Intervenção psicomotora na perturbação do espectro do autismo : Centro de Recursos para a Inclusão e Centro de Atividades Ocupacionais da Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo de Lisboa

Caracterizada por défices sociais e da comunicação e por comportamentos restritos e repetitivos, a Intervenção Psicomotora no âmbito da Perturbação do Espectro do Autismo (PEA) ainda é uma área pouco explorada, apesar da intervenção psicomotora poder constituir uma resposta de intervenção em vários domínios e contextos. Este relatório pretende descrever o trabalho realizado no estágio no Ramo de Aprofundamento de Competências Profissionais do Mestrado em Reabilitação Psicomotora. Realizado no Centro de Recursos para a Inclusão (CRI) e no Centro de Atividades Ocupacionais (CAO) da APPDA-Lisboa, ao longo de 8 meses, a intervenção psicomotora destinou-se a um total de 50 crianças, jovens e adultos e foi desenvolvida em contexto de ginásio, meio aquático, equitação terapêutica e sala snoezelen. Este documento divide-se numa revisão teórica da PEA, fundamentos da intervenção psicomotora, enquadramento institucional e legal do estágio, seguido da prática profissional onde se descreve a intervenção com três crianças do CRI e com 11 adultos inseridos do CAO, desde o processo de avaliação, objetivos e plano de intervenção, intervenção psicomotora e análise dos resultados. No final, é realizada uma conclusão reflexiva sobre as atividades de estágio.

Transcatheter Closure of Atrial Septal Defects in a Center With Limited Resources: Outcomes and Short Term Follow-Up

Background: Transcatheter closure of atrial septal defects (ASD) has been accepted world-wide as an alternative to surgical closure with excellent results. This interventional, non-surgical technique plays an important role in the treatment of ASD mostly in the developing world where resources are limited. Objectives: To report the outcomes and short term follow-up of transcatheter closure of ASD over a 12-year period at our institution with limited resources. Patients and Methods: This retrospective study included all patients with the diagnosis of secundum ASD and significant shunting (Qp/Qs > 1.5:1) as well as dilated right atrium and right ventricle who had transcatheter closure at Integrated Cardiovascular Center (PJT), Dr. Cipto Mangunkusumo Hospital between October 2002 and October 2014. One hundred fifty-two patients enrolled in this study were candidates for device closure. Right and left heart cardiac catheterization was performed before the procedure. All patients underwent physical examination, ECG, chest X-ray and transthoracal echocardiography (TTE) prior to device implantation. Results: A total of 152 patients with significant ASD underwent device implantation. Subjects’ age ranged from 0.63 to 69.6 years, with median 9.36 years and mean 16.30 years. They consisted of 33 (21.7%) males and 119 (78.3%) females, with mean body weight of 29.9 kg (range 8 to 75; SD 18.2). The device was successfully implanted in 150 patients where the majority of cases received the Amplatzer septal occluder (147/150; 98%) and the others received the Heart Lifetech ASD occluder (3/150, 2%), whereas two other cases were not suitable for device closure and we decided for surgical closure. The mean ASD size was 19.75 (range 14 - 25) mm. During the procedure, 5 (4.9%) patients had bradycardia and 3 (2.9%) patients had supraventricular tachycardia (SVT), all of which resolved. Conclusions: In our center with limited facilities and manpower, transcatheter closure of atrial septal defect was effective and safe as an alternative treatment to surgery. The outcome and short-term follow-up revealed excellent results, but long-term follow-up is needed.

Bias-induced threshold voltages shifts in thin-film organic transistors

An investigation into the stability of metal-insulator-semiconductor (MIS) transistors based on alpha-sexithiophene is reported. In particular, the kinetics of the threshold voltage shift upon application of a gate bias has been determined. The kinetics follow stretched-hyperbola-type behavior, in agreement with the formalism developed to explain metastability in amorphous-silicon thin-film transistors. Using this model, quantification of device stability is possible. Temperature-dependent measurements show that there are two processes involved in the threshold voltage shift, one occurring at Tapproximate to220 K and the other at Tapproximate to300 K. The latter process is found to be sample dependent. This suggests a relation between device stability and processing parameters. (C) 2004 American Institute of Physics.

Evaluating the effectiveness of discrete trial procedures for teaching receptive discrimination to children with autism spectrum disorders

Research has found that children with autism spectrum disorders (ASD) show significant deficits in receptive language skills (Wiesmer, Lord, & Esler, 2010). One of the primary goals of applied behavior analytic intervention is to improve the communication skills of children with autism by teaching receptive discriminations. Both receptive discriminations and receptive language entail matching spoken words with corresponding objects, symbols (e.g., pictures or words), actions, people, and so on (Green, 2001). In order to develop receptive language skills, children with autism often undergo discrimination training within the context of discrete trial training. This training entails teaching the learner how to respond differentially to different stimuli (Green, 2001). It is through discrimination training that individuals with autism learn and develop language (Lovaas, 2003). The present study compares three procedures for teaching receptive discriminations: (1) simple/conditional (Procedure A), (2) conditional only (Procedure B), and (3) conditional discrimination of two target cards (Procedure C). Six children, ranging in age from 2-years-old to 5-years-old, with an autism diagnosis were taught how to receptively discriminate nine sets of stimuli. Results suggest that the extra training steps included in the simple/conditional and conditional only procedures may not be necessary to teach children with autism how to receptively discriminate. For all participants, Procedure C appeared to be the most efficient and effective procedure for teaching young children with autism receptive discriminations. Response maintenance and generalization probes conducted one-month following the end of training indicate that even though Procedure C resulted in less training sessions overall, no one procedure resulted in better maintenance and generalization than the others. In other words, more training sessions, as evident with the simple/conditional and conditional only procedures, did not facilitate participants’ ability to accurately respond or generalize one-month following training. The present study contributes to the literature on what is the most efficient and effective way to teach receptive discrimination during discrete trial training to children with ASD. These findings are critical as research shows that receptive language skills are predictive of better outcomes and adaptive behaviors in the future. ^

Effects of the Use of the Educreations Application in the Reading Comprehension of an Adolescent with Autism and Speech Delay

Comprehension is one of the most challenging aspects of reading for people with autism spectrum disorder (ASD). The present paper describes an action research that intends to investigate the effect of the use of the Educreations application in the reading comprehension of a 19-year-old boy with ASD and speech delay.

Developing a classification system of social communication functioning of preschool children with autism spectrum disorder

Background: Impairments in social communication are the hallmark feature of autism spectrum disorder (ASD). Operationalizing ‘severity’ in ASD has been challenging; thus stratifying by functioning has not been possible. Purpose: To describe the development of the Autism Classification System of Functioning: Social Communication (ACSF:SC) and evaluate its consistency within and between parent and professional ratings. Methodology: (1)ACSF:SC development based on focus groups and surveys involving parents, educators and clinicians familiar with preschoolers with ASD; and (2)Evaluation of the intra- and inter-rater agreement of the ACSF:SC using weighted kappa(кw). Results: Seventy-six participants were involved in the development process. Core characteristics of social communication were ascertained: communicative intent; communicative skills and reciprocity; and impact of environment. Five ACSF:SC levels were created and content-validated across participants. Best capacity and typical performance agreement ratings varied as follows: intra-rater on 41 children was кw=0.61-0.69 for parents and кw=0.71-0.95 for professionals; inter-rater between professionals were кw=0.47-0.61 and between parents and professionals кw=0.33-0.53. Conclusions: Perspectives from parents, and professionals informed ACSF:SC development, providing common descriptions of the levels of everyday communicative abilities of children with ASD to complement DSM-5. Rater agreement demonstrates the ACSF:SC can be utilized with acceptable consistency in comparison to other functional classification systems.

Galveias

Tradução espanhola da obra GALVEIAS, de José Luís Peixoto

La noche

Traducción española de la obra "A noite", de José Saramago.

José Saramago, ¿Qué haré con este libro?

Traducción española da obra teatral "Que farei com este livro", de José Saramago.

Abriu: Textuality Studies on Brazil, Galicia and Portuga nº 5

Número monográfico da revista ABRIU (U. Barcelona), dedicada ao tema "The 'Livro do Desassossego' by Fernando Pessoa, challenging translators/editors".

Contribution of rare damaging variants in Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a heterogeneous and highly heritable neurodevelopmental disorder with a complex genetic architecture, consisting of a combination of common low-risk and more penetrant rare variants. This PhD project aimed to explore the contribution of rare variants in ASD susceptibility through NGS approaches in a cohort of 106 ASD families including 125 ASD individuals. Firstly, I explored the contribution of inherited rare variants towards the ASD phenotype in a girl with a maternally inherited pathogenic NRXN1 deletion. Whole exome sequencing of the trio family identified an increased burden of deleterious variants in the proband that could modulate the CNV penetrance and determine the disease development. In the second part of the project, I investigated the role of rare variants emerging from whole genome sequencing in ASD aetiology. To properly manage and analyse sequencing data, a robust and efficient variant filtering and prioritization pipeline was developed, and by its application a stringent set of rare recessive-acting and ultra-rare variants was obtained. As a first follow-up, I performed a preliminary analysis on de novo variants, identifying the most likely deleterious variants and highlighting candidate genes for further analyses. In the third part of the project, considering the well-established involvement of calcium signalling in the molecular bases of ASD, I investigated the role of rare variants in voltage-gated calcium channels genes, that mainly regulate intracellular calcium concentration, and whose alterations have been correlated with enhanced ASD risk. Specifically, I functionally tested the effect of rare damaging variants identified in CACNA1H, showing that CACNA1H variation may be involved in ASD development by additively combining with other high risk variants. This project highlights the challenges in the analysis and interpretation of variants from NGS analysis in ASD, and underlines the importance of a comprehensive assessment of the genomic landscape of ASD individuals.

Synthesis and characterization of novel selective NKCC1 inhibitors for the treatment of down syndrome and brain disorders characterized by depolarizing GABAergic transmission.

Proper GABAergic transmission through Cl-permeable GABAA receptors is fundamental for physiological brain development and function. Indeed, defective GABAergic signaling – due to a high NKCC1/KCC2 expression ratio – has been implicated in several neurodevelopmental disorders (e.g., Down syndrome, DS, Autism spectrum disorders, ASD). Interestingly, NKCC1 inhibition by the FDA-approved diuretic drug bumetanide reverts cognitive deficits in the TS65Dn mouse models of DS and core symptoms in other models of brain disorders. However, the required chronic treatment with bumetanide is burdened by its diuretic side effects caused by the antagonization of the kidney Cl importer NKCC2. This may lead to hypokalemia, while jeopardizing drug compliance. Crucially, these issues would be solved by selective NKCC1 inhibitors, thus devoid of the diuretic effect of bumetanide. To this aim, starting from bumetanide’s structure, we applied a ligand-based computational approach to design new molecular entities that we tested in vitro for their capacity to selectively block NKCC1. Extensive synthetic efforts and structure-activity relationships analyses allowed us to improve in vitro potency and overall drug-like properties of the initially identified chemical hits. As a result, we identified a new highly potent NKCC1 inhibitor (ARN23746) that displayed excellent solubility, metabolic stability, and no significant effect on NKCC2 in vitro. Moreover, this novel and selective NKCC1 inhibitor was able to rescue cognitive deficits in DS mice and social/repetitive behaviors in ASD mice, with no diuretic effect and no overt toxicity upon chronic treatment in adult animals. Thus, ARN23746 a selective NKCC1 inhibitor devoid of the diuretic effect – represents a suitable and solid therapeutic strategy for the treatment of Down syndrome and all the brain neurological disorders characterized by depolarizing GABAergic transmission.

Investigating perceptual multisensory impairments in Autism through a neural network: a possible neural implementation for the shift from cross-modal competition to facilitation

Resolution of multisensory deficits has been observed in teenagers with Autism Spectrum Disorders (ASD) for complex, social speech stimuli; this resolution extends to more basic multisensory processing, involving low-level stimuli. In particular, a delayed transition of multisensory integration (MSI) from a default state of competition to one of facilitation has been observed in ASD children. In other terms, the complete maturation of MSI is achieved later in ASD. In the present study a neuro-computational model is used to reproduce some patterns of behavior observed experimentally, modeling a bisensory reaction time task, in which auditory and visual stimuli are presented in random sequence alone (A or V) or together (AV). The model explains how the default competitive state can be implemented via mutual inhibition between primary sensory areas, and how the shift toward the classical multisensory facilitation, observed in adults, is the result of inhibitory cross-modal connections becoming excitatory during the development. Model results are consistent with a stronger cross-modal inhibition in ASD children, compared to normotypical (NT) ones, suggesting that the transition toward a cooperative interaction between sensory modalities takes longer to occur. Interestingly, the model also predicts the difference between unisensory switch trials (in which sensory modality switches) and unisensory repeat trials (in which sensory modality repeats). This is due to an inhibitory mechanism, characterized by a slow dynamics, driven by the preceding stimulus and inhibiting the processing of the incoming one, when of the opposite sensory modality. These findings link the cognitive framework delineated by the empirical results to a plausible neural implementation.

Profilo sensoriale e difficoltà alimentari di bambini con Disturbo Evitante/Restrittivo dell’Assunzione di Cibo e Disturbo dello Spettro Autistico. Uno studio osservazionale

Il Disturbo Evitante/Restrittivo dell’Assunzione di Cibo (ARFID) è un Disturbo della Nutrizione e dell’Alimentazione con tre possibili sottotipi, accomunati dalla persistente insoddisfazione di fabbisogni nutrizionali e/o energetici. Crescenti sono le prove di sovrapposizione con il Disturbo dello Spettro Autistico (ASD), per comuni difficoltà alimentari e sottostanti fattori di sensorialità e rigidità. Lo studio ha caratterizzato un campione di affetti da ARFID e da ASD in età evolutiva; i due gruppi sono stati confrontati per storia clinico-terapeutica e profili indagati ai test: BAMBI-R (Brief Autism Mealtime Behavior Inventory-Revised) per i comportamenti disfunzionali al pasto, SSP-2 (Short Sensory Profile-2) per le alterazioni della sensorialità e RBS-R (Repetitive Behavior Scale-Revised) per i comportamenti stereotipati e ristretti. Il gruppo con ARFID è stato inoltre analizzato per variabili antropometrico-nutrizionali e sottotipi clinici. I soggetti con ARFID presentavano età superiore e più frequenti tratti ansioso-fobici in comorbilità. Ai test sopracitati, gli affetti da ARFID e da ASD convergevano per numerosi aspetti; tuttavia, le difficoltà alimentari (in particolare, la selettività) prevalevano tra i primi, mentre maggiori livelli di sensibilità sensoriale e di comportamenti ristretti, stereotipati e compulsivi caratterizzavano i secondi. Tra i sottotipi clinici di ARFID, spesso co-occorrenti, prevaleva quello selettivo; i tre quadri erano perlopiù comparabili per le variabili indagate e non differivano per aspetti alimentari, comportamentali o sensoriali. In conclusione, gli affetti da ARFID e da ASD si distinguono per alcune peculiari caratteristiche ma collidono per numerose altre. Approfondire lo studio dei fattori implicati nelle difficoltà alimentari condivise, oltre che caratterizzare i fenotipi del DNA in campioni più numerosi, saranno obiettivi da perseguire per un’implementazione di interventi medico-nutrizionali sempre più specifici.