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Genetic determinants of swallowing impairment, recovery and responsiveness to treatment.

ABSTRACT: PURPOSE OF REVIEW:Here we review the latest literature and evidence in the field of genetics and determinants of swallowing and its treatments-specifically, this is a very recent concept in the field of oropharyngeal dysphagia, with only now an emerging research interest in the relationship between our genetic makeup and the effect this has on swallowing function and dysfunction. As such our review will look at preclinical, clinical and hypothesis generating research covering all aspects of the genetics of swallowing, giving new importance to the genotype-phenotype influences pertaining to dysphagia and its recovery. RECENT FINDINGS:There appear to be a number of candidate gene systems that interact with swallowing or its neurophysiology, which include brain-derived neurotrophic factor, apolipoprotein E and catechol-O-methyltransferase, that have been shown to impact on either swallowing function or the brain's ability to respond to neurostimulation and induce plasticity. In addition, a number of genetic disorders, where dysphagia is a clinical phenomenon, have given us clues as to how multiple genes or the polygenetics of dysphagia might interact with our swallowing phenotype. SUMMARY:There is currently limited research in the field of genetic factors that influence (human) swallowing and oropharyngeal dysphagia, but this is an emerging science and one which, in the future, may herald a new era in precision medicine and better targeting of therapies for dysphagia based on an individual's genetic makeup.

SUBMITTER: Raginis-Zborowska A

PROVIDER: S-EPMC5148785 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Genetic determinants of swallowing impairment, recovery and responsiveness to treatment.

Raginis-Zborowska Alicja A Pendleton Neil N Hamdy Shaheen S

Current physical medicine and rehabilitation reports 20160808 4

<h4>Purpose of review</h4>Here we review the latest literature and evidence in the field of genetics and determinants of swallowing and its treatments-specifically, this is a very recent concept in the field of oropharyngeal dysphagia, with only now an emerging research interest in the relationship between our genetic makeup and the effect this has on swallowing function and dysfunction. As such our review will look at preclinical, clinical and hypothesis generating research covering all aspects ...[more]

PMID: 28018753

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Project description:PurposeThe elements of impaired swallowing biomechanics are visually assessed and scored by clinicians using a standardized and validated tool for assessing type and severity of physiological impairments using the Modified Barium Swallow Impairment Profile (MBSImP). However, the functional anatomical correlates that underly noted impairments using MBSImP scoring have not been measured. The purpose of this study was to determine whether differences in MBSImP component scores represent differences in underlying swallowing mechanics as measured by computational analysis of swallowing mechanics (CASM) to better define underlying mechanisms of impairment.MethodA retrospective analysis of modified barium swallow studies from physician-referred adult patients with dysphagia was scored using the MBSImP for laryngeal elevation, anterior hyoid excursion, epiglottic movement, pharyngoesophageal segment opening, and tongue base retraction. A canonical variate analysis (CVA) was performed to determine the movement of anatomical landmarks associated with MBSImP component scores using the CASM method. Mahalanobis distances (D) were then used to detect differences among MBSImP scores for each component assessed.ResultsCVA showed significant differences (p < .0001) in Mahalanobis distance (D > 1) between MBSImP component scores of 0-1, 0-2, 0-3, or 0-4, as applicable, depending on the component. Discriminant function analyses revealed concomitant increase/worsening in MBSImP score with changes in anatomical positioning of structures.ConclusionsRatings of swallowing impairment and physiology using the MBSImP have distinct biomechanical correlates with anatomical movements of swallowing. These data further demonstrate how swallowing mechanics are highly interrelated. Understanding these linkages between anatomical and physiological movement within impaired swallowing biomechanics is essential in more specific characterization and treatment of dysphagia.Supplemental materialhttps://doi.org/10.23641/asha.20816788.

Project description:Reduced range of hyoid and laryngeal movement is thought to contribute to aspiration risk and pharyngeal residues in dysphagia. Our aim was to determine the extent to which movements of the hyoid and larynx are correlated in the superior and anterior directions in swallowing, and whether movement range is predictive of penetration-aspiration or pharyngeal residue.Prospective, single-blind study of penetration-aspiration and pharyngeal residue with objective frame-by-frame measures of hyoid and laryngeal excursion from videofluoroscopy.Tertiary hospital and rehabilitation teaching hospital.Twenty-eight participants referred for videofluoroscopy: 13 women, aged 57-77; 15 men, aged 54-70. Individuals with known neurodegenerative diseases or prior surgery to the neck were excluded. Each swallowed three boluses of 40% w/v thin liquid barium suspension.Two speech-language pathologists independently rated penetration-aspiration, vallecular and pyriform sinus residue. Cervical spine length, hyoid and laryngeal displacement were traced frame-by-frame. Predictive power was calculated.Cervical spine length was significantly greater in men. Hyoid displacement ranged from 34-63% of the C2-4 distance. Arytenoid displacement ranged from 18-66%, with significantly smaller anterior displacement in men. Positive hyoid-laryngeal movement correlations in both axes were the most common pattern observed. Participants with reduced displacement ranges (? first quartile) and with abnormal correlation patterns were more likely to display penetration-aspiration. Those with reduced anterior hyoid displacement and abnormal correlation patterns had a greater risk of post-swallow pharyngeal residues.It is difficult for clinicians to make on-line appraisals of the extent to which hyoid and laryngeal movement may be contributing to functional swallowing consequences during videofluoroscopy. This study suggests that it is most important for clinicians to discern whether reduced anterior displacement of these structures is contributing to a patient's swallowing impairment. Measures of structural displacement in thin liquid swallowing should be corrected for variations in participant height. Reductions in anterior hyoid and laryngeal movement below the first-quartile boundaries are statistically associated with increased risk for penetration-aspiration and post-swallow residues.

Project description:IntroductionClassically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Our aim was to evaluate the cognitive profile of MSA Tunisian patients and to analyze the underlying clinical and genetic determinants.MethodsIn a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified.ResultsWe included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010).ConclusionIn this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.

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Genetic determinants of swallowing impairment, recovery and responsiveness to treatment.

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Genetic determinants of swallowing impairment, recovery and responsiveness to treatment.

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