Moebius Syndrome Research Articles

On the Role of Sensorimotor Experience in Facial Expression Perception.

Humans recognize the facial expressions of others rapidly and effortlessly. Although much is known about how we perceive expressions, the role of facial experience in shaping this remarkable ability remains unclear. Is our perception of expressions linked to how we ourselves make facial expressions? Are we better at recognizing other's facial expressions if we are experts at making the same expressions ourselves? And if we could not make facial expressions at all, would it impact our ability to recognize others' facial expressions? The current article aims to examine these questions by explicating the link between facial experience and facial expression recognition. It includes a comprehensive appraisal of the related literature and examines three main theories that posit a connection between making and recognizing facial expressions. First, recent studies in individuals with Moebius syndrome support the role of facial ability (i.e., the ability to move one's face to make facial expressions) in facial expression recognition. Second, motor simulation theory suggests that humans recognize others' facial expressions by covertly mimicking the observed expression (without overt motor action) and that this facial mimicry helps us identify and feel the associated emotion. Finally, the facial feedback hypothesis provides a framework for enhanced emotional experience via proprioceptive feedback from facial muscles when mimicking a viewed facial expression. Evidence for and against these theories is presented as well as some considerations and outstanding questions for future research studies investigating the role of facial experience in facial expression perception.

A Rare Cause of Recurring Lung Infection: Moebius Syndrome

Moebius syndrome is a rare congenital disorder characterized by bilateral paralysis of the VIth and VIIth cranial nerves, leading to facial diplegia and bilateral paralysis of ocular abduction, often associated with orofacial anomalies. This work reports a case collected at the pediatric infectious diseases and pneumo-allergology department of the Children's Hospital of Rabat, of a 9-month-old male infant, 6th of a family of six, of non-consanguineous parents, with a delay in psychomotor acquisitions. The examination shows facial dysmorphism with hypertelorism, epicanthus and right facial paralysis. Since birth, he has had swallowing disorders causing repeated respiratory infections, hence his hospitalization in our training. The etiopathogenesis of this disease remains controversial, with a great clinical heterogeneity whose observed signs are mainly due to the involvement of the VIth and VIIth cranial pairs, mainly resulting in various orofacial and ocular anomalies. The treatment remains symptomatic based on a multidisciplinary approach. The aim of this observation is to identify the particularities of this syndrome with a view to early diagnosis and effective management.

Hypersomnia and cataplexy in Moebius syndrome

Hypersomnia and cataplexy in Moebius syndrome

Through their eyes: Navigating life with limited eyelid closure in patients with Moebius syndrome

Moebius syndrome (MoS), a rare congenital condition caused by the underdevelopment of the sixth and seventh cranial nerves, presents with uni- or bilateral facial paralysis and lateral gaze palsy. Those with MoS often have incomplete eyelid closure (lagophthalmos). This study aimed to investigate the experiences of individuals living with incomplete eyelid closure due to MoS. Participants shared their experiences in semi-structured open-ended focus groups during the 2023 MoS Foundation Conference. Data were analyzed thematically using Nvivo. The Terzis and Bruno scoring system was used to grade participant eyelid closure (range: 1 being no eyelid closure with full scleral show to 5 being complete eyelid closure with no scleral show) and blink (from 1 being no blink to 5 being synchronous and complete blink present). Marginal reflex distances 1 and 2 (MRD1 and MRD2) were measured to grade for ptosis and lid retraction, respectively. Fifteen participants participated in two focus groups, comprising adults (n=12) and adolescents (n=3). All participants had lagophthalmos with some scleral show, ptosis, and lid retraction. The median eyelid closure score was 3 (incomplete eye closure with 1/3 scleral showing). Five key themes were identified: social stigma and misunderstanding, daily life impacts, seasonal exacerbations, different attitudes toward surgical intervention between adults and adolescents, and a prevailing sense of self-acceptance regarding their condition. Incomplete eyelid closure poses significant social challenges for individuals with MoS, especially around social encounters. Our findings show the importance of developing tailored communication tools to support those living with this facial difference.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in REV3L and PLXND1 are reported in only a minority of cases, suggesting the involvement of additional causative genes. With the aim to uncover the molecular causative defect and identify a potential genetic basis of this condition, we performed trio-WES on a cohort of 37 MBS and MBS-like patients. No de novo variants emerged in REV3L and PLXND1. We then proceeded with a cohort analysis to identify possible common causative genes among all patients and a trio-based analysis using an in silico panel of candidate genes. However, identified variants emerging from both approaches were considered unlikely to be causative of MBS, mainly due to the lack of clinical overlap. In conclusion, despite this large cohort, WES failed to identify mutations possibly associated with MBS, further supporting the heterogeneity of this syndrome, and suggesting the need for integrated omics approaches to identify the molecular causes underlying MBS development.

Decoding facial paralysis: Investigating potential small molecules for Moebius syndrome therapy

Decoding facial paralysis: Investigating potential small molecules for Moebius syndrome therapy

Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol.

Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development. We developed a multidisciplinary team comprising core clinicians (lead physician, geneticist, speech and language therapist, psychologist and specialist nurse) and an expanded group to encompass the other affected systems. The interactions between our specialties lead to the development of a treatment protocol, which we present. The protocol harnesses the aspects of care of children with a range of other rare diseases at a specialised paediatric centre and synthesises them into a holistic approach for MBS and related conditions. Management is sequenced on an "ABC-style" basis, with airway, feeding, vision and speech taking priority in the early years. We define management priorities as airway stabilisation with swallow assessment, ocular surface protection and maintenance of nutritional support. Management principles for issues such as speech, reflux, drooling and sleep issues are outlined. In later years, psychological support has a prominent role geared towards monitoring and interventions for low mood, self-esteem and bullying.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.

Congenital facial weakness (CFW) encompasses a heterogenous set of rare disorders presenting with decreased facial movement from birth, secondary to impaired function of the facial musculature. The aim of the present study is to provide an analysis of subject-reported oral health-related quality of life (OHRQoL) in congenital facial weakness (CFW) disorders. Forty-four subjects with CFW and age- and sex- matched controls were enrolled in an Institutional Review Board (IRB)-approved study. Demographic data, medical and surgical history, comprehensive oral examination, and the Oral Health Impact Profile (OHIP-14) were obtained. Compared to unaffected controls, subjects with CFW had higher OHIP-14 scores overall (mean ± SD: 13.11 ± 8.11 vs. 4.46 ± 4.98, p < 0.0001) and within five of seven oral health domains, indicating decreased OHRQoL. Although subjects with Moebius syndrome (MBS) were noted to have higher OHIP-14 scores than those with Hereditary Congenital Facial Paresis (HCFP), there was no significant correlation in OHIP-14 score to age, sex, or specific diagnosis. An increase in OHIP-14 scores in subjects was detected in those who had undergone reanimation surgery. In conclusion, subjects with CFW had poorer OHRQoL compared to controls, and subjects with MBS had poorer OHRQoL than subjects with HCFP. This study provides better understanding of oral health care needs and quality of life in a CFW cohort and suggests that guidelines for dental treatment are required.

Commentary on: "A New Technique in Facial Reanimation Surgery for Moebius Syndrome" by Simmons et al.

Commentary on: "A New Technique in Facial Reanimation Surgery for Moebius Syndrome" by Simmons et al.

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.

Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities. We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD. A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning. Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures. Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.

Food intake restriction in patient with autism spectrum disorder and Moebius syndrome, a strong association. A case report

IntroductionA 7-year-old male diagnosed with autism spectrum syndrome and moebius syndrome was admitted to the psychiatric inpatient unit for a 3-week history of food restrictionObjectivesTo show the importance of exploring symptoms of autism in patients diagnosed with moebius syndrome in order to optimize the intervention of the difficulties that may arise.MethodsCase report and literature reviewResultsThis is a patient with a history of Moebius Syndrome, who required trauma surgery for a clubfoot in April 2019. In early childhood he needs early psychomotor care. He has an IQ of 91. A diagnosis of autism was made in 2018 highlighting high difficulty for social interaction and communication, with repetitive patterns of behavior and marked restricted interests. The patient came to the emergency room after 3 weeks of food restriction. His parents explain that about a month ago the patient witnessed one of his classmates having an episode of vomiting. Since then he has been afraid that he might vomit. They explain that he constantly asks about food expirations, needing to ask before each meal if it will sit well in his stomach. He has noticeably decreased the amount of food he eats and is becoming more selective with food. In the last week he has lost 2 kilograms. During the hospitalization we worked with the patient on his fears about intakes, achieving a weight recovery and normalizing his eating habits.ConclusionsThis case points out the association between Moebius syndrome and autism spectrum disorder. In addition, it reflects the importance of early diagnosis, since in this case it was essential to know the patient’s tendency to literalism and rigid thinking in order to receive effective treatment to achieve renutrition. Moebius syndrome is a rare congenital disorder with a prevalence of less than 0.05%, characterized by congenital facial paralysis associated with absence of abduction of the eyes due to alterations of the VI and VII cranial nerves. It presents multiple craniocephalic, musculoskeletal, neurological or ophthalmological manifestations. Different studies have found an association between autism spectrum disorder and Moebius syndrome, with comorbidity between 25-40%, varying according to the studies.Disclosure of InterestNone Declared

Sensitivity to basic emotional expressions and the emotion perception space in the absence of facial mimicry: The case of individuals with congenital facial palsy.

According to sensorimotor simulation models, recognition of another person's emotion is achieved by recreating the motor production of the perceived facial expression in oneself. Therefore, congenital difficulties in the production of facial expressions may affect emotion processing. The present study assessed a sample (N = 11) of Moebius syndrome (MBS) patients and a matched control group (N = 33), using a highly sensitive emotion recognition task. Leveraging the uniqueness of MBS, which is characterized by congenital facial paralysis, the role of facial mimicry and sensorimotor simulation in creating precise embodied concepts of emotion categories was investigated. Particularly, the research focused on how MBS patients (both as a group and individually, compared to controls) perceived the intensity of primary emotions and how well they discriminated between these and secondary (i.e., blended) emotions. The results showed that MBS patients registered significantly lower intensities for sadness, fear, anger, and disgust. Furthermore, these emotions appeared closely clustered-and therefore confused with anger and surprise-in the multidimensional scaling map, which was used to qualitatively analyze the emotion perception space. Further analysis of each MBS participant showed a stronger tendency in most patients to perceive primary emotions as less intense, relative to controls. Thus, the findings provide evidence for a residual deficit in emotion processing in adults with MBS. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

A New Technique in Facial Reanimation Surgery for Moebius Syndrome.

A New Technique in Facial Reanimation Surgery for Moebius Syndrome.

Oral findings and comprehensive dental management of Moebius syndrome: a systematic review

BackgroundMoebius 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.MethodsA 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.ResultsTwenty-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%).ConclusionsThis 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.

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Moebius Syndrome (MBS) is a rare neurodevelopmental disorder characterised by facial paralysis and ocular motility defects. Its origins trace back to the 19th century, with its clinical delineation attributed to German neurologist Paul Möbius. The syndrome presents with a spectrum of variable systemic clinical features, necessitating a multidisciplinary approach to diagnosis and management. The prevalence of MBS has been estimated to range between 1 in 50,000 to 1 in 500,000 individuals, with a universal distribution across ethnicities and genders. The aetiology of MBS is poorly understood but is likely multifactorial, with developmental, genetic, and environmental factors playing roles. Recent research has identified potential genetic contributors, REV3L and PLXND1, but further work is needed to elucidate the genetic landscape of this rare neurodevelopmental disorder. Here we describe the current understanding of the clinical features, aetiology, genetic landscape, and management of MBS, emphasising the importance of early diagnosis and a holistic approach to patient care. We also propose a set of criteria aimed at standardising MBS reporting to enhance information sharing and bolster MBS research initiatives. Collaborative research efforts in the future hold the potential to offer transformative insights and improved outcomes for affected individuals and their families.

Inability to move one's face dampens facial expression perception

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.

Multidisciplinary Behavioral Management of Anomalies in Moebius Syndrome

Introduction: Moebius syndrome presents the following alterations: facial paralysis, ocular abduction, superior ankyloglossia and loss of integrity of the palatal platform among other alterations. &#x0D; Objective: To systematically review the multidisciplinary behavioral management of Moebius Syndrome anomalies from 2019 to 2023 for the purpose of integrating a guiding protocol.&#x0D; Methodology: A systematic review was carried out considering the prism method. The following databases were used: Web of Science, Scopus and Scielo.&#x0D; Results: A total of 25 articles were selected according to the systematization process where it is evident that 40% deal with facial paralysis and the most frequent area is Surgery.&#x0D; Conclusion: Early diagnosis is essential for adequate management of the syndrome. It is necessary to address the facial paralysis, as well as the other alterations. It is recommended to provide emotional support to the patient and caregivers.

Electromyographic evaluation of the facial and motor donor nerves before facial reanimation surgery in Moebius syndrome

Electromyographic evaluation of the facial and motor donor nerves before facial reanimation surgery in Moebius syndrome

Etiology of congenital ptosis - literature review

Karolina Ridikaitė1, Dovilė Bučaitė1, Dalia Jarušaitienė1, 2 1Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania 2Lithuanian University of Health Sciences Kauno klinikos, Department of Ophthalmology, Kaunas, Lithuania Abstract Background. Ptosis is abnormal drooping of the upper eyelid (> 2 mm). It is divided into two categories: congenital ptosis, which is present at birth, and acquired ptosis. The pathogenesis of congenital ptosis is thought to be due to a disorder of muscle development and damage to the innervation of the muscles. In contrast, there is currently no precise description of the pathogenesis of congenital eyelid ptosis. Aim. To present the main clinical manifestations of congenital ptosis, based on the available scientific literature. Material and methods. A literature review was conducted in the “PubMed” database using the terms “congenital ptosis” and “myogenic congenital ptosis” and “neurogenic congenital ptosis” from 2010 to 2023. Inclusion criteria was represented by articles relevant to these searches. Results. 1) Myogenic ptosis occurs when the development of the muscle responsible for elevating the upper eyelid is affected and replaced with other tissues. The condition is commonly seen as isolated congenital ptosis or blepharophimosis-ptosis-inverse epicanthal syndrome. 2) Neurogenic ptosis is characterized by an interruption in the nerve signals that control the muscles responsible for elevating the upper eyelid. The condition commonly presents as congenital fibrosis of the extraocular muscles, Marcus Gunn syndrome, Duane syndrome, Moebius syndrome, hereditary congenital facial paresis, Horner’s syndrome and congenital III cranial nerve palsy. Conclusions. Myogenic and neurogenic ptosis are most commonly described in the literature, with a higher prevalence in childhood. In contrast, the underlying mechanism of etiopathogenesis remains unclear. Keywords: congenital ptosis, myogenic congenital ptosis, neurogenic congenital ptosis Full article https://doi.org/10.53453/ms.2023.5.12