-
Muscle & Nerve Apr 2021Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and...
INTRODUCTION
Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW.
METHODS
Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDx evaluations, including blink reflex and facial and peripheral nerve conduction studies, with optional needle electromyography.
RESULTS
MBS and hereditary congenital facial paresis (HCFP) subjects had low-amplitude cranial nerve 7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter syndrome, myotonic dystrophy, other undefined myopathies, or CFW with arthrogryposis, ophthalmoplegia, and other system involvement.
DISCUSSION
EDx in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling.
Topics: Adult; Diagnosis, Differential; Facial Paralysis; Female; Heterozygote; Humans; Male; Mobius Syndrome; Muscular Diseases; Mutation; Pierre Robin Syndrome
PubMed: 33389762
DOI: 10.1002/mus.27159 -
American Journal of Physiology. Cell... Sep 2021
Topics: Animals; Cell Differentiation; Cell Fusion; Disease Models, Animal; Humans; Membrane Fusion; Membrane Proteins; Mice; Mice, Knockout; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Mutation, Missense; Myoblasts, Skeletal; Pierre Robin Syndrome; Protein Isoforms; Zebrafish
PubMed: 34288723
DOI: 10.1152/ajpcell.00187.2021 -
The Egyptian Journal of Neurology,... 2022Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is...
BACKGROUND
Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is often idiopathic and sometimes it could be due to infectious, traumatic, neoplastic, and immune causes. This study aimed to report the clinical manifestation, evaluation, and prognosis in children with peripheral facial nerve palsy.
METHODS
57 children under 18 years of age diagnosed with peripheral facial nerve palsy at Çukurova University, Balcalı Hospital, between January 2018 and September 2021, were included in the study.
RESULTS
The mean age of the children at the time of diagnosis was 9.6 ± 7, 4 years. Thirty-two (56.1%) of the patients were female and 25 (43.9%) were male. A total of 57 patients were diagnosed with peripheral facial nerve palsy and categorized into many groups by etiology: idiopathic Bell's palsy in 27 (47.5%), infectious in 11 (19.2%), traumatic in 6 (10.5%), and others (due to congenital, immune, neoplastic, Melkersson-Rosenthal syndrome, drug toxicity, and iatrogenic causes) in 13 (22.8%). Forty-six of the children achieved full recovery under oral steroids within 1-7 months. Four patients with acute leukemia, myelodysplastic syndrome, Mobius syndrome and trauma did not recover and two patients (schwannoma, trauma) showed partial improvement. Five patients could not come to follow-up control.
CONCLUSION
Peripheral facial nerve palsy is a rare condition in children with different causes. It could be idiopathic, congenital, or due to infectious, traumatic, neoplastic, and immune reasons. So, when a child presents with facial palsy, a complete clinical history and a detailed clinical examination are recommended. Giving attention to the red flag is very important. Peripheral facial nerve palsy in children is considered to have a good prognosis.
PubMed: 36532829
DOI: 10.1186/s41983-022-00596-1 -
Journal of Anatomy Oct 2022The alteration in mechanical properties of posterior pelvis ligaments may cause a biased pelvis deformation which, in turn, may contribute to hip and spine instability...
The alteration in mechanical properties of posterior pelvis ligaments may cause a biased pelvis deformation which, in turn, may contribute to hip and spine instability and malfunction. Here, the effect of different mechanical properties of ligaments on lumbopelvic deformation is analyzed via the finite element method. First, the improved finite element model was validated using experimental data from previous studies and then used to calculate the sensitivity of lumbopelvic deformation to changes in ligament mechanical properties, load magnitude, and unilateral ligament resection. The deformation of the lumbopelvic complex relative to a given load was predominant in the medial plane. The effect of unilateral resection on deformation appeared to be counterintuitive, suggesting that ligaments have the ability to redistribute load and that they play an important role in the mechanics of the lumbopelvic complex.
Topics: Biomechanical Phenomena; Finite Element Analysis; Ligaments; Ligaments, Articular; Pelvis; Sacroiliac Joint
PubMed: 35986644
DOI: 10.1111/joa.13739 -
Laryngo- Rhino- Otologie May 2022Numerous studies confirm that the vagus nerve stimulation (VNS) is an efficient, indirect neuromodulatory therapy with electrically induced current for epilepsy that...
Numerous studies confirm that the vagus nerve stimulation (VNS) is an efficient, indirect neuromodulatory therapy with electrically induced current for epilepsy that cannot be treated by epilepsy surgery and is therapy-refractory and for drug therapy-refractory depression. VNS is an established, evidence-based and in the long-term cost-effective therapy in an interdisciplinary overall concept.Long-term data on the safety and tolerance of the method are available despite the heterogeneity of the patient populations. Stimulation-related side effects like hoarseness, paresthesia, cough or dyspnea depend on the stimulation strength and often decrease with continuing therapy duration in the following years. Stimulation-related side effects of VNS can be well influenced by modifying the stimulation parameters. Overall, the invasive vagus nerve stimulation may be considered as a safe and well-tolerated therapy option.For invasive and transcutaneous vagus nerve stimulation, antiepileptic and antidepressant as well as positive cognitive effects could be proven. In contrast to drugs, VNS has no negative effect on cognition. In many cases, an improvement of the quality of life is possible.iVNS therapy has a low probability of complete seizure-freedom in cases of focal and genetically generalized epilepsy. It must be considered as palliative therapy, which means that it does not lead to healing and requires the continuation of specific medication. The functional principle is a general reduction of the neuronal excitability. This effect is achieved by a slow increase of the effectiveness sometimes over several years. Responders are those patients who experience a 50% reduction of the seizure incidence. Some studies even reveal seizure-freedom in 20% of the cases. Currently, it is not possible to differentiate between potential responders and non-responders before therapy/implantation.The current technical developments of the iVNS generators of the new generation like closed-loop system (cardiac-based seizure detection, CBSD) reduce also the risk for SUDEP (sudden unexpected death in epilepsy patients), a very rare, lethal complication of epilepsies, beside the seizure severity.iVNS may deteriorate an existing sleep apnea syndrome and therefore requires possible therapy interruption during nighttime (day-night programming or magnet use) beside the close cooperation with sleep physicians.The evaluation of the numerous iVNS trials of the past two decades showed multiple positive effects on other immunological, cardiological, and gastroenterological diseases so that additional therapy indications may be expected depending on future study results. Currently, the vagus nerve stimulation is in the focus of research in the disciplines of psychology, immunology, cardiology as well as pain and plasticity research with the desired potential of future medical application.Beside invasive vagus nerve stimulation with implantation of an IPG and an electrode, also devices for transdermal and thus non-invasive vagus nerve stimulation have been developed during the last years. According to the data that are currently available, they are less effective with regard to the reduction of the seizure severity and duration in cases of therapy-refractory epilepsy and slightly less effective regarding the improvement of depression symptoms. In this context, studies are missing that confirm high evidence of effectiveness. The same is true for the other indications that have been mentioned like tinnitus, cephalgia, gastrointestinal complaints etc. Another disadvantage of transcutaneous vagus nerve stimulation is that the stimulators have to be applied actively by the patients and are not permanently active, in contrast to implanted iVNS therapy systems. So they are only intermittently active; furthermore, the therapy adherence is uncertain.
Topics: Conservative Treatment; Depression; Drug Resistant Epilepsy; Epilepsy; Humans; Quality of Life; Seizures; Treatment Outcome; Vagus Nerve; Vagus Nerve Stimulation
PubMed: 35605616
DOI: 10.1055/a-1660-5591 -
BMC Anesthesiology Oct 2022Moebius syndrome is a rare congenital disorder characterized by non-progressive palsy of the abducens (VI) and facial (VII) cranial nerves. Its common features include...
BACKGROUND
Moebius syndrome is a rare congenital disorder characterized by non-progressive palsy of the abducens (VI) and facial (VII) cranial nerves. Its common features include dysfunctions associated with other cranial nerves, orofacial abnormalities, skeletal muscle hypotonia, and other systemic disorders of differing severities. There are several concerns in the perioperative management of patients with Moebius syndrome.
CASE PRESENTATION
We present a report on the management of general anesthesia of a 14-year-old male patient with Moebius syndrome who was scheduled for mandibular cystectomy. The patient was diagnosed with Moebius syndrome at the age of 7 years based on his clinical manifestations of nerve palsy since birth and cranial nerve palsy of the trigeminal (V), facial (VII), glossopharyngeal (IX), vagus (X), and sublingual nerves (XII). The patient's oral morphological abnormalities made intubation difficult. He also experienced dysphagia and aspiration pneumonia on a daily basis. Oral secretions were frequently suctioned postoperatively. However, after discharge, the patient developed aspiration pneumonia and was readmitted to the hospital.
CONCLUSIONS
The main problem arising when administering general anesthesia to patients with this syndrome is difficult airway management. The oral abnormalities in these patients, such as small jaw and extreme dental stenosis, make mask ventilation and intubation difficult. Furthermore, this syndrome often involves respiratory impairment and dysphagia due to cerebral nerve palsy, so there is a high risk of postoperative respiratory complications. Since multiple organs are affected in patients with Moebius syndrome, appropriate perioperative management strategies must be prepared for these patients.
Topics: Adolescent; Child; Deglutition Disorders; Humans; Intubation, Intratracheal; Male; Mobius Syndrome; Paralysis; Pneumonia, Aspiration
PubMed: 36221060
DOI: 10.1186/s12871-022-01859-3 -
Cortex; a Journal Devoted To the Study... Dec 2023Humans rely heavily on facial expressions for social communication to convey their thoughts and emotions and to understand them in others. One prominent but...
Humans rely heavily on facial expressions for social communication to convey their thoughts and emotions and to understand them in others. One prominent but controversial view is that humans learn to recognize the significance of facial expressions by mimicking the expressions of others. This view predicts that an inability to make facial expressions (e.g., facial paralysis) would result in reduced perceptual sensitivity to others' facial expressions. To test this hypothesis, we developed a diverse battery of sensitive emotion recognition tasks to characterize expression perception in individuals with Moebius Syndrome (MBS), a congenital neurological disorder that causes facial palsy. Using computer-based detection tasks we systematically assessed expression perception thresholds for static and dynamic face and body expressions. We found that while MBS individuals were able to perform challenging perceptual control tasks and body expression tasks, they were less efficient at extracting emotion from facial expressions, compared to matched controls. Exploratory analyses of fMRI data from a small group of MBS participants suggested potentially reduced engagement of the amygdala in MBS participants during expression processing relative to matched controls. Collectively, these results suggest a role for facial mimicry and consequent facial feedback and motor experience in the perception of others' facial expressions.
Topics: Humans; Facial Expression; Emotions; Mobius Syndrome; Facial Paralysis; Perception; Facial Recognition; Social Perception
PubMed: 37852041
DOI: 10.1016/j.cortex.2023.08.014 -
Philosophical Transactions of the Royal... Nov 2022Influential theoretical models argue that an internal simulation mechanism (motor or sensorimotor simulation) supports the recognition of facial expressions. However,...
Influential theoretical models argue that an internal simulation mechanism (motor or sensorimotor simulation) supports the recognition of facial expressions. However, despite numerous converging sources of evidence, recent studies testing patients with congenital facial palsy (i.e. Moebius syndrome) seem to refute these theoretical models. However, these results do not consider the principles of neuroplasticity and degeneracy that could support the involvement of an alternative neural processing pathway in these patients. In the present study, we tested healthy participants and participants with Moebius syndrome in a highly sensitive facial expression discrimination task and concomitant high-density electroencephalographic recording. The results, both at the scalp and source levels, indicate the activation of two different pathways of facial expression processing in healthy participants and participants with Moebius syndrome, compatible, respectively, with a dorsal pathway that includes premotor areas and a ventral pathway. Therefore, these results support the reactivation of sensorimotor representations of facial expressions (i.e. simulation) in healthy subjects, in the place of an alternative processing pathway in subjects with congenital facial palsy. This article is part of the theme issue 'Cracking the laugh code: laughter through the lens of biology, psychology and neuroscience'.
Topics: Emotions; Facial Expression; Facial Paralysis; Humans; Mobius Syndrome; Recognition, Psychology
PubMed: 36126673
DOI: 10.1098/rstb.2021.0190 -
BMC Oral Health Feb 2024Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral...
BACKGROUND
Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management.
METHODS
A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate.
RESULTS
Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%).
CONCLUSIONS
This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.
Topics: Child; Humans; Mobius Syndrome; Facial Paralysis; Dental Caries; Cleft Palate; Dental Care
PubMed: 38321523
DOI: 10.1186/s12903-024-03968-6 -
Cureus Sep 2020Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital...
Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital facial weakness, impairment of abduction of eyes, associated limb anomalies, and aplasia or hypoplasia of the pectoralis muscle. We describe a case of Poland-Mobius syndrome in a neonate associated with unilateral vocal cord immobility.
PubMed: 33042661
DOI: 10.7759/cureus.10215