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Developmental Medicine and Child... Apr 2020To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS).
AIM
To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS).
METHOD
We retrospectively analysed the records of 32 patients (21 males, 11 females) with non-progressive bilateral facial and abducens palsies who had been examined before 6 months of age.
RESULTS
All facial muscles were severely involved in 17 patients; in the 15 others, partial movements were found in the lower face. Most patients (n=24) were unable to smile. Patients frequently presented with congenital trismus (n=20) and drooling (n=18). Additional palsies involved cranial nerves IX and X (n=18) and XII (n=25). Sucking was absent or weak in 30 patients; swallowing was impaired in 25. During the first month of life, feeding disorders were graded as severe/moderate in 25. Respiratory complications occurred in 17. Severe feeding disorders were associated with congenital trismus (p=0.01) and with cranial nerve IX and X palsy (p=0.01). Growth failure between 1 and 6 months of age, followed by catch-up growth between 6 and 12 months, was observed in 20 patients. Between 2 and 5 years of age, 25 out of 32 patients attained normal oral diet and 28 out of 29 showed normal growth.
INTERPRETATION
Children with MBS frequently require adjusted therapeutic options to prevent failure to thrive. Congenital trismus, cranial nerve IX and X palsy, and laryngeal-tracheal dysfunctions are predictors of severe feeding disorders.
WHAT THIS PAPER ADDS
Moebius syndrome frequently induces reduced oral intake and early failure to thrive. Normal oral diet and growth parameters are attained at 2 to 5 years of age. Congenital trismus, pharyngeal palsy, and laryngeal disorders predict dysphagia.
Topics: Dyskinesias; Facial Muscles; Female; Humans; Infant; Male; Mobius Syndrome; Retrospective Studies
PubMed: 31713842
DOI: 10.1111/dmcn.14379 -
Psychiatria Danubina Sep 2019Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.
BACKGROUND
Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.
SUBJECTS AND METHODS
Based on a literature review and a case discussion of an adult patient with Mobius syndrome and obsessive-compulsive disorder, initially undiagnosed and confused with a psychotic disorder, we will discuss the influence of Mobius syndrome in psychiatric evaluations.
RESULTS
The lack of facial expressiveness and non-verbal emotional interactions may influence psychiatric evaluations and result in misdiagnosis and the inappropriate prescribing of antipsychotics. In the case analysis, we also observed other associated malformations such as renal atrophy, a bicuspid aortic valve and mitral valve prolapse.
CONCLUSION
We feel that educating the patient about the communicative consequences of impaired facial expressions and facial interactions is a necessary prerequisite for any psychiatric or psychological evaluation in subjects with Mobius syndrome. We also recommend using caution when prescribing antipsychotics in patients with Mobius syndrome given the motor side effects secondary to a potentially pre-existing hypotonia.
Topics: Adult; Antipsychotic Agents; Diagnostic Errors; Facial Expression; Humans; Mobius Syndrome; Nonverbal Communication; Obsessive-Compulsive Disorder
PubMed: 31488755
DOI: No ID Found -
Journal of Neurodevelopmental Disorders Jul 2019Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of...
BACKGROUND
Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of that affective state in the observer, along with related autonomic and somatic responses. What happens, therefore, when someone cannot mimic others' facial expressions?
METHODS
We investigated whether psychophysiological emotional responses to others' facial expressions were impaired in 13 children (9 years) with Moebius syndrome (MBS), an extremely rare neurological disorder (1/250,000 live births) characterized by congenital facial paralysis. We inspected autonomic responses and vagal regulation through facial cutaneous thermal variations and by the computation of respiratory sinus arrhythmia (RSA). These parameters provide measures of emotional arousal and show the autonomic adaptation to others' social cues. Physiological responses in children with MBS were recorded during dynamic facial expression observation and were compared to those of a control group (16 non-affected children, 9 years).
RESULTS
There were significant group effects on thermal patterns and RSA, with lower values in children with MBS. We also observed a mild deficit in emotion recognition in these patients.
CONCLUSION
Results support "embodied" theory, whereby the congenital inability to produce facial expressions induces alterations in the processing of facial expression of emotions. Such alterations may constitute a risk for emotion dysregulation.
Topics: Autonomic Nervous System; Body Temperature; Child; Cognitive Dysfunction; Emotions; Facial Expression; Facial Paralysis; Facial Recognition; Female; Humans; Male; Mobius Syndrome; Respiratory Sinus Arrhythmia; Social Perception
PubMed: 31291910
DOI: 10.1186/s11689-019-9272-2 -
European Journal of Paediatric Dentistry Jun 2019Moebius syndrome (MBS) is a rare disorder which involves unilateral or bilateral paralysis or lack of the VI and VII cranial nerves. This is accompanied by abnormalities...
AIM
Moebius syndrome (MBS) is a rare disorder which involves unilateral or bilateral paralysis or lack of the VI and VII cranial nerves. This is accompanied by abnormalities affecting the head, mouth, upper and lower limbs, and chest. A distinguishing feature of this syndrome is the so-called mask-like face. A small number of publications relating to occlusal and dental bnormalities and documenting the progress of orthodontic treatment has led the authors to present the case of a patient with Moebius syndrome.
CASE REPORT
A patient with Moebius syndrome was initially treated by means of removable appliances and later by means of a fixed appliance after permanent tooth extractions. As a result of the treatment, there was an improvement in the ratio of the posterior facial height to the anterior facial height: Sgo/NGn increased from 55.8% to 59.1%, which is closer to the Caucasian population norm.
CONCLUSION
The aesthetic result was satisfactory both for the patient and for her parents.
Topics: Face; Female; Humans; Mobius Syndrome
PubMed: 31246092
DOI: 10.23804/ejpd.2019.20.02.12 -
Biochimica Et Biophysica Acta. Reviews... Aug 2019Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal... (Review)
Review
Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal guidance and vascular patterning. Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. Emerging data show that expression of Plexin D1 is deregulated in several cancers; it can support tumor development by aiding in tumor metastasis and EMT; and conversely, it can act as a dependence receptor and stimulate cell death in the absence of its canonical ligand, semaphorin 3E. The role of Plexin D1 in tumor development and progression is thereby garnering research interest for its potential as a biomarker and as a therapeutic target. In this review, we describe its discovery, structure, mutations, role(s) in cancer, and therapeutic potential.
Topics: Biomarkers, Tumor; Cell Adhesion Molecules, Neuronal; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Mobius Syndrome; Molecular Targeted Therapy; Neoplasm Metastasis; Neoplasms; Signal Transduction; Truncus Arteriosus
PubMed: 31152824
DOI: 10.1016/j.bbcan.2019.05.004 -
Neural Plasticity 2019According to embodied simulation theories, others' emotions are recognized by the unconscious mimicking of observed facial expressions, which requires the implicit...
According to embodied simulation theories, others' emotions are recognized by the unconscious mimicking of observed facial expressions, which requires the implicit activation of the motor programs that produce a specific expression. Motor responses performed during the expression of a given emotion are hypothesized to be directly linked to autonomic responses associated with that emotional behavior. We tested this hypothesis in 9 children ( = 5.66) affected by Moebius syndrome (MBS) and 15 control children ( = 6.6). MBS is a neurological congenital disorder characterized by underdevelopment of the VI and VII cranial nerves, which results in paralysis of the face. Moebius patients' inability to produce facial expressions impairs their capacity to communicate emotions through the face. We therefore assessed Moebius children's autonomic response to emotional stimuli (video cartoons) by means of functional infrared thermal (fIRT) imaging. Patients showed weaker temperature changes compared to controls, suggesting impaired autonomic activity. They also showed difficulties in recognizing facial emotions from static illustrations. These findings reveal that the impairment of facial movement attenuates the intensity of emotional experience, probably through the diminished activation of autonomic responses associated with emotional stimuli. The current study is the first to investigate emotional responses in MBS children, providing important insights into the role of facial expressions in emotional processing during early development.
Topics: Autonomic Nervous System; Child; Child, Preschool; Emotions; Facial Expression; Facial Paralysis; Facial Recognition; Female; Humans; Male; Mobius Syndrome
PubMed: 31093273
DOI: 10.1155/2019/7253768 -
Human Mutation Aug 2019Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far...
Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) 46,XY,t(7;8;11;13) in a patient with MBS, which revealed 41 clustered breakpoints with typical hallmarks of chromothripsis. Among 12 truncated protein-coding genes, SEMA3A is known to bind to the MBS-associated PLXND1. Intriguingly, the CCR also truncated PIK3CG, which in silico interacts with REVL3 encoded by the other known MBS-gene REV3L, and with the SEMA3A/PLXND1 complex via FLT1. Additional studies of other complex rearrangements may reveal whether the multiple breakpoints in germline chromothripsis may predispose to complex multigenic disorders.
Topics: Chromosome Breakpoints; Chromothripsis; Fatal Outcome; Gene Rearrangement; Germ-Line Mutation; High-Throughput Nucleotide Sequencing; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Middle Aged; Mobius Syndrome; Semaphorin-3A; Semaphorins
PubMed: 31033088
DOI: 10.1002/humu.23775 -
AJNR. American Journal of Neuroradiology May 2019Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings... (Observational Study)
Observational Study
BACKGROUND AND PURPOSE
Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging.
MATERIALS AND METHODS
An observational cross-sectional study was performed to assess brain MR imaging findings in 38 patients with Moebius syndrome studied between 2013 and 2016.
RESULTS
Retrospective analysis of MR imaging studies showed flattening of the floor of the fourth ventricle floor secondary to a bilateral absent facial colliculus in 38 patients (100%) and unilateral absence in 1. A hypoplastic pons was found in 23 patients (60.5%). Mesencephalic malformations consisted of tectal beaking in 15 patients (39.5%) and increased anteroposterior midbrain diameter with a shallow interpeduncular cistern in 12 (31.6%). Infratentorial arachnoid cysts were found in 5 patients (13.2%), and cerebellar vermis hypoplasia, in 2 (5.3%). Supratentorial findings included the following: thalamic fusion (26.3%), periventricular nodular heterotopias (26.3%), ventriculomegaly (26.3%), callosal abnormalities (23.7%), and hippocampal malrotations (23.7%).
CONCLUSIONS
Findings seen in this large patient cohort agreed with previously published reports. Flattening of the fourth ventricle floor secondary to a bilaterally absent facial colliculus was the most frequent MR imaging finding. The presence of other brain stem and cerebellar malformations as well as supratentorial abnormalities may help explain clinical symptoms and achieve a correct diagnosis.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Cohort Studies; Cross-Sectional Studies; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Mobius Syndrome; Neuroimaging; Retrospective Studies; Young Adult
PubMed: 30948378
DOI: 10.3174/ajnr.A6028 -
Genes, Brain, and Behavior Jan 2019According to the Darwinian perspective, facial expressions of emotions evolved to quickly communicate emotional states and would serve adaptive functions that promote... (Review)
Review
According to the Darwinian perspective, facial expressions of emotions evolved to quickly communicate emotional states and would serve adaptive functions that promote social interactions. Embodied cognition theories suggest that we understand others' emotions by reproducing the perceived expression in our own facial musculature (facial mimicry) and the mere observation of a facial expression can evoke the corresponding emotion in the perceivers. Consequently, the inability to form facial expressions would affect the experience of emotional understanding. In this review, we aimed at providing account on the link between the lack of emotion production and the mechanisms of emotion processing. We address this issue by taking into account Moebius syndrome, a rare neurological disorder that primarily affects the muscles controlling facial expressions. Individuals with Moebius syndrome are born with facial paralysis and inability to form facial expressions. This makes them the ideal population to study whether facial mimicry is necessary for emotion understanding. Here, we discuss behavioral ambiguous/mixed results on emotion recognition deficits in Moebius syndrome suggesting the need to investigate further aspects of emotional processing such as the physiological responses associated with the emotional experience during developmental age.
Topics: Emotions; Facial Expression; Facial Recognition; Humans; Mobius Syndrome
PubMed: 30604920
DOI: 10.1111/gbb.12548 -
Anales de Pediatria Oct 2019
Topics: Airway Management; Female; Humans; Infant, Newborn; Male; Mobius Syndrome; Retrospective Studies
PubMed: 30583993
DOI: 10.1016/j.anpedi.2018.11.008