-
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 -
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 -
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 -
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