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.

Extra- and intramuscular innervation of the masseter: Implications for facial reanimation.

PURPOSE: Irreversible facial paralysis results in significant functional impairment. The motor nerve to the masseter is a reconstructive option, but despite its clinical importance, there are few parametric anatomic studies of the masseteric nerve. The purpose of this study was to investigate the extra- and intramuscular innervation of the masseter in 3D to determine the relationship of the nerve to the muscle heads and identify landmarks to aid identification. MATERIALS AND METHODS: The nerve was dissected throughout its entire course in eight formalin-embalmed cadaveric specimens (mean age 84.9 ± 12.2 years). The nerve was digitized at 1-2 mm intervals using a MicroScribe™ digitizer and modeled in 3D in Autodesk® Maya®. RESULTS: Two or three extramuscular nerves were found to enter the deep head (DH) of the masseter: one main "primary" nerve (n = 8) and one (n = 4) or two (n = 4) smaller primary nerve(s). The main primary nerve supplied both the deep and superficial heads, whereas the smaller primary nerve(s) only supplied the DH. Surgical landmarks for masseter nerve localization were quantified. CONCLUSIONS: Comprehensive mapping of the innervation of the masseter muscle throughout its volume revealed neural partitioning that could provide a basis for safety planning for muscle flaps and donor nerve identification and explain why masseter functional loss is not incurred by donor nerve sacrifice. Quantified landmarks correlate to previous studies and support the constant anatomy of this nerve. Our results provide a basis to optimize surgical approaches for donor nerve and muscle flap surgery.

Parametric Multi-Scale Modeling of the Zygomaticus Major and Minor: Implications for Facial Reanimation.

ABSTRACT: Facial paralysis can severely impact functionality and mental health. Facial reanimation surgery can improve facial symmetry and movement. Zygomaticus minor (Zmin) and zygomaticus major (Zmaj) are 2 important perioral muscles, that function to elevate the upper lip, contributing to the formation of a smile. The objective of this study was to analyze the morphology in three-dimensional (3D) and quantify architectural parameters of Zmin and Zmaj. In ten formalin-embalmed specimens, Zmin and Zmaj were serially dissected and digitized at the fiber bundle level. The 2 muscles were modeled in 3D to construct high fidelity models. The 3D models were used to assess muscle morphology and quantify architectural parameters including mean fiber bundle length, physiological cross-sectional area, and line of action. Zygomaticus minor fiber bundles were oriented horizontally or slightly obliquely and had a muscular attachment to the medial modiolus. Zygomaticus minor was found to either have no partitions or medial and lateral partitions. Specimens with partitions were divided into type 1 and type 2. Type 1 consisted of a medial partition with fiber bundles attaching to the zygomatic bone at the inferior margin of the orbit. The type 2 medial partition attached to the lateral margin of the orbit to attach to the zygomatic bone. Zygomaticus major had obliquely oriented fiber bundles with most specimens having inferior and superior partitions attaching to the inferior aspect of the zygomatic bone. Zygomaticus major was found to have a greater mean fiber bundle length and physiological cross-sectional area than Zmin. The direction of the line of action of Zmin and Zmaj was closely related to fiber bundle arrangement. Detailed 3D anatomical understanding of Zmin and Zmaj, at the fiber bundle level, is critical for reconstructive surgeons performing dynamic facial reanimation. This data can be used to assist with selecting the ideal donor site for reconstruction.

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of the associated features makes determination difficult. To determine what features are associated with Moebius syndrome we performed a systematic literature review resulting in a composite case series of 449 individuals labeled with Moebius syndrome. We applied minimum criteria (facial and abducens palsy) to determine the prevalence of associated clinical features in this series. Additionally, we performed statistical cluster analysis to determine which features tended to occur together. Our study comprises the largest series of patients with Moebius syndrome and the first to apply statistical methodology to elucidate clinical relationships. We present evidence for two groups within the Moebius diagnosis. Type 1: exhibiting micrognathia, limb anomalies and feeding/swallowing difficulty that tend to occur together. Type 2: phenotypically diverse but more associated with radiologically detectable neurologic abnormalities and developmental delay.

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.

The degree of facial movement following microvascular muscle transfer in pediatric facial reanimation depends on donor motor nerve axonal density.

BACKGROUND: Free functional muscle transfer to the face is a standard of facial animation. The contralateral facial nerve, via a cross-face nerve graft, provides spontaneous innervation for the transferred muscle, but is not universally available and has additional shortcomings. The motor nerve to the masseter provides an alternative innervation source. In this study, the authors compared donor nerve histomorphometry and clinical outcomes in a single patient population undergoing free muscle transfer to the face. METHODS: Pediatric patients undergoing dynamic facial (re-)animation with intraoperative nerve biopsies and gracilis transfer to the face powered by either the contralateral facial nerve via a cross-face nerve graft or the motor nerve to the masseter were reviewed over a 7-year period. Myelinated nerve counts were assessed histomorphometrically, and functional outcomes were evaluated with the Scaled Measurement of Improvement in Lip Excursion software. RESULTS: From 2004 to 2011, 91 facial (re-)animation procedures satisfied study inclusion criteria. Average myelinated fiber counts were 6757 per mm2 in the donor facial nerve branch, 1647 per mm in the downstream cross-face nerve graft at the second stage, and 5289 per mm in the masseteric nerve. Reconstructions with either innervation source resulted in improvements in oral commissure excursion and smile symmetry, with the greatest amounts of oral commissure excursion noted in the masseteric nerve group. CONCLUSIONS: Facial (re-)animation procedures with use of the cross-face nerve graft or masseteric nerve are effective and result in symmetric smiles. The masseteric nerve provides a more robust innervation source and results in greater commissure excursion. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Facial nerve grading instruments: systematic review of the literature and suggestion for uniformity.

BACKGROUND: A variety of facial nerve grading scales have been developed over the years with the intended goals of objectively documenting facial nerve function,tracking recovery, and facilitating communication between practitioners. Numerous scales have been proposed; however, all are subject to limitation because of varying degrees of subjectivity, reliability, or longitudinal applicability. At present, such scales remain the only widely accessible modalities for facial functional assessment. The authors' objective was to ascertain which scales(s) best accomplish the goals of objective assessment. METHODS: A systematic review of the English language literature was performed to identify facial nerve grading instruments. Each system was evaluated against the following criteria: convenience of clinical use, regional scoring, static and dynamic measures, features secondary to facial palsy (e.g., synkinesis), reproducibility with low interobserver and intraobserver variability, and sensitivity to changes over time and/or following interventions. RESULTS: From 666 articles, 19 facial nerve grading scales were identified. Only the Sunnybrook Facial Grading Scale satisfied all criteria. The Facial Nerve Grading Scale 2.0 (or revised House-Brackmann Scale) fulfilled all criteria except intraobserver reliability, which has not been assessed. CONCLUSIONS: Facial nerve grading scales intend to provide objectivity and uniformity of reporting to otherwise subjective analysis. The Facial Nerve Grading Scale 2.0 requires further evaluation for intraobserver reliability. The Sunnybrook Facial Grading Scale has been robustly evaluated with respect to the criteria prescribed in this article. Although sophisticated technology-based methodologies are being developed for potential clinical application,the authors recommend widespread adoption of the Sunnybrook Facial Grading Scale as the current standard in reporting outcomes of facial nerve disorders.

Cephalometric outcomes of orthognathic surgery in hemifacial microsomia.

Hemifacial microsomia is a hypoplastic disorder of the first and second branchial arches that significantly impacts on the development of the jaws, leading to malocclusion and facial asymmetry. There is little in the literature regarding the application of orthodontic/orthognathic approaches to the correction of these deformities and the stability of the surgical results. To address this, a retrospective chart review of 10 patients with complete orthodontic records and greater than 1 year of follow-up was performed. Posteroanterior cephalograms were assessed by modified Grummons analysis to determine mandibular offset (deviation of the chin point from the skeletal midline) and occlusal cant. These measurements were performed at 3 time points (T1: preoperative, T2: immediate postoperative, T3: follow-up) to elucidate the surgical movement (T2-T1), the postoperative relapse (T3-T2), and the net gain movement (T3-T1). Maxillary movements were quantified, and the occlusal cant was expressed as a ratio between vertical heights of the maxilla at the first molar on each side. One sample t test demonstrated statistically significant surgical movement and net gain. Relapse was statistically insignificant. Repeated-measures analysis of variance demonstrated similar results for chin point position relative to the putative midline. Our results suggest that a combined orthodontic/orthognathic approach at skeletal maturity delivers improved occlusal outcomes in the long term as assessed by chin point deviation and occlusal cant, but secondary surgery rates are higher than those for orthognathic surgery in other patient groups. We advocate limiting surgery to skeletal maturity whenever possible to achieve stable long-term results while limiting morbidity and number of procedures.

Survey of methods of facial palsy documentation in use by members of the Sir Charles Bell Society.

OBJECTIVES/HYPOTHESIS: Facial palsy manifests a broad array of deficits affecting function, form, and psychological well-being. Assessment scales were introduced to standardize and document the features of facial palsy and to facilitate the exchange of information and comparison of outcomes. The aim of this study was to determine which assessment methodologies are currently employed by those involved in the care of patients with facial palsy as a first step toward the development of consensus on the appropriate assessments for this patient population. STUDY DESIGN: Online questionnaire. METHODS: The Sir Charles Bell Society, a group of professionals dedicated to the care of patients with facial palsy, were surveyed to determine the scales used to document facial nerve function, patient reported outcome measures (PROM), and photographic documentation. RESULTS: Fifty-five percent of the membership responded (n = 83). Grading scales were used by 95%, most commonly the House-Brackmann and Sunnybrook scales. PROMs were used by 58%, typically the Facial Clinimetric Evaluation scale or Facial Disability Index. All used photographic recordings, but variability existed among the facial expressions used. Videography was performed by 82%, and mostly involved the same views as still photography; it was also used to document spontaneous movement and speech. Three-dimensional imaging was employed by 18% of respondents. CONCLUSIONS: There exists significant heterogeneity in assessments among clinicians, which impedes straightforward comparisons of outcomes following recovery and intervention. Widespread adoption of structured assessments, including scales, PROMs, photography, and videography, will facilitate communication and comparison among those who study the effects of interventions on this population.