George Frankl: an undervalued voice in the history of autism

This paper aims to propose that the psychiatrist George Frankl had more than a marginal role in the early history of autism. Frankl’s conception of autism as characterized by a lack of affective language has influenced both Asperger and Kanner. First, this proposal is historically supported; second it is corroborated by Frankl’s unpublished manuscript on Autism. We found that Frankl’s perspective about autism was, and still can be, considered innovative for multiple reasons. Specifically, Frankl proposed that autism could cover a spectrum of conditions; that it is a state of mind that is not necessarily abnormal; and that it is a neurobiological condition, which primarily needs to be understood by others. Finally, Frankl’s concepts of affective contact and affective language are reconsidered with reference to contemporary neuropsychology from which autism emerges not as a higher-order cognitive deficit, but as a result of an impairment of primordial ability to process low level sensory, motor and perceptual information gained through experiencing other persons

Fault-trapped waves depict continuity of the fault system responsible for the 6 April 2009 MW 6.3 L’Aquila earthquake, central Italy

We investigate fault-trapped waves observed at a permanent broad-band station (FAGN) installed on the San Demetrio Fault, about 20 km southeast of L'Aquila. This fault has the same strike of the Paganica Fault which was responsible for the MW 6.3, 6 April 2009 earthquake. The two faults display an en-echelon pattern with a few km offset. We have found that events causing efficient trapped waves are clustered at the northwestern and southeastern bottom ends of the ruptured Paganica fault plane. The efficiency of trapped waves at FAGN, which is located about 5 km far from the ruptured fault plane, indicates that the two faults are linked at depth. This suggests that fault segments in the study area can be part of a longer and continuous fault system which controls the seismic hazard of the region. Moreover, we have found that the two earthquake clusters generating the most efficient trapped waves occur in portions of the fault system with the highest fluid pressure

Sympathetic arousal in children with oppositional defiant disorder and its relation to emotional dysregulation

Background: Emotional dysregulation (ED) is a trans-nosographical condition characterized by mood instability, severe irritability, aggression, temper outburst, and hyper-arousal. Pathophysiology of emotional dysregulation and its potential biomarkers are an emerging field of interest. A Child Behaviour Checklist (CBCL) profile, defined as Dysregulation Profile (DP), has been correlated to ED in youth. We examined the association between the CBCL-DP and indices of sympathetic arousal in children with Oppositional Defiant Disorder (ODD) and healthy controls. Method: The current study sought to compare the arousal level measured via electrodermal activity in response to emotional stimuli in three non-overlapping groups of children: (1) ODD+CBCL-DP (n = 28), (2) ODD without CBCL-DP (n = 35), and (3) typically developing controls (n = 25). Results: Analyses revealed a distinct electrodermal activity profile in the three groups. Specifically, children with ODD+CBCL-DP presented higher levels of sympathetic arousal for anger and sadness stimuli compared to the other two groups. Limitations: The relatively small sample and the lack of assessing causality limit the generalizability of this study which results need to be replicated in larger, different samples. Conclusion: The CBCL-DP was associated to higher levels of arousal for negative emotions, consistently with previous reports in individuals with depression and anxiety. Further work may identify potential longitudinal relationships between this profile and clinical outcomes

Prevalence and clinical features of celiac disease in a cohort of italian children with autism spectrum disorders

Background: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental conditions whose etiopathogenesis derives from a complex interaction between genetic liability and environmental factors. In this framework, mounting evidence suggests that immune system dysfunction could be a risk factor contributing to the development of ASD in at least a subpopulation of individuals. In particular, some studies suggest an association between celiac disease (CD)—a long‐term autoimmune disorder that primarily affects the small intestine triggered by the ingestion of gluten—and ASD, while others hypothesized a random link. This investigation aimed to evaluate the prevalence of CD in a large sample of school‐aged children with ASD and to characterize their clinical profile. Methods: Medical records of 405 children with ASD aged 5–11 years (mean age: 7.2 years; SD: 1.8 years) consecutively referred to a tertiary‐care university hospital between January 2014 and December 2018 were reviewed; among them, 362 had carried out serological testing for CD. Results: Nine patients with positive CD serology were identified, eight of which satisfied the criteria for CD diagnosis. The estimated CD prevalence in ASD children was 2.18% (95% CI, 0.8–3.7), which was not statistically different (1.58%; p = 0.36) from that of an Italian population, matched for age range, considered as a control group (95% CI, 1.26–1.90). Three out of the eight ASD patients with CD did not have any symptoms suggestive of CD. Conclusions: Our findings did not show a higher prevalence of CD in ASD children than in the control population, but could suggest the utility of routine CD screening, given its frequent atypical clinical presentation in this population

Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD

From Sensing to Action: Quick and Reliable Access to Information in Cities Vulnerable to Heavy Rain

Cities need to constantly monitor weather to anticipate heavy storm events and reduce the impact of floods. Information describing precipitation and ground conditions at high spatio-temporal resolution is essential for taking timely action and preventing damages. Traditionally, rain gauges and weather radars are used to monitor rain events, but these sources provide low spatial resolutions and are subject to inaccuracy. Therefore, information needs to be complemented with data from other sources: from citizens' phone calls to the authorities, to relevant online media posts, which have the potential of providing timely and valuable information on weather conditions in the city. This information is often scattered through different, static, and not-publicly available databases. This makes it impossible to use it in an aggregate, standard way, and therefore hampers efficiency of emergency response. In this paper, we describe information sources relating to a heavy rain event in Rotterdam on October 12-14, 2013. Rotterdam weather monitoring infrastructure is composed of a number of rain gauges installed at different locations in the city, as well as a weather radar network. This sensing network is currently scarcely integrated and logged data are not easily accessible during an emergency. Therefore, we propose a reliable, efficient, and low-cost ICT infrastructure that takes information from all relevant sources, including sensors as well as social and user contributed information and integrates them into a unique, cloud-based interface. The proposed infrastructure will improve efficiency in emergency responses to extreme weather events and, ultimately, guarantee more safety to the urban population

The European Legal Framework on Cybercrime

This article analyzes the European legal framework on cybercrime. Initially, it argues the challenges of cybercrime to traditional criminal justice systems. Subsequently, it focuses on the criminal law framework on cybercrime with a mainly European perspective. The European legal framework provides a three-path solution: the reduction of frictions among national legislations, the introduction of new investigative powers and the facilitation of international cooperation. The article presents and discusses each solution. Further, it argues that the effective implementation of the main legal instruments does not seem to depend on the legal enforceability of these international measures. Contrarily, other, non legal, factors such as national security, politics, the economy and the public opinion appear to stimulate the spontaneous implementation of the European legal framework. In this context, the added value of the EU action is rather low, although the Treaty of Lisbon and the Stockholm Programme may improve this situation in the long ter

Evaluation of altered functional connections in male children with autism spectrum disorders on multiple-site data optimized with machine learning

No univocal and reliable brain-based biomarkers have been detected to date in Autism Spectrum Disorders (ASD). Neuroimaging studies have consistently revealed alterations in brain structure and function of individuals with ASD; however, it remains difficult to ascertain the extent and localization of affected brain networks. In this context, the application of Machine Learning (ML) classification methods to neuroimaging data has the potential to contribute to a better distinction between subjects with ASD and typical development controls (TD). This study is focused on the analysis of resting-state fMRI data of individuals with ASD and matched TD, available within the ABIDE collection. To reduce the multiple sources of heterogeneity that impact on understanding the neural underpinnings of autistic condition, we selected a subgroup of 190 subjects (102 with ASD and 88 TD) according to the following criteria: male children (age range: 6.5–13 years); rs-fMRI data acquired with open eyes; data from the University sites that provided the largest number of scans (KKI, NYU, UCLA, UM). Connectivity values were evaluated as the linear correlation between pairs of time series of brain areas; then, a Linear kernel Support Vector Machine (L-SVM) classification, with an inter-site cross-validation scheme, was carried out. A permutation test was conducted to identify over-connectivity and under-connectivity alterations in the ASD group. The mean L-SVM classification performance, in terms of the area under the ROC curve (AUC), was 0.75 ± 0.05. The highest performance was obtained using data from KKI, NYU and UCLA sites in training and data from UM as testing set (AUC = 0.83). Specifically, stronger functional connectivity (FC) in ASD with respect to TD involve (p < 0.001) the angular gyrus with the precuneus in the right (R) hemisphere, and the R frontal operculum cortex with the pars opercularis of the left (L) inferior frontal gyrus. Weaker connections in ASD group with respect to TD are the intra-hemispheric R temporal fusiform cortex with the R hippocampus, and the L supramarginal gyrus with L planum polare. The results indicate that both under-and over-FC occurred in a selected cohort of ASD children relative to TD controls, and that these functional alterations are spread in different brain networks

Evaluation of chromosome microarray analysis in a large cohort of females with autism spectrum disorders: A single center Italian study

Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD