Silverkearns3573

A deficit in pre-cognitively mirroring other people's actions and experiences may be related to the social impairments observed in autism spectrum disorder (ASD). However, it is unclear whether such embodied simulation deficits are unique to ASD or instead are related to motor impairment, which is commonly comorbid with ASD. Here we aim to disentangle how, neurologically, motor impairments contribute to simulation deficits and identify unique neural signatures of ASD. We compare children with ASD (N = 30) to children with Developmental Coordination Disorder (DCD; N = 23) as well as a typically developing group (N = 33) during fMRI tasks in which children observe, imitate, and mentalize about other people's actions. Results indicate a unique neural signature in ASD during action observation, only the ASD group shows hypoactivity in a region important for simulation (inferior frontal gyrus, pars opercularis, IFGop). However, during a motor production task (imitation), the IFGop is hypoactive for both ASD and DCD groups. For all tasks, we find correlations across groups with motor ability, even after controlling for age, IQ, and social impairment. Conversely, across groups, mentalizing ability is correlated with activity in the dorsomedial prefrontal cortex when controlling for motor ability. These findings help identify the unique neurobiological basis of ASD for aspects of social processing. Furthermore, as no previous fMRI studies correlated brain activity with motor impairment in ASD, these findings help explain prior conflicting reports in these simulation networks.

Norwegian Psychomotor Physiotherapy (NPMP) has been an established treatment approach for more than 50 years, mostly in the Scandinavian countries, usually applied to patients with widespread and long-lasting musculoskeletal pain and/or psychosomatic disorders. Few studies have investigated the outcomes of NPMP, and no randomized clinical trials (RCT) with a comparing treatment group have systematically been tried out on individuals.

This is a pragmatic, single-blinded RCT where 128 participants with long-lasting widespread musculoskeletal pain and/or pain located to the neck and shoulders were block randomized to NPMP or Cognitive Patient Education combined with active individualized physiotherapy (COPE-PT). Intention-to-treat with linear mixed models were used to estimate the group differences in treatment effects. The outcomes at 3, 6, and 12 months follow-up were pain intensity, function, anxiety and depression, quality of life, sleep, fear of movement, and subjective health complaints. Risk profile (Örebro) was examined at 3 and 6 months. All participants underwent physical tests at baseline and 6 months.

One-year data were available for 66.4% of the original participants. Calculated with intention-to-treat analysis, at 3 months statistically significant differences were found in favor of COPE-PT for pain, anxiety and depression, quality of life-physical dimension, risk profile and fear of movement. At 6 months, statistically significant differences in favor of COPE-PT were found for anxiety and depression, and sleep. At 12 months, the improvements were still statistically significant for anxiety, depression and sleep. Both groups improved, but no statistically significant differences were found between the groups on the physical tests at 6 months.

COPE-PT, which is targeted towards pain-coping and increasing activity, contribute to more improvements than NPMP.

COPE-PT, which is targeted towards pain-coping and increasing activity, contribute to more improvements than NPMP.We report the case of a patient with a clinical phenotype characterized by distal lower limb weakness and pes cavus. The electrophysiological study showed slightly reduced or normal amplitude of motor potentials, a decremental response to repetitive nerve stimulation and post-exercise facilitation. Muscle biopsy showed only mild neurogenic features. Genetic analysis included a clinical exome sequencing, followed by Sanger analysis. Three-dimensional (3D) models were generated with a SwissModel (https//swissmodel.expasy.org/) to explain the clinical observations and reinforce the pathogenic nature of the genetic variant identified. Genetic analysis demonstrated a new de novo heterozygous in frame deletion of the SYT2 gene (NM_177402.4 c.1082_1096del), confirmed by Sanger sequencing, which removes five aminoacids in the C2B domain of synaptotagmin-2 protein, that cause a profound effect on the structure and function of this synaptic vesicle protein. We identified a de novo genetic variant in the SYT2 gene, further supporting its association with a highly stereotyped clinical and electrophysiological phenotype. DMXAA mw Our case showed electrophysiological features consistent with a presynaptic dysfunction in the neuromuscular junction with normal post-exercise amplitudes, not supporting the presence of predominant axonal damage. Although the analysis of SYT2 gene should be included in genetic analysis of patients presenting with this clinical phenotype that mimics motor neuropathy, clinicians have to consider the study of neuromuscular transmission to early identify this potentially treatable condition.Social cognition skills are typically acquired on the basis of visual information (e.g., the observation of gaze, facial expressions, gestures). In light of this, a critical issue is whether and how the lack of visual experience affects neurocognitive mechanisms underlying social skills. This issue has been largely neglected in the literature on blindness, despite difficulties in social interactions may be particular salient in the life of blind individuals (especially children). Here we provide a meta-analysis of neuroimaging studies reporting brain activations associated to the representation of self and others' in early blind individuals and in sighted controls. Our results indicate that early blindness does not critically impact on the development of the "social brain," with social tasks performed on the basis of auditory or tactile information driving consistent activations in nodes of the action observation network, typically active during actual observation of others in sighted individuals. Interestingly though, activations along this network appeared more left-lateralized in the blind than in sighted participants.