Dysphagia and its impact on quality of life in rare neuromuscular disorders

Arquivos de Neuro-Psiquiatria, Journal Year: 2025, Volume and Issue: 83(02), P. 001 - 006

Published: Feb. 1, 2025

Abstract Background Patients with neuromuscular diseases (NMDs) often face swallowing difficulties (dysphagia) as part of their condition. Objective To determine the prevalence self-reported disorders in patients rare NMDs and examine correlation related quality life (QoL). Methods The study included 103 confirmed NMDs. Dysphagia risk was assessed using validated Eating Assessment Tool-10 (EAT-10), QoL to measured SWAL-QoL survey. Correlations between EAT-10 scores were analyzed. Additionally, mean questionnaire compared among classified dysphagic, dysphagic high aspiration risk, nondysphagic. Results estimated dysphagia cohort, based on EAT-10, 52.4%. Higher significantly correlated poorer swallowing-related QoL, except for sleep domain. most affected domains burden, eating desire, duration, food selection, communication, fear, mental health, social functioning, battery score (DBS), significant differences observed classifications (p < 0.001 domains, p = 0.015 desire). No statistically difference found sitters walkers. Conclusion is a prevalent symptom NMDs, affecting 52.4% cohort impacting nearly all sleep.

Language: Английский

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Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom

Journal of Neuromuscular Diseases, Journal Year: 2024, Volume and Issue: 11(2), P. 389 - 410

Published: Jan. 16, 2024

Background: Dysphagia is common in adults living with neuromuscular disease (NMD). Increased life expectancy, secondary to improvements standards of care, requires the recognition and treatment dysphagia an increased priority. Evidence support establishment healthcare pathways is, however, lacking. The experiences people NMD (pplwNMD) their caregivers are valuable guide targeted, value-based healthcare. Objective: To generate preliminary considerations for care future research United Kingdom, based on those with, or caring for, NMD. Methods: Two surveys (one dysphagia, a second caregivers) were co-designed advisory group Surveys electronically distributed between 18th May 26th July 2020. Distribution was through UK registries, charity websites, newsletters, social media. Results: Adults receive little information education that they likely develop swallowing difficulties. Most respondents report wanting this prior developing these Difficulties food medication group, instrumental assessment considered helpful tool. Both want earlier access specialists training how best manage Conclusions: Improvement needed pathway help mitigate any profound physical psychological consequences may be caused by dysphagia. Education about difficulties early referral specialist important pplwNMD caregivers. Further required better understand inform development pathways.

Language: Английский

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Best practice recommendations for speech-language pathology in children with neuromuscular disorders: A Delphi-based consensus study

International Journal of Speech-Language Pathology, Journal Year: 2023, Volume and Issue: 26(1), P. 45 - 58

Published: March 10, 2023

Purpose: Speech-language pathology (SLP) is considered an essential intervention due to the high prevalence of dysphagia and dysarthria in paediatric neuromuscular disorders (pNMD). Evidence-based guidelines for SLP pNMD are missing children could be deprived best care. This study aimed achieve consensus present practice recommendations on pNMD.Method: A modified Delphi technique was used with a panel experienced Dutch speech-language pathologists. In two online survey rounds face-to-face meeting, experts proposed items cases four types (congenital myopathy, Duchenne muscular dystrophy, myotonic dystrophy type 1, spinal atrophy 2), covering symptoms dysphagia, dysarthria, drooling, oral hygiene problems. They rated level agreement.Result: Intervention that achieved were incorporated into recommendations. These cover six core components (wait see, explanation advice, training treatment, aids adjustments, referral other disciplines, monitoring) suitable described symptoms.Conclusion: Insight treatment options facilitate pathologists clinical decision-making. The current led working within field pNMD.

Language: Английский

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Dysphagia Care and Management in Rehabilitation: A National Survey

Journal of Clinical Medicine, Journal Year: 2022, Volume and Issue: 11(19), P. 5730 - 5730

Published: Sept. 27, 2022

Dysphagia care and management may differ between countries healthcare settings. This study aims to describe the of dysphagia in rehabilitation centres health houses across Norway. Two national surveys were developed targeting either managers or professionals. Both focused on staff client populations; screening assessment dysphagia; interventions; training education; self-perceived quality care. A total 71 clinicians from 45 out 68 identified Norway completed surveys. The resulting overall response rate was 72.1%. Significant differences services Rehabilitation often had neither a speech therapist among their nor access external Screening most frequently performed using non-standardised water swallows only limited data available non-instrumental assessments. None respondents reported having instrumental interventions mainly consisted compensatory strategies, including bolus modification, with very infrequent use rehabilitative interventions, such as swallow manoeuvres. Although almost half all perceived for clients eating swallowing problems good, lack awareness its symptoms, consequences options treatment have influenced ratings. There is need raise provide opportunities professionals both assessment, management.

Language: Английский

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A Survey of Speech-Language Pathologists' Applications of Motor Learning Principles in Dysphagia Therapy in Adults in India

Journal of Speech Language and Hearing Research, Journal Year: 2023, Volume and Issue: 66(10), P. 3745 - 3762

Published: Sept. 6, 2023

In the study, we investigated whether speech-language pathologists (SLPs) in India use practice and feedback conditions of motor learning principles (MLPs), including biofeedback, dysphagia therapy adults using a problem-solution approach.Based on literature review clinical experience, developed validated hypothetical case involving an adult with (representing problem) purpose-built 22-item questionnaire solution). We distributed electronically by sending e-mail to 2,069 SLPs also published flyer special interest group India.A total 107 anonymously submitted their responses. conditions, most reported following massed over distributed, small large, blocked random, whole part, variable constant, internal external strategies. participants knowledge results performance, high low, immediate delayed, self therapist Lastly, more than two thirds did not biofeedback devices for therapy.The findings from our study indicate that do adhere uniformly recommended practices MLPs adults.

Language: Английский

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Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

Neurogastroenterology & Motility, Journal Year: 2024, Volume and Issue: 36(8)

Published: April 23, 2024

Abstract Background Duchenne's muscular dystrophy (DMD) is a severe type of hereditary, neuromuscular disorder caused by mutation in the dystrophin gene resulting absence or production truncated protein. Conventionally, clinical descriptions focus principally on striated muscle defects; however, DMD manifestations involving gastrointestinal (GI) smooth have been reported, even if not rigorously studied. Purpose The objective present review to offer comprehensive perspective existing knowledge concerning GI DMD, focusing attention evidence patients and mdx mice. This includes an assessment symptomatology, etiological pathways, potential corrective approaches. paper could provide helpful information about implications that serve as valuable orientation for prospective research endeavors this field. manuscript emphasizes effectiveness mice, animal model, unraveling mechanistic insights exploring pathological alterations tract. consequences evident with mice models are significant area researchers. exploration depth facilitate development more efficient therapeutic approaches improve well‐being individuals impacted condition.

Language: Английский

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Actions alimentation-nutrition pratiquées dans les établissements médicosociaux et de santé de Nouvelle-Aquitaine, intérêt et utilisation des services proposés par le centre de ressources en nutrition (Cerenut) de cette région

Nutrition Clinique et Métabolisme, Journal Year: 2024, Volume and Issue: 38(2), P. 82 - 87

Published: April 30, 2024

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A survey of dysphagia services practice in China

International Journal of Language & Communication Disorders, Journal Year: 2024, Volume and Issue: 59(6), P. 3004 - 3017

Published: Oct. 21, 2024

Abstract Background Dysphagia services have only recently been formalised within Chinese health services. There has no comprehensive evaluation of all aspects dysphagia practice in China. Aims To provide a profile for the China by assessing various facets Methods and Procedures This is survey study carried out from December 2022 to May 2023 online One hundred fifty‐nine respondents comprising doctors, nurses or therapists involved field rehabilitation completed questionnaire via Sojump. The included dichotomous (e.g., yes/no) multiple‐choice questions related participants' general information their provision management Results were analysed descriptively differences among different levels hospitals analysed. Outcomes Approximately two‐thirds (67.9%) started last 5 years. A significant difference initiation was observed across hospital ( χ 2 = 32.70; p < 0.001). Routine screening standard most (71.7%), with frequently employed method being water swallow test (95.6%). Clinical swallowing emerged as preferred initial assessment (80.5%) utilised (91.8%). Video fluoroscopic flexible endoscopic used 22.7% 12.6% respondents. choice methods 43.397; majority (53.5%) primarily main intervention (76%–100%). Most indicated that they would reevaluate patients after treatment (74.8%) reported routine follow‐up (60.4%). Conclusions Implications Despite relatively recent development China, patterns uncovered this are broadly consistent guidelines consensus. However, use instrumental assessments remains low, resulting lack objective patient conditions outcomes. need policy resource support WHAT THIS PAPER ADDS What already known on subject Assessment patients, medical facilities settings. adds existing knowledge assessed through an survey. We found but Variations between may be attributed constraints needs. Besides, while exercises primary largely centres clinical evaluation. implications work? results indicate needs improved there

Language: Английский

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Age Related Burden of Swallowing in Adult Patients Affected by Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, Journal Year: 2023, Volume and Issue: 10(5), P. 955 - 962

Published: May 19, 2023

In Duchenne muscular dystrophy (DMD), dysphagia is a common but often overlooked symptom, which may affect quality of life (QoL). Its possible causes are progressive deterioration muscle groups involved in swallowing function (oropharyngeal, inspiratory muscles) or impairment autonomic function.In adult patients with DMD, we aimed to identify predictors swallowing-related QoL and compare at different ages.Forty-eight aged 30.0±6.6 years were enrolled. Questionnaires administered: the Swallowing Quality Life questionnaire (SWAL-QOL) for assessment, Compass 31 symptoms assessment. The Brooke Upper Extremity Scale was used upper limbs Respiratory tests performed, including spirometry, arterial blood gases, polysomnography, maximal pressure (MIP), expiratory sniff nasal pressure.An abnormal composite SWAL-QOL score (≤86) found 33 patients. Autonomic mild, while severe shown by Scale. Spirometry strength demonstrated alterations, diurnal nocturnal gases normal, due effective use noninvasive ventilation. Independent age, MIP 31. A < 22 had an accuracy 92% predicting altered QoL. worse subjects > 30 old than younger (64.5±19.2 vs 76.6±16.3, p 0.02), scores items pertinent mental social functioning; domains physical similar both groups.In QoL, most patients, can be predicted muscles dysfunction symptoms. While already young progressively worsen advancing age psychological factors.

Language: Английский

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Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact

Muscle & Nerve, Journal Year: 2023, Volume and Issue: 69(3), P. 325 - 333

Published: Dec. 29, 2023

Abstract Introduction/Aims Anecdotally, patients with facioscapulohumeral muscular dystrophy (FSHD) describe gastrointestinal (GI) and genitourinary (GU) symptoms. We explored the prevalence of GI GU symptoms their impact on quality life (QOL) in people FSHD compared to healthy household controls. Methods In this descriptive, cross‐sectional study, we emailed a survey exploring all Society patient contacts ( n = 3507). invited those unaffected controls respond. Non‐parametric statistics were used compare symptom frequency between respondents Within group, was assessed relative measures disease progression (need for ambulatory or respiratory support). Results Surveys from 701 (652 FSHD) ≥18 years old included analysis. Those had affecting both systems more frequently than using ordinal rating frequency. advanced associated increased QOL negatively impacted by There no difference groups use medications treat these Discussion Recognition treatment FSHD, particularly disease, could improve QOL. Additional investigation is required confirm findings understand physiology.

Language: Английский

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