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Journal of Speech, Language, and... Sep 2022Limited quantitative data exist regarding growth of the velopharynx within the first 2 years of life. The purpose of this study was to (a) quantify changes in...
PURPOSE
Limited quantitative data exist regarding growth of the velopharynx within the first 2 years of life. The purpose of this study was to (a) quantify changes in velopharyngeal structures due to growth during the first 2 years of life, (b) examine the impact of sex and race within this age range, and (c) provide normative measures for comparison to individuals with cleft palate.
METHOD/DESCRIPTION
A retrospective chart review was completed of all patients up to 24 months of age that underwent magnetic resonance imaging of the head for medical necessity within the past 18 months using a three-dimensional fluid-attenuated inversion recovery sequence. Measurements of the velopharynx were obtained from 200 scans consistent with previous literature. Participants were divided into five groups based on corrected age for comparison. Variables of interest included adenoid depth, angle of origin, effective velopharyngeal ratio, effective velar length, levator veli palatini length, origin-origin distance, pharyngeal depth, sagittal angle, velopharyngeal ratio, velar insertion distance, velar length, and velar thickness.
RESULTS
Velopharyngeal dimensions were significantly different among corrected age groups after controlling for sex and race. Regarding age, analyses revealed significant differences in all variables of interest except effective velopharyngeal ratio. Regarding sex, significant differences were observed for angle of origin, effective velopharyngeal ratio, effective velar length, levator veli palatini muscle length, and velar insertion distance. Regarding race, a significant difference was only observed for angle of origin.
CONCLUSIONS
Results of this study demonstrate growth of velopharyngeal anatomy in normative infants with race and sex effects apparent in children up to 24 months of age. Variable growth trends were observed among different velopharyngeal measures.
Topics: Child; Cleft Palate; Humans; Infant; Magnetic Resonance Imaging; Palatal Muscles; Palate, Soft; Pharynx; Retrospective Studies
PubMed: 36001858
DOI: 10.1044/2022_JSLHR-22-00186 -
Journal of Otology Apr 2022Objective tinnitus is defined as a type of tinnitus perceived by both the patient and external observer. This paper presents two cases of objective tinnitus related to... (Review)
Review
Objective tinnitus is defined as a type of tinnitus perceived by both the patient and external observer. This paper presents two cases of objective tinnitus related to palatal tremor, along with a literature review. Palatal tremor is a condition characterized by soft palate involuntary contractions. Two types of palatal tremor have been described: symptomatic palatal tremor and essential palatal tremor, with different clinical manifestations. Diagnostic workup is based on medical history and physical examination, including direct oropharynx exploration and cavum visualization through nasopharyngoscopy. Brain MRI is mandatory in all cases. If a secondary origin is suspected, additional lab tests should be performed based on clinical suspicion. First-line treatment is botulinum toxin injection into the and muscles, with velopharyngeal insufficiency being its main adverse effect. Other medications have not been shown to be effective.
PubMed: 35949555
DOI: 10.1016/j.joto.2021.11.003 -
Journal of Speech, Language, and... Jul 2022The aim of this study was to assess the frequency and types of compensatory articulations (CAs) in nonsyndromic patients with velopharyngeal dysfunction (VPD) and...
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 ( = .003) and CLP ( = .002) patients but higher frequency than OSMCP ( = .002) and non-CP ( = .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.
Topics: Adult; Cleft Lip; Cleft Palate; Humans; Phonetics; Retrospective Studies; Velopharyngeal Insufficiency
PubMed: 35858260
DOI: 10.1044/2022_JSLHR-21-00679 -
Biomimetics (Basel, Switzerland) Jun 2022The presence of posterior crossbite can trigger aesthetic and functional changes as mandibular asymmetry in individuals, contributing to asymmetrical muscle function....
BACKGROUND
The presence of posterior crossbite can trigger aesthetic and functional changes as mandibular asymmetry in individuals, contributing to asymmetrical muscle function. Mandibular asymmetry and respective condyle adaptation may be an etiological factor in temporomandibular disorder. This study aims to evaluate the effects of maxillary expansion on the position and angulation of the condyles as well as the intercondylar distance in children with cleft lip and palate.
METHODS
Twenty-five individuals with cleft lip and palate who underwent maxillary expansion were selected. Condylar changes were evaluated by cone beam computed tomography using the Pullinger and Hollender formula. To determine the statistically significant differences between the variables, the Student t-test and the Benjamini-Hochberg correction method for multiple comparisons were used.
RESULTS
No statistically significant differences between angulation and condylar position before and after maxillary expansion were found. The intercondylar distance tended to increase in growing individuals with cleft lip and palate after maxillary expansion.
CONCLUSIONS
Intercondylar distance shows a tendency to increase after expansion regardless of the cleft phenotype. No differences were found in angulation and condylar position with the changes in occlusion resulting from maxillary expansion.
PubMed: 35735589
DOI: 10.3390/biomimetics7020073 -
American Journal of Medical Genetics.... Sep 2022Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic...
Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic variants related to the familial syndromes have rarely been detected in sporadic ependymomas. De novo variants in POLR2A, the gene encoding the largest subunit of RNA polymerase II, cause a neurodevelopmental disorder with a wide range of clinical manifestations, characterized by severe infantile-onset hypotonia, developmental delay, feeding difficulties, palatal anomalies, and facial dysmorphisms. As somatic events, POLR2A mutations represent a recurrent somatic lesion in benign meningiomas. Here we describe a case of ependymoma in a 2-year-old male with a de novo pathogenic variant in POLR2A predicted to impair proper interaction of the subunit with transcription-elongation factor TFIIS, whose function is required for back-tracking of the enzyme due to elongation blocks or nucleotide misincorporation, and expected to result in an increased error and reduced elongation rates. To date, ependymoma has never been reported in patients harboring pathogenic POLR2A variants. Further information is required to explore the possibility of a differential clinical and functional impact of the pathogenic POLR2A variants and the eventual inclusion of the POLR2A neurodevelopmental disorder among the cancer predisposition syndromes with the possible development of ependymomas.
Topics: Child; Child, Preschool; DNA-Directed RNA Polymerases; Ependymoma; Humans; Male; Muscle Hypotonia; Syndrome; Transcription Factors
PubMed: 35689525
DOI: 10.1002/ajmg.a.62869 -
Journal of Stroke and Cerebrovascular... Aug 2022This study aims to explore the effects of comprehensive swallowing intervention on obstructive sleep apnea (OSA) and dysphagia in stroke patients. (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
This study aims to explore the effects of comprehensive swallowing intervention on obstructive sleep apnea (OSA) and dysphagia in stroke patients.
METHODS
We performed a randomized controlled trial in stroke patients with obstructive sleep apnea (OSA) complicated by dysphagia, divided into treatment group and control group. The treatment group underwent comprehensive swallowing intervention and received swallowing care for 4 weeks, while the control group received only swallowing care. Outcome measurements were obtained at baseline and after the 4-week intervention, evaluated by polysomnography (PSG), videoendoscopic swallowing study (VFSS) synchronized surface electromyography (sEMG), oropharyngeal magnetic resonance imaging (MRI) and swallowing assessment scales.
RESULTS
Sixty patients with stroke (30 treatment and 30 control) were eligible to participate in this study. There were no significant differences in any assessment between two groups at baseline. After a 4-week intervention, compared with to control group, there was a significant decrease in the apnea-hypopnea index (AHI) and oxygen desaturation index (ODI), and increased mean and minimal oxygen saturation (SaO), amplitudes of suprahyoid muscle group (ASUPMG) and subhyoid muscle group (ASUBMG). Moreover, the posterior palatal distance (PPD), posterior lingual distance (PLD) and minimal cross-sectional area (MCSA) were obviously elevated in the treatment group. Additionally, the scores of Gugging swallowing screen (GUSS) and VFSS were significantly increased in the treatment group, compared to control group.
CONCLUSIONS
The comprehensive swallowing intervention had therapeutic effects on OSA and dysphagia after stroke, and the mechanism was related to enhancing oropharyngeal muscle strength and changing upper airway structure.
Topics: Deglutition; Deglutition Disorders; Humans; Polysomnography; Sleep Apnea, Obstructive; Stroke
PubMed: 35636225
DOI: 10.1016/j.jstrokecerebrovasdis.2022.106521 -
The Laryngoscope Oct 2022To present cases of atypical palatal tremor (PT) and showcase the variable phenomenology of this condition.
OBJECTIVE
To present cases of atypical palatal tremor (PT) and showcase the variable phenomenology of this condition.
STUDY DESIGN
Retrospective case series.
RESULTS
PT, or palatal myoclonus, is a movement disorder characterized by brief, involuntary rhythmic muscular contractions of the soft palate. Variants of PT have been described and include synchronous tremors in other branchial arch derivatives including the larynx, pharynx, neck, face, jaw, ocular and also respiratory and trunk muscles. We present 3 cases, including clinical videos, of atypical PT with extra-palatal manifestations, in addition to a brief discussion of the pathophysiology and management of this condition.
CONCLUSION
Variations of PT are of interest to the practicing otolaryngologist as the clinical spectrum of this condition is wide and can present with laryngeal, pharyngeal, respiratory and other head and neck manifestations.
Topics: Humans; Larynx; Myoclonus; Palatal Muscles; Palate, Soft; Pharynx; Retrospective Studies; Tremor
PubMed: 35616181
DOI: 10.1002/lary.30165 -
Dental Press Journal of Orthodontics 2022To introduce newly structured and developed orofacial myofunctional therapy (OFMFT) protocols named Bio-Exercise (BioEx), and evaluate the treatment effect of this...
OBJECTIVE
To introduce newly structured and developed orofacial myofunctional therapy (OFMFT) protocols named Bio-Exercise (BioEx), and evaluate the treatment effect of this method, using lateral cephalometric analysis on malocclusion with low tongue posture in young patients.
METHODS
A retrospective preliminary study was performed using orthodontic records from 28 patients (mean age of 8.41±1.45-year-old, 13 males, 15 females) treated with BioEx therapy using tongue elevators for 18.14±9.04 months (range: 6 to 37 months). Pretreatment (T0) and post-BioEx therapy (T1) lateral cephalograms were subsequently analyzed for tongue posture changes by linear, anteroposterior and vertical measurements. The data were analyzed by paired t-test, considering a 5% significance level.
RESULTS
The tongue length (TGL) and tongue height (TGH) increased statistically significant between T0 and T1. The decrease of the dorsum of the tongue perpendicular to the palatal plane (Td-PP value) was statistically significant. The increase of the tip of the tongue perpendicular to the pterygomaxillary vertical line (TT-PMV) was not statistically significant.
CONCLUSIONS
These preliminary cephalometric results indicate that BioEx can be an effective OFMFT modality in increasing the tonicity of the tongue muscles to establish more normalized tongue position at rest.
Topics: Cephalometry; Child; Female; Humans; Male; Malocclusion; Myofunctional Therapy; Retrospective Studies; Tongue
PubMed: 35613244
DOI: 10.1590/2177-6709.27.2.e2220367.oar -
Development (Cambridge, England) May 2022Tissue fusion frequently requires the removal of an epithelium that intervenes distinct primordia to form one continuous structure. In the mammalian secondary palate, a...
Tissue fusion frequently requires the removal of an epithelium that intervenes distinct primordia to form one continuous structure. In the mammalian secondary palate, a midline epithelial seam (MES) forms between two palatal shelves and must be removed to allow mesenchymal confluence. Abundant apoptosis and cell extrusion support their importance in MES removal. However, genetically disrupting the intrinsic apoptotic regulators BAX and BAK within the MES results in complete loss of cell death and cell extrusion, but successful removal of the MES. Novel static- and live-imaging approaches reveal that the MES is removed through streaming migration of epithelial trails and islands to reach the oral and nasal epithelial surfaces. Epithelial trail cells that express the basal epithelial marker ΔNp63 begin to express periderm markers, suggesting that migration is concomitant with differentiation. Live imaging reveals anisotropic actomyosin contractility within epithelial trails, and genetic ablation of actomyosin contractility results in dispersion of epithelial collectives and failure of normal MES migration. These findings demonstrate redundancy between cellular mechanisms of morphogenesis, and reveal a crucial and unique form of collective epithelial migration during tissue fusion.
Topics: Actomyosin; Animals; Apoptosis; Cleft Palate; Epithelial Cells; Epithelium; Mammals; Palate
PubMed: 35593401
DOI: 10.1242/dev.200181