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PubMed1993

[Evaluation of velopharyngeal function using an aerophonoscope before and after surgery for snoring].

Following surgery for snoring, regardless of the technique used, velopharyngeal insufficiency remains an infrequent but disabling complication. In an attempt to assess the risk of velopharyngeal insufficiency, we used a new, simple, rapid, and noninvasive method of evaluating palatal function, the aerophonoscope. Pre and postoperative aerophonoscopic studies were carried out in 25 chronic snores undergoing a single step uvulopalatoplasty with a laser under local anesthesia. The aerophonoscope revealed signs of palatal dysfunction in 2 patients (8%) preceding surgery and confirmed the absence of palatal dysfunction in all patients following our technique of uvulopalatoplasty. We also present the aerophonoscopic findings in 3 patients with nasopharyngeal stenosis and 2 patients with velopharyngeal insufficiency following surgery for snoring.

Humans↗
PubMed1997

Immune deficiencies in chronic intestinal pseudo-obstruction.

AIM: Chronic intestinal pseudo-obstruction has been associated with urinary disorders, myopathy, and ophthalmoplegia in adults and cholelithiasis in children. We observed a high percentage of total-parenteral-nutrition-dependent patients with pseudo-obstruction and recurrent infections requiring gammaglobulin infusions. METHODS: All records for 23 children with chronic intestinal pseudo-obstruction (10 females and 13 males, mean age 9.8 y +/- 4.9 y, range 4-24 y) referred for a nutritional evaluation from 1992 to 1995 were reviewed. Chronic intestinal pseudo-obstruction was diagnosed by clinical, radiographic findings and antroduodenal manometry. Intestinal full-thickness biopsies were performed in seven children. RESULTS: Hypogammaglobulinemia was diagnosed in 18 patients (78%): 16 patients had various immunoglobulin deficiencies and 2 had selective antibody deficiency. Intravenous gammaglobulin was administered in 14 patients. Other medical conditions affecting the children are summarized as follows: autonomic dysfunction in 10 patients (43%), recurrent hypoglycemia in 9 (39%), asthma in 9 (39%), cholecystitis in 7 (30%), low serum carnitine level in 6 (26%), urinary dysfunction in 6 (26%), pancreatitis in 5 (22%), behavioral problems in 5 (22%), myopathy in 2 (9%), idiopathic thrombocytopenia in 2 (8%), velopharyngeal insufficiency in 1 (4%), oculocutaneous albinism in 1 (4%), Pierre-Robin syndrome in 1 (4%), and protein C deficiency in 1 (4%). Munchausen syndrome was suspected in two patients. CONCLUSIONS: Chronic intestinal pseudo-obstruction appears to be associated with immune deficiencies. It is unclear if the immune deficiencies, intestinal pseudo-obstruction, and the other medical conditions have a common underlying etiology. Repeated infections may be due to impaired immune function in children with chronic intestinal pseudo-obstruction. We recommend screening for immune deficiencies in children with chronic intestinal pseudo-obstruction.

Adolescent↗
PubMed1981

Assessing VP function: the lateral still technique vs. cinefluorography.

Thirty consecutive patients with clinical manifestations of velopharyngeal insufficiency were evaluated by the radiographic techniques of 70 mm lateral stills and lateral cinefluorography. The purpose of this study was to make retrospective comparisons between the actual decisions on velopharyngeal competency or incompetency which were originally made on the basis of cinefluorographic findings with those which we believe would have been made from that information obtained from lateral stills alone had the lateral stills been the only radiographic information available. The results of the comparison between the two techniques suggests that one is apt to misdiagnose the presence or absence of velopharyngeal insufficiency on the order of 30% of th time when relying on the lateral still X-ray technique alone. We attribute this potential error rate to the very limited speech sample that can be employed with the lateral still technique. With the increasing number of secondary procedures available for treating VP dysfunction it is our opinion that cine- or videofluoroscopy allows the clinician to examine additional aspects of the patient's palatal function that are as important in the final management decision as simply the identification of closure or the lack of closure of the velopharyngeal sphincter.

Adolescent↗
PubMed1981

The physiologic basis for hypernasality during connected speech in cleft palate patients: a nasendoscopic study.

A characteristic pattern of velopharyngeal movement is associated with hypernasality. Nasendoscopic examination can identify the patterns of movement of the velopharynx during connected speech. The nasendoscopic observations provide a safe, objective way of assessing the anatomic dysfunction that causes hypernasality. These observations provide a clearer rationale for the design and placement of pharyngoplasty surgery. Recognition of distinct dysfunctional patterns opens the door to nonsurgical correction of hypernaslity in selected patients using the nasendoscope and video display.

Child↗
PubMed1996

CO2 laser palatoplasty: early results.

It is now widely accepted that snoring causes significant social dysfunction. In the absence of obstructive sleep apnoea syndrome, palatal surgery offers a very good chance of eliminating or reducing snoring. The traditional operation of uvulopalatopharyngoplasty remains the 'gold standard', but may be complicated by velopharyngeal incompetence, severe post-operative pain and even nasopharyngeal stenosis. A newer technique to reduce snoring caused by palatal flutter by using a neodymnium:yttrium aluminum garnet laser to stiffen the soft palate has been introduced recently by another unit. We show that this procedure can be carried out using a CO2 laser, and present the initial results of the first 29 patients operated on at The Royal National Throat, Nose and Ear Hospital.

Carbon Dioxide↗
PubMed1997

[The child with lip, maxillary, palatal cleft].

Clefting of lip, alveolus and palate may occur in multiple variations. It causes aesthetic and functional detractions. Soft palate clefts may result in hearing-, speech- and swallowing-disorders. Therefore the otolaryngologist is a very important member in the interdisciplinary team directory. A cleft-palate child belongs to an interdisciplinary consulting hour in special hospitals, where different medical specialties are involved. Most important for a sufficient medical rehabilitation are maxillofacial surgery, otolaryngology, paediatrics, plastic surgery, speech therapy, psychology and human genetics. Also many other specialties may be involved. The cleft demands a complete follow up from the child's birth until it is grown up. Hearing disorders are caused by eustachian tube disfunction. There is a high prevalence of hearing loss and middle ear diseases in cleft palate patients. Hearing losses due to middle ear effusions in the very young child. Without therapy up to 50% of the cleft palate population will develop chronic middle ear diseases with and without cholesteatomas. Early and consequent therapy with myringotomy and insertion of a tympanostomy ventilation tube is necessary and helps to avoid chronic hearing problems. There is no general accepted system of speech disorders in cleft palate patients because of the difference in shaping of the cleft and rehabilitation development. Essential for speech rehabilitation are an intact velopharyngeal system and a keen sense of hearing. Both of it is disturbed in cleft palate children. Speech disorders are treated by speech therapists with prior consultation of the interdisciplinary team. The author presents a system of primary, secondary and tertiary speech disorders in cleft palate children. Primary speech disorders are caused by faulty velopharyngeal valving, offering in hypernasality, weak plosives, fricatives and affricates. Secondary speech disorders are substitute mechanisms for plosives, nasal and pharyngeal sounds. Tertiary speech disorders are hyper- and hypofunctional dysphonias following primary and secondary speech dysfunctions.

Adolescent↗
PubMed1983

Pediatric otolaryngological relations of velopharyngeal insufficiency.

On the basis of his examinations, the author presents data and gives his opinion on the classification, etiopathogenesis, diagnostics, phonosurgery, and therapy of the otological complications of velopharyngeal insufficiency (VPI). VPI may be organic or functional, produced by congenital or acquired causes, due to paresis or local disorders, but most frequently occurs as a result of cleft palate. Usually, diagnosis is evident; however, the verification of the milder cases of anatomic disproportion and/or muscular dysfunction is sometimes difficult. For the examination of dubious cases the author suggests, apart from the well-known methods (auditive evaluation, function tests, nasopharyngoscopy, velopharyngometry, supersound, X-ray, manometric measurements, speech intelligibility tests, acoustic analyses, etc.), electrophysiological and enzyme-histochemical measurements. Careful examination is most important, also on account of the possible indication of phonosurgery. An operation is to be proposed when a progressive neuro-myogenic process can thus be excluded, or when logopedic treatment is hopeless. The author has done 500 flap operations (as well as 2500 cleft palate and cleft lip ones) in the course of 30 years with a 98% result of anatomical healing. According to the pathological situation he employed 10 variants of the operation. As a result, hyperrhinophony ceased or became minimal in 90% of the cases; speech intelligibility was judged good or excellent in 74%. Functional effects can be influenced by the following: the width of the flap, the functional ability of the pharyngeal muscles, the cause of VPI, the patient's age, and the state of ears and hearing. In case of VPI otological and audiological examinations are routinely required. The author considers adenoidectomy and grommet-insertion to be alternative methods. One of the most important factors in achieving good results is teamwork, which the author discusses on the basis of the model developed at the Heim Pál Hospital for Sick Children, Budapest.

Adolescent↗
PubMed1996

Speech outcome following palatoplasty in primary school children: do lay peer observers agree with speech pathologists?

The aim of this study was twofold: (1) to test the ability of normal children to discriminate the speech of children with repaired cleft palate from the speech of unaffected peers and (2) to compare these naive assessments of speech acceptability with the sophisticated assessments of speech pathologists. The study group (subjects) was composed of 21 children of school age (aged 8 to 12 years) who had undergone palatoplasty at a single cleft center and 16 matched controls. The listening team (student raters) was composed of 20 children who were matched to the subjects for age, sex, and other variables. Randomized master audio-tape recordings of the children who had undergone palatoplasty were presented in blinded fashion and random order to student raters who were inexperienced in the evaluation of patients with speech dysfunction. The same sound recordings were evaluated by an experienced panel of extramural speech pathologists whose intrarater and interrater reliabilities were known; they were not direct care providers. Additionally, the master tape was presented in blinded fashion and random order to the velopharyngeal staff at the cleft center for intramural assessment. Comparison of these assessment methodologies forms the basis of this report. Naive raters were insensitive to speech differences in the control and cleft palate groups. Differences in the mean scores for the groups never approached statistical significance, and there was adequate power to discern a difference of 0.75 on a 7-point scale. Expert raters were sensitive to differences in resonance and intelligibility in the control and cleft palate groups but not to other aspects of speech. The expert raters recommended further evaluation of cleft palate patients more often than control patients. Speech pathologists discern differences that the laity does not. Consideration should be given to the utilization of untrained listeners to add real-life significance to clinical speech assessments. Peer group evaluations of speech acceptability may define the morbidity of cleft palate speech in terms that are most relevant to the patients themselves and may safeguard against the possibility of offering treatment that may be unnecessary.

Child↗
PubMed2001

[Pseudohypoparathyroidism or hypoparathyroidism? A misleading clinical presentation].

We report the case of a 27-year old woman who presented hypocalcemia and hyperphosphoremia during her first pregnancy. Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, obesity, round face, brachymetacarpy and mental retardation. However, the diagnosis of pseudohypopara thyroidism type Ia was ruled out due to low PTH level (10 pg/ml). The patient's 22q11 microdeletion was suspected and identified because of the association of severe neonatal hypocalcemia, abnormal face and renal malformation in her children. Deletion 22q11 leads to various syndromes, including Di George syndrome, also referred to as CATCH 22 syndrome (Cardiac defect (C), Abnormal face (A), Thymic hypoplasia (T), Cleft palate (C) and Hypocalcemia (H)). Retrospectively, the patient presented with symptoms suggestive of CATCH 22: abnormal face, hypernasal voice suggestive of velopharyngeal insufficiency, mental retardation, recurrent otitis in childhood. It is also noteworthy that there was an idiopathic thrombocytopenic purpura. In conclusion, while the phenotype was suggestive of Albright's hereditary osteodystrophy, the constatation of a low PTH level would cast doubt on this diagnosis. Furthermore, the 22q11 microdeletion should be searched by FISH (Fluorescence In Situ Hybridization) in all patients with hypopara thyroidism of unknown origin, even in the absence of cardiac malformations. Finally, it seems that patients with CATCH 22 would be predisposed to auto-immune disease as a result of thymic dysfunction.

Abnormalities, Multiple↗
PubMed2007

Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.

OBJECTIVE: To identify characteristics associated with microdeletions of chromosome 22q11.2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS). DESIGN/SETTING: Retrospective review of all patients entered at one tertiary-level multidisciplinary cleft lip and palate and craniofacial anomalies panel from January 2000 to December 2003. PATIENTS: The study consisted of 115 patients. The presence or absence of the following clinical features was documented: cleft palate (submucous and overt), VPI, cardiac anomalies, renal anomalies, small stature, characteristic facies, developmental delay, psychiatric dysfunction, and family history. MAIN OUTCOME MEASURE: Correlation between presence or absence of clinical features of VCFS and presence or absence of 22q11.2 microdeletion by FISH analysis. RESULTS: Of the 16 patients (13.9%) who demonstrated 22q11.2 microdeletion by FISH analysis, 16 had VPI (100%), 16 had small stature (100%), 14 had cleft palate (88%), and 13 had characteristic facies (81%). Developmental delay was also present in 13 of these patients (81%), and seven had cardiac anomalies (44%). Multiple regression analysis revealed that the presence of characteristic facies and small stature statistically correlated with microdeletions of chromosome 22q11.2 by FISH studies (p < .05). CONCLUSIONS: Patients with microdeletions of chromosome 22q11.2 as demonstrated by FISH analysis were more likely to have VPI, small stature, cleft palate, characteristic facies, and developmental delay, in descending order. Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.

Adolescent↗
PubMed1980

The underdeveloped palate in ear, nose and throat practice.

The purpose of this study is to assess the incidence of palatal underdevelopment in children undergoing tonsillectomy and adenoidectomy. Signs of underdevelopment were found in 24 out of 1,500 consecutive children admitted for tonsil and adenoid surgery (1.6%). Bifid uvula was found in 15 children (1%). Five palates showed deficiency in length or thickness (0.33%) and submucous cleft palate was found in 4 children (0.27%). The palatopharyngeal sphincter was often compensated and adequate. Middle ear diseases attributable to Eustachian tube dysfunction, with or without infection, was found in the majority of the children with underdeveloped palate. Tonsil and adenoid surgery was modified according to the palatopharyngeal condition.

Adenoidectomy↗
PubMed1994

Anatomy, physiology and pathophysiology of dysphagia.

This is a review paper examining the pathogenesis of oropharyngeal dysphagia. Pharyngeal anatomy and physiology are discussed along with a detailed description of the neuronal architecture and function of the medullary swallowing center. The oropharyngeal swallow is then examined in biomechanical terms emphasizing that the swallow is comprised of several elements (velopharyngeal closure, upper esophageal sphincter opening, closure of the laryngeal vestibule, tongue loading, tongue pulsion and pharyngeal clearance) each of which can be compromised, causing dysphagia. The key modality for evaluating patients with oropharyngeal dysphagia is the videofluoroscopic swallowing study which is analyzed according to the efficacy with which these functional elements of the swallow are accomplished. Specific therapy can then be addressed toward correcting dysfunctional elements.

Central Nervous System Diseases↗
PubMed2002

Complete denture with a removable palatal lift prosthesis: a case report and clinical evaluation.

The palatal lift prosthesis is used to alleviate rhinopharyngeal closure dysfunction. It is generally problematical to use in edentulous patients, because the palatal lift prosthesis requires secure retention of the denture base and is difficult for the patient to retain while eating. This article describes the fabrication of a complete denture with a removable palatal lift prosthesis and a clinical evaluation of the denture's stability. A sprue pin and tube were used as a connecting attachment between the removable palatal lift prosthesis and the denture base. The force required for lifting the soft palate and the denture's stability were measured in the clinical evaluation. The prosthesis required an average retentive force of 0.26 N for each 1 mm of soft palate lift. The force required to dislodge the denture was measured with and without the palatal lift prosthesis in place. The force required to dislodge the conventional complete dentures of five healthy individuals was also measured as a reference. The denture was 24.4% less stable when the palatal lift prosthesis was in place and was generally easier to dislodge than were conventional dentures. This denture with a removable palatal lift prosthesis is useful for patients with dysfunction of the soft palate involving hypernasal speech who have difficulty in retaining the prosthesis while eating.

Adult↗
PubMed1996

Is pharyngoplasty a risk in velocardiofacial syndrome? An assessment of medially displaced carotid arteries.

The association of medially positioned internal carotid arteries and velocardiofacial (Shprintzen) syndrome was first made in 1987. This is also the most common syndrome associated with facial clefting. The potentially dangerous implications in children with this syndrome requiring pharyngoplasty for velopharyngeal incompetence and stigmatized hypernasal speech involve potential damage to these vessels. This three-part study was undertaken to analyze this anatomic variant. First, a group of 25 children with velocardiofacial syndrome, velopharyngeal incompetence, and obvious posterior pharyngeal pulsations seen on nasendoscopy was studied by CT angiography to determine the degree of this abnormal vascular pattern. This technique, together with three-dimensional reconstructions, made it possible to determine the precise location of these abnormally positioned vessels. Second, our routine superiorly based pharyngeal flap was measured by lateral cervical x-ray to show the distal tip of the flap. The variance was minimal and demonstrated the tip of most flaps to be at the disk between the C2 and C3 vertebrae. By correlating this information with the CT angiography, the risk of surgery can be determined on strict anatomic grounds, allowing customized flap design in some unilateral cases. In this series of children, routine superiorly based pharyngoplasty would be safe in 52 percent, while in 28 percent a pharyngeal flap would be safe if custom designed, and in the remaining 20 percent surgery should not be attempted because the risk of damage to the carotid arteries is too great. Third, in a double-blind study, velocardiofacial children with obvious pulsations seen on nasendoscopy were grouped with other children with palatal dysfunction. When only endoral examination was performed by plastic surgeons and plastic surgical residents, no vascular pulsations were ever seen. This indicates another important role of nasendoscopy in the preoperative assessment of children for palatopharyngoplasty.

Carotid Arteries↗
PubMed1979

Palatal lift prostheses for treatment of palatopharyngeal incompetence.

It appears that the palatal lift prosthesis is an effective prosthesis to improve palatopharyngeal incompetence in selected patients. Despite the inconvenience and problems associated with a prosthesis, this procedure is indicated for selected patients who have anatomically normal palates that are dysfunctional. The ultimate benefit of the palatal lift prostheses to the speech of the patients is not the subject of this report. However, it should be noted that many patients can benefit from speech therapy after a satisfactory prosthetic result has been achieved.

Acrylic Resins↗
PubMed2004

Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).

This study investigated the morphology of the frontal lobe and the caudate nucleus in velocardiofacial syndrome, a neurogenetic disorder caused by a microdeletion at chromosome 22q11.2 and frequently associated with severe psychiatric disturbances. Volumes of the caudate nucleus and subregions of the frontal lobe were compared on magnetic resonance images of 10 children with velocardiofacial syndrome and 10 age- and gender-matched controls. Frontal deep white matter was reduced significantly (by about 23%) in subjects with velocardiofacial syndrome relative to controls. Frontal and prefrontal volumes were also reduced in subjects with velocardiofacial syndrome, although not disproportionately to whole brain volume. The volume of the right caudate nucleus was increased in children with velocardiofacial syndrome. Associations between right caudate and right frontal regions were noted in controls but not in children with velocardiofacial syndrome. These findings suggest frontostriatal dysfunction in children with velocardiofacial syndrome. Insofar as up to 30% of adults with velocardiofacial syndrome (also known as chromosome 22q11 deletion syndrome) develop schizophrenia and frontostriatal dysfunction has been noted in schizophrenia, the findings support the hypothesis that velocardiofacial syndrome might represent a neurodevelopmental model of schizophrenia.

Adolescent↗
PubMedDate not supplied

Cricopharyngeal dysfunction in childhood: treatment by dilatations.

A 3-year-old child with cricopharyngeal dysfunction is reported. Swallowing difficulties, nasal regurgitation, and gagging developed at 2 months of age. Repeated aspirations and over 40 episodes of pneumonia necessitating multiple hospitalizations occurred up to 2 years of age, along with pharyngeal pooling of saliva and inability to swallow solid food. Barium was held up at the cricopharyngeal level, and a prominent esophageal impression was seen at the same level. Symptoms were completely alleviated after two esophageal dilatations by mercury dilators, and the relief persisted for the 6 months of follow-up. The diagnosis of cricopharyngeal dysfunction is discussed, and the necessity for manometric studies, in the face of often misleading radiologic appearance, is emphasized. It is suggested that early use of esophageal dilatations might prevent prolonged morbidity and afford long-term symptomatic relief.

Child, Preschool↗