The social effect of "being imitated" in children with autism spectrum disorder

There is evidence that "being imitated" has social effects, and that the imitation of the child's actions may be used as a strategy to promote social engagement in children with autism spectrum disorder (ASD). The observation of someone that imitates us recruits, indeed, neural areas involved in social cognition. We reviewed studies exploring the behavioral consequences of "being imitated" in children with ASD. We aimed at assessing what are the social skills targeted by this strategy, and the factors that may improve the response. The "being imitated" strategy improves social gazes, proximal social behaviors, and play skills, particularly in children with low developmental level, and also when the strategy is implemented by children's mothers. The "being imitated" may be used as a tool in early intervention to improve social skills, helping to assess the effects of intervention at both behavioral and neural level

How attention to faces and objects changes over time in toddlers with autism spectrum disorders: Preliminary evidence from an eye tracking study

Further understanding of the longitudinal changes in visual pattern of toddlers with autism spectrum disorders (ASDs) is needed. We examined twelve 19 to 33-month-old toddlers at their first diagnosis (mean age: 25.1 months) and after six months (mean age: 31.7 months) during two initiating joint attention (IJA) tasks using eye tracking. Results were compared with the performance of age-matched typically developing (TD) toddlers evaluated at a single time-point. Autistic toddlers showed longitudinal changes in the visual sensory processing of the IJA tasks, approaching TD performance with an improvement in the ability to disengage and to explore the global space. Findings suggest the use of eye tracking technology as an objective, non-intrusive, adjunctive tool to measure outcomes in toddlers with ASD

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS

Safety and Efficacy of Donor T Cells Engineered with Herpes Simplex Virus Thymidine-Kinase Suicide Gene (TK Cells) Given after T-Cell Depleted (TCD) Haploidentical Hematopoietic Transplantation (Haplo-HSCT): Results of a 14-Year Follow-Up in 45 Patients

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The Formation of Cosmic Structures in a Light Gravitino Dominated Universe

We analyse the formation of cosmic structures in models where the dark matter is dominated by light gravitinos with mass of $100$ eV -- 1 keV, as predicted by gauge-mediated supersymmetry (SUSY) breaking models. After evaluating the number of degrees of freedom at the gravitinos decoupling ($g_*$), we compute the transfer function for matter fluctuations and show that gravitinos behave like warm dark matter (WDM) with free-streaming scale comparable to the galaxy mass scale. We consider different low-density variants of the WDM model, both with and without cosmological constant, and compare the predictions on the abundances of neutral hydrogen within high-redshift damped Ly--$\alpha$ systems and on the number density of local galaxy clusters with the corresponding observational constraints. We find that none of the models satisfies both constraints at the same time, unless a rather small $\Omega_0$ value (\mincir 0.4) and a rather large Hubble parameter (\magcir 0.9) is assumed. Furthermore, in a model with warm + hot dark matter, with hot component provided by massive neutrinos, the strong suppression of fluctuation on scales of \sim 1\hm precludes the formation of high-redshift objects, when the low--$z$ cluster abundance is required. We conclude that all different variants of a light gravitino DM dominated model show strong difficulties for what concerns cosmic structure formation. This gives a severe cosmological constraint on the gauge-mediated SUSY breaking scheme.Comment: 28 pages,Latex, submitted for publication to Phys.Rev.

Light Gravitinos as Mixed Dark Matter

In theories with a gauge-mediated mechanism of supersymmetry breaking the gravitino is likely to be the lightest superparticle and, hence, a candidate for dark matter. We show that the decay of the next-to-lightest superparticle into a gravitino can yield a non-thermal population of gravitinos which behave as a hot dark matter component. Together with the warm component, which is provided by the population of gravitinos of thermal origin, they can give rise to viable schemes of mixed dark matter. This realization has some specific and testable features both in particle physics and astrophysics. We outline under which conditions the mechanism remains viable even when R parity is broken.Comment: 18 pages, LaTeX, no figur

Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.

INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. ETHICS AND DISSEMINATION: BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders