The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

INTRODUCTION/AIMS: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement. We therefore evaluated orofacial muscle involvement in a sizeable cohort of FSHD participants with muscle ultrasound. METHODS: Muscle ultrasound images of the following orofacial muscles were scored visually and quantitatively: depressor anguli oris (DAO), orbicularis oris (OO), buccinator, temporalis, masseter, digastric, zygomaticus major and minor bilaterally, and the geniohyoid. Reliability analyses of both visual and quantitative evaluations were performed. Ultrasound results were correlated with other measures: the FSHD clinical score, facial weakness score, and facial function scale. RESULTS: We included 107 FSHD participants (male 54%; age 52 ± 14 years), of whom 92% showed signs of facial weakness. The reliability of visual ultrasound analysis varied widely (κ 0.0-1.0). Quantitative ultrasound reliability was high (intraclass correlation analysis ≥ 0.96). The DAO, buccinator, OO, temporalis, and zygomaticus minor muscles were affected most often (15%-39%). The digastric, geniohyoid, zygomaticus major, and masseter muscles were least often affected (<5%). The ultrasound compound score correlated weakly to moderately with other outcome measures used (ρ = 0.3-0.7). DISCUSSION: This study adds to the understanding of orofacial weakness in FSHD, confirming the involvement of the muscles of facial expression in FSHD using ultrasound. We showed that orofacial muscle ultrasound is feasible and reliable when quantitatively assessed. Future studies should evaluate orofacial muscle ultrasound longitudinally, alongside clinical and patient-reported facial weakness outcome measures, to assess their potential as outcome measures.

Facial Function in Bell Palsy in a Cohort of Children Randomized to Prednisolone or Placebo 12 Months After Diagnosis.

BACKGROUND: Information on the medium-term recovery of children with Bell palsy or acute idiopathic lower motor neuron facial paralysis is limited. METHODS: We followed up children aged 6 months to <18 years with Bell palsy for 12 months after completion of a randomized trial on the use of prednisolone. We assessed facial function using the clinician-administered House-Brackmann scale and the modified parent-administered House-Brackmann scale. RESULTS: One hundred eighty-seven children were randomized to prednisolone (n = 93) or placebo (n = 94). At six months, the proportion of patients who had recovered facial function based on the clinician-administered House-Brackmann scale was 98% (n = 78 of 80) in the prednisolone group and 93% (n = 76 of 82) in the placebo group. The proportion of patients who had recovered facial function based on the modified parent-administered House-Brackmann scale was 94% (n = 75 of 80) vs 89% (n = 72 of 81) at six months (OR 1.88; 95% CI 0.60, 5.86) and 96% (n = 75 of 78) vs 92% (n = 73 of 79) at 12 months (OR 3.12; 95% CI 0.61, 15.98). CONCLUSIONS: Although the vast majority had complete recovery of facial function at six months, there were some children without full recovery of facial function at 12 months, regardless of prednisolone use.

Oro-facial function and quality of life in children and adolescents with large horizontal maxillary overjet-A case-control study.

BACKGROUND: Large horizontal maxillary overjet (overjet) is associated with reduced bite force (BF) and number of contacts, which influence the chewing effectivity (CE). Oral health, oro-facial function (OF) and malocclusion have great impact on psychological well-being and quality of life (QoL). OBJECTIVES: The aims of the study were to examine OF, temporomandibular disorders (TMD), BF, CE, QoL and well-being in children and adolescents with large overjet. METHODS: The study was a case-control study including healthy children with large overjet in the study group compared to a control group of healthy children with neutral occlusion, all 9-14 years old. OF was examined by use of Nordic Orofacial Test-Screening (NOT-S), Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) and registration of morphological and functional occlusion. QoL and well-being were examined using KIDSCREEN-10 and Strengths and Difficulties Questionnaire. RESULTS: The study and control groups included 37 and 32 participants, respectively. Significantly increased NOT-S score (p < .001) and reduced BF (p = .011), numbers of contacts (p < .001) and CE (p = .005) were found in the study group. BF, numbers of contacts and CE were negatively associated with erupting canines and premolars. No significant difference was found in age, gender, dental eruption, TMD diagnosis or QoL between the groups. Significantly increased emotional symptoms (p = .007), hyperactivity (p = .043) and total difficulties score (p = .009) were found in the study group. CONCLUSION: The study group showed higher NOT-S score and reduced BF, number of contacts and CE. No difference in QoL were found between the groups, although reduced well-being and increased emotional symptoms, hyperactivity and total difficulties were found in the study group.

Acquired bilateral facial palsy: a systematic review on aetiologies and management.

OBJECTIVE: To systematically review the published cases of bilateral facial palsy (BFP) to gather evidence on the clinical assessment and management of this pathology. METHODS: Following PRISMA statement recommendations, 338 abstracts were screened independently by two authors. Inclusion criteria were research articles of human patients affected by BFP, either central or peripheral; English, Italian, French or Spanish language; availability of the abstract, while exclusion criteria were topics unrelated to FP, and mention of unilateral or congenital FP. Only full-text articles reporting the diagnostic work-up, the management, and the prognosis of the BFP considered for further specific data analysis. RESULTS: A total of 143 articles were included, resulting a total of 326 patients with a mean age of 36 years. The most common type of the paralysis was peripheral (91.7%), and the autoimmune disease was the most frequent aetiology (31.3%). The mean time of onset after first symptoms was 12 days and most patients presented with a grade higher than III. Associated symptoms in idiopathic BFP were mostly non-specific. The most frequently positive laboratory exams were cerebrospinal fluid analysis, autoimmune screening and peripheral blood smear, and the most performed imaging was MRI. Most patients (74%) underwent exclusive medical treatment, while a minority were selected for a surgical or combined approach. Finally, in more than half of cases a complete bilateral recovery (60.3%) was achieved. CONCLUSIONS: BFP is a disabling condition. If a correct diagnosis is formulated, possibilities to recover are elevated and directly correlated to the administration of an adequate treatment.

Postoperative Impact of Pontocerebellar Angle Surgery on the Quality of Life in Patients with Vestibular Schwannoma.

BACKGROUND: Vestibular Schwannomas are benign tumors arising from the VIII CN. Surgical treatment is indicated in case of tumors larger than 2.5 cm in the cerebellopontine angle or in the case of cranial nerve dysfunction. The aim of the present study was to evaluate the QoL by means of the PANQOL questionnaire in a group of surgically treated patients mainly affected by large and giant VS Methods: All patients underwent preoperative and postoperative otoneurological evaluation and gadolinium enhanced MRI and they completed, independently, the PANQOL questionnaire at last follow up. RESULTS: 70% of patients presented with large Koos III or IV VS Each domain of PANQOL showed a strong correlation with the total PANQOL score. In relation to the postoperative facial nerve function, patients with poorer function showed significantly lower score in the facial dysfunction and pain, patients with postoperative balance problems showed a significantly lower PANQOL score for domains of balance and pain. CONCLUSIONS: This study showed that postoperative QoL of patients was acceptable even if there were some domains that were more affected, such as hearing and balance domains; therefore, the lowest scores suggest the need for vestibular rehabilitation programs and strategies that improve postoperative hearing.

Contribution and safety of the side-to-end hypoglossal-to-facial transfer in multidisciplinary facial reanimation.

BACKGROUND: This study evaluates facial and tongue function in patients undergoing side-to-end hypoglossal-to-facial transfer (HFT) with additional techniques. METHODS: Thirty-seven patients underwent a side-to-end HFT. Twelve had additional cross-face grafts, and 9 had an additional masseter-to-facial transfer. Facial was assessed with House-Brackmann (HB), Sunnybrook Facial Grading Scale (SFGS), and eFACE. Martins scale and the Oral-Pharyngeal Disability Index (OPDI) were used to assess tongue function. RESULTS: Ninety-four percent of cases reached HB grades III-IV. Mean total SFGS score improved from 16 ± 15 to 59 ± 11, while total eFACE score from 52 ± 13 to 80 ± 5. Dual nerve transfers were a predictor for a better eFACE total score p = 0.034, ß = 2.350 [95% CI, 0.184-4.516]), as well as for a higher SFGS total score (p = 0.036, ß = 5.412 [95% CI, 0.375-10.449]). All patients had Martin's grade I. Mean postoperative OPDI scores were 84 ± 17 (local physical), 69 ± 16 (simple and sensory motor components), 82 ± 14 (complex functions), and 73 ± 22 (psychosocial). CONCLUSIONS: The side-to-end HFT offers predictable facial function outcome and preserves tongue function in nearly all cases. Dual nerve transfers appear to improve the final outcome.

A conceptual model of oro-facial health with an emphasis on function.

The individual inclination to lead an autonomous life until death is associated with requirements that may be of physiological, psychosocial and environmental nature. We aim to describe a conceptual oro-facial health model with an emphasis on oro-facial function, taking the domains of quality of life and patient-centred values into account. In the context of oro-facial function, the requirements of life are met when the oro-facial system is in a fit state. 'Fitness of the oro-facial system, that is oro-facial health, is a state that is characterised by an absence of, or positive coping with physical disease, mental disease, pain and negative environmental and social factors. It will allow natural oro-facial functions such as sensing, tasting, touching, biting, chewing, swallowing, speaking, yawning, kissing and facial expression'. In the presented conceptual model of oro-facial health, it is postulated that each individual has present and future potentials related to biological prerequisites and resources that are developed by an individual through the course of life. These potentials form the oro-facial functional capacity. When the individual potentials together do not meet the requirements of life anymore, dysfunction and disease result. The oro-facial system is subject to physiological ageing processes, which will inevitably lead to a decrease in the oro-facial functional capacity. Furthermore, comorbid medical conditions might hamper oro-facial function and, alongside with the ageing process, may lead to a state of oral hypofunction. Currently, there is a lack of widespread, validated, easy-to-use instruments that help to distinguish between states of oro-facial fitness as opposed to oral hypofunction. Clearly, research is needed to establish adequate, validated instruments alongside with functional rehabilitation procedures.

Progression of vestibular schawnnoma after GammaKnife radiosurgery: A challenge for microsurgical resection.

OBJECTIVE: We aimed to evaluate the outcome of patients who underwent salvage microsurgery for vestibular schwannoma (VS) that failed primary Gammaknife radiosurgery (GKS). PATIENTS AND METHODS: Among the 1098 patients who received GKS for the treatment of VS in our center between January 2004 and December 2012, the follow-up was organized in our institution for 290 patients who lived in our recruitment area. Tumor progression was noted in 23 patients. A salvage microsurgical resection was performed in 11 patients, who were included in our study. Grading of facial function was done according to the House & Brackman scale. RESULTS: The mean age at diagnosis was 50.2 years (19-68 years) and the mean follow-up was 9.4 years (4-13 years). The mean dose was 11.8 Gy (11-12 Gy) and the mean volume was 922 mm3 (208-2500 mm3). The mean period between GKS and diagnosis of tumor progression was 32 months (18-72 months). Concerning salvage microsurgery, complete resection was obtained in 8 patients. Small residual tumor on the facial nerve was deliberately left in 3 patients and no tumor progression was noted with a mean follow-up of 26 months. At last follow-up, facial nerve function was grade 1 in 4 patients, grade 2 in 3 patients, grade 3 in 1 patient and grade 4 in 3 patients. CONCLUSION: Salvage surgery of recurrent vestibular schwannoma after failed initial GKS remains a good treatment. However, facial nerve preservation is more challenging in this case and small tumor remnant could be sometimes deliberately left.

Long-term side effects on the temporomandibular joints and oro-facial function in patients with obstructive sleep apnoea treated with a mandibular advancement device.

Patients with obstructive sleep apnoea (OSA) in long-term treatment with a mandibular advancement device (MAD) to increase the upper airway space may develop changes in the temporomandibular joint (TMJ) and the oro-facial function due to the protruded jaw position during sleep. The aim was to investigate the influence of long-term MAD treatment on the TMJs, oro-facial function and occlusion. This prospective study included 30 men and 13 women (median age 54) with OSA [Apnoea-Hypopnoea Index (AHI): 7-57]. They were examined with the Nordic Orofacial Test Screening (NOT-S), the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) and cone beam computed tomography (CBCT) of the TMJs. The examination was performed before MAD treatment (T0), and 3-6 months (T1, no CBCT), 1 year (T2) and 3 years (T3) after treatment start. The results were analysed as long term (T0-T3, n = 14) and short term (T0-T2, n = 24) by t-test, Fisher's exact test and anova. Both long- and short-term analyses revealed a reduction in AHI (P < 0·002). Significant long term were increased scores in the NOT-S Interview (P < 0·045), reduced vertical overbite (P < 0·031) and increased jaw protrusive movement (P < 0·027). TMJ changes were found as joint sounds in terms of reciprocal clicking and crepitus, short term as a decrease and subsequent recurrence (P < 0·053; P < 0·037). No significant radiological changes were found. In conclusion, MAD treatment is beneficial to some OSA patients, but might induce changes in the TMJs, the oro-facial function and the occlusion. However, these changes seemed to be less harmful than previously reported with careful adaptation, control and follow-ups.

Surgical outcomes of middle fossa approach in intracanalicular vestibular schwannoma.

CONCLUSION: Middle fossa approach (MFA) shows a hearing preservation rate of 86% and facial nerve function was preserved with HB grade I or II in 93%. MFA is a good treatment option for intra-canalicular vestibular schwannomas when surgical excision is needed. BACKGROUND: Surgical outcomes of vestibular schwannoma have progressively improved with the advancement of microsurgical instruments. MFA is known to have better chances to preserve hearing, while it has limited access to the posterior fossa, limitation of tumor size, and higher risk of post-operative facial nerve weakness. OBJECTIVES: To investigate surgical outcomes and clinical efficiency of MFA in vestibular schwannoma. METHODS: A retrospective study was done in 14 patients who underwent MFA for vestibular schwannoma in Asan Medical Center. RESULTS: The median age at diagnosis was 46.3 years. At initial presentation, 57% of the patients had vertigo, 43% hearing disturbance, and 64% tinnitus. The mean tumor size was 9.7 mm. The tumors were completely resected in 86% of the patients. Hearing was post-operatively preserved in 12 patients and two patients lost their hearing following surgery. Facial nerve function post-operatively remained unchanged in 12 patients (86%).

The timing of surgical treatment of traumatic facial paralysis: a systematic review.

CONCLUSIONS: Surgical decompression performed within 2 weeks yields the best clinical prognosis for patients with TFP. This study also demonstrated that surgical exploration performed within 2 months results in acceptable outcomes. OBJECTIVES: The ideal timing for surgical intervention of traumatic facial paralysis (TFP) is still controversial. A systematic review was performed to appropriately determine the timing of surgical decompression. METHODS: Related studies were identified by searching Pubmed, EMBASE, and Cochrane and reviewing the relevant reference lists until 1 March 2016. Surgical timing was classified into four sub-groups: <2 weeks, 2 weeks-1 month, 1-2 months, and >2 months. RESULTS: Six studies including 119 patients (119 cases) fulfilled the study requirements. The number of patients who achieved perfect recovery of House-Brackmanm (H-B) grade 1 was 40 of 119 patients (33.6%). Good results were demonstrated in 94.4% (17/18) of patients managed with surgical decompression within 2 weeks vs 63.4% (64/101) of patients undergoing surgical intervention at >2 weeks (p = 0.009).

Results of anterior facial nerve rerouting procedures for removing skull base tumors.

OBJECTIVES: The purpose of this study was to estimate the rates of functional recovery of the facial nerve and of total tumor resection in patients who undergo short anterior rerouting and long anterior rerouting of the facial nerve in removal of skull base tumors. METHODS: We retrospectively collected data on 37 patients with skull base tumors who underwent facial nerve rerouting during the procedure for tumor removal. Information on the rerouting technique, the completeness of tumor resection, and changes in facial nerve function were obtained from the medical records. Rerouting techniques were classified as short anterior rerouting or long anterior rerouting. RESULTS: Ten of 16 patients (62.5%) in the group with short anterior rerouting showed postoperative facial palsy, and all completely recovered within 1 year. In the group with long anterior rerouting, 18 of 21 patients (85.7%) showed postoperative facial palsy, and recovery to a preoperative level of facial function was found in 10 patients at 1 year of follow-up. Total tumor resection was possible in 94% and 81% of patients with short rerouting and long rerouting, respectively. The mean operation time was not significantly related to the postoperative recovery of facial function. CONCLUSIONS: Short rerouting techniques, when appropriately chosen on the basis of tumor and patient characteristics, offer excellent preservation of facial function and tumor resection, comparable to those of long rerouting techniques.

Multidirectional lip-closing force in adults with mandibular deviation.

The purpose of this study was to investigate the relationship between multidi-rectional lip-closing force and facial soft tissue morphology in adults with mandibular deviation. Fifteen Japanese adults with mandibular deviation participated in this study. The deviation value was defined as the horizontal distance between soft tissue menton and the facial midline. The side of the soft tissue menton relative to the facial midline was defined as the deviated side and the opposite side as the non-deviated side. The signals of directional lip-closing force (DLCF) were investigated in 8 directions. Total lip-closing force (TLCF) was calculated by adding DLCFs in 8 directions. Correlations and differences between the variables were analysed statistically. Significant positive correlations between TLCF and DLCFs were determined in six directions with the exception of the horizontal direction. Significant positive correlations for seven pairs of opposing DLCFs were found. The lower non-deviated DLCF was smaller than the three pairs of opposing lip-closing forces. Negative significant correlation was found between the deviation value and the upper deviated DLCF (P < 0·05). In individuals with mandibular deviation, lip-closing force in the lower non-deviated direction was found to be smaller than the opposing lip-closing forces. When mandibular deviation was greater, the upper deviated lip-closing force was smaller.