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PRESBYPHAGIA: THE INFLUENCE OF PRIMARY AGING ON SWALLOWING FUNCTION: Elderly often get confronted with swallowing difficulties. It is important to differentiate between presbyphagia, which describes the influence of primary aging on swallow function and dysphagia, which is a pathological swallowing disorder caused by age related diseases and their treatment. In this literature overview the focus is on presbyphagia. The influence of primary aging on the oropharyngeal swallowing function and on other body functions that are indirectly related to swallowing will be discussed. From the literature we learn that in primary aging a number of functions stay preserved, a number of functions deteriorate, and some compensatory mechanisms are evident. The swallow safety as such however, stays preserved. To conclude with we discuss some clinical implications concerning both the detection of swallowing disorders in the elderly and the establishment of preventive action for the healthy elderly.

AUTOMATED IMPEDANCE MANOMETRY (AIM): OBJECTIVE DIAGNOSIS OF OROPHARYNGEAL DYSPHAGIA: This review article aims to demonstrate the clinical potential of Automated Impedance Manometry (AIM) as a new, non-radiological technique for screening and diagnosis of oro-pharyngeal dysphagia. An integrated - rather than separate - analysis of pressure and impedance patterns generated in the pharynx when swallowing a food bolus, can be a useful complement to the radiological investigations considered as gold standard today. Major advantages are the objective nature of this technique and the fully automated calculation of various swallow parameters. A global measure of swallowing function can be derived (a Swallow Risk Index, SRI) and is related to (the severity of) the risk of aspiration and the presence of pharyngeal post-swallow residue. It was shown that aspiration on videofluoroscopy was accurately detected by using AIM with a sensitivity of 0.88 and a specificity of 0.96. AIM analysis can be performed quickly and is reliable in the hands of different end users. Various parameters are sufficiently sensitive to detect changes in bolus consistency and - as was recently found - are influenced by swallowing manoeuvers. Furthermore, different patterns of deviant swallow parameters can be found in different patient populations. Whether this observation can provide specific diagnoses and - as a consequence - more targeted treatments is currently under investigation.

Background and Aim: There is paucity of data on the prevalence of feeding difficulties in Food Protein-Induced Gastrointestinal Allergies (FPIGA) and their clinical characteristics. However, it is a commonly reported problem by clinicians. We set out to establish the occurrence of feeding difficulties in children with FPIGA, the association with gastrointestinal and extra-intestinal symptoms and number of foods eliminated from the diet., Methods: This retrospective observational analysis was performed in patients seen between 2002 and 2009 at Great Ormond Street Children's Hospital, Gastroenterology Department, London. Medical records where FPIGA was documented using the terms from the National Institute of Allergy and Infectious Disease and National Institute of Clinical Excellence and confirmed using an elimination diet, followed by a challenge were included. Feeding difficulties were assessed using a criteria previously used in healthy toddlers in the UK., Results: Data from 437 children (203 female) were collected. Significantly more children with feeding difficulties presented with abdominal distention and bloating (P = 0.002), vomiting (P < 0.0001), weight loss (P < 0.0001), rectal bleeding (P = 0.025), and constipation (P < 0.0001). We also found that having extra-intestinal manifestations were significantly (P < 0.0001) associated with the presence of feeding difficulties. Additionally, a significantly higher number of foods eliminated from the diet in the children with/without feeding difficulties (P = 0.028)., Conclusions: Clinical manifestations like vomiting, constipation, rectal bleeding, weight loss, and the presence of extra-intestinal manifestations in addition to the number of foods avoided are in our FPIGA population linked to feeding difficulties., (© 2014 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.)

Deglutition, or swallowing, refers to the process of propulsion of a food bolus from the mouth into the stomach and involves the highly coordinated interplay of swallowing and breathing. At 34 weeks gestational age most neonates are capable of successful oral feeding if born at this time; however, the maturation of respiration is still in progress at this stage. Infants can experience congenital and developmental pharyngeal and/or gastrointestinal motility disorders, which might manifest clinically as gastro-oesophageal reflux (GER) symptoms, feeding difficulties and/or refusal, choking episodes and airway changes secondary to micro or overt aspiration. These problems might lead to impaired nutritional intake and failure to thrive. These gastrointestinal motility disorders are mostly classified according to the phase of swallowing in which they occur, that is, the oral preparatory, oral, pharyngeal and oesophageal phases. GER is a common phenomenon in infancy and is referred to as GERD when it causes troublesome complications. GER is predominantly caused by transient relaxation of the lower oesophageal sphincter. In oesophageal atresia, oesophageal motility disorders develop in almost all patients after surgery; however, a congenital origin of disordered motility has also been proposed. This Review highlights the prenatal development of upper gastrointestinal motility and describes the most common motility disorders that occur in early infancy.

The development of language, social interaction, and communicative skills are remarkably different in the child with autism spectrum disorder (ASD). Atypical brain connectivity has frequently been reported in this patient population. However, the interplay between their brain connectivity and language performance remains largely understudied. Using diffusion tensor imaging tractography and resting-state fMRI, the authors explored the structural and functional connectivity of the language network and its relation to the language profile in a group of healthy control subjects (N = 25) and a group of children with ASD (N = 17). The authors hypothesized that in children with ASD, a neural connectivity deficit of the language network can be related to the observed abnormal language function. They found an absence of the right-hemispheric arcuate fascicle (AF) in 28% (7/25) of the healthy control children and in 59% (10/17) of the children with ASD. In contrast to healthy control children, the absence of the right-hemispheric AF in children with autism was related to a lower language performance as indicated by a lower verbal IQ, lower scores on the Peabody Picture Vocabulary Test, and lower language scores on the Dutch version of the Clinical Evaluation of Language Fundamentals (CELF-4NL). In addition, through iterative fMRI data analyses, the language impairment of children with ASD could be linked to a marked loss of intrahemispheric functional connectivity between inferior frontal and superior temporal regions, known as the cortical language network. Both structural and functional underconnectivity patterns coincide and are related to an abnormal language function in children with ASD., (Copyright © 2013 Wiley Periodicals, Inc.)

Objectives: Traditional surgical teaching is influenced by restrictive factors, such as financial pressures and ethical constraints. The teaching of surgical skills during a medical school education seems not to be robust enough at present, possibly resulting in stressful circumstance for surgical novices. However, the authors are convinced that practical training is fundamental for preparing medical students optimally for challenges in the operating theater and have, therefore, examined a novel method of teaching basic surgical skills to medical students., Methods: A total of 20 medical students received surgical skill training, which included theoretical lessons, working with ex vivo pig training models, and active participation in the operating theater. All the trainees took written tests and were rated in an Objective Structured Clinical Examination. Before and after training, the students completed a self-assessment form involving the choice of the correct surgical indication and the performance of surgical procedures., Results: The students' performance in the written examination and in the Objective Structured Clinical Examination increased significantly after training (p ≤ 0.001). Furthermore, the evaluation of the self-assessment form revealed significant improvements in all categories (p ≤ 0.001)., Conclusions: Our surgical training method appears to improve the surgical abilities of medical students and to increase their self-confidence with respect to surgical procedures. Therefore, the authors recommend the integration of this method into the medical school curriculum to prepare medical students well for surgical challenges., (Copyright © 2014 Association of Program Directors in Surgery. Published by Elsevier Inc. All rights reserved.)

Objectives: The purpose of the present study was to apply a new method, pharyngeal automated impedance manometry (AIM), as an objective assessment tool of swallow function relevant to aspiration, in a cohort of paediatric patients with dysphagia., Methods: We studied 20 children (mean age 6 years [5 months to 13.4 years]) referred for videofluoroscopy to assess aspiration risk with simultaneous manometry-impedance. Fluoroscopic evidence of aspiration was scored using a validated aspiration-penetration score. Pressure-flow profiles were analysed using AIM analysis measuring peak pressure, pressure at nadir impedance, time from nadir impedance to peak pressure, and flow interval. These variables were combined into a swallow risk index (SRI)., Results: Six of 20 children presented with deglutitive aspiration during videofluoroscopic assessment of swallowing. Of 58 liquid swallows analysed, in 9 aspiration was observed. Multiple logistic regression identified longer flow interval (P < 0.05), higher SRI (P < 0.05) and increased pressure in the upper oesophageal sphincter during maximal bolus flow (P < 0.05) to be the dominant risk variables predictive of aspiration in children. Each of these nonradiologically derived pressure-flow variables correlated with higher aspiration scores on videofluoroscopy (P < 0.01)., Conclusions: We present novel, preliminary findings in children with deglutitive aspiration, suggesting that pharyngeal AIM can detect alterations in pressure-flow characteristics of swallowing that predispose to aspiration risk.

Background: Diagnostic evaluation of non-achalasia esophageal dysphagia remains challenging because of a lack of a clear relationship between symptoms, esophageal contraction patterns, and esophageal bolus flow. This study evaluates a novel approach to pressure-impedance analysis called automated impedance manometry (AIM) analysis in relation to bolus characteristics, Chicago classification metrics, bolus perception, and dysphagia., Methods: AIM analysis was performed on esophageal high resolution manometry-impedance recordings from 12 healthy controls and 15 patients with dysphagia. In each subject, 10 liquid, 10 semisolid, and 10 solid swallows were analyzed using AIMplot software., Key Results: This study demonstrated that (i) esophageal pressure-flow parameters differ with bolus type (liquid, semisolid, and solids), (ii) impedance at peak pressure parameter can discriminate normal from dysphagic subjects with high accuracy on a cut-off threshold at 2400 Ohms (kappa 0.77, sensitivity 0.83, and specificity 0.93), and (iii) nadir impedance and impedance at peak pressure highly correlate with perception of esophageal bolus flow (r = -0.65, p = 0.02; r = -0.70, p = 0.01 resp)., Conclusions & Inferences: This study presents novel esophageal pressure-flow variables in control subjects and in a cohort of patients with dysphagia. These variables are altered in relation to bolus consistency and can discriminate between subjects with and without symptoms of dysphagia. For the first time, we present high resolution esophageal pressure-flow variables that accurately link in with patient perception of esophageal bolus hold up., (© 2014 John Wiley & Sons Ltd.)

Globus is a topic of interest for many specialties including otorhinolaryngology, gastroenterology and psychiatry/psychosomatic medicine, but, although many hypotheses have been suggested, key questions about its aetiology remain. This Review provides an overview of the extensive literature concerning this topic and discusses the quality of the evidence to date. Globus has been associated with oropharyngeal structural lesions, upper oesophageal sphincter disorders, oesophageal disorders, GERD, psychosocial factors and psychiatric comorbidity. However, findings are often contradictory and the literature remains highly inconclusive. Indeed, with the exception of patients with structural-based globus, the Rome III criteria for functional globus only apply to a subgroup of patients with idiopathic globus. In clinical reality, there exists a group of patients who present with idiopathic (nonstructural) globus, but nevertheless have dysphagia, odynophagia or GERD-exclusion criteria for globus diagnosis according to Rome III. The symptomatology of patients with globus might be broader than previously thought. It is therefore crucial to approach globus not from one single perspective, but from a multifactorial point of view, with focus on the coexistence and/or interactions of different mechanisms in globus pathogenesis. This approach could be translated to clinical practice by adopting a multidisciplinary method to patients presenting with globus.

The development of language, social interaction and communicative skills is remarkably different in the child with autism spectrum disorder (ASD). Atypical brain connectivity has frequently been reported in this patient population. However, the neural correlates underlying their disrupted language development and functioning are still poorly understood. Using resting state fMRI, we investigated the functional connectivity properties of the language network in a group of ASD patients with clear comorbid language impairment (ASD-LI; N = 19) and compared them to the language related connectivity properties of 23 age-matched typically developing children. A verb generation task was used to determine language components commonly active in both groups. Eight joint language components were identified and subsequently used as seeds in a resting state analysis. Interestingly, both the interregional and the seed-based whole brain connectivity analysis showed preserved connectivity between the classical intrahemispheric language centers, Wernicke's and Broca's areas. In contrast however, a marked loss of functional connectivity was found between the right cerebellar region and the supratentorial regulatory language areas. Also, the connectivity between the interhemispheric Broca regions and modulatory control dorsolateral prefrontal region was found to be decreased. This disruption of normal modulatory control and automation function by the cerebellum may underlie the abnormal language function in children with ASD-LI.

The objective of the study was to find out if human amniotic membrane could be used for corrective surgery after trauma to the orbital wall. Because of its proposed antiadhesive qualities, it seemed to be potentially suitable. We studied 8 men (mean age 37 (range 19-74) years) who had deficient ocular movement after fractures of the orbital floor. Five of them had already been operated on. Inclusion criteria were trauma dating back more than 4 months and a soft tissue stricture in the orbital floor diagnosed by magnetic resonance imaging. Patients were treated secondarily with lysis of adhesions and insertion of allogeneic human amniotic membrane laminated on to polyglactin 910/polydioxanone foil, which functioned as the carrier material. Patients were followed up for 3 months, by which time disorders of motility of the ocular bulb had disappeared completely in 5. Two patients had improved motility and a reduction in both their subjective and objective symptoms. One patient had no improvement. The considerable reduction in adhesions and scarring after insertion of the membrane confirms previous assumptions, according to which the epithelial side of the human amniotic membrane has an antiadhesive effect because of its smooth surface., (Copyright © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Background: The aortic pulse-wave velocity (PWV) is an important indicator of cardiovascular risk. In recent studies MRI methods have been developed to measure this parameter noninvasively in mice. Present techniques require additional hardware for cardiac and respiratory gating. In this work a robust self-gated measurement of the local PWV in mice without the need of triggering probes is proposed., Methods: The local PWV of 6-months-old wild-type C57BL/6J mice (n=6) was measured in the abdominal aorta with a retrospectively triggered radial Phase Contrast (PC) MR sequence using the flow-area (QA) method. A navigator signal was extracted from the CMR data of highly asymmetric radial projections with short repetition time (TR=3 ms) and post-processed with high-pass and low-pass filters for retrospective cardiac and respiratory gating. The self-gating signal was used for a reconstruction of high-resolution Cine frames of the aortic motion. To assess the local PWV the volume flow Q and the cross-sectional area A of the aorta were determined. The results were compared with the values measured with a triggered Cartesian and an undersampled triggered radial PC-Cine sequence., Results: In all examined animals a self-gating signal could be extracted and used for retrospective breath-gating and PC-Cine reconstruction. With the non-triggered measurement PWV values of 2.3±0.2 m/s were determined. These values are in agreement with those measured with the triggered Cartesian (2.4±0.2 m/s) and the triggered radial (2.3±0.2 m/s) measurement. Due to the strong robustness of the radial trajectory against undersampling an acceleration of more than two relative to the prospectively triggered Cartesian sampling could be achieved with the retrospective method., Conclusion: With the radial flow-encoding sequence the extraction of a self-gating signal is feasible. The retrospective method enables a robust and fast measurement of the local PWV without the need of additional trigger hardware.

Background & Aims: Endoscopic injection of botulinum toxin (BTX) has shown benefits for patients with diffuse esophageal spasm (DES) and nutcracker esophagus (NE) in small uncontrolled trials. We investigated the effect of BTX on symptoms of patients with DES or NE and assessed manometry findings in a prospective, double-blind, randomized, controlled study., Methods: We assessed 22 patients with dysphagia-predominant, manometry-confirmed DES or NE (6 men; age, 63 ± 2 y) at a tertiary care medical center. Patients were given injections of BTX (8 × 12.5 U) or saline (8 × 0.5 mL) in 4 quadrants, at 2 and 7 cm above the esophagogastric junction. After 1 month, patients crossed over between groups and received endoscopic injections of BTX or saline. When the study began and 4 weeks after each injection, the patients were assessed by esophageal manometry and completed a symptom questionnaire (to determine solid and liquid dysphagia, chest pain, and regurgitation and heartburn; all scored 0-4). Responders were defined based on modified Vantrappen criteria for achalasia., Results: After BTX injections, patients had significant decreases in total symptom scores (sum of solid and liquid dysphagia and chest pain; from 7.6 ± 0.7 to 4.8 ± 0.8; P = .01); this decrease was not observed in patients who received saline injections. Moreover, BTX injection stabilized unintentional weight loss (weight gain of 0.3 ± 0.3 after BTX injection vs further weight loss of 1.6 ± 0.5 kg after saline injection; P = .01). Fifty percent of patients had a response 1 month after BTX injection, compared with 10% after saline injection (P = .04); 30% still had a response 1 year after BTX injection. BTX injection also caused a significant decrease in the mean esophagogastric junction pressure, compared with baseline (15.8 ± 1.7 vs 24.0 ± 2.8 mm Hg; P = .02)., Conclusions: In a prospective controlled study of patients with DES and NE, injections of BTX reduced symptoms and stabilized unintentional weight loss., Trial Registry: http://www.targid.eu, ML2669, ML6294., (Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Background: The utility of combined oesophageal pressure-impedance recording has been enhanced by automation of data analysis., Objective: To understand how oesophageal function as measured by automated impedance manometry (AIM) pressure-flow analysis varies with bolus characteristics and subjective perception of bolus passage., Methods: Oesophageal pressure-impedance recordings of 5 and 10 ml liquid or viscous swallows and 2 and 4 cm solid swallows from 20 healthy control subjects (five male; 25-73 years) were analysed. Metrics indicative of bolus pressurization (intrabolus pressure and intrabolus pressure slope) were derived. Bolus flow resistance, the relationship between bolus pressurization and flow timing, was assessed using a pressure-flow index. Bolus retention was assessed using the ratio of nadir impedance to peak pressure impedance (impedance ratio). Subjective perception of bolus passage was assessed swallow by swallow., Results: Viscosity increased the bolus flow resistance and reduced bolus clearance. Responses to boluses of larger volume and more viscous consistency revealed a positive correlation between bolus pressurization and oesophageal peak pressure. Flow resistance was higher in subjects who perceived bolus hold up of solids., Conclusions: Bolus volume and bolus type alter oesophageal function and impact AIM analysis metrics descriptive of oesophageal function. Perception of bolus transit was associated with heightened bolus pressurization relative to bolus flow.

Automated impedance manometry (AIM) analysis measures swallow variables defining bolus timing, pressure, contractile vigour, and bolus presence, which are combined to derive a swallow risk index (SRI) correlating with aspiration. In a heterogeneous cohort of dysphagia patients, we assessed the impact of bolus volume and viscosity on AIM variables. We studied 40 patients (average age = 46 years). Swallowing of boluses was recorded with manometry, impedance, and videofluoroscopy. AIMplot software was used to derive functional variables: peak pressure (PeakP), pressure at nadir impedance (PNadImp), time from nadir impedance to peak pressure (TNadImp-PeakP), the interval of impedance drop in the distal pharynx (flow interval, FI), upper oesophageal sphincter (UES) relaxation interval (UES RI), nadir UES pressure (Nad UESP), UES intrabolus pressure (UES IBP), and UES resistance. The SRI was derived using the formula SRI = (FI * PNadImp)/(PeakP * (TNadImp-PeakP + 1)) * 100. A total of 173 liquid, 44 semisolid, and 33 solid boluses were analysed. The SRI was elevated in relation to aspiration. PeakP increased with volume. SRI was not significantly altered by bolus volume. PNadImp, UES IBP, and UES resistance increased with viscosity. SRI was lower with increased viscosity. In patients with dysphagia, the SRI is elevated in relation to aspiration, reduced by bolus viscosity, and not affected by bolus volume. These data provide evidence that pharyngeal AIM analysis may have clinical utility for assessing deglutitive aspiration risk to liquid boluses.

Objectives/hypothesis: To use classification algorithms to classify swallows as safe, penetration, or aspiration based on measurements obtained from pharyngeal high-resolution manometry (HRM) with impedance., Study Design: Case series evaluating new method of data analysis., Methods: Multilayer perceptron, an artificial neural network (ANN), was evaluated for its ability to classify swallows as safe, penetration, or aspiration. Data were collected from 25 disordered subjects swallowing 5- or 10-mL boluses. Following extraction of relevant parameters, a subset of the data was used to train the models, and the remaining swallows were then independently classified by the ANN., Results: A classification accuracy of 89.4 ± 2.4% was achieved when including all parameters. Including only manometry-related parameters yielded a classification accuracy of 85.0 ± 6.0%, whereas including only impedance-related parameters yielded a classification accuracy of 76.0 ± 4.9%. Receiver operating characteristic analysis yielded areas under the curve of 0.8912 for safe, 0.8187 for aspiration, and 0.8014 for penetration., Conclusions: Classification models show high accuracy in classifying swallows from dysphagic patients as safe or unsafe. HRM-impedance with ANN represents one method that could be used clinically to screen for patients at risk for penetration or aspiration., (Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.)

Discussion of an overlap between specific language impairment (SLI) and autism spectrum disorder (ASD) is on going. The most intriguing overlap between both phenotypes is the similarity in the observed language deficits described in SLI and a subgroup of ASD with co-occurring linguistic impairment, ASD-LI. Examining whether a similar neuroanatomical substrate underlies this phenotypical linguistic overlap, we studied the white matter microstructural properties of the superior longitudinal fascicle (SLF) of 19 ASD-LI adolescents (mean age 13.8 ± 1.6 years) and 21 age-matched controls and compared them with 13 SLI children (mean age 10.1 ± 0.4 years) and 12 age-matched controls. A linguistic profile assessment and a diffusion tensor imaging analysis of the SLF were performed. Linguistic testing revealed a mixed receptive-expressive disorder profile in both groups, confirming their overlap at phenotypical level. At neuroanatomical level, no significant differences in mean SLF fractional anisotropy (FA) and mean SLF apparent diffusion coefficient values between ASD-LI participants and controls were seen. By contrast, the mean SLF FA was significantly reduced in the SLI children as compared with their controls. The observation of structural SLF disturbances in SLI but not in ASD-LI suggests the existence of a different neuroanatomical substrate for the language deficits in both disorders.

Objective: A large proportion of patients with Parkinson's disease develop dysphagia during the course of the disease. Dysphagia in Parkinson's disease affects different phases of deglutition, has a strong impact on quality of life and may cause severe complications, i.e., aspirational pneumonia. So far, little is known on how deep-brain-stimulation of the subthalamic nucleus influences deglutition in PD., Methods: Videofluoroscopic swallowing studies on 18 patients with Parkinson's disease, which had been performed preoperatively, and postoperatively with deep-brain-stimulation-on and deep-brain-stimulation-off, were analyzed retrospectively. The patients were examined in each condition with three consistencies (viscous, fluid and solid). The 'New Zealand index for multidisciplinary evaluation of swallowing (NZIMES) Subscale One' for qualitative and 'Logemann-MBS-Parameters' for quantitative evaluation were assessed., Results: Preoperatively, none of the patients presented with clinically relevant signs of dysphagia. While postoperatively, the mean daily levodopa equivalent dosage was reduced by 50% and deep-brain-stimulation led to a 50% improvement in motor symptoms measured by the UPDRS III, no clinically relevant influence of deep-brain-stimulation-on swallowing was observed using qualitative parameters (NZIMES). However quantitative parameters (Logemann scale) found significant changes of pharyngeal parameters with deep-brain-stimulation-on as compared to preoperative condition and deep-brain-stimulation-off mostly with fluid consistency., Conclusion: In Parkinson patients without dysphagia deep-brain-stimulation of the subthalamic nucleus modulates the pharyngeal deglutition phase but has no clinically relevant influence on deglutition. Further studies are needed to test if deep-brain-stimulation is a therapeutic option for patients with swallowing disorders., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

There are limited data concerning the effects of 5-HT(1A) receptor activation on esophageal motility. Sumatriptan, a 5-HT(1A) receptor agonist, was recently reported to enhance esophageal peristalsis after intravenous administration. Buspirone, an orally available 5-HT(1A) receptor agonist, was shown to modulate gastroduodenal motor function. Our aim was to evaluate the effect of buspirone on esophageal motility of healthy volunteers. On two separate visits, 20 healthy volunteers aged 21-29 years (nine women) underwent esophageal manometry before and 10, 30, and 60 minutes after the administration of buspirone 20-mg or placebo capsule, according to a double-blind crossover design. At each time point, we compared buspirone and placebo effects on: resting pressure of the lower esophageal sphincter (LES); residual pressure and duration of LES relaxation; amplitude, duration, and onset velocity of esophageal body contractions, during 10 swallows of 5 mL of water. Significant analysis of variance differences (P < 0.05) are presented as mean ± standard deviation. Buspirone significantly increased mean distal esophageal wave amplitude (151 vs. 87 mmHg, P < 0.05) and duration (6.1 vs. 4.2 seconds, P < 0.05). Similarly, buspirone significantly increased mean LES resting pressure (26 vs. 21 mmHg, P < 0.05) and mean residual LES pressure (7.9 vs. 2 mmHg, P < 0.05), whereas reduced mean LES relaxation duration (7.2 vs. 8.0 seconds, P < 0.05) and mean distal onset velocity (7.6 vs. 14.7 cm/second, P < 0.05). Buspirone enhances esophageal peristalsis and LES function in healthy volunteers. Further study is warranted on the effects of buspirone on esophageal function and symptoms in patients with ineffective esophageal motility., (© 2011 Copyright the Authors. Journal compilation © 2011, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.)

The measurement of the physical extent of opening of the upper esophageal sphincter (UES) during bolus swallowing has to date relied on videofluoroscopy. Theoretically luminal impedance measured during bolus flow should be influenced by luminal diameter. In this study, we measured the UES nadir impedance (lowest value of impedance) during bolus swallowing and assessed it as a potential correlate of UES diameter that can be determined nonradiologically. In 40 patients with dysphagia, bolus swallowing of liquids, semisolids, and solids was recorded with manometry, impedance, and videofluoroscopy. During swallows, the UES opening diameter (in the lateral fluoroscopic view) was measured and compared with automated impedance manometry (AIM)-derived swallow function variables and UES nadir impedance as well as high-resolution manometry-derived UES relaxation pressure variables. Of all measured variables, UES nadir impedance was the most strongly correlated with UES opening diameter. Narrower diameter correlated with higher impedance (r = -0.478, P < 0.001). Patients with <10 mm, 10-14 mm (normal), and ≥ 15 mm UES diameter had average UES nadir impedances of 498 ± 39 Ohms, 369 ± 31 Ohms, and 293 ± 17 Ohms, respectively (ANOVA P = 0.005). A higher swallow risk index, indicative of poor pharyngeal swallow function, was associated with narrower UES diameter and higher UES nadir impedance during swallowing. In contrast, UES relaxation pressure variables were not significantly altered in relation to UES diameter. We concluded that the UES nadir impedance correlates with opening diameter of the UES during bolus flow. This variable, when combined with other pharyngeal AIM analysis variables, may allow characterization of the pathophysiology of swallowing dysfunction.

Background & Aims: In patients with clinically suspected rumination, esophageal impedance manometry differentiates episodes of rumination (involuntary straining with intragastric pressure increases) from aerophagia/supragastric belching. Treatment options are limited and focused on behavioral therapy. Baclofen, an agonist of the γ-aminobutyric acid B receptor, increases lower esophageal sphincter pressure and decreases swallowing rate. We investigated its effects in these patients., Methods: High-resolution manometry-impedance recordings were taken from 12 patients (8 women; mean age, 45 years; range, 18-89 years) with clinically suspected rumination or supragastric belching before and during treatment with baclofen (10 mg, 3 times daily). After 30 minutes of recordings, patients received a 1000-kcal solid meal; recordings were then continued for 1 hour. Patients were asked to register symptoms with an event marker. The number of symptoms registered and number and type of flow events were compared before and during treatment., Results: An average of 20 symptom markers (range, 14-34) were recorded at baseline (10 [range, 4-25] for belching and 9 [range, 0-11] for regurgitation). This was significantly reduced to 6 (range, 2-22) (3 [range, 1-15] for belching and 1 [range, 0-13] for regurgitation) during baclofen treatment (P = .01). The number of flow events (473 at baseline [42 reflux, 192 rumination, 188 supragastric belching, and 42 aerophagia]) was significantly reduced to 282 (32 reflux, 99 rumination, 123 supragastric belching, and 13 aerophagia) during baclofen therapy (P = .02). The reduction in flow events correlated with the increase in lower esophageal sphincter pressure (r = -0.62; P = .03) and reduction in swallowing frequency (r = 0.64; P = .02)., Conclusions: Baclofen is an effective treatment for patients with rumination or supragastric belching/aerophagia., (Copyright © 2012 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Background & Aims: Automated impedance manometry analysis (AIM) measures swallow function variables that define bolus timing, intrabolus pressure, contractile vigor, and bolus presence; these are combined to derive a swallow risk index (SRI) that is correlated with pharyngeal dysfunction and aspiration. We assessed intra-rater and inter-rater reproducibility of AIM analysis-derived variables; the diagnostic accuracy of AIM-based criteria for detecting aspiration was determined by using expertly scored videofluoroscopy as the standard., Methods: Data on 50 bolus swallows of 10 mL each were randomly selected from a database of swallows that were simultaneously recorded with impedance, manometry, and videofluoroscopy. Data were divided into 5 subgroups of 10 swallows for analysis: 10 dysphagic liquid, 10 dysphagic liquid with aspiration, 10 dysphagic semisolid, 10 control liquid, and 10 control semisolid. Repeat analyses were performed by 10 observers with varying levels of expertise in manometry by using purpose-designed software (AIMplot). Swallow videos were scored by 4 experts by using the penetration-aspiration scale (PAS) score. Reproducibility of calculation of swallow function variables and the SRI and PAS was assessed by using intraclass correlation coefficient (ICC). The majority consensus of expert PAS scores was used to dichotomously define aspiration (consensus PAS >3). Observer analyses were compared by Cohen κ statistical analysis., Results: The intra-rater and inter-rater reproducibility of swallow function variables was high (SRI mean intra-rater ICC, 0.97 and mean inter-rater ICC, 0.91). SRI >15-20 was optimal for detecting the presence of aspiration during liquid bolus swallows with an almost perfect agreement with expert scoring of videofluoroscopy (κ > 0.8)., Conclusions: AIM analysis has high intra-rater and inter-rater reproducibility, and among observers of varying expertise, SRI predicts the presence of aspiration., (Copyright © 2011 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Objectives: This validation study evaluates a new manometry impedance-based approach for the objective assessment of pharyngeal function relevant to postswallow bolus residue., Methods: We studied 23 adult and pediatric dysphagic patients who were all referred for a videofluoroscopy, and compared these patients with 10 adult controls. The pharyngeal phase of swallowing of semisolid boluses was recorded with manometry and impedance. Fluoroscopic evidence of postswallow bolus residue was scored. Pharyngeal pressure impedance profiles were analyzed. Computational algorithms measured peak pressure (Peak P), pressure at nadir impedance (PNadImp), time from nadir impedance to PeakP (PNadImp-PeakP), the duration of impedance drop in the distal pharynx (flow interval), upper esophaghageal sphincter (UES) relaxation interval (UES-RI), nadir UES pressure (NadUESP), UES intrabolus pressure (UES-IBP), and UES resistance. A swallow risk index (SRI) was derived by the formula: SRI=(FI × PNadImp)/(PeakP × (TNadImp-PeakP+1)) × 100., Results: In all, 76 patient swallows (35 with residue) and 39 control swallows (12 with residue) were analyzed. Different functional variables were found to be altered in relation to residue. In both controls and patients, flow interval was longer in relation to residue. In controls, but not patients, residue was associated with an increased PNadImp (suggestive of increased pharyngeal IBP). Controls with residue had increased UES-IBP, NadUESP, and UES resistance compared with patients with residue. Residue in patients was related to a prolonged UES-RI. The SRI was elevated in relation to residue in both controls and patients and an average SRI of 9 was optimally predictive of residue (sensitivity 75% and specificity 80%)., Conclusions: We present novel findings in control subjects and dysphagic patients showing that combined manometry and impedance recordings can be objectively analyzed to derive pressure-flow variables that are altered in relation to the bolus residual and can be combined to predict ineffective pharyngeal swallowing.

Background: Poor feeding is a common cause of prolonged hospitalization of preterm infants. Pharyngeal and upper esophageal sphincter (UES) function of preterm infants has been technically difficult to assess and is therefore poorly characterized. The aim of this study was to assess the development of pharyngeal motility, UES function, and their coordination during nutritive swallowing in preterm infants., Methods: Development of swallowing was assessed in 18 preterm infants. High resolution manometry was performed at first oral feeding attempt (31-32 week) and then weekly for 4 weeks. Pharyngeal and UES pressure changes were characterized in 980 swallows., Key Results: During swallowing, we observed an age-related increase in peak pharyngeal pressure at the laryngeal inlet (1 cm above UES) but an age-related decrease in the time required for the UES to fully relax to nadir. Analysis of the timing of proximal pharyngeal contractile peak and UES nadir showed that the UES was not fully relaxed when bolus propulsive forces were at their peak in the youngest infants., Conclusions & Inferences: Results show developmental changes in infant swallow physiology that can be clearly linked to the effectiveness of nutritive swallowing. Most preterm infants demonstrated poor pharyngeal pressures at the laryngeal inlet coupled with poor coordination of pharyngeal propulsion with UES relaxation. These pressure patterns were less efficient than those demonstrated by older infants who were more adept at feeding. These observations may explain why infants under 34 weeks are physiologically unable to feed effectively and experience frequent choking and fatigue during feeding., (© 2011 Blackwell Publishing Ltd.)

Background: The role of pharyngeal impedance recording for assessing pharyngeal function is yet to be established. The aim of this study was to evaluate impedance flow interval, a novel parameter, in relation to bolus residue and the occurrence of aspiration. The effect of catheter configuration was also assessed., Methods: We studied 12 children (1.8-13.5years) with cerebral palsy, who were all referred for a videofluoroscopy due to suspected aspiration risk. Pharyngeal impedance patterns during bolus swallowing were recorded simultaneously with fluoroscopy. Two different catheter configurations were used: Catheter 1, 1.9mm diameter with 1cm electrodes and Catheter 2, 3.2mm diameter with 2cm electrodes. The flow interval was based on the objective assessment of impedance drop and recovery across multiple impedance segments and was correlated with fluoroscopic evidence of postswallow bolus residue and deglutitive aspiration., Key Results: One hundred and thirty two liquid swallows were evaluated. Patient swallows with aspiration compared to those without aspiration had a longer flow interval (Cath 1 P=0.005; Cath 2 P<0.001). Patient swallows with residue had a longer flow interval, however this was only significant for swallows recorded using Catheter 2 (P=0.004). Multiple logistic regressions showed that higher flow interval was a better marker of the presence of aspiration [odds ratio (OR) 13.4 (3.0, 59.2); P<0.001] than the presence of residue [OR 3.8 (1.4, 10.3); P=0.01]., Conclusions & Inferences: We present novel findings suggesting that impedance measurement can detect alterations in flow characteristics of pharyngeal swallow that have the potential to predict to deglutitive aspiration risk., (© 2010 Blackwell Publishing Ltd.)

Background & Aims: Pharyngeal manometry and impedance provide information on swallow function. We developed a new analysis approach for assessment of aspiration risk., Methods: We studied 20 patients (30-95 years old) with suspected aspiration who were referred for videofluoroscopy, along with controls (ages 24-47 years). The pharyngeal phase of liquid bolus swallowing was recorded with manometry and impedance. Data from the first swallow of a bolus and subsequent clearing swallows were analyzed. We scored fluoroscopic evidence of aspiration and investigated a range of computationally derived functional variables. Of these, 4 stood out as having high diagnostic value: peak pressure (PeakP), pressure at nadir impedance (PNadImp), time from nadir impedance to peak pressure (TNadImp-PeakP), and the interval of impedance drop in the distal pharynx (flow interval)., Results: During 54 liquid, first swallows and 40 clearing swallows, aspiration was observed in 35 (13 patients). Compared to those of controls, patient swallows were characterized by a lower PeakP, higher PNadImp, longer flow interval, and shorter TNadImp-PeakP. A Swallow Risk Index (SRI), designed to identify dysfunctions associated with aspiration, was developed from iterative evaluations of variables. The average first swallow SRI correlated with the average aspiration score (r = 0.846, P < .00001 for Spearman Rank Correlation). An average SRI of 15, when used as a cutoff, predicted aspiration during fluoroscopy for this cohort (κ = 1.0)., Conclusions: Pressure-flow variables derived from automated analysis of combined manometric/impedance measurements provide valuable diagnostic information. When combined into an SRI, these measurements are a robust predictor of aspiration., (Copyright © 2011 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Background: Rumination is an eating disorder clinically suspected in the presence of chronic regurgitation of recently ingested food with subsequent re-mastication and swallowing. Oesophageal manometry is currently used to confirm the diagnosis, however, it is difficult to distinguish rumination from postprandial belching-regurgitation, being the manometric pattern identical in both situations. Oesophageal impedance allows recognition between liquid and gas gastro-oesophageal reflux. Our aims were (i) to improve diagnosis of rumination using combined impedance-manometry (ii) to assess the gastro-oesophageal pressure-flow pattern in rumination events., Methods: Sixteen patients with clinically suspected rumination underwent impedance-manometry monitoring for 1 h after a solid liquid meal. Manometry was first analysed blindly to the impedance pattern. All events marked by the patients and straining episodes were identified. After the manometric analysis, impedance tracings were unblinded and each straining episode was analysed for presence of liquid and/or gas oesophageal retrograde flow. Only rumination events were included for additional evaluation., Key Results: Postprandial manometry showed a pattern compatible with rumination in 12/16 patients. In total, impedance-manometry confirmed the clinical diagnosis of rumination in eight of the 16 patients with clinical suspicion of rumination. In 102 clearly identified rumination events, the onset of gastric strain (manometry) occurred before the onset of oesophageal liquid retroflow (impedance) in 58% of cases or simultaneously in 37% of cases. In most cases (86%), oesophageal retrograde flow started after an initial increase in abdominal pressure but before the peak gastric strain pressure., Conclusions & Inferences: Postprandial impedance-manometry monitoring improves diagnosis of rumination because it allows distinction between rumination and postprandial belching and regurgitation. During rumination, oesophageal liquid retrograde flow is first driven by an early small rise in intragastric pressure preceding the peak pressure observed during straining.

Unlabelled: Multichannel intraluminal impedance (MII) recording allows assessment of flow through the oesophagus and differentiation between liquid and gas contents. Existing MII criteria for recognition of gas gastro-oesophageal reflux (GOR) have not been validated during known gas GOR in humans., Aims: (i) Characterize MII patterns of known gas GOR and optimize criteria. (ii) Clarify interrelationships between magnitude of maximal impedance change, luminal diameter and electrode-mucosa contact. Ten healthy volunteers (six male, 21-37 years) were studied using an oesophageal MII-manometry catheter. After catheter placement, subjects were asked to drink 600 mL of carbonated soft drink. Recordings were made for 20 min and the protocol repeated. Reported belches confirmed manometrically (triggered by transient lower oesophageal sphincter relaxations) were included for analysis. Those episodes were compared against commonly used criteria. Another five subjects (three male, 26-52 years) underwent simultaneous MII and videofluoroscopy using the same protocol. Videofluoroscopic images were analyzed for luminal diameter and the presence of electrode-mucosa contact. All analyzed gas GOR episodes (n = 88) were associated with a pattern of impedance rise which was either retrograde (62.5%), synchronous (19.3%) or antegrade (18.2%). Depending on the exact criteria used, sensitivity ranged from 33% to 75%. A multivariate regression model including luminal diameter and the presence of electrode-mucosa contact as independent factors accounted for 53% of all variation in impedance changes. In conclusion, a significant number of gas GOR episodes does not meet criteria for their recognition. New criteria are proposed to include specific antegrade patterns of impedance rise. Luminal diameter and the extent of contact between the oesophageal mucosa and MII-electrodes influence the magnitude and patterning of impedance change.

Multichannel intraluminal impedance (MII) detects bolus flow through a healthy pharynx. The aim of this study was to determine whether the technique detects bolus flow and retention in patients with pharyngeal dysphagia; develop appropriate impedance-based criteria for assessing patients and to provide some preliminary insights into the clinical utility of the technique. Pharyngo-oesophageal pressure and impedance were recorded simultaneously with videofluoroscopy (VF) during swallows in six patients with dysphagia. Agreement, as to the presence or absence of bolus material, between the VF and MII was expressed using the Cohen's Kappa statistic. To test whether the impedance criteria for the detection of bolus passage in dysphagia could be improved, a Kappa statistic was calculated in an iterative process for a range of impedance values (100%-0%) defining bolus head entry and bolus tail clearance from the pharynx. Bolus presence according to the MII criteria previously derived by us in healthy controls demonstrated a modest correlation with VF when applied to this dysphagia population [0.37, 0.5 and 0.58 in the hypopharynx, upper oesophageal sphincter (UOS) and proximal oesophagus respectively]. In the patient population, the optimal impedance criteria were 50% for bolus head entry and 20% for bolus tail clearance. Adopting these criteria demonstrated enhanced agreement between VF and impedance; yielding Kappa coefficients of 0.42 in the hypopharynx, 0.54 in the UOS and 0.62 in the proximal oesophagus. With the adoption of appropriate criteria, pharyngeal impedance measurement can accurately detect bolus passage and failed or impaired clearance during swallowing in patients with dysphagia.

The impedance criteria for the detection of the arrival of bolus head and clearance of bolus tail in the pharynx have not been defined, and may differ from accepted criteria used in the oesophagus. Our aim was to define the optimal impedance criteria that most accurately defined passage of the swallowed bolus moving through the pharyngo-oesophageal segment. In eight healthy volunteers, an assembly incorporating seven impedance-measuring segments was positioned across the pharyngo-oesophageal segment, and subjects swallowed liquid and semisolid radio-opaque boluses (2-20 mL) while impedance was simultaneously recorded with videofluoroscopic images. To derive the optimal criteria, in an iterative process we correlated impedance defined bolus presence with fluoroscopy (Cohen's Kappa) for a range of impedance cut-off values from 100% to 0% for both the initial fall, and recovery of impedance. Bolus presence in the pharynx, as determined by the 'standard' criteria (50% drop and recovery to 50% of baseline), correlated very modestly with videofluoroscopy (kappa approximately 0.35). The criteria that most accurately defined bolus passage varied between pharyngeal regions. Threshold (% of baseline) for bolus head entry into the region ranged from 71% to 80%. Threshold for bolus tail clearance varied from nadir to 19%. Correlation of impedance with videofluoroscopy improved to kappa approximately 0.6 with the above criteria. The impedance criteria defining bolus presence across the pharyngo-oesophageal segment differ from those adopted in the oesophagus. Pharyngeal impedance provides an accurate, non-radiological indicator of bolus transit through the pharynx.

Objective: The aim of this pilot study is to demonstrate the technical and clinical feasibility of videomanometry to assess swallowing in infants and young children presenting with dysphagia., Methods: We performed videomanometry using a combined solid state catheter and a perfused manometric sleeve assembly in eight patients (2-28 months) presenting at a tertiary care institution with symptoms of dysphagia. Solid state sensors were positioned at the inferior margin of the valleculae and the laryngeal entrance and the upper esophageal sphincter sleeve assembly was positioned across the upper esophageal sphincter. Manometric and radiological data were digitally recorded simultaneously using a manofluoromixer. Liquid bolus swallows were recorded in each patient and different geometric parameters of deglutition were measured., Results: Placement and fixation of the catheter was well tolerated and no adverse effects occurred. The children easily swallowed test boluses as selected during clinical examination. Results indicate that pharyngeal contractility can be evaluated as well as relaxation of the upper esophageal sphincter during swallowing of wet boluses., Conclusions: Videomanometry in young children is feasible with the limited discomfort of the placement of the catheter. It is a promising technique that will allow more accurate assessment of pediatric oropharyngeal dysphagia.

Intraluminal impedance, a nonradiological method for assessing bolus flow within the gut, may be suitable for investigating pharyngeal disorders. This study evaluated an impedance technique for the detection of pharyngeal bolus flow during swallowing. Patterns of pharyngoesophageal pressure and impedance were simultaneously recorded with videofluoroscopy in 10 healthy volunteers during swallowing of liquid, semisolid, and solid boluses. The timing of bolus head and tail passage recorded by fluoroscopy was correlated with the timing of impedance drop and recovery at each recording site. Bolus swallowing produced a drop in impedance from baseline followed by a recovery to at least 50% of baseline. The timing of the pharyngeal and esophageal impedance drop correlated with the timing of the arrival of the bolus head. In the pharynx, the timing of impedance recovery was delayed relative to the timing of clearance of the bolus tail. In contrast, in the upper esophageal sphincter (UES) and proximal esophagus, the timing of impedance recovery correlated well with the timing of clearance of the bolus tail. Impedance-based estimates of pharyngoesophageal bolus clearance time correlated with true pharyngoesophageal bolus clearance time. Patterns of intraluminal impedance recorded in the pharynx during bolus swallowing are therefore more complex than those in the esophagus. During swallowing, mucosal contact between the tongue base and posterior pharyngeal wall prolongs the duration of pharyngeal impedance drop, leading to overestimation of bolus tail timing. Therefore, we conclude that intraluminal impedance measurement does not accurately reflect the bolus transit in the pharynx but does accurately reflect bolus transit across the UES and below.

Objectives: To combine manometry and impedance to characterize the mechanisms of gastroesophageal reflux (GER) and to explore their relation to the rate of gastric emptying (GE) and body position., Study Design: Ten healthy preterm infants (35 to 37 weeks' postmenstrual age) were studied with the use of a micromanometric/impedance assembly. Episodes of GER were identified by impedance, and the mechanism(s) of GER triggering and GER clearance were characterized. GE was determined with a C13Na-octanoate breath test., Results: Gastroesophageal reflux episodes (n=89) were recorded, consisting of 74% liquid, 14% gas, and 12% mixed. Transient lower esophageal sphincter relaxation (TLESR) was the predominant mechanism of reflux, triggering 83% of GER. Of 92 TLESRs recorded, 27% were not associated with reflux. Infants studied in the right lateral position had significantly (P <.01) more GER, a higher proportion of liquid GER (P <.05), and faster GE (P <.005) when compared with infants studied in the left lateral position., Conclusions: In healthy preterm infants, GER is predominantly liquid in nature. Right-side positioning is associated with increased triggering of TLESR and GER despite accelerating GE.

Background: Feeding problems are common in infants and young children. A multidisciplinary team approach contributes to better patient care. However, few quantitative data on multidisciplinary feeding assessment of children have been published. OBJECTIVES The first aim of this study was to characterize the etiology of feeding difficulties in 700 children referred for assessment of severe feeding difficulty. The authors differentiated medical, oral, and behavioral categories. The second aim was to assess the prevalence of prematurity and dysmaturity in the patients and their relationship to the type of feeding problem., Methods: Clinical data from 700 children aged less than 10 years who were examined for severe feeding problems were analyzed., Results: Close to 50% of the children had a combined medical and oral condition underlying their feeding difficulties. More than half of the children were examined for gastrointestinal conditions, particularly gastroesophageal reflux disease. Behavioral problems were more frequently seen in children aged more than 2 years. The results indicate that oral sensory-based feeding problems are related to past medical intervention. Children with feeding disorders had a significantly lower birthweight for gestational age. Preterm babies were overrepresented in this population., Conclusions: A multidisciplinary team approach is essential for assessment and management because combined medical and oral problems are the most frequent cause of pediatric feeding problems. A significant relationship was found between the type of feeding problem and age. Infants born preterm and/or with a birthweight below the tenth percentile for gestational age are at greater risk for developing feeding disorders.

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.

During the last 5 years, we diagnosed in Leuven 130 patients with a 22q11 deletion. The deletion was familial in 14 out of 110 index patients (12%), which is significantly less compared to previous studies. In 10 patients, the deletion was maternal, in 4 patients paternal. A cardiac defect was the main presenting symptom in 49% of patients. The other patients were ascertained through developmental delay (16%), behavioural disturbances (7%), otorhinolaryngological manifestations (6%), psychiatric manifestations (3%) and mental retardation (2%). In one patient hypocalcemia was the presenting symptom. In another patient the severe immune deficiency led to diagnosis. Most patients presented a wide variety of the classical features of the Velo-Cardio-Facial syndrome. Velopharyngeal incompetence, learning difficulties or mostly mild mental retardation were almost always present, whereas clinical significant hypocalcemia or immune disturbances were rare. Previously un(der)recognised features include polyhydramnios, renal malformations and laryngotracheamalacia or laryngeal stenosis.

We report data on feeding and speech disorders in 50 patients with velocardiofacial syndrome. In order to contribute to delineation of type and etiology of feeding and speech problems, we compared the clinical findings in these patients with the reports in literature.

The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.