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CAG repeat-expansion spinocerebellar ataxias (CAG-SCAs) are genetically defined multisystemic degenerative diseases, resulting in motor symptoms including dysarthria with a substantial impact on daily living. Whilst speech therapy is widely recommended in ataxia, very limited evidence exists for its use. We evaluated the efficacy of a home-delivered, ataxia-tailored biofeedback-driven speech therapy in CAG-SCA in 16 individuals with SCA1, 2, 3, or 6. Treatment was delivered intensively over 20 days. Efficacy was evaluated by blinded ratings of intelligibility (primary) and acoustic measures (secondary) leveraging an intra-individual control design. Intelligibility improved post-treatment (Z = -3.18, p = 0.004) whilst remaining stable prior to treatment (Z = 0.53, p = 1.00).

Chicago Classification v4.0 (CCv4.0) is the updated classification scheme for esophageal motility disorders using metrics from high-resolution manometry (HRM). Fifty-two diverse international experts separated into seven working subgroups utilized formal validated methodologies over two-years to develop CCv4.0. Key updates in CCv.4.0 consist of a more rigorous and expansive HRM protocol that incorporates supine and upright test positions as well as provocative testing, a refined definition of esophagogastric junction (EGJ) outflow obstruction (EGJOO), more stringent diagnostic criteria for ineffective esophageal motility and description of baseline EGJ metrics. Further, the CCv4.0 sought to define motility disorder diagnoses as conclusive and inconclusive based on associated symptoms, and findings on provocative testing as well as supportive testing with barium esophagram with tablet and/or functional lumen imaging probe. These changes attempt to minimize ambiguity in prior iterations of Chicago Classification and provide more standardized and rigorous criteria for patterns of disorders of peristalsis and obstruction at the EGJ.

Background: Preterm infants commonly present with oral feeding problems. The role of maturation of esophageal bolus transport mechanisms herein remains unclear. Objectives: To characterize esophageal motility and function of esophagogastric junction (EGJ) during deglutitive swallowing in healthy preterm infants and to describe maturational changes. Methods: Four consecutive high-resolution manometry studies with impedance studies were performed weekly to investigate esophageal motility and EGJ function. Esophageal pressure topography and pressure-impedance metrics were derived. Mixed models with repeated measures were used for statistical analysis. Results: We analyzed 137 nutritive swallows from 36 motility studies in 10 preterm infants. The mean gestational age was 30.17 ± 0.94 weeks; the mean postmenstrual age at time point 1 and 4 was 34.42 ± 0.86 and 37.45 ± 1.16 weeks, respectively. Esophageal peristaltic wave patterns in response to nutritive swallows were observed in all patients. At later time points, esophageal body peristalsis became more rapid, evidenced by a faster distal contractile velocity and shorter distal latency (p = 0.002 and p < 0.0001, respectively). In addition, 4-s integrated relaxation pressures increased and distal contractile integral decreased at later time points (p = 0.003 and p = 0.021, respectively). Bolus clearance also improved at later age (p = 0.008). Conclusions: Preterm infants demonstrate peristaltic esophageal motility following nutritive swallows. However, alterations in esophageal bolus transport in relation to peristalsis are demonstrated. Peristaltic progression becomes more rapid, while deglutitive relaxation pressures increase with increasing age. These maturational changes may suggest further development of the enteric

Background: To characterize esophageal motility and function of the esophagogastric junction (EGJ) in preterm infants with bronchopulmonary dysplasia (BPD). Methods: High-resolution manometry with impedance was used to investigate esophageal motility and EGJ function in 28 tube-fed preterm infants with BPD. Patients with BPD were studied at term age during oral feeding. Thirteen healthy term-aged infants were included as controls. Esophageal analysis derived objective measures to evaluate esophageal contractile vigor, bolus distension pressure, EGJ relaxation, and EGJ barrier function (in rest and during respiration). In addition, we investigated the effect of BPD severity on these measures. Key results: A total of 140 nutritive swallows were analyzed (BPD, n = 92; controls, n = 48). Normal esophageal peristaltic wave patterns were observed in all infants. BPD patients had higher distal contractile esophageal strength compared with controls (Kruskal-Wallis (KW) P =.048), and their deglutitive EGJ relaxation was comparable to controls. Severe BPD patients showed higher bolus distension pressures, higher EGJ resting pressures, and increased EGJ contractile integrals compared with mild BPD patients (Mann-Whitney U P =.009, KW P =.012 and KW P =.028, respectively). Conclusions and Inferences: Preterm infants with BPD consistently present with normal peristaltic esophageal patterns following nutritive liquid swallows. The EGJ barrier tone and relaxation pressure appeared normal. In general, infants with BPD do not have altered esophageal motor function. There is however evidence for increased flow resistance at the EGJ in severe BPD patients possibly related to an increased contractility of the diaphragm.

Background: Esophageal atresia is a major congenital foregut anomaly. Affected patients often suffer from respiratory and gastro-intestinal morbidity. The objective of this study is to identify possible neonatal predictive factors contributing to a long-term complicated clinical course in patients after repair of esophageal atresia. Methods: A total of 93 patients born between 1993 and 2013, with esophageal atresia and surviving the neonatal period were included in this retrospective study. A complicated clinical course was defined as the occurrence of 1 of these complications: severe gastroesophageal reflux, esophageal stricture requiring dilatations, need for tube feeding for >100 days, severe tracheomalacia, severe chronic respiratory disease and death. We used linear models with a binomial distribution to determine risk factors for gastro-intestinal or respiratory complicated evolution and a backward stepwise elimination procedure to reduce models until only significant variables remained in the model. Multinomial logistic regression was used to assess risk factors for different evolutions of complication. Model parameter estimates were used to calculate odds ratios for significant risk factors. Results: Fifty-seven patients (61%) had a complicated clinical course in the first year of life and 47 (51%) had a complicated evolution during years 1e6. In the first year, prematurity was a significant factor for complicated gastro-intestinal (OR 2.84) and respiratory evolution (OR 2.93). After 1 year, gastro-intestinal morbidity in childhood was associated with VACTERL association (OR 12.2) and a complicated first year (OR 36.1). Respiratory morbidity was associated with congenital heart disease (OR 12.9) and a complicated first year (OR 86.9). Multinomial logistic regression showed that prematu

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management. METHODS: 11 consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts. A comprehensive behavioural assessment including objective acoustic analysis and expert perceptual ratings of motor speech, the Clinical Assessment of Dysphagia in Neurodegeneration (CADN), videofluoroscopy and standardized tests of dysarthria and swallowing related quality of life was conducted. RESULTS: Speech in this ARSACS cohort is characterized by pitch breaks, prosodic deficits including reduced rate and prolonged intervals, and articulatory deficits. The swallowing profile was characterized by delayed initiation of the swallowing reflex and late epiglottic closure. Four out of ten patients were observed aspirating thin liquids on videofluoroscopy. Patients report that they regularly cough or choke on thin liquids and solids during mealtimes. Swallowing and speech-related quality of life was worse than healthy controls on all domains except sleep. CONCLUSIONS: The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.

BACKGROUND: Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials. METHODS: 14 consecutive patients with POLG (9 females, mean age=50.1y, SD=11.2) and 34 healthy controls were enrolled. Comprehensive assessments of motor speech and swallowing function, acoustic analysis of speech, videofluoroscopy and measures of quality of life were conducted. RESULTS: The speech profile of individuals with POLG-A was characterized by poor control of pitch and strain-strangled voice quality, reduced rate of speech and longer variable silences between words, and articulatory breakdown including imprecise consonants and vowel distortions. Swallowing deficits included slower initiation of the swallow reflex, poor control of bolus and late epiglottic closure. Speech and swallowing related quality of life was worse than healthy controls. CONCLUSIONS: The dysarthria and dysphagia profiles in POLG-A are largely symptomatic of impaired timing, indicating a mainly spinocerebellar deficit. Dysarthria and dysphagia contribute to a significant impairment in functional quality of life, and progress distinctly from other POLG-A dysfunctions like ataxia or cognitive impairment. Our assessments establish meaningful patient focused outcome measures that will be suitable for use in natural history studies and clinical trials.

Screening assessments for dysphagia are essential in neurodegenerative disease. Yet there are no purpose-built tools to quantify swallowing deficits at bedside or in clinical trials. A quantifiable, brief, easy to administer assessment that measures the impact of dysphagia and predicts the presence or absence of aspiration is needed. The Clinical Assessment of Dysphagia in Neurodegeneration (CADN) was designed by a multidisciplinary team (neurology, neuropsychology, speech pathology) validated against strict methodological criteria in two neurodegenerative diseases, Parkinson's disease (PD) and degenerative ataxia (DA). CADN comprises two parts, an anamnesis (part one) and consumption (part two). Two-thirds of patients were assessed using reference tests, the SWAL-QOL symptoms subscale (part one) and videofluoroscopic assessment of swallowing (part two). CADN has 11 items and can be administered and scored in an average of 7 min. Test-retest reliability was established using correlation and Bland-Altman plots. 125 patients with a neurodegenerative disease were recruited; 60 PD and 65 DA. Validity was established using ROC graphs and correlations. CADN has sensitivity of 79 and 84% and specificity 71 and 69% for parts one and two, respectively. Significant correlations with disease severity were also observed (p < 0.001) for PD with small to large associations between disease severity and CADN scores for DA. Cutoff scores were identified that signal the presence of clinically meaningful dysphagia symptomatology and risk of aspiration. The CADN is a reliable, valid, brief, quantifiable, and easily deployed assessment of swallowing in neurodegenerative disease. It is thus ideally suited for both clinical bedside assessment and future multicentre clinical trials in neurodegenerative disease.

© 2016 Leibbrandt, Dinning, Costa, Cock, Wiklendt, Wang, Tack, van Beckevoort, Rommel and Omari. The esophagus functions to transport swallowed fluids and food from the pharynx to the stomach. The esophageal muscles governing bolus transport comprise circular striated muscle of the proximal esophagus and circular smooth muscle of the distal esophagus. Longitudinal smooth muscle contraction provides a mechanical advantage to bolus transit during circular smooth muscle contraction. Esophageal striated muscle is directly controlled by neural circuits originating in the central nervous system, resulting in coordinated contractions. In contrast, the esophageal smooth muscle is controlled by enteric circuits modulated by extrinsic central neural connections resulting in neural relaxation and contraction. The esophageal muscles are modulated by sensory information arising from within the lumen. Contraction or relaxation, which changes the diameter of the lumen, alters the intraluminal pressure and ultimately inhibits or promotes flow of content. This relationship that exists between the changes in diameter and concurrent changes in intraluminal pressure has been used previously to identify the “mechanical states” of the circular muscle; that is when the muscles are passively or actively, relaxing or contracting. Detecting these changes in the mechanical state of the muscle has been difficult and as the current interpretation of esophageal motility is based largely upon pressure measurement (manometry), subtle changes in the muscle function during peristalsis can be missed. We hypothesized that quantification of mechanical states of the esophageal circular muscles and the pressure-diameter properties that define them, would allow objective characterization of the mechanisms that govern esophageal peristalsis. To achieve this we analyzed barium swallows captured by simultaneous videofluoroscopy and pressure with impedance recording. From these data we demonstrated that intra

Background and aims: Progressive neurological disease typically results in swallowing deficits (dysphagia). Current tools used to assess dysphagia are often unstandardized, qualitative or do not cover aspects beyond ability to swallow water. The CADN was developed to provide a quantitative method for describing and monitoring dysphagia in neurodegenerative disease. Methods: Assessment items were selected for their utility, validity and reliability based on clinical expertise and consideration of existing tools. 138 (predominately PD, but including hereditary ataxia) patients were assessed using CADN by two raters blinded to diagnosis. Additional outcome measures included a reference assessment (videofluoroscopic assessment of swallowing (VFSS)), the SWAL-QoL (patient survey) and the Montreal Cognitive Assessment (MoCA). Results: Clinical data derived from the VFSS and SWALQoL correlated significantly with CADN total and subsections (both impairment and functional components). Reliability of repeat assessments conducted within two days of each other was high. English, German and Spanish versions were developed. Conclusion: The CADN provides quantitative data on the nature and severity of dysphagia making it suitable for characterising deficits and monitoring change in function resulting from treatment or disease progression. It can be administered in less than 10 minutes. Disclosure: Work is supported by the Alexander von Humboldt Foundation, Germany and the National Health and Medical Research Council of Australia.

Background: Pharyngeal automated impedance manometry (AIM) analysis is a novel non-radiological method to analyze swallowing function based on impedance-pressure recordings. In dysphagic head and neck cancer patients, we evaluated the reliability and validity of the AIM-derived swallow risk index (SRI) and a novel measure of postswallow residue (iZn/Z) by comparing it against videofluoroscopy as the gold standard. Methods: Three blinded experts classified 88 videofluoroscopic swallows from 16 patients for aspiration and degree of postswallow residue. Pressure-impedance recordings of the patient and age-matched control swallows were analyzed using AIM by three observers who derived the SRI and iZn/Z. Intra-class correlation coefficients (ICC) were calculated for videofluoroscopic and AIM measures. Patient pressure/impedance measurements were compared with videofluoroscopy scores and control subjects to determine validity for detecting clinically relevant swallowing dysfunction. Key Results: Agreement among observers assessing presence of penetration and aspiration was modest (ICC 0.57) for videofluoroscopy and good (ICC 0.71, 0.82) for AIM-derived SRI and iZn/Z. When compared with age-matched controls, the SRI was higher in patients with aspiration (mean diff. 28.6, 95% CI [55.85, 1.355], p < 0.05). The iZn/Z had moderate positive correlation with bolus residue on fluoroscopy (BRS score) (rs(86) = 0.4120, p < 0.0001) and was increased in both patients with aspiration ({increment}244 [419.7, 69.52; p < 0.05]) and penetration ({increment}240 [394.3, 85.77]; p < 0.05) compared to controls. Conclusions & Inferences: AIM-based measures of swallowing function have better inter-rater reliability than comparable fluoroscopically derived measures. These measures are easily determined and objective markers of clinically relevant features of disordered swallowing following radiotherapy.

Item does not contain fulltext, The Velo-Cardio-Facial Syndrome (VCFS), caused by a submicroscopic deletion in the long arm of chromosome 22, has a broad clinical spectrum of ENT manifestations including for instance velopharyngeal dysfunction, hearing problems and laryngotracheal anomalies. In the current report we present guidelines for diagnosis, treatment and follow-up of the ENT manifestations in patients with a deletion 22q11, based on our experience and the literature.

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Item does not contain fulltext, The velo-cardio-facial syndrome (VCFS) is a leading cause of velopharyngeal dysfunction and cleft palate and caused by a submicroscopic deletion in the long arm of chromosome 22 (band 22q11). During the last 5 years, 130 patients with a 22q11 deletion were diagnosed in Leuven. Most patients presented a wide variety of the classical features of the velo-cardio-facial syndrome. Velopharyngeal dysfunction was almost always present whereas an isolated cleft lip/palate was observed in a minority of patients. The velopharyngeal function can be evaluated by the classic combination of indirect and direct techniques. Because of the frequent occurrence of the velo-cardio-facial syndrome, estimated at around 1/4000 live births, and given the extremely broad clinical spectrum which makes clinical diagnosis difficult, screening of patients with velopharyngeal dysfunction for a deletion 22q11 is indicated.

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Photoelectron spectroscopy studies verify the occurrence of S/Se substitution in single crystal CdSe and CdS photoanodes when used in photoelectrochemical cells containing S2- or Se2- solutions. A possible mechanism of the S/Se exchange is discussed as well as its consequences on the electrode stability and the output parameters of the photoelectrochemical cells. (Author)