Congenital Facial Palsy Research Articles

Frequency and Clinical Outcomes of Facial Nerve Palsy at District Level Teaching Hospital, Pakistan

Background: Facial nerve palsy, characterized by the dysfunction of the seventh cranial nerve, is a common neurological disorder that significantly impacts patients' quality of life. It manifests as unilateral facial weakness or paralysis, with Bell's palsy being the most prevalent cause. This condition requires thorough clinical evaluation and appropriate management to ensure optimal recovery outcomes. Objective: The objective of this study was to determine the frequency and clinical outcomes of facial nerve palsy in patients presenting to a district-level teaching hospital in Lakki Marwat, Pakistan. Methods: A cross-sectional study was conducted from May 2023 to October 2023 at the Physiotherapy Department of District Headquarter Hospital, Lakki Marwat. Patients with a confirmed diagnosis of facial nerve palsy by a neurophysician were included, while those with congenital facial nerve palsy or upper motor neuron lesions were excluded. Ethical approval was obtained, and written informed consent was collected from all participants. Clinical assessments were performed using the House-Brackmann scale to evaluate the severity of facial nerve dysfunction. Data were collected through a semi-structured questionnaire and analyzed using SPSS version 25. Descriptive statistics, including frequencies, percentages, means, and standard deviations, were used to present the data. Results: Out of 102 patients, 59 (57.9%) were male, and 43 (42.1%) were female, with a mean age of 38.2 ± 10.36 years. The majority of patients (41.1%) were in the 31-40 years age group. Right-side facial palsy was more prevalent, affecting 64 (62.7%) patients. The House-Brackmann grading revealed that 49 (48.2%) patients were in Grade IV, 24 (23.5%) in Grade V, 15 (14.7%) in Grade III, 8 (7.8%) in Grade VI, and 6 (5.8%) in Grade II. Bell’s palsy was the most common cause, accounting for 52 (51%) cases, followed by external trauma in 22 (21.6%) patients, infections in 18 (17.6%) patients, and tumors in 10 (9.8%) patients. Treatment outcomes showed complete recovery in 65 (63.7%) patients, incomplete recovery in 28 (27.5%), and no recovery in 9 (8.8%). Conclusion: Facial nerve palsy was more common in male patients, with the right side of the face being predominantly affected. Bell’s palsy was identified as the leading cause. The study highlights the importance of early diagnosis and intervention, particularly physiotherapy, in managing facial nerve palsy. Further research is recommended to explore long-term outcomes and optimize treatment strategies.

Peripheral congenital facial palsy: a rare case report

Peripheral congenital facial palsy: a rare case report

The role of physical medicine and rehabilitation in the management of a pediatric female with Möbius syndrome: a case report

This case report presents a comprehensive analysis of a 4-year-old female patient with Möbius syndrome and associated conditions while emphasizing the role of pediatric physical medicine and rehabilitation (PM&R) in managing her complex medical profile. The patient’s clinical presentation encompassed congenital facial palsy, ocular abduction impairments, developmental delay, syndactyly, clubfoot, and G-tube dependence. The diagnosis was based on characteristic clinical criteria of Möbius syndrome. A multifaceted PM&R approach was employed, involving tailored physical therapy interventions targeting head control, sensory integration, trunk rotation, and positioning techniques. Concurrently, occupational therapy strategies enhanced her functional abilities and empowered caregivers with home-based support techniques. Long-term management considerations highlighted the potential of home-based and school-based therapies, emphasizing multidisciplinary collaboration for sustained progress. The case report underscores the effectiveness of PM&R in addressing the intricate challenges of Möbius syndrome and related conditions, offering insights for future clinical practice and research.

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).

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

Deciphering unilateral congenital facial palsy in neonates: A case series and literature review

Unilateral facial palsy in neonatal period either occurs in isolation or in association of a syndrome. We report three neonates, two boys and one girl, who presented with unilateral facial palsy at birth. Clinical assessment was performed by a neonatologist, ear-nose-throat (ENT) surgeon, an ophthalmologist and a physiotherapist. Magnetic resonance imaging (MRI) of the brain in two neonates and additional computerized tomography (CT) of the temporal bone in one patient was done to exclude developmental anomalies of the facial nerve. Imaging revealed an underlying underdevelopment etiology with absence of cochlea in one neonate. These findings point towards the importance of imaging and systematic diagnostic work-up. This article describes a multidisciplinary approach toward unilateral, isolated congenital facial palsy along with a literature review. Role of physiotherapy, auditory rehabilitation, and other medical and surgical options have also been discussed.

Supplemental Material for Sensitivity to Basic Emotional Expressions and the Emotion Perception Space in the Absence of Facial Mimicry: The Case of Individuals With Congenital Facial Palsy

Supplemental Material for Sensitivity to Basic Emotional Expressions and the Emotion Perception Space in the Absence of Facial Mimicry: The Case of Individuals With Congenital Facial Palsy

Evidence-Based Practices in Facial Reanimation Surgery.

After studying this article, the participant should be able to: 1. Describe the causes and preoperative evaluation of facial paralysis. 2. Discuss techniques to restore corneal sensation and eyelid closure, elevation of the upper lip for smile, and depression of the lower lip for lip symmetry. 3. Outline treatment goals, surgical treatment options, timing of repair, and other patient-specific considerations in appropriate technique selection. Congenital facial paralysis affects 2.7 per 100,000 children; Bell palsy affects 23 per 100,000 people annually; and even more people are affected when considering all other causes. Conditions that impair facial mimetics impact patients' social functioning and emotional well-being. Dynamic and static reconstructive methods may be used individually or in concert to achieve adequate blink restoration, smile strength and spontaneity, and lower lip depression. Timing of injury and repair, patient characteristics such as age, and cause of facial paralysis are all considered in selecting the most appropriate reconstructive approach. This article describes evidence-based management of facial paralysis.

Testing EEG functional connectivity between sensorimotor and face processing visual regions in individuals with congenital facial palsy.

Moebius syndrome (MBS) is characterized by the congenital absence or underdevelopment of cranial nerves VII and VI, leading to facial palsy and impaired lateral eye movements. As a result, MBS individuals cannot produce facial expressions and did not develop motor programs for facial expressions. In the latest model of sensorimotor simulation, an iterative communication between somatosensory, motor/premotor cortices, and visual regions has been proposed, which should allow more efficient discriminations among subtle facial expressions. Accordingly, individuals with congenital facial motor disability, specifically with MBS, should exhibit atypical communication within this network. Here, we aimed to test this facet of the sensorimotor simulation models. We estimated the functional connectivity between the visual cortices for face processing and the sensorimotor cortices in healthy and MBS individuals. To this aim, we studied the strength of beta band functional connectivity between these two systems using high-density EEG, combined with a change detection task with facial expressions (and a control condition involving non-face stimuli). The results supported our hypothesis such that when discriminating subtle facial expressions, participants affected by congenital facial palsy (compared to healthy controls) showed reduced connectivity strength between sensorimotor regions and visual regions for face processing. This effect was absent for the condition with non-face stimuli. These findings support sensorimotor simulation models and the communication between sensorimotor and visual areas during subtle facial expression processing.

Congenital facial nerve palsy: Single center study.

This study will list the most common comorbidities of congenital facial nerve palsy and how to detect and treat them, with special attention for ENT-problems such as hearing loss. Congenital facial nerve palsy is a very rare entity but in UZ Brussels hospital there was a follow-up of 16 children in the last 30 years. Literature review has been done, combined with thorough research of our own series of 16 children with congenital facial nerve palsy. Congenital facial nerve palsy can be part of a known syndrome, most commonly Moebius syndrome, but can also appear solely. It appears often bilateral and with a severe gradation. In our series, hearing loss is frequently seen in association with congenital facial nerve palsy. Other abnormalities are dysfunction of the abducens nerve, ophthalmological problems, retro- or micrognathism and abnormalities of limbs or heart. The majority of the children in our series underwent radiological imaging (CT and/or MRI): the facial nerve but also the vestibulocochlear nerve and middle and inner ear can be evaluated. A multidisciplinary approach of congenital facial nerve palsy is recommended as it can affect various bodily functions. Radiological imaging needs to be done to acquire additional information that can be useful for diagnostic and therapeutic purposes. Although congenital facial nerve palsy may not be treatable itself, its comorbidities can be treated and improve the quality of life of the affected child.

Facial palsy in a newborn: A case report

Unilateral congenital facial palsy in the newborn occurs more often as isolated than in the context of syndromes or developmental defects. Recognition of the etiological factor, the severity of the clinical presentation, the dynamics of recovery are a guide for a multidisciplinary approach, a range of investigations and treatment. In a non-therapeutic approach, unsupported by sufficiently reliable data from the literature, there is a dilemma whether and how long one has to wait and observe the improvement of clinical results, before determining the range of examinations in the newborn. In facial paresis of prenatal or perinatal origin, identical to non-congenital Bell's palsy, infectious and anatomical-structural causes should initially be excluded. This paper presents a case of a symmetrical hypotrophic premature infant with a manifestation of acute Bell's palsy at birth, with negative biomarkers for infectious etiology and a normal brain ultrasound. The newborn underwent a special neonatal care with targeted local treatment. Towards the end of the first postnatal week, there was an evident withdrawal of clinical symptomatology.

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications.

Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost-effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported. In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator. Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities. Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.

"Effects of Real-Time iEMG Biofeedback on Facial Muscle Activation Patterns in a Child with Congenital Unilateral Facial Palsy"

"Effects of Real-Time iEMG Biofeedback on Facial Muscle Activation Patterns in a Child with Congenital Unilateral Facial Palsy"

Degenerate pathway for processing smile and other emotional expressions in congenital facial palsy: an hdEEG investigation.

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’.

Dual-Innervated Free Gracilis Muscle Transfer for Facial Reanimation in Children.

Facial palsy may have deleterious effects for pediatric patients. The most common reconstruction is 2-stage free gracilis muscle transfer (FGMT) after cross-face nerve graft (CFNG). This requires a prolonged period from time of surgery to smile. New techniques using both a CFNG and motor nerve to masseter (MNM) as dual power sources in a single-stage surgery have been described in adults. Here, we examine our experience with this technique in children. A retrospective study was performed examining patients who underwent dual-innervated single-stage FGMT at 2 pediatric hospitals from 2016 to 2019. Demographics, etiology, perioperative characteristics, time to mandibular and emotional smile, and Sunnybrook scores were recorded. Five patients met inclusion criteria with a mean age of 11.8 (range, 8-20). Two patients had congenital facial palsy while 3 had acquired facial palsy. Four patients (80%) received dual end-to-end neural coaptations of the CFNG and MNM to the obturator nerve. One (20%) had end-to-side coaptation of the CFNG to the obturator nerve and end-to-end of the MNM to the obturator nerve. The average time to mandibular smile was 103 ± 15.4 days. The average time to emotional smile was 245 ± 48.1 days. The preoperative Sunnybrook scale was 32 ± 7.5 and improved to 55.3 ± 20.6 at 8 months postoperatively. Dual-innervated FGMT is effective for facial reanimation in children with unilateral facial palsy. Patients can harness a stronger motor source (MNM) and the component of an emotional stimulus (CFNG). This approach may be the new criterion standard pediatric facial reanimation.

Neonatal facial palsy without forceps use: report of two cases and review

<p class="abstract">Neonatal facial palsy is a very rare diagnosis with only a few previously published cases of newborns, it can have varying etiologies apart from traumatic causes. The congenital, infectious, inflammatory, neoplastic causes must be eliminated before making the definitive diagnosis of traumatic facial paralysis. A multidisciplinary approach is recommended to differentiate various causes and initiate treatment in a timely manner. Corticosteroids have been used to minimize nerve damage and hasten recovery in the most of studies. We report in this work two cases at 2 and 3 days old of congenital unilateral facial palsy in newborns without history of obstetrical trauma with a good prognosis after corticosteroids with complete resolution.</p>

A Case of Congenital Facial Nerve Palsy with Microtia

Congenital facial nerve palsy is defined as the presence of seventh cranial nerve palsy at birth or shortly thereafter. Itoccurs due to paralysis of muscles of facial expressions. It is mostly developmental or due to birth trauma. It is rare to be bornwith unilateral facial nerve palsy with associated ear anomaly, and hence determining the etiology is pivotal in accessing theprognosis and for selecting the right treatment for better outcome. In this case, a child is born with unilateral left -sided lowermotor neuron type facial palsy, along with left sided microtia with no history of birth trauma or any associated congenital anomalies.Therefore, it is of developmental origin and does not fit into any syndromic diagnosis with an magnetic resonance imaging brainshowing normal facial nerve anatomy. Child had little improvement in facial expressions with better eye closure with regularphysiotherapy. Facial reanimation surgeries can be done either in preschool or adolescent period depending on the child’scondition. In this case, the child is being managed conservatively until he is fit enough to perform facial reanimation surgeries.

Lagophthalmos: An etiological lookout to frame the decision for management.

To describe the etiology, clinical profile, duration of lagophthalmos cases and thereby, framing a decision for the management based on the severity of Exposure keratitis (EK), Facial palsy (FP) with each etiology and to describe the outcome of the management options. The method was a prospective review of 120 lagophthalmos cases treated at a single tertiary center from January 2018 to January 2019. The main outcome measures were analysing the association between age, etiology, duration and management of lagophthalmos. Of the 120 patients studied, paralytic etiology was noted in 86 and eyelid etiology in 34 patients. The percentage of various lagophthalmos etiology documented were Bell's palsy (35.83%), lagophthalmos in ICU patients (15%), traumatic facial palsy(FP) (10.80%), stroke associated FP (6.67%), infection associated FP (6.67%), iatrogenic FP, cicatricial lagophthalmos (5%), lagophthalmos post eyelid surgeries (5%), neoplastic FP(3.33%), congenital FP (1.67%), proptosis induced lagophthalmos (1.67%), floppy eyelid syndrome induced lagophthalmos (0.83%) and lid coloboma associated lagophthalmos (0.83%). A statistically significant correlation was noted between exposure keratitis and age, with an increased prevalence age advances. The management showed significant variation with individual etiology, with some etiologies unquestionably requiring surgical management. Surgical management is crucial as the duration of lagophthalmos increases more than 6 weeks, EK involving pupillary axis and poor FP recovery. This study concludes that the conservative management was sufficient in all cases when the duration is less than 1 week, Exposure keratitis not involving the pupillary axis (EK< Grade II) and FP with good functional recovery ( FP < Grade III). The predominant causes being Bell's palsy, lagophthalmos in ICU patients and vascular FP. Whereas, cases with poor functional recovery of facial palsy(FP) and permanent eyelid deformation require definitive surgical management like Traumatic FP & cicatricial lagophthalmos.

Facial Nerve Anomalies as an Obscure Co-occurrence With External Ear Malformations: A Case Report

This study reports an infant with a rare triad of congenital facial palsy, bilateral aural atresia, and middle ear malformations. We highlight the audiological test battery in detail that led to identifying this obscure co-occurrence in a 6-month-old infant. The challenges associated with identifying such rare conditions, especially in infants, can be overcome only by incorporating a meticulous and vigilant approach. The infant was subjected to a series of subjective and objective audiological evaluations, through which rare asymmetric facial grimaces were vigilantly observed. This observation warranted radiologic investigation, which confirmed the suspicion that the anomaly may not be restricted to auditory structures alone. As facial nerve anomalies were confirmed, diversified recommendations, including speech, language, and swallow evaluation, were made apart from the auditory management. Hence in cases of external ear anomalies, although rare, it is essential to rule out facial nerve abnormalities as they can be a concealed problem.

Zygomatic Muscle Neurotization with Nerve Grafts and End-to-Side Neurorrhaphies: A New Technique for Facial Palsy.

Summary:Moebius syndrome is a rare congenital facial palsy that can generate serious emotional repercussions, mainly due to the inability to smile. Currently, no treatment is available; however, surgery can restore muscle function. This case report introduces a new technique for the treatment of Moebius syndrome with zygomatic muscle neurotization using nerve grafts and end-to-side neurorrhaphies, in a 3-year-old girl diagnosed with bilateral Moebius syndrome who was unable to smile on the left side. After 4 years, the patient presented with full smile restoration on the left side, with right and left independent movements and complete symmetry.