-
Frontiers in Neurology 2015In the exploratory study reported here, we tested the efficacy of an intervention designed to train teenagers with Möbius syndrome (MS) to increase the use of...
In the exploratory study reported here, we tested the efficacy of an intervention designed to train teenagers with Möbius syndrome (MS) to increase the use of alternative communication strategies (e.g., gestures) to compensate for their lack of facial expressivity. Specifically, we expected the intervention to increase the level of rapport experienced in social interactions by our participants. In addition, we aimed to identify the mechanisms responsible for any such increase in rapport. In the study, five teenagers with MS interacted with three naïve participants without MS before the intervention, and with three different naïve participants without MS after the intervention. Rapport was assessed by self-report and by behavioral coders who rated videos of the interactions. Individual non-verbal behavior was assessed via behavioral coders, whereas verbal behavior was automatically extracted from the sound files. Alignment was assessed using cross recurrence quantification analysis and mixed-effects models. The results showed that observer-coded rapport was greater after the intervention, whereas self-reported rapport did not change significantly. Observer-coded gesture and expressivity increased in participants with and without MS, whereas overall linguistic alignment decreased. Fidgeting and repetitiveness of verbal behavior also decreased in both groups. In sum, the intervention may impact non-verbal and verbal behavior in participants with and without MS, increasing rapport as well as overall gesturing, while decreasing alignment.
PubMed: 26500605
DOI: 10.3389/fneur.2015.00213 -
Journal of Pediatric Neurosciences 2015Möbius syndrome is a rare congenital disorder presenting with facial diplegia and horizontal gaze disturbance. Patients can have additional cranial nerve palsies and...
Möbius syndrome is a rare congenital disorder presenting with facial diplegia and horizontal gaze disturbance. Patients can have additional cranial nerve palsies and musculoskeletal deformities. Neurofibromatosis Type 1 is an uncommon neurocutaneous disorder. The only plausible link between these two disorders is autosomal dominant pattern of inheritance. Simultaneous occurrence of these two uncommon disorders has not been yet reported in literature, and it is the first case report to the best of our knowledge.
PubMed: 26167228
DOI: 10.4103/1817-1745.159205 -
Nature Communications Jun 2015Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this...
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively. Interestingly, analysis of Plxnd1 and Rev3l mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients.
Topics: Animals; Cell Adhesion Molecules, Neuronal; DNA Damage; DNA-Binding Proteins; DNA-Directed DNA Polymerase; Exome; Heterozygote; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Mice; Mice, Mutant Strains; Mobius Syndrome; Mutation
PubMed: 26068067
DOI: 10.1038/ncomms8199 -
International Archives of... Jul 2014Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy....
Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy. Objective Verify if the speech and language performance of children with MS whose mothers reported use of misoprostol (Cytotec, Pfizer, Connecticut, USA) are different from the performance of children of mothers who did not report use. Methods The stomatognathic system beyond receptive and expressive language and speech was evaluated in children with MS, and their mothers were questioned whether they used misoprostol during the pregnancy. Results During the interview, 61.11% of mothers reported that they took misoprostol during the pregnancy. Most of the subjects (83.3%) whose mothers took misoprostol presented bilateral palsy beyond bad mobility of the tongue (90.9%) and speech disorders (63.6%). Conclusion The number of mothers who took misoprostol without knowing the risk for MS was great. The lack of facial expressions and speech disorders were common characteristics of the individuals with MS, whether the mothers took misoprostol during the pregnancy or not.
PubMed: 25992099
DOI: 10.1055/s-0033-1363466 -
International Archives of... Jul 2014
PubMed: 25992096
DOI: 10.1055/s-0034-1383548 -
Australian Dental Journal Jun 2015Clinical challenges associated with Moebius syndrome, a rare congenital neuromuscular disorder, include orofacial anomalies like microstomia, limited mouth opening and...
BACKGROUND
Clinical challenges associated with Moebius syndrome, a rare congenital neuromuscular disorder, include orofacial anomalies like microstomia, limited mouth opening and severe gag reflex.
METHODS
This case report presents the dental management of an anxious female with Moebius syndrome. For restorations, atraumatic restorative technique (ART), using glass ionomer cement was used with hand instruments.
RESULTS
All necessary dental treatment was completed in the dental chair, thus avoiding the need for a general anaesthetic, and associated complications with airway management due to orofacial abnormalities.
CONCLUSIONS
ART is an appropriate technique for people with microstomia and/or limited mouth opening, such as those with Moebius syndrome. The application of ART can be extended to other special needs patients (people with physical and intellectual disabilities, extreme anxiety, needle phobia and the frail elderly in aged care facilities), where access or cooperation is difficult or limited.
Topics: Dental Caries; Dental Restoration, Permanent; Female; Glass Ionomer Cements; Humans; Mobius Syndrome; Radiography; Young Adult
PubMed: 25989267
DOI: 10.1111/adj.12319 -
Eplasty 2015
PubMed: 25834693
DOI: No ID Found -
Annals of General Psychiatry 2014Originally developed for the treatment of epilepsy, pregabalin has become a compound with a wide spectrum of indications comprising anxiety disorders and chronic pain...
Originally developed for the treatment of epilepsy, pregabalin has become a compound with a wide spectrum of indications comprising anxiety disorders and chronic pain and is therefore largely prescribed. Thus, it is important for clinicians to be aware of rare, but serious adverse effects. The following report illustrates the case of a 20-year-old male with a severe depressive syndrome following pregabalin medication which even led to a suicide attempt.
PubMed: 25489334
DOI: 10.1186/s12991-014-0037-8 -
Journal of Pediatric Genetics Dec 2014The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic...
The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that include POLG mutations, PEO1 mutations, OPA1 mutations and RRM2B mutations. In Kearns-Sayre syndrome, the spontaneous mitochondrial deletions vary from 1.3 to 8.0 kb subunits of the oxidative phosphorylation enzymes and several t-RNA genes are affected. Oculopharyngeal muscle dystrophy is both autosomal dominant and recessive form. Congenital fibrosis of extraocular muscles (CFEOM) 1 has mutations in KIF21A on chromosome 12 with TUBB3 mutation also being seen. CFEOM 2 is an autosomal recessive, genetically distinct entity with homozygous mutations in PHOX2A. CFEOM 3 is autosomal dominant heterozygous missense mutations in TUBB3. Most cases of Mobius syndrome are sporadic with familial cases being autosomal dominant, autosomal recessive or X-linked recessive inheritance. Genetic testing has shown abnormalities involving chromosome 1 and 13. Presynaptic congenital myasthenic syndrome is caused by ChAT (choline acetyltransferase) mutation. Two loci have been found for myotonic dystrophy (DM). DM1, which is associated with trinucleotide expansion on chromosome 19q13.3 and DM2 which is associated with CCTG tetranucleotide expansion at 3q21. Blepharophimosis is caused by mutations in the FOXL2 gene 49 located at chromosome 3q23. Lymphedema-distichiasis is an autosomal dominant disorder caused by mutations in the FOXC2 gene.
PubMed: 27625884
DOI: 10.3233/PGE-14109 -
Journal of Child Psychology and... Jun 2014The field of developmental cognitive neuroscience is now established as a discipline at the nexus of the broader fields of developmental psychology and cognitive...
The field of developmental cognitive neuroscience is now established as a discipline at the nexus of the broader fields of developmental psychology and cognitive neuroscience. Sitting in its rear view mirror, but gaining rapidly, is the nascent discipline of developmental social neuroscience. Given the relative youth of this field, it is not surprising that a great deal of energy has gone into generating a rich corpus of empirical data. As a result, however, we have a plethora of findings but lack a conceptual framework in which to place, integrate, and interpret them. The splendid Annual Research Review article published in this issue by Happé and Frith addresses this shortcoming. The authors offer a scholarly account of developmental social neuroscience. Impressively, their review goes far beyond what is known about typical social development; the paper also discusses a variety of disorders of development, ranging from the rare (e.g., Mobius syndrome) to the highly prevalent (e.g., autism). By including a discussion of disruptions in development, the authors achieve two goals: to educate the reader about a range of developmental disorders to leverage what is known about these disorders to shed light on the mechanisms supporting typical social development.
Topics: Brain; Cognition Disorders; Developmental Disabilities; Humans; Neurosciences; Social Behavior
PubMed: 24828200
DOI: 10.1111/jcpp.12254