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Tremor and Other Hyperkinetic Movements... Dec 2020Ear click is a rare type of objective tinnitus, classically described with associated palatal tremor/myoclonus (PT).
BACKGROUND
Ear click is a rare type of objective tinnitus, classically described with associated palatal tremor/myoclonus (PT).
CASE REPORT
A 15-year-old boy reported a constant bilateral ear clicking for 4 years, that could be stopped at will for a few seconds. Clinically, the ear clicks were audible without visible eardrum or palatal movement, and could be entrained by the examiner. Brain MRI was normal.
DISCUSSION
We propose to classify this as isolated ear clicks with partial voluntary control, putting it into context with other subcategories of "essential" or "isolated" PT.
Topics: Adolescent; Humans; Male; Palatal Muscles; Tinnitus; Tremor
PubMed: 33362949
DOI: 10.5334/tohm.574 -
European Journal of Paediatric Dentistry Jun 2023This study aimed to characterise the palatal vault evolution during the first years of life, both in terms of shape and size.
AIM
This study aimed to characterise the palatal vault evolution during the first years of life, both in terms of shape and size.
MATERIALS
The study sample was composed of 168 healthy children aged less than 4 years. Twenty-one measurements of distances and 6 angles were taken from 7 fixed landmarks set on the palatal vaults 3D surfaces reconstructed from CT-scans. To analyse only the shape evolution, the "sizefree" log-shape ratio of those measurements were computed and the global shape of the palatal vault and their transversal curve were plotted. Statistical analyses were performed to highlight the shape and size differences separately.
CONCLUSION
The shape and size evolution of the palatal vault during the first years of life was not only correlated with deciduous dentition development. We assumed that the progressive orofacial muscles activation and tongue movements in the oral cavity may also explain these results as they induced strains on the palatal vault, warping it in various ways.
Topics: Humans; Child; Palate; Tomography, X-Ray Computed
PubMed: 37184237
DOI: 10.23804/ejpd.2023.1663 -
Journal of Oral Biology and... 2022The conventional surgical procedures for the closure of cleft-lip and palate are based on proven plastic-surgical procedures from tumour surgery or traumatology. These...
Cleft lip, alveolus and palate: Defect or dislocation malformation? Importance of adopting a physiological concept for surgical repair in achieving optimal outcomes in LMICs. Part 1: Physiological processes in facial development.
The conventional surgical procedures for the closure of cleft-lip and palate are based on proven plastic-surgical procedures from tumour surgery or traumatology. These flap surgeries take little account of the fact that the treatment of such malformations takes place during the time of a child's increased growth and is known to lead to pronounced scarring and skeletal growth disorders. It is therefore imperative to develop modified surgical procedures based on physiological growth processes. These physiological procedures must include the reconstruction of all facial structures such as orofacial, palatal and pharyngeal muscles, complete nose, upper jaw and palate. Transfer of this know how to low resource LMIC and training is essential if optimal outcomes are to be achieved.
PubMed: 34820255
DOI: 10.1016/j.jobcr.2021.11.001 -
Sensors (Basel, Switzerland) Apr 2020Malocclusion during childhood may affect both morphology and masticatory function and could greatly affect the subsequent growth and development of the jaws and face....
Malocclusion during childhood may affect both morphology and masticatory function and could greatly affect the subsequent growth and development of the jaws and face. The purpose of this study was to evaluate the efficiency of surface electromyography in describing the effects of the rapid palatal expansion (RPE) on Masseter (M) and Temporalis Anterior (T) muscles' activity in 53 children with different types of malocclusion: bilateral posterior crossbite (BPcb), underdeveloped maxillary complex without crossbite (NOcb) and unilateral posterior crossbite on the right (UPCBr) and on the left (UPCBl). The muscular activities during chewing tasks were assessed bilaterally before and after RPE application and three months after removal. Both the envelope's peak (µV) and its occurrence (% of chewing task) were extracted from the surface electromyography signal. Our results showed the presence of statistically significant differences (p < 0.05) on temporomandibular joint muscles, across different assessments, in all the tested populations of subjects. Surface electromyography demonstrated a relationship between the correction of a maxillary transverse discrepancy and the restoration of a muscle's activation patterns comparable to healthy subjects for both T and M.
Topics: Child; Electromyography; Female; Humans; Male; Malocclusion; Masseter Muscle; Palatal Expansion Technique; Temporal Muscle
PubMed: 32272810
DOI: 10.3390/s20072086 -
International Journal of Molecular... Feb 2024Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene () have been associated with Verheij syndrome, which has the key features of coloboma, short...
Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene () have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with -related disorders exhibiting novel genetic and clinical findings with three truncating variants, one splice-site variant with likely reduced protein expression, and one missense variant. Protein modeling of the patient's missense variant in the PUF60 AlphaFold structure revealed a loss of polar bonds to the surrounding residues. Neurodevelopmental disorders were present in all patients, with variability in speech, motor, cognitive, social-emotional and behavioral features. Novel phenotypic expansions included movement disorders as well as immunological findings with recurrent respiratory, urinary and ear infections, atopic diseases, and skin abnormalities. We discuss the role of PUF60 in immunity with and without infection based on recent organismic and cellular studies. As our five patients showed less-severe phenotypes than classical Verheij syndrome, particularly with the absence of key features such as coloboma or palatal abnormalities, we propose a reclassification as -related neurodevelopmental disorders with multi-system involvement. These findings will aid in the genetic counseling of patients and families.
Topics: Humans; Coloboma; Mutation, Missense; Neurodevelopmental Disorders; Phenotype; RNA Splicing Factors
PubMed: 38396730
DOI: 10.3390/ijms25042053 -
Acta Otorhinolaryngologica Italica :... Dec 2022To describe a clear and intuitive way to analyse the anatomical meaning of images observed in Drug-induced Sleep Endoscopy (DISE) to fully understand the obstructive...
OBJECTIVE
To describe a clear and intuitive way to analyse the anatomical meaning of images observed in Drug-induced Sleep Endoscopy (DISE) to fully understand the obstructive dynamics and therefore opt for a tailor-made pharyngeal surgical technique.
METHODS
From January 2016 to December 2020, 298 patients who underwent DISE were selected according to inclusion criteria.
RESULTS
The case series consisted of 204 males and 94 females with a mean age of 56 years. Body mass index ranged from 19 kg/m to 34 kg/m with a median of 26.5 kg/m. Median Apnoea-Hypopnea Index (AHI) was 27 (range 5-62.3). The authors also observed four palate pharyngeal phenotypic patterns of collapse and clarify the morphology and role of the main muscles involved in upper airway collapse.
CONCLUSIONS
DISE is fundamental to determine the collapse site in patients affected by obstructive sleep apnoea syndrome. The velopharyngeal region is the most common site of obstruction and lateral pharyngeal wall collapse is the major determining factor. DISE can lead to a deeper understanding of the obstructive dynamic patterns and a more precise identification of the muscle bundles responsible for upper airway collapse.
Topics: Male; Female; Humans; Middle Aged; Airway Obstruction; Sleep Apnea, Obstructive; Pharynx; Endoscopy; Sleep
PubMed: 36654522
DOI: 10.14639/0392-100X-N2143 -
Veterinary Journal (London, England :... Sep 2021Exercise-induced upper airway collapse (UAC) probably occurs when the stabilising muscles of the upper airway are unable to withstand the dramatic changes in airflow and...
Exercise-induced upper airway collapse (UAC) probably occurs when the stabilising muscles of the upper airway are unable to withstand the dramatic changes in airflow and pressure that occurs during exercise. In racehorses, the mainstay of treatment is surgical intervention. In human athletes, exercise-induced laryngeal obstruction has been treated successfully with inspiratory muscle training (IMT). The aims of this study were: (1) to assess the feasibility of IMT in racehorses; and (2) describe the exercising endoscopy findings pre- and post-IMT in racehorses diagnosed with dynamic UAC. Horses undergoing IMT wore a mask with an attached threshold-valve to apply an additional load during inspiration, creating a training stimulus with the purpose of increasing upper airway muscle strength. Each horse underwent IMT once daily, while standing in the stable, 5-6 days/week for 10 weeks. Endoscopy recordings were analysed in a blinded manner using an objective grading scheme and subjective pairwise analysis. Seventeen horses successfully completed the IMT protocol, with full information available for 10 horses. Objective grading analysis showed a lower grade of vocal fold collapse (6/9 horses), palatal instability (7/10 horses) and intermittent dorsal displacement of the soft palate (5/7 horses) post-IMT. Pairwise subjective analysis suggested better overall airway function post-IMT in 3/10 horses. The main limitations of this preliminary investigation were the low number of horses examined and lack of a control population. Further research is required to investigate the effects of IMT on upper airway muscle strength and to evaluate its efficacy for prevention and treatment of UAC.
Topics: Airway Obstruction; Animals; Breathing Exercises; Endoscopy; Female; Horse Diseases; Horses; Male; Physical Conditioning, Animal; Prospective Studies
PubMed: 34147643
DOI: 10.1016/j.tvjl.2021.105708 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
PloS One 2020Parkinson disease (PD) is associated with speech and swallowing difficulties likely due to pathology in widespread brain and nervous system regions. In post-mortem...
Parkinson disease (PD) is associated with speech and swallowing difficulties likely due to pathology in widespread brain and nervous system regions. In post-mortem studies of PD, pathology has been reported in pharyngeal and laryngeal nerves and muscles. However, it is unknown whether PD is associated with neuromuscular changes in the tongue. Prior work in a rat model of PD (Pink1-/-) showed oromotor and swallowing deficits in the premanifest stage which suggested sensorimotor impairments of these functions. The present study tested the hypothesis that Pink1-/- rats show altered tongue function coinciding with neuromuscular differences within tongue muscles compared to wildtype (WT). Male Pink1-/- and WT rats underwent behavioral tongue function assays at 4 and 6 months of age (n = 7-8 rats per group), which are time points early in the disease. At 6 months, genioglossus (GG) and styloglossus (SG) muscles were analyzed for myosin heavy chain isoforms (MyHC), α-synuclein levels, myofiber size, centrally nucleated myofibers, and neuromuscular junction (NMJ) innervation. Pink1-/- showed greater tongue press force variability, and greater tongue press forces and rates as compared to WT. Additionally, Pink1-/- showed relative increases of MyHC 2a in SG, but typical MyHC profiles in GG. Western blots revealed Pink1-/- had more α-synuclein protein than WT in GG, but not in SG. There were no differences between Pink1-/- and WT in myofiber size, centrally-nucleated myofibers, or NMJ innervation. α-synuclein protein was observed in nerves, NMJ, and vessels in both genotypes. Findings at these early disease stages suggest small changes or no changes in several peripheral biological measures, and intact motor innervation of tongue muscles. Future work should evaluate these measures at later disease stages to determine when robust pathological peripheral change contributes to functional change, and what CNS deficits cause behavioral changes. Understanding how PD affects central and peripheral mechanisms will help determine therapy targets for speech and swallowing disorders.
Topics: Animals; Disease Models, Animal; Gene Knockout Techniques; Male; Myosin Heavy Chains; Palatal Muscles; Parkinson Disease; Protein Kinases; Rats; Tongue
PubMed: 33064741
DOI: 10.1371/journal.pone.0240366 -
The Cleft Palate-craniofacial Journal :... Feb 2024To examine levator veli palatini muscle composition in patients with nonsyndromic cleft palate and investigate the impact of Veau class.
OBJECTIVE
To examine levator veli palatini muscle composition in patients with nonsyndromic cleft palate and investigate the impact of Veau class.
DESIGN
Prospective cohort study.
SETTING
Tertiary care academic hospital.
PATIENTS/PARTICIPANTS
Thirteen patients with nonsyndromic cleft palate were recruited.
INTERVENTIONS
During primary palatoplasty, a sample of levator veli palatini muscle was excised and prepared for histological analysis.
MAIN OUTCOME MEASURES
Fat and collagen content were determined utilizing Oil Red and Sirius red stains, respectively, while muscle fiber cross-sectional areas were calculated from H&E-stained samples, with analysis using histomorphometric methods. Immunofluorescent staining of myosin heavy chain isoforms was performed.
RESULTS
Patients underwent repair at 10.8 months of age (interquartile range [IQR] 10.2-12.9). Fat content of the levator veli palatini muscle was low in both groups, ranging from 0% to 5.2%. Collagen content ranged from 8.5% to 39.8%; neither fat nor collagen content showed an association with Veau classes. Mean muscle fiber cross-sectional area decreased with increasing Veau class, from 808 µm (range 692-995 µm) in Veau II to 651 µm (range 232-750 µm) in Veau III ( = .02). There was also a nonsignificant decrease in proportion of type I muscle fibers with increasing Veau class (44.3% [range 31.4%-84.4%] in Veau II vs 35.3% [range 17.4%-61.3%] in Veau III).
CONCLUSIONS
Muscle fiber area in levator veli palatini muscles decreases in Veau III clefts in comparison to Veau II. The impact of these differences in velopharyngeal dysfunction requires further analysis of a larger cohort.
Topics: Humans; Cleft Palate; Prospective Studies; Palate, Soft; Palatal Muscles; Collagen
PubMed: 36330615
DOI: 10.1177/10556656221127840