonia. Intermittent oro-esophageal tube feeding (IOE) can help alleviate these concerns. This study explored the clinical effect of IOE versus NG on nutritional status, swallowing function, stroke-associated pneumonia, and depression in patients with bulbar palsy after ischemic stroke. METHODS: This randomized controlled study included 148 patients with bulbar palsy after ischemic stroke who underwent routine treatment and swallowing rehabilitation training in the Department of Rehabilitation Medicine between July 2017 and July 2019 in China. The participants were randomly divided into the IOE group (n=74) and NG group (n=74) with IOE and NG as nutritional supports, respectively. The primary outcome was nutritional status including (1) body mass index (kg/m2), (2) serum ALB (albumin, g/L), and (3) PA (prealbumin, mg/L). The secondary outcomes were (1) swallowing function including (i) Functional Oral Intake Scale (FOIS) and (ii) Penetration-Aspiration Scale, (2) pneumonia, (3) depression, and (4) adverse events. Statistical analyses for continuous outcomes were performed using t test, Mann-Whitney U test and Wilcoxon signed-rank test and categorical variables using χ2 test. SPSS 21.0 was used for all analysis. RESULTS: There were no significant baseline differences between the 2 groups. After the treatment, the IOE group demonstrated significantly better results compared with the NG group in ALB ([32.71±0.94] versus [32.28±0.81] g/L; P=0.003), PA ([278.15±13.81] versus [270.31±15.08] mg/L; P=0.001], body mass index ([19.77±1.03] versus [19.41±0.98] kg/m2; P=0.002], FOIS (P<0.001), Penetration-Aspiration Scale (P<0.001), stroke-associated pneumonia ([1, 4.05%] versus [26, 35.14%]; P<0.001), depression ([1, 1.35%] versus [44, 59.46%]; P<0.001) and overall less adverse events (reflux, fever, discomfort in the throat; P<0.001). CONCLUSIONS: In patients with dysphagia with bulbar palsy after ischemic stroke who received routine treatment and swallowing rehabilitation training, IOE is safer and more conducive to the improvement of nutritional status, swallowing function, stroke-associated pneumonia, and depression than NG. REGISTRATION: URL: https://www.chictr.org.cn; Unique identifier: ChiCTR-INC-17011741.

4.
Physiology (Bethesda) ; 38(1): 0, 2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-35998250

RESUMO

Despite centuries of investigation, questions and controversies remain regarding the fundamental genesis and motor pattern of swallow. Two significant topics include inspiratory muscle activity during swallow (Schluckatmung, i.e., "swallow-breath") and anatomical boundaries of the swallow pattern generator. We discuss the long history of reports regarding the presence or absence of Schluckatmung and the possible advantages of and neural basis for such activity, leading to current theories and novel experimental directions.


Assuntos
Deglutição , Sistema Respiratório , Humanos , Deglutição/fisiologia
5.
Neurogenetics ; 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38652341

RESUMO

Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmission and providing substrates for protein biosynthesis. They also take part in nontranslational functions, mediated by the presence of other proteins domains. Mutations in ARS genes have been described as responsive to numerous factors, including neurological, autoimmune, and oncological. Variants of the ARS genes, both in heterozygosity and homozygosity, have been reported to be responsible for different pathological pictures in humankind. We present the case of a patient referred in infancy for failure to thrive and acquired microcephaly (head circumference: -5 SD). During follow-up we highlighted: dysphagia (which became increasingly severe until it became incompatible with oral feeding, with gastrostomy implantation, resulting in resolution of feeding difficulties), strabismus, hypotonia. NCV (Nerve Conduction Velocity) showed four limbs neuropathy, neurophysiological examination performed at 2 years of age mainly sensory and demyelinating. Exome sequencing (ES) was performed, detecting two novel compound heterozygous variants in the NARS1 gene (OMIM *108410): NM_004539:c.[662 A > G]; [1155dup], p.[(Asn221Ser)]; [(Arg386Thrfs*19)], inherited from mother and father respectively. In this article, we would like to focus on the presence of progressive dysphagia and severe neurodevelopmental disorder, associated with two novel variants in the NARS1 gene.

6.
Int J Cancer ; 155(4): 731-741, 2024 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-38556848

RESUMO

Patients treated for oral cancer, may experience restricted mouth opening (trismus). Barriers such as cost have limited the utilization of traditional jaw stretching devices, and consequently, patients experience problems with swallowing, oral care, communication, and cancer surveillance. The safety and efficacy of Restorabite™, a new device designed to overcome these barriers, is evaluated prospectively over 12 months. This phase II investigator-led trial included patients with chronic trismus underwent 10-weeks of trismus therapy using Restorabite™. Safety, adherence, changes in mouth opening, and patient-reported outcomes are presented. 114/120 participants with trismus completed the intervention, and 104 had their progress monitored for 12 months. Thirteen participants withdrew due to tumour recurrence. At the completion of the intervention, mouth opening improved by 10.4 mm (p < .001). This increased to 13.7 mm at 12 months (p < .001). Patient reported outcome all significantly improved and 47 participants were no longer classified as having trismus. There were no serious treatment related adverse events. In patients with trismus following head and neck cancer treatment, a 10-week programme of jaw stretching exercises using Restorbite™ safely improves mouth opening and associated quality of life outcomes with high adherence and the benefits are maintained for 12-months.


Assuntos
Neoplasias de Cabeça e Pescoço , Trismo , Humanos , Trismo/etiologia , Trismo/terapia , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Neoplasias de Cabeça e Pescoço/complicações , Neoplasias de Cabeça e Pescoço/terapia , Adulto , Estudos Prospectivos , Exercícios de Alongamento Muscular , Arcada Osseodentária , Resultado do Tratamento , Idoso de 80 Anos ou mais , Qualidade de Vida , Medidas de Resultados Relatados pelo Paciente
7.
Artigo em Inglês | MEDLINE | ID: mdl-38953836

RESUMO

BACKGROUND: Our prior study reveal that the distension-contraction profiles using high-resolution manometry impedance (HRMZ) recordings can distinguish patients with dysphagia symptom but normal esophageal function testing ("functional dysphagia") from controls. AIMS: To determine the diagnostic value of the recording protocol used in our prior studies (10cc swallows with subjects in the Trendelenburg position) against the standard clinical protocol (5cc swallows with subject in the supine position). We used advanced machine learning techniques and robust metrics for the classification purposes. METHODS: Studies were performed in 30 healthy subjects and 30 patients with functional dysphagia. A custom-built software was used to extract the relevant distension-contraction features of esophageal peristalsis. Ensemble methods, i.e., gradient boost, support vector machines (SVM), and logit boost were used as the primary machine learning algorithms. RESULTS: While the individual contraction features were marginally different between the two groups, the distension features of peristalsis were significantly different. The ROC curves values for the standard recording protocol, for the distension features ranged from 0.74 to 0.82; they were significantly better for the protocol used in our prior studies, ranged from 0.81-0.91. The ROC curve values using 3 machine learning algorithms were far superior for the distension than the contraction features of esophageal peristalsis, revealing value of 0.95 for the SVM algorithm. CONCLUSIONS: Current patient classification based on the contraction phase of peristalsis misses large number of patients who have abnormality in the distension phase of peristalsis. Distension contraction plots should be the standard of assessing esophageal peristalsis in clinical practice.

8.
Gastroenterology ; 165(3): 552-563.e4, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37263308

RESUMO

BACKGROUND & AIMS: Eosinophilic esophagitis (EoE) is characterized by eosinophilic inflammation, but also heterogeneous presentations involving fibrostenotic esophageal remodeling and esophageal dysmotility. We aimed to define and evaluate phenotypes of EoE using functional lumen imaging probe (FLIP) panometry (ie, a PhysioMechanical classification of EoE). METHODS: Patients with EoE who completed FLIP during endoscopy were included in a cross-sectional study. FLIP studies were analyzed for distensibility plateau and compliance of the esophageal body, maximum esophagogastric junction diameter, and contractile response pattern. These FLIP features were then applied to define PhysioMechanical classifications. RESULTS: A total of 215 patients with EoE (mean [standard deviation] age 38 [12] years; 31% female) were included. Seven PhysioMechanical classifications were identified that differed by various clinical characteristics, including symptom duration (P < .001) and Endoscopic EoE Reference Scores (EREFS) (P < .001). In particular, patients with "nonreactive fibrostenosis" (n = 14), had greater symptom duration (median [interquartile range] 20 [10-30] years) and more frequently had EREFS grade 2 or 3 ring scores (14 of 14 patients) than patients with a "normal" PhysioMechanical classification (symptom duration: 3 [1-8] years; 4 of 50 [8%] had EREFS grade 2 or 3 rings). In addition, among patients off treatment at cross-sectional evaluation (n = 46), there was a difference between PhysioMechanical classifications in future proton pump inhibitor (PPI) response rates (ie, achieving peak mucosal eosinophil count <15 per high-powered field after PPI treatment); P = .009. PPI response ranged from 87% (13 of 15 patients) with "isolated esophagogastric junction outflow obstruction" to 11% (1 of 9 patients) with "spastic-reactive fibrostenosis." CONCLUSIONS: Classifying PhysioMechanical esophageal function in EoE based on FLIP panometry features may facilitate defining disease severity and directing management in EoE.


Assuntos
Esofagite Eosinofílica , Transtornos da Motilidade Esofágica , Feminino , Masculino , Humanos , Esofagite Eosinofílica/terapia , Esofagite Eosinofílica/tratamento farmacológico , Estudos Transversais , Endoscopia Gastrointestinal
9.
Clin Gastroenterol Hepatol ; 22(3): 513-522.e1, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37164112

RESUMO

BACKGROUND & AIMS: Chronic inflammation of eosinophilic esophagitis (EoE) results in progressive, fibrostenotic remodeling of the esophageal wall. This study aimed to demonstrate objective changes in esophageal distensibility relative to duration of EoE disease using a functional lumen imaging probe (FLIP). METHODS: Adult patients with EoE who completed a 16-cm FLIP protocol during endoscopy were evaluated in a cross-sectional study. FLIP analysis focused on distensibility plateau (DP) of the esophageal body. The time from onset of symptoms to time of endoscopy with FLIP was assessed, as was time from symptom onset to EoE diagnosis (ie, diagnostic delay). RESULTS: A total of 171 patients (mean age 38 ± 12 years; 31% female) were included; the median symptom duration was 8 (interquartile range, 3-15) years and diagnostic delay was 4 (interquartile range, 1-12) years. At the time of endoscopy with FLIP, there were 54 patients (39%) in histologic remission (<15 eosinophils per high-power field [eos/hpf]). Symptom duration and diagnostic delay were negatively correlated with DP (rho = -0.326 and -0.309; P values < .001). Abnormal esophageal distensibility (DP ≤17 mm) was more prevalent with increased duration of symptoms (P < .004): 23% at <5 years to 64% at ≥25 years. When stratifying the cohort based on mucosal eosinophil density, patients with ≥15 eos/hpf had significantly lower DP with greater symptom duration (P = .004), while there was not a significant difference among patients with <15 eos/hpf (P = .060). CONCLUSIONS: Esophageal distensibility objectively measured with FLIP was reduced in EoE patients with greater symptom duration and diagnostic delay. This supports that EoE is a progressive, fibrostenotic disease and that FLIP may be a useful tool to monitor disease progression in EoE.


Assuntos
Enterite , Eosinofilia , Esofagite Eosinofílica , Gastrite , Adulto , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Esofagite Eosinofílica/patologia , Estudos Transversais , Diagnóstico Tardio , Endoscopia Gastrointestinal
10.
Mol Genet Metab ; 142(3): 108510, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38843620

RESUMO

BACKGROUND: Information about dysarthria and dysphagia in mitochondrial diseases (MD) is scarce. However, this knowledge is needed to identify speech and swallowing problems early, to monitor the disease course, and to develop and offer optimal treatment and support. This study therefore aims to examine the prevalence and severity of dysarthria and dysphagia in patients with MD and its relation to clinical phenotype and disease severity. Secondary aim is to determine clinically relevant outcome measures for natural history studies and clinical trials. METHODS: This retrospective cross-sectional medical record study includes adults (age ≥ 18 years) diagnosed with genetically confirmed MD who participated in a multidisciplinary admission within the Radboud center for mitochondrial medicine between January 2015 and April 2023. Dysarthria and dysphagia were examined by administering the Radboud dysarthria assessment, swallowing speed, dysphagia limit, test of mastication and swallowing solids (TOMASS), and 6-min mastication test (6MMT). The disease severity was assessed using the Newcastle mitochondrial disease scale for adults (NMDAS). RESULTS: The study included 224 patients with MD with a median age of 42 years of whom 37.5% were male. The pooled prevalence of dysarthria was 33.8% and of dysphagia 35%. Patients with MD showed a negative deviation from the norm on swallowing speed, TOMASS (total time) and the 6MMT. Furthermore, a significant moderate relation was found between the presence of dysarthria and the clinical phenotypes. There was a statistically significant difference in total time on the TOMASS between the clinical phenotypes. Finally, disease severity showed a significant moderate relation with the severity of dysarthria and a significant weak relation with the severity of dysphagia. CONCLUSION: Dysarthria and dysphagia occur in about one-third of patients with MD. It is important for treating physicians to pay attention to this subject because of the influence of both disorders on social participation and wellbeing. Referral to a speech and language therapist should therefore be considered, especially in patients with a more severe clinical phenotype. The swallowing speed, TOMASS and 6MMT are the most clinically relevant tests to administer.


Assuntos
Transtornos de Deglutição , Disartria , Doenças Mitocondriais , Humanos , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Disartria/etiologia , Disartria/fisiopatologia , Masculino , Feminino , Doenças Mitocondriais/complicações , Doenças Mitocondriais/fisiopatologia , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Estudos Transversais , Idoso , Índice de Gravidade de Doença , Prevalência , Deglutição , Adulto Jovem , Fenótipo
11.
J Pediatr ; 272: 114128, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38815745

RESUMO

OBJECTIVE: To determine associations between presenting symptoms and oropharyngeal dysphagia diagnoses, gastroesophageal reflux disease (GERD) diagnoses, and treatment with acid suppression medication in infants with brief resolved unexplained event (BRUE). STUDY DESIGN: We performed a prospective cohort study of infants with BRUE to review presenting symptoms and their potential impact on testing and treatment. Videofluoroscopic swallow study (VFSS) results and explanatory diagnoses were obtained from medical record review; acid suppression use was determined by parental survey. Binary and multivariable logistic regression models were used to evaluate associations between presenting symptoms and obtaining VFSS, VFSS results, GERD diagnoses, and acid suppression medication. RESULTS: Presenting symptoms were varied in 157 subjects enrolled at 51.0 ± 5.3 days of age, with many symptoms that may be related to GERD or dysphagia. Of these, 28% underwent VFSS with 71% abnormal. Overall, 42% had their BRUE attributed to GERD, and 33% were treated with acid suppression during follow-up. Presenting symptoms were significantly associated with the decision to obtain VFSS but not with abnormal VFSS results. Presenting symptoms were also associated with provision of GERD explanatory diagnoses. Both presenting symptoms and GERD explanatory diagnoses were associated with acid suppression use (aOR 2.3, 95% CI 1.03-5.3, P = .04). CONCLUSIONS: Presenting symptoms may play a role in clinicians' decisions on which BRUE patients undergo VFSS but are unreliable to make a diagnosis of oropharyngeal dysphagia. Presenting symptoms may also influence assignment of GERD explanatory diagnoses that is associated with increased acid suppression medication use.

12.
Strahlenther Onkol ; 200(7): 583-594, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38381142

RESUMO

BACKGROUND AND OBJECTIVE: Data on enteral tube feeding in head and neck cancer (HNC) patients undergoing chemoradiotherapy vary considerably between German institutions. This survey aims to investigate the management of feeding tubes in an interdisciplinary context across Germany. MATERIALS AND METHODS: Between December 2022 and May 2023, 70 participants (42 radiation oncologists, 12 medical oncologists, 14 head and neck surgeons, and 2 physicians covering several specialties) responded to our web-based survey. In addition to the type of institution (university hospital, private practice, etc.), their age, and professional experience (in years), participants were asked several questions on the indication and institutional policy for tube placement and management (prophylactic/reactive nasogastric or gastrostomy tube). All questions were mandatory single- or multiple-choice questions, while additional comments were possible by email. RESULTS: Most participants were employed at a university hospital (n = 52; 74.3%) and came from a radiation oncology background (n = 42; 60%). Fifty-four contributors (77.1%) reported that no nutritional risk screening prior to chemoradiotherapy was routinely performed, and 71.4% (n = 50) stated that no standardized protocol was used at the institution to set the indication for tube placement. Generally, policies and methods of tube feeding vary considerably between the individual institutions and specialties. However, the majority (n = 56, 80%) recommended a prophylactic percutaneous enteral gastrostomy (PEG) tube to their patients before chemoradiotherapy. Still, there was no consistent trend regarding the approach for reactive tube feeding. CONCLUSION: The policies and methods of tube feeding vary considerably between the individual institutions and specialties in Germany. In the era of individualized medicine, uniform protocols are difficult to establish. However, a baseline nutritional risk screening could simplify decision-making in clinical practice.


Assuntos
Quimiorradioterapia , Nutrição Enteral , Gastrostomia , Neoplasias de Cabeça e Pescoço , Intubação Gastrointestinal , Humanos , Alemanha , Neoplasias de Cabeça e Pescoço/terapia , Masculino , Inquéritos e Questionários , Padrões de Prática Médica/estatística & dados numéricos , Feminino , Pesquisas sobre Atenção à Saúde , Comunicação Interdisciplinar , Pessoa de Meia-Idade , Radio-Oncologistas
13.
BMC Cancer ; 24(1): 648, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38802747

RESUMO

BACKGROUND: This study aimed to assess the long-term effect of level IIb clinical target volume (CTV) optimisation on survival, xerostomia, and dysphagia in patients with nasopharyngeal carcinoma (NPC). METHODS: Clinical data of 415 patients with NPC treated with intensity-modulated radiotherapy between December 2014 and October 2018 were retrospectively analysed. The patients were categorised into modified and comparison groups. Late xerostomia and dysphagia were evaluated using Radiation Therapy Oncology Group/European Organisation for Research and Treatment of Cancer scoring. Survival analysis was performed using the Kaplan-Meier method. Differences in late toxicity and dose parameters between both groups were compared. Prognostic factors for survival and late toxicity were assessed using regression analyses. RESULTS: Patients in the modified group developed late xerostomia and dysphagia less frequently than those in the comparison group did (P < 0.001). The mean dose (Dmean) and V26 of parotid glands; Dmean and V39 of submandibular glands; and Dmean of sublingual glands, oral cavity, larynx, and superior, middle, and lower pharyngeal constrictor muscles were lower in the modified group than those in the comparison group (all P < 0.001). Both groups had no significant differences in overall, local recurrence-free, distant metastasis-free, or progression-free survival. The Dmean of the parotid and sublingual glands was a risk factor for xerostomia. The Dmean of the parotid and sublingual glands and middle pharyngeal constrictor muscle was a risk factor for dysphagia. CONCLUSIONS: Level IIb optimisation in NPC patients who meet certain criteria specially the exclusion of positive retropharyngeal nodes treated with intensity-modulated radiotherapy has the potential to better protect the salivary and swallowing structures, decreasing the development of late radiation-induced xerostomia and dysphagia while maintaining long-term survival.


Assuntos
Transtornos de Deglutição , Carcinoma Nasofaríngeo , Neoplasias Nasofaríngeas , Radioterapia de Intensidade Modulada , Xerostomia , Humanos , Transtornos de Deglutição/etiologia , Masculino , Xerostomia/etiologia , Feminino , Carcinoma Nasofaríngeo/radioterapia , Carcinoma Nasofaríngeo/complicações , Carcinoma Nasofaríngeo/patologia , Pessoa de Meia-Idade , Radioterapia de Intensidade Modulada/efeitos adversos , Radioterapia de Intensidade Modulada/métodos , Estudos Retrospectivos , Seguimentos , Neoplasias Nasofaríngeas/radioterapia , Neoplasias Nasofaríngeas/complicações , Adulto , Idoso , Lesões por Radiação/etiologia , Lesões por Radiação/prevenção & controle , Deglutição , Glândulas Salivares/efeitos da radiação , Glândulas Salivares/patologia , Glândulas Salivares/diagnóstico por imagem , Dosagem Radioterapêutica , Prognóstico , Adulto Jovem
14.
Am J Med Genet A ; 194(8): e63634, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38619072

RESUMO

Feeding difficulties, aspiration, and failure to thrive in infancy are commonly seen in patients with Prader-Willi Syndrome (PWS) and attributed to hypotonia. Patients with PWS and laryngeal clefts were identified by review of medical records at three tertiary care children's hospitals between 2017 and 2022. We present three patients with PWS with feeding difficulties who were also found to have laryngeal clefts which likely contributed to their feeding difficulties. Additional factors such as airway anomalies should be considered in patients with PWS, especially when swallowing dysfunction, dysphagia, or abnormal swallow evaluations are present.


Assuntos
Laringe , Hipotonia Muscular , Síndrome de Prader-Willi , Humanos , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/patologia , Hipotonia Muscular/genética , Hipotonia Muscular/patologia , Feminino , Masculino , Lactente , Laringe/anormalidades , Laringe/patologia , Laringe/fisiopatologia , Pré-Escolar , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/diagnóstico , Anormalidades Congênitas
15.
Neuroepidemiology ; : 1-11, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38718760

RESUMO

INTRODUCTION: Dysphagia (i.e., disordered swallowing) is a consequence of stroke. Existing literature on the marginal cost of dysphagia after stroke is limited and ignores long-term impacts. Our aim was to determine the marginal 12-month cost attributable to dysphagia, including health-related quality of life (HRQoL) impacts, among patients hospitalised with stroke in New Zealand. METHODS: Secondary analysis of observational data from the REGIONS Care study, a national study from New Zealand of consecutively hospitalised patients with acute stroke between May 1, 2018, and October 30, 2018, including an outcome survey at 12 months among those who provided consent. Patients were identified as dysphagic if they received a swallow screen in hospital resulting in a speech language therapist review. Patients that required a nasogastric feeding tube in hospital were classified as "severe." Optimal linear propensity score matching was utilised to provide a group of patients to compare with stroke and dysphagia. All costs were converted to 2021NZD. RESULTS: Overall, of the 2,379 patients in the REGIONS cohort (51% male, median age: 78), 40% (944/2,379) were dysphagic (52% male, median age: 78), and 5% (111/2,379) were classified as severely dysphagic. Within 12 months of hospital discharge, dysphagia reduced HRQoL overall by 0.06 index points (95% CI: 0.028-0.100), and severe dysphagia by 0.12 index points (95% CI: 0.03-0.20). The estimated marginal 12-month cost attributable to stroke-related dysphagia was NZD 24,200 on average per patient. This estimate includes the additional hospitalisation costs (NZD 16,100), community rehabilitation services (NZD 570), hospital level aged residential care (NZD 4,030), and reduced HRQoL (NZD 3,470) over a 12-month period post-hospital discharge. The overall total marginal cost for those with severe dysphagia was NZD 34,000 per patient. CONCLUSION: We report cost estimates to 12 months from a national perspective on the additional costs and HRQoL outcomes of dysphagia for people hospitalised with stroke in New Zealand. Findings provide a novel contribution internationally since few prior studies have extended beyond the acute hospital phase of care. By quantifying the economic burden, we provide information to decision makers to improve dysphagia management strategies and ultimately enhance the overall HRQoL for people with stroke and dysphagia.

16.
Epilepsia ; 65(5): 1374-1382, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38456606

RESUMO

OBJECTIVE: Seizures can cause transient neurological symptoms, such as hemiparesis and aphasia. However, temporary swallowing changes leading to postictal dysphagia have not been previously described. Therefore, this study evaluated the presence of swallowing disorders following seizure. In addition, dysphagia severity and duration of any recovery from dysphagic symptoms were investigated. METHODS: The local clinical database of all fiberoptic endoscopic evaluation of swallowing (FEES) examinations performed from 2008 to 2019 was screened for patients diagnosed with seizures, but excluding patients with intensive care unit admission or intubation >24 h. Patient charts were evaluated to identify preexisting dysphagia or potential concurrent medical causes for dysphagia, including hyponatremia, increased intracranial pressure, sepsis, or other encephalopathies associated with infections, or other possible causes at the time of admission. Patients receiving >.5 defined daily doses of benzodiazepines or neuroleptics were also excluded. Age, sex, seizure semiology and etiology, comorbidities, concurrent pneumonia, and dysphagia course during hospitalization were evaluated as predictors of the occurrence of dysphagia or its potential duration. RESULTS: We identified 41 patients with dysphagia following a seizure, without evidence of any concurrent cause of swallowing dysfunction. These patients all presented with focal structural epilepsy, they had a mean age of 79 ± 11.3 years (range = 44-95 years), and 21 were women. The mean Elixhauser Comorbidity Score was 4.8. Hospital-acquired pneumonia was detected in 21 patients (51.2%). FEES diagnosed mild and severe dysphagia in 21 (51.2%) and 20 (48.8%) patients, respectively. Dysphagia improved significantly (p = .001) during hospitalization, persisting for an average of 3.9 days (median = 3 days, SD = 2.07 days, range = 1-8 days). SIGNIFICANCE: Dysphagia is a potential transient neurological deficit following seizure. Our findings suggest that older patients, with focal structural epilepsy, are at risk for postictal dysphagia. Further studies are needed to ascertain the prevalence, complications, and predictors of postictal dysphagia. Dysphagia screening may improve early detection in patients with relevant risk factors, as well as reduce the occurrence of aspiration pneumonia.


Assuntos
Transtornos de Deglutição , Humanos , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/diagnóstico , Feminino , Masculino , Idoso , Idoso de 80 Anos ou mais , Pessoa de Meia-Idade , Adulto , Epilepsias Parciais/complicações , Convulsões/complicações , Convulsões/epidemiologia , Convulsões/diagnóstico , Estudos Retrospectivos
17.
Muscle Nerve ; 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38887944

RESUMO

INTRODUCTION/AIMS: Objective and practical biomarkers to determine the need for gastrostomy in patients with amyotrophic lateral sclerosis (ALS) are lacking. Tongue pressure (TP) is a promising biomarker because it is associated with bulbar dysfunction. The aims of this study were to evaluate the association of TP with the need for gastrostomy, and to determine its optimal cut-off value. METHODS: This prospective observational study included participants with ALS taking nutrition orally. TP was evaluated using the Iowa Oral Performance Instrument. Need for gastrostomy as determined by a multidisciplinary team during a 12-month follow up period was recorded. Associations between TP and need for gastrostomy placement were performed. ROC curve analysis determined the optimal cut-off value of TP to predict gastrostomy. RESULTS: Of 208 screened participants, 119 were included. Gastrostomy was indicated in 45% (53), in a 12-month follow up period. TP of ≤20 kPA was a strong predictor of gastrostomy indication (OR 11.8, CI 95% [4.61, 34.7], p < .001). The association persisted even after adjustment for weight loss, pneumonia, prolonged feeding duration, Revised ALS Functional Rating Scale score, and American Speech-Language-Hearing Association scale score (OR 4.51, CI 95% [1.50, 14.9], p = .009). By receiver operating characteristic curve analysis, 20 kPA represented the optimal cut-off value (sensitivity 0.75, specificity 0.89). DISCUSSION: TP is a strong independent predictor of gastrostomy indication in the subsequent 12 months in patients with ALS, with good sensitivity and specificity at a cutoff value of ≤20 kPA, suggesting that it may be a promising biomarker in clinical practice.

18.
Muscle Nerve ; 70(1): 140-147, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38742544

RESUMO

INTRODUCTION/AIMS: Evaluations of pulmonary, cough, and swallow function are frequently performed to assess disease progression in amyotrophic lateral sclerosis (ALS), yet the relationship between these functions remains unknown. We therefore aimed to determine relationships between these measures in individuals with ALS. METHODS: One hundred individuals with ALS underwent standardized tests: forced vital capacity (FVC), maximum expiratory/inspiratory pressure (MEP, MIP), voluntary cough peak expiratory flow (PEF), and videofluoroscopic swallow evaluation (VF). Duplicate raters completed independent, blinded ratings using the Dynamic Imaging Grade of Swallowing Toxicity (DIGEST) scale. Descriptives, Spearman's Rho correlations, Kruskal-Wallis analyses, and Pearson's chi-squared tests were completed. RESULTS: Mean and standard deviation across pulmonary and cough measures were FVC: 74.2% predicted (± 22.6), MEP: 91.6 cmH2O (± 46.4), MIP cmH2O: 61.1 (± 28.9), voluntary PEF: 352.7 L/min (± 141.6). DIGEST grades included: 0 (normal swallowing): 31%, 1 (mild dysphagia): 48%, 2 (moderate dysphagia): 10%, 3 (severe dysphagia): 10%, and 4 (life-threatening dysphagia): 1%. Positive correlations were observed: MEP-MIP: r = .76, MIP-PEF: r = .68, MEP-PEF: r = .61, MIP-FVC: r = .60, PEF-FVC: r = .49, and MEP-FVC: r = .46, p < .0001. MEP (p = .009) and PEF (p = .04) differed across DIGEST safety grades. Post hoc analyses revealed significant between group differences in MEP and PEF across DIGEST safety grades 0 versus 1 and grades 0 versus 3, (p < .05). DISCUSSION: In this cohort of individuals with ALS, pulmonary function, and voluntary cough were associated. Expiratory metrics (MEP, PEF) were diminished in individuals with unsafe swallowing, increasing their risk for effectively defending the airway.


Assuntos
Esclerose Lateral Amiotrófica , Tosse , Transtornos de Deglutição , Deglutição , Humanos , Esclerose Lateral Amiotrófica/fisiopatologia , Esclerose Lateral Amiotrófica/complicações , Masculino , Tosse/fisiopatologia , Tosse/etiologia , Feminino , Pessoa de Meia-Idade , Idoso , Deglutição/fisiologia , Transtornos de Deglutição/fisiopatologia , Transtornos de Deglutição/etiologia , Capacidade Vital/fisiologia , Adulto , Pulmão/fisiopatologia , Pulmão/diagnóstico por imagem , Fluoroscopia , Testes de Função Respiratória
19.
Crit Rev Food Sci Nutr ; : 1-25, 2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38556920

RESUMO

The global aging population has brought about a pressing health concern: dysphagia. To effectively address this issue, we must develop specialized diets, such as thickened fluids made with polysaccharide-dextrin (e.g., water, milk, juices, and soups), which are crucial for managing swallowing-related problems like aspiration and choking for people with dysphagia. Understanding the flow behaviors of these thickened fluids is paramount, and it enables us to establish methods for evaluating their suitability for individuals with dysphagia. This review focuses on the shear and extensional flow properties (e.g., viscosity, yield stress, and viscoelasticity) and tribology (e.g., coefficient of friction) of polysaccharide-dextrin-based thickened fluids and highlights how dextrin inclusion influences fluid flow behaviors considering molecular interactions and chain dynamics. The flow behaviors can be integrated into the development of diverse evaluation methods that assess aspects such as flow velocity, risk of aspiration, and remaining fluid volume. In this context, the key in-vivo (e.g., clinical examination and animal model), in-vitro (e.g., the Cambridge Throat), and in-silico (e.g., Hamiltonian moving particles semi-implicit) evaluation methods are summarized. In addition, we explore the potential for establishing realistic assessment methods to evaluate the swallowing performance of thickened fluids, offering promising prospects for the future.

20.
Stat Med ; 2024 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-38853284

RESUMO

Dysphagia, a common result of other medical conditions, is caused by malfunctions in swallowing physiology resulting in difficulty eating and drinking. The Modified Barium Swallow Study (MBSS), the most commonly used diagnostic tool for evaluating dysphagia, can be assessed using the Modified Barium Swallow Impairment Profile (MBSImP™). The MBSImP assessment tool consists of a hierarchical grouped data structure with multiple domains, a set of components within each domain which characterize specific swallowing physiologies, and a set of tasks scored on a discrete scale within each component. We lack sophisticated approaches to extract patterns of physiologic swallowing impairment from the MBSImP task scores within a component while still recognizing the nested structure of components within a domain. We propose a Bayesian hierarchical profile regression model, which uses a Bayesian profile regression model in conjunction with a hierarchical Dirichlet process mixture model to (1) cluster subjects into impairment profile patterns while respecting the hierarchical grouped data structure of the MBSImP, and (2) simultaneously determine associations between latent profile cluster membership for all components and the outcome of dysphagia severity. We apply our approach to a cohort of patients referred for an MBSS and assessed using the MBSImP. Our research results can be used to inform appropriate intervention strategies, and provide tools for clinicians to make better multidimensional management and treatment decisions for patients with dysphagia.

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