Possible clinical implications of the structural variations between the tympanic membrane quadrants.

Introduction: Retraction pockets and marginal perforations of the pars tensa of the tympanic membrane (TM) are most commonly found at superior posterior quadrant (SPQ). The patulous Eustachian tube tends to manifest in the same quadrant. Variation in the structure of the TM may explain these observations. Material and Methods: A line defined by the manubrium was used to divide the pars tensa into anterior and posterior portions. A transverse line centered on the umbo divides the pars tensa into superior and inferior parts, resulting in four quadrants. Surface areas of each of the TM quadrants were measured in a sample of 23 human adult formalin-fixed temporal bones. The TMs were completely excised, faced medially, and placed against graph paper to maintain scale measurements, photoed, and measured.TM thickness was measured on a different set of 20 human temporal bones (TB) preparations with normal external and middle ears. Four random loci were chosen from each pars tensa's TM quadrant. The thickness was measured using high-magnification power microscopy. Results: The SPQ was the largest and thinnest of the four quadrants. It occupies 31% of the pars tensa area. It is 69 µm as compared to approximately 85 µm in the other quadrants. The radial lines between the umbo and the annulus are in descending order from superior posterior toward the anterior-superior radials. Conclusion: The SPQ has the largest vibratory area and is the thinnest of the four TM quadrants. Variation in the thickness of the middle, fibrous layer accounts for the variation in the thickness of the TM. These findings may explain the tendency of pathologies related to Eustachian tube dysfunction to preferentially manifest in or originate from the SPQ.

Compensatory Articulation Errors in Patients With Velopharyngeal Dysfunction and Palatal Anomalies.

PURPOSE: The aim of this study was to assess the frequency and types of compensatory articulations (CAs) in nonsyndromic patients with velopharyngeal dysfunction (VPD) and various palatal anomalies and to determine the relationship between the frequency of CAs, type of palatal anomaly, and phonological errors. METHOD: A total of 783 nonsyndromic, Hebrew-speaking patients with VPD and various palatal anomalies (cleft lip and palate [CLP], cleft palate [CP], submucous CP [SMCP], occult submucous CP [OSMCP], or non-CP) were studied retrospectively. Perceptual VPD tests, including articulation and phonological assessment, were conducted. CAs were described as below the level of the defect in the vocal tract (abnormal backing of oral targets to post-uvular place) or in front of it within the oral cavity (palatalization) and at the velopharyngeal port. RESULTS: Among 783 patients, 213 (27.2%) had CAs. Most CAs (18.4%) occurred below the level of the defect, followed by CAs at the velopharyngeal port (12.0%) or in front of it (4.9%). No differences were found in the frequency of CAs between patients with CP (47.8%) or CLP (52.6%) and between those with non-CP (13.6%) or OSMCP (14.7%). SMCP patients had lower frequency of CAs (29.8%) than CP (p = .003) and CLP (p = .002) patients but higher frequency than OSMCP (p = .002) and non-CP (p = .002) patients did. Among the 783 patients, 247 (31.5%) had phonological errors. A higher frequency of phonological errors was found in patients with CAs (55.4%) compared to those without (22.6%) and in all palatal anomaly groups except CLP (31.4% vs. 23.9%). CONCLUSIONS: CAs in nonsyndromic patients with VPD remained relatively high in all age groups, up to adulthood. CAs are influenced by inadequate velar length following palatal repair, as well as by oral structural abnormalities, whereas poor muscle function due to OSMCP and/or abnormal size and/or shape of nasopharynx has less influence. Errors produced in front of the velopharyngeal port are influenced by the structural anomaly of CLP. This information may contribute to general phonetic and phonological theories and genetic investigations about CP anomalies.

Analysis of Sex-related Differences in Patients with Dysphagia: Using a Videofluoroscopy.

BACKGROUND: Dysphagia is a common symptom with diverse etiologies and refers to disorders of the process of swallowing food or fluids. Many studies have reported the anatomical and functional differences between men and women in swallowing in healthy patients; however, sex discrepancies in symptomatic patients have not often been studied. OBJECTIVES: To compare the performance of men and women with dysphagia using videofluoroscopy. METHODS: To compare the performance of men and women with dysphagia using videofluoroscopy. RESULTS: A total of 203 patients met the inclusion criteria, 106 men (52%) and 97 women (48%). Men complained significantly more about choking on liquids (P = 0.002) and in swallowing pills (P = 0.004) compared to women. Men had more abnormalities in the pharyngeal phase (P = 0.015) and at the upper esophageal sphincter (P = 0.056). The prevalence of aspiration, penetration, and barium residue in the hypopharynx and in the vallecula were significantly greater in men as well. CONCLUSIONS: In patients with dysphagia, women had fewer subjective symptoms and performed better than men in videofluoroscopy especially in the pharyngeal phase. These differences are probably due to different anatomical and functional swallowing characteristics. A better understanding of these discrepancies can be useful in offering tailored treatment in clinical practice.

Differences in craniofacial morphology between platybasic and nonplatybasic patients with velopharyngeal dysfunction and control subjects.

INTRODUCTION: This study aimed to identify the characteristics of cranial-base morphology in platybasic and nonplatybasic patients with palatal anomalies and velopharyngeal dysfunction (VPD) compared with control subjects to investigate structural factors related to craniofacial morphology that affect the nasopharyngeal space and may influence velopharyngeal function, and to develop precise treatments for specific patients with VPD. METHODS: Three hundred eighty-six patients with VPD and various palatal anomalies were studied retrospectively. The control group included 126 healthy patients with normal speech. Lateral cephalometric images assessed craniofacial morphology. RESULTS: Nonplatybasic patients and control subjects had larger SNA, S-Ba-Ptm, and N-Ba-PP angles (in the craniomaxillary complex), and platybasic patients had larger nasopharyngeal ANS-Ptm-Ve and Ba-S-Ptm angles and longer Ve-T and Ve-Ba distances than the nonplatybasic patients. All study patients had larger ANB, Gn-Go-Ar, and PP-MP angles (in the craniomandibular complex). Nonplatybasic patients had smaller Ba-SN angles than platybasic patients and controls because of more acute N-S-Ptm angle. Among the nonplatybasic patients, Ve-T length tended to be shorter (with no significant difference between groups) and located more inferiorly (because of the smallest ANS-Ptm-Ve angle) in relation to the maxilla. Thus, the nasopharynx was narrower horizontally but longer vertically than in patients with platybasia. CONCLUSIONS: Cranial-base flexure influences the shape of the skull base and facial-skeletal structure and may alter the pharyngeal space between them. This finding should help improve preoperative planning regarding the effect of the pharyngeal flap height relative to the nasopharynx and oropharynx ratio that affects surgical outcomes, such as resonance and residual VPD. In patients with Class III malocclusion and maxillary constriction, careful planning of presurgical orthodontic treatment is needed in maxillary advancement procedures. Orthodontic and surgical collaboration can help prevent postoperative VPD, especially in platybasic patients.

Phonological Profile of Patients With Velopharyngeal Dysfunction and Palatal Anomalies.

PURPOSE: This purpose of this study was to assess the frequency and types of phonological process errors in patients with velopharyngeal dysfunction (VPD) and the different types of palatal anomalies. METHOD: A total of 808 nonsyndromic patients with VPD, who underwent follow-up at the Center for Cleft Palate and Craniofacial Anomalies, from 2000 to 2016 were included. Patients were stratified into four age groups and five subphenotypes of palatal anomalies: cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP. Phonological processes were compared among groups. RESULTS: The 808 patients ranged in age from 3 to 29 years, and 439 (54.3%) were male. Overall, 262/808 patients (32.4%) had phonological process errors; 80 (59.7%) ages 3-4 years, 98 (40, 0%) ages 4.1-6 years, 48 (24.7%) 6.1-9 years, and 36 (15.3%) 9.1-29 years. Devoicing was the most prevalent phonological process error, found in 97 patients (12%), followed by cluster reduction in 82 (10.1%), fronting in 66 (8.2%), stopping in 45 (5.6%), final consonant deletion in 43 (5.3%), backing in 30 (3.7%), and syllable deletion and onset deletion in 13 (1.6%) patients. No differences were found in devoicing errors between palatal anomalies, even with increasing age. Phonological processes were found in 61/138 (44.20%) with CP, 46/118 (38.1%) with SMCP, 61/188 (32.4%) with non-CP, 70/268 (26.1%) with OSMCP, and 25/96 (26.2%) with CLP. Phonological process errors were most frequent with CP and least with OSMCP (p = .001). CONCLUSIONS: Phonological process errors in nonsyndromic VPD patients remained relatively high in all age groups up to adulthood, regardless of the type of palatal anomaly. Our findings regarding the phonological skills of patients with palatal anomalies can help clarify the etiology of speech and sound disorders in VPD patients, and contribute to general phonetic and phonological studies.

Is there a correlation between skull base flexure and palatal anomalies in patients with 22q11 deletion syndrome and velopharyngeal dysfunction?

The study aimed at assessing the relationship between skull base morphology, represented by skull base and nasopharyngeal angles, and palatal anatomy among patients with 22q11DS and velopharyngeal dysfunction. Retrospective analysis of patients with 22q11DS and velopharyngeal dysfunction. Age, sex, severity of velopharyngeal dysfunction, type of cleft (overt cleft palate, submucous cleft palate, occult submucous cleft palate, or no-CP, and cephalometric skull base angles were reviewed. Correlations between type of palatal anomaly and the angles were assessed. Among 132 patients, 71 were male (53.8%) and 61 were female (46.2%), ages 3.3-40.0 years (mean 8.3 ± 6.10). No difference in the mean cranial-base angle (P = 0.353) or in the distribution of the three types of cranial base angle sizes was found among the palatal anomaly groups (P = 0.137). More men had normal cranial base angles and more women had acute angulation (P = 0.008). A positive correlation was found between the skull base and nasopharyngeal angles (P = 0.001, r = -0.590). No direct correlation was found between cranial base morphology and palatal anomalies in patients with 22q11DS, and velopharyngeal dysfunction. This is probably because skull base and palate morphology contribute independently to velopharyngeal dysfunction.

Craniofacial structure variations in patients with palatal anomalies and velopharyngeal dysfunction.

PURPOSE: Cephalometric evaluation of craniofacial and craniopharyngeal morphology is important for understanding the factors affecting velopharyngeal dysfunction (VPD) in patients with palatal anomalies. MATERIALS AND METHODS: In this study, 366 patients with VPD were retrospectively stratified into cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP groups. Lateral cephalometrics were used to assess craniofacial, craniopharyngeal, and velopharyngeal anatomy. RESULTS: The average craniofacial morphology in patients with VPD differed significantly according to the type of palatal anomaly. The non-CP and OSMCP groups differed from the CLP, CP, and SMCP groups in nasopharyngeal size and shape as depicted by a larger ANS-Ptm-Ve angle, a smaller S-N-Ba and NBa-PP angles, and a shorter linear value of S-Ar in the non-CP group. The CLP and CP groups had shorter ANS-Ptm, shorter Ptm-P, and smaller SNA and SNB angles. CONCLUSION: VPD patients with overt clefts have different skeletal and nasopharyngeal shapes compared to non-CP and OSMCP. Velopharyngeal function assessment should include the size and shape of the nasopharyngeal space in addition to the size and the activity of the velum and posterior and lateral walls of the nasopharynx. This should enable a more precise understanding of VPD pathology, and lead to improvements in the posterior pharyngeal flap technique in order to obtain better postoperative speech outcomes after surgical management of velopharyngeal dysfunction.

Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome.

In this study, we report the developmental, physical and psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS) in a large Israeli cohort, and search for a possible association between preterm birth and the risk for psychotic disorders. The study population consisted of 128 individuals with 22q11.2DS (77 male, 51 female), aged 1-55 years (mean ± SD 12.9 ± 11.0). All subjects underwent a comprehensive medical evaluation. All subjects older than 5 years (n = 104) were also evaluated psychiatrically. Overall, we found rates of physical manifestations similar to those previously reported in the literature. Psychiatric disorders were very common among our study population, with psychotic disorders occurring in 16.3 % of the psychiatrically evaluated population. We found an association between the presence of psychotic disorders and preterm birth. Our results replicate and extend the findings of a previous work and suggest that the evolution of psychosis in 22q11.2DS is a neurodevelopmental process with early obstetric and medical precursors.

Velopharyngeal anatomy in patients with obstructive sleep apnea versus normal subjects.

PURPOSE: Obesity can cause disturbed breathing and is one of the most significant risk factors for obstructive sleep apnea (OSA). However, the anatomic basis of OSA and, specifically, the anatomic mechanisms leading from obesity to OSA are still unclear. We examined the anatomic features of the velopharynx in patients with OSA versus those without in correlation with the body mass index (BMI), age, history of snoring, and OSA severity and re-evaluated the contribution of adding a frontal view to the cephalometric analysis of patients with OSA. MATERIALS AND METHODS: Lateral and frontal cephalometric measurements were taken to assess the velopharyngeal anatomic features of 306 men with various degrees of OSA and 64 men without OSA and without a history of snoring. The demographic, polysomnographic, and cephalometric features were compared. RESULTS: The patients with OSA had an increased pharyngeal length, thicker velum, a thicker posterior pharyngeal wall, a reduced pharyngeal width, and a consequent narrowing of the pharyngeal lumen. As the BMI increased, the OSA severity increased. Also, in parallel, the velum and posterior pharyngeal wall thickness increased and the pharyngeal width decreased. Three types of velopharyngeal narrowing, with an increased occurrence in severe degrees of OSA, were identified: bottle shape, hourglass shape, and tube shape. These aerodynamically unfavorable changes might cause increased upper airway resistance, explaining the development of both OSA and hypoventilation syndrome in obese patients. CONCLUSIONS: Velopharyngeal thickening and lumen narrowing were shown to be features of obese men with OSA. However, these features developed only above a threshold BMI value. The combination of frontal and lateral cephalometry is important for comprehensive evaluation of patients with OSA.

The prevalence of platybasia in patients with velopharyngeal incompetence.

Objectives : To estimate the prevalence of platybasia in patients with velopharyngeal incompetence (VPI) and its relation with palatal anomalies and syndromes. Design and Settings : Retrospective case analysis. Setting : A university-affiliated hospital. Patients : The VPI patients (n = 366) included five groups with either cleft lip and palate (CLP), cleft palate (CP) only, submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), or non-CP. The control group (n = 126) comprised healthy, normal-speech individuals. Outcome Measures : The cranial-base angle was measured by lateral cephalometric radiography. The prevalence of platybasia (defined as cranial base angle ≥ 137°) was estimated and the patient's syndromes were recorded. Results : The prevalence of platybasia was significantly higher in the VPI group (28.7%) than in the normal controls (2.4%) (P < .001). A significant difference (P < .01) was found in the prevalence of platybasia among the five VPI groups: 16.7%, 20.3%, 28.8%, 33.7%, and 40.3% for CLP, CP only, SMCP, OSMCP, and non-CP, respectively. No significant difference was found between the cranial-base angle of VPI patients and of controls and between the cranial-base angle of the five VPI groups. The VPI nonplatybasic patients had a significantly smaller cranial-base angle than normal controls (P < .01). Platybasia was the highest among patients with velocardiofacial syndrome (50%), followed by those with Pierre Robin syndrome (27.3%). Conclusions : Platybasia, which may cause enlargement of the nasopharyngeal space and difficulties in achieving velopharyngeal closure, can be found in high numbers of VPI patients with or without CP. This supports the belief that velopharyngeal anomaly may be part of a more complex craniofacial anomaly influenced by the cranial-base flexure.

Automatic cephalometric evaluation of patients suffering from sleep-disordered breathing.

We address the problem of automatically analyzing lateral cephalometric images as a diagnostic tool for patients suffering from Sleep Disordered Breathing (SDB). First, multiple landmarks and anatomical structures that were previously associated with SDB are localized. Then statistical regression is applied in order to estimate the Respiratory Disturbance Index (RDI), which is the standard measure for the severity of obstructive sleep apnea. The landmark localization employs a new registration method that is based on Local Affine Frames (LAF). Multiple LAFs are sampled per image based on random selection of triplets of keypoints, and are used to register the input image to the training images. The landmarks are then projected from the training images to the query image. Following a refinement step, the tongue, velum and pharyngeal wall are localized. We collected a dataset of 70 images and compare the accuracy of the anatomical landmarks with recent publications, showing preferable performance in localizing most of the anatomical points. Furthermore, we are able to show that the location of the anatomical landmarks and structures predicts the severity of the disorder, obtaining an error of less than 7.5 RDI units for 44% of the patients.

Is isolated palatal anomaly an indication to screen for 22q11 region deletion?

OBJECTIVE: Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found in 80% of patients. The frequency of 22q11 deletion in patients presenting with isolated palatal anomalies has not been fully assessed. Our objective was to determine the frequency of the deletion in patients with isolated palatal anomalies. DESIGN: Patients were referred because of velopharyngeal insufficiency because of isolated congenital palatal anomalies. Diagnosis of palatal anomalies was confirmed by videonasopharyngoscopy, multiview videofluoroscopy and cephalometry. Other clinical findings suggestive of VCFS were sought, and subjects with these characteristics were excluded from the study. Peripheral blood samples from all patients were analyzed cytogenetically utilizing fluorescent in situ hybridization for the 22q11 region. RESULTS: Thirty-eight patients aged 3 to 31 years were included in the study. Nine had cleft palate, 7 cleft lip and palate, 10 overt and 11 occult submucous cleft palate, and 1 had a deep nasopharynx. No deletion of 22q11 region was detected in any of the evaluated patients. CONCLUSIONS: A routine screening for the 22q11 deletion in older children and adults presenting with an isolated palatal anomaly may not be required. Because other signs related to VCFS such as facial dysmorphism and behavioral or psychiatric disorders may evolve at an older age, young patients should be followed up and reevaluated for additional relevant symptoms that may lead to deletion evaluation. In light of the fact that the current literature is inconsistent, the relative small size of this study and the significant consequences of missed 22q11.2 deletion, more information is needed before definitive recommendations can be made.

Endoscopic partial adenoidectomy for children with submucous cleft palate.

OBJECTIVE: Children with submucous cleft palate who suffer from chronic nasal obstruction because of hypertrophic adenoids usually are not subjected to adenoidectomy because of the fear of postoperative velopharyngeal insufficiency. These patients present a therapeutic challenge because we are aware more than ever of the importance of normal nasal breathing and nocturnal respiration, especially during childhood. Our hypothesis was that transnasal endoscopic horizontal limited adenoidectomy may relieve nasal obstruction while preserving the function of the velopharyngeal valve. The objective of this study was to evaluate the efficacy of transnasal endoscopic horizontal partial adenoidectomy in patients with submucous cleft palate and adenoidal hypertrophy. SETTING: Patients were either referred to the outpatient clinic of the Palate Surgery Unit (seven patients) or were patients referred to the senior author's (Y.F.) private clinic. All the patients had been operated on by this senior author (Y.F.). PATIENTS: Ten children aged 3.5 to 13 years (six girls and four boys) with submucous cleft palate and hypertrophic adenoids were included in the study. All the patients were hyponasal and suffered nasal obstruction, loud snoring, and episodes of apnea. INTERVENTIONS: Endoscopic partial adenoidectomy was accomplished to open the lower third of the choanae. Nasal breathing was achieved in all the patients, and only mild snoring remained in two patients. The hyponasality disappeared and speech intelligibility normalized. Mild hypernasality developed in two patients but was still perceived as an overall improvement in speech. CONCLUSIONS: Transnasal endoscopic horizontal partial adenoidectomy may be an effective surgical method for relief of nasal obstruction while preserving velopharyngeal valve function in patients with submucous cleft palate who suffer from obstructive adenoids.