Trends in Research Literature Describing Dysphagia in Motor Neuron Diseases (MND): A Scoping Review

AbstractDysphagia in motor neuron diseases (MNDs) is highly complex, affecting all stages of swallowing and leading to impaired swallowing safety and efficiency. In order to explore the degree to which research is capturing the symptom of dysphagia in MND, we conducted a scoping review of the existing literature. The primary aims of this review were to identify common themes within the literature on dysphagia in MND, explore patterns and trends in research focus, and identify if any imbalances exist between the research themes related to dysphagia description and management. A comprehensive search strategy yielded 1690 unique articles for review. Following relevance screening, a total of 157 articles were included in the synthesis. Relevant data and keywords were extracted from each article and grouped into themes. Frequency estimates were calculated for each theme to identify trends across research literature. Swallowing impairment in MNDs is described in a variety of ways across current research. The most commonly reported theme wasAspiration/Penetration, mentioned in 73.2% of all included articles; a significant imbalance was identified between reports of swallowing safety and efficiency (p = 0.008). The most frequently reported theme related to dysphagia management wasEnteral Nutrition, and very few studies have reported on the efficacy ofRehabilitation/Compensatory recommendations. It is suggested that researchers and clinicians remain mindful of imbalances and...
Source: Dysphagia - Category: Speech-Language Pathology Source Type: research

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This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In the first step of work, Sanger sequencing (SS) was performed inATL1,SPAST, andREEP1 genes and the second phase whole-exome sequencing (WES) was performed following SS analysis for the patients with no detected mutations in these genes. The results of this study revealed that inATL1, 6 patients have previously reported c.776C  >  A mutation and 6 patients have novel c.470 T >  C mutation. InSPAST, 3 patie...
Source: Neurological Sciences - Category: Neurology Source Type: research
Conclusions: Empathy develops and operates within shared experiences and connections, enabled by structural possibilities provided by the forums giving users the opportunity and means to interact within public, restricted, and more private spaces, as well as within groups and in one-to-one exchanges. The atmosphere and feeling of both sites and perceived audiences were important facilitators of empathy, with users sharing a perception of virtual communities of caring and supportive people. Our findings are of value to organizations hosting health forums and to health professionals signposting patients to additional sources of support.
Source: Journal of Medical Internet Research - Category: General Medicine Authors: Source Type: research
ò RS Abstract BACKGROUND: Amyotrophic Lateral Sclerosis flail arm (ALS-FA) is a motor neuron disease form confined to the upper limbs (cervical spinal cord region), often with asymmetric onset. To date, there is no defined neurorehabilitative strategy for ALS patients, although aerobic exercises may be of some help. CASE REPORT: A 69 year-old woman affected by ALS-FA was admitted to our research institute because of upper limb muscles weakness. She was then submitted to two different conventional physiotherapy programs, the first stand-alone and the second combined to a robotic treatment. The patient g...
Source: European Journal of Physical and Rehabilitation Medicine - Category: Rehabilitation Authors: Tags: Eur J Phys Rehabil Med Source Type: research
Conclusions: NF-L levels increased in CSF and serum of patients with ALS. NF-L may thus be a neurodegenerative biomarker for predicting ALS severity and progression, and the survival of patients with this disease.Neurodegener Dis
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research
Spinal muscular atrophy (SMA) results from insufficient levels of the survival motor neuron (SMN) protein. Drosophila is conducive to large-scale genetic-modifier screens which can reveal novel pathways underpinn...
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research
CONCLUSIONS: NF-L levels increased in CSF and serum of patients with ALS. NF-L may thus be a neurodegenerative biomarker for predicting ALS severity and progression, and the survival of patients with this disease. PMID: 29898446 [PubMed - as supplied by publisher]
Source: Neuro-Degenerative Diseases - Category: Neurology Authors: Tags: Neurodegener Dis Source Type: research
Spinal muscular atrophy (SMA), a degenerative motor neuron (MN) disease, caused by loss of functional survival of motor neuron (SMN) protein due to SMN1 gene mutations, is a leading cause of infant mortality. Increasing SMN levels ameliorates the disease phenotype and is unanimously accepted as a therapeutic approach for patients with SMA. The ubiquitin/proteasome system is known to regulate SMN protein levels; however, whether autophagy controls SMN levels remains poorly explored. Here, we show that SMN protein is degraded by autophagy. Pharmacological and genetic inhibition of autophagy increases SMN levels, while induct...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
CONCLUSIONS: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research. PMID: 29886477 [PubMed - as supplied by publisher]
Source: Dementia and Geriatric Cognitive Disorders - Category: Psychiatry Tags: Dement Geriatr Cogn Disord Source Type: research
uml;zçakar L Abstract BACKGROUND: Chemoneurolysis is used to treat focal spasticity in patients with upper motor neuron syndrome. CASE REPORT: Neurolytic substances (phenol/alcohol) injected nearby/in the main trunk of peripheral nerves can cause not only motor but also cutaneous nerves destruction. The latter is thought to be responsible for considerable side effects such as dysesthesia and paresthesia. During injections, targeting the primary motor branches originating from the main trunk while sparing cutaneous nerves will result in decrease/elimination of these side effects and better clinical impr...
Source: European Journal of Physical and Rehabilitation Medicine - Category: Rehabilitation Authors: Tags: Eur J Phys Rehabil Med Source Type: research
Anatomia, Histologia, Embryologia, EarlyView.
Source: Anatomia, Histologia, Embryologia: Journal of Veterinary Medicine Series C - Category: Veterinary Research Authors: Source Type: research
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