Decision support system for the diagnosis of schizophrenia disorders

Clinical decision support systems are useful tools for assisting physicians to diagnose complex illnesses. Schizophrenia is a complex, heterogeneous and incapacitating mental disorder that should be detected as early as possible to avoid a most serious outcome. These artificial intelligence systems might be useful in the early detection of schizophrenia disorder. The objective of the present study was to describe the development of such a clinical decision support system for the diagnosis of schizophrenia spectrum disorders (SADDESQ). The development of this system is described in four stages: knowledge acquisition, knowledge organization, the development of a computer-assisted model, and the evaluation of the system's performance. The knowledge was extracted from an expert through open interviews. These interviews aimed to explore the expert's diagnostic decision-making process for the diagnosis of schizophrenia. A graph methodology was employed to identify the elements involved in the reasoning process. Knowledge was first organized and modeled by means of algorithms and then transferred to a computational model created by the covering approach. The performance assessment involved the comparison of the diagnoses of 38 clinical vignettes between an expert and the SADDESQ. The results showed a relatively low rate of misclassification (18-34%) and a good performance by SADDESQ in the diagnosis of schizophrenia, with an accuracy of 66-82%. The accuracy was higher when schizophreniform disorder was considered as the presence of schizophrenia disorder. Although these results are preliminary, the SADDESQ has exhibited a satisfactory performance, which needs to be further evaluated within a clinical setting.

Using the Reliable Change Index Statistic to Analyze Developmental Changes in Infants at Risk for Autism Spectrum Disorder

Longitudinal studies of the development of autism spectrum disorders (ASD) provide an understanding of which variables may be important predictors of an ASD. The objective of the current study is to apply the reliable change index (RCI) statistic to examine whether the Parent Observation of Early Markers Scale (POEMS) is sensitive to developmental change, and whether these changes can be quantified along a child’s developmental trajectory. Ninety-six children with older siblings with autism were followed from 1-36 months of age. Group-based RCI analysis confirms that the POEMS is capable of detecting significant changes within pre-defined diagnostic groups. Within-subject analysis suggests that ongoing monitoring of a child at-risk for an ASD requires interpretation of both significant intervals identified by the RCI statistic, as well as the presence of repeated high (i.e., >70) scores. This study provides preliminary evidence for a reasonably sensitive and specific means by which individual change can be clinically monitored via parent report.

Temple Grandin fonds, 1974-2006 (non-inclusive)

Temple Grandin was born in Boston, Massachusetts on August 29,1947 to Richard Grandin and Eustacia Cutler. She was diagnosed with autism at age 2. She suffered from delayed speech development and did not begin to speak until the age of 4. Temple’s mother defied the doctors and kept her out of institutions. Temple was given speech therapy as well as an intensive education. Her high school science teacher and her aunt on a ranch in Arizona inspired Temple to continue her studies and pursue a career as a scientist and livestock equipment designer.She graduated from Hampshire Country School (a boarding school for gifted children) in Ridge, New Hampshire in 1966, and earned a bachelor’s degree in psychology from Franklin Pierce College in 1970. In 1975, she received a master’s degree in animal science from Arizona State University and then a doctoral degree in animal science from the University of Illinois in 1989. She is currently a professor at Colorado State University. Dr. Grandin is one of the world’s leaders in the design of livestock handling facilities. She has done extensive work in design of handling facilities for animals and has developed animal welfare guidelines for the meat industries. Dr. Grandin is a past member of the board of directors of the Autism Society of America. She lectures to parents and teachers throughout the U.S. on her experiences with autism. She makes the case that the world needs people on the autism spectrum: visual thinkers, pattern thinkers and verbal thinkers. Some of Temple Grandin’s books include: Animals Make Us Human, Animals in Translation, The Way I See It, The Autistic Brain, and Different…Not Less. In 2010, a movie entitled “Temple Grandin” starring Clare Danes was released. The movie was based on Grandin’s own writings. Temple Grandin is an expert on animal behavior, a bestselling author, and an autism activist. In 2010, she was listed in the “Heroes” category in the “Time” list of the world’s 100 most influential people. She has received numerous awards including an honorary doctorate from McGill, the University of Illinois and Duke University. Temple Granin is a philosophical leader of both the animal welfare and autism advocacy movements. sources: http://www.templegrandin.com/ http://en.wikipedia.org/wiki/Temple_Grandin

Les neurosciences cognitives du langage, de l'autisme et des styles cognitifs

VERSION ANGLAISE DISPONIBLE AU DÉPARTEMENT; THÈSE RÉALISÉE CONJOINTEMENT AVEC L'ÉCOLE DES SCIENCES DE LA COMMUNICATION DE L'UNIVERSITÉ MCGILL (DRS. K. STEINHAUER ET J.E. DRURY).

Étude du traitement visuel simple et complexe chez les enfants autistes

Les personnes ayant un trouble du spectre autistique (TSA) manifestent des particularités perceptives. En vision, des travaux influents chez les adultes ont mené à l’élaboration d’un modèle explicatif du fonctionnement perceptif autistique qui suggère que l’efficacité du traitement visuel varie en fonction de la complexité des réseaux neuronaux impliqués (Hypothèse spécifique à la complexité). Ainsi, lorsque plusieurs aires corticales sont recrutées pour traiter un stimulus complexe (e.g., modulations de texture; attributs de deuxième ordre), les adultes autistes démontrent une sensibilité diminuée. À l’inverse, lorsque le traitement repose principalement sur le cortex visuel primaire V1 (e.g., modulations locales de luminance; attributs de premier ordre), leur sensibilité est augmentée (matériel statique) ou intacte (matériel dynamique). Cette dissociation de performance est spécifique aux TSA et peut s’expliquer, entre autre, par une connectivité atypique au sein de leur cortex visuel. Les mécanismes neuronaux précis demeurent néanmoins méconnus. De plus, on ignore si cette signature perceptuelle est présente à l’enfance, information cruciale pour les théories perceptives de l’autisme. Le premier volet de cette thèse cherche à vérifier, à l’aide de la psychophysique et l’électrophysiologie, si la double dissociation de performance entre les attributs statiques de premier et deuxième ordre se retrouve également chez les enfants autistes d’âge scolaire. Le second volet vise à évaluer chez les enfants autistes l’intégrité des connexions visuelles descendantes impliquées dans le traitement des textures. À cet effet, une composante électrophysiologique reflétant principalement des processus de rétroaction corticale a été obtenue lors d’une tâche de ségrégation des textures. Les résultats comportementaux obtenus à l’étude 1 révèlent des seuils sensoriels similaires entre les enfants typiques et autistes à l’égard des stimuli définis par des variations de luminance et de texture. Quant aux données électrophysiologiques, il n’y a pas de différence de groupe en ce qui concerne le traitement cérébral associé aux stimuli définis par des variations de luminance. Cependant, contrairement aux enfants typiques, les enfants autistes ne démontrent pas une augmentation systématique d’activité cérébrale en réponse aux stimuli définis par des variations de texture pendant les fenêtres temporelles préférentiellement associées au traitement de deuxième ordre. Ces différences d’activation émergent après 200 ms et engagent les aires visuelles extrastriées des régions occipito-temporales et pariétales. Concernant la connectivité cérébrale, l’étude 2 indique que les connexions visuelles descendantes sont fortement asymétriques chez les enfants autistes, en défaveur de la région occipito-temporale droite. Ceci diffère des enfants typiques pour qui le signal électrophysiologique reflétant l’intégration visuo-corticale est similaire entre l’hémisphère gauche et droit du cerveau. En somme, en accord avec l’hypothèse spécifique à la complexité, la représentation corticale du traitement de deuxième ordre (texture) est atypiquement diminuée chez les enfants autistes, et un des mécanismes cérébraux impliqués est une altération des processus de rétroaction visuelle entre les aires visuelles de haut et bas niveau. En revanche, contrairement aux résultats obtenus chez les adultes, il n’y a aucun indice qui laisse suggérer la présence de mécanismes supérieurs pour le traitement de premier ordre (luminance) chez les enfants autistes.

La représentation auditive motrice reflétée par la négativité de discordance chez l’enfant présentant un trouble du spectre de l’autisme

Il est maintenant bien établi que le cerveau humain est doté d’un système de neurones qui s’active tant à la perception qu’à l’exécution d’une action. Les neurones miroirs, ainsi que le système qu’ils forment avec des structures adjacentes appelées système neurones miroirs (SNM), ont été relié à la compréhension d’action et pourrait être impliqué dans les fonctions sociales de haut niveau tel que l’empathie et l’imitation. Dans la foulée spéculative reliant le SNM à la sphère sociale, le dysfonctionnement de ce système a rapidement gagné intérêt dans la genèse des anomalies du domaine social chez les personnes présentant le Trouble du spectre de l’autisme (TSA). Néanmoins, l’hypothèse voulant que le dysfonctionnement social des TSA repose sur une atteinte du SNM est controversée. En effet, les études soutenant cette hypothèse nécessitent des fonctions cognitives et sociales qui peuvent contribuer à l’obtention de résultats atypiques, telles que la compréhension des consignes, l’attention sur des stimuli sociaux ou la réalisation d’acte moteur. Récemment, un protocole auditif de négativité de discordance (MMN) utilisant des stimuli reliés à l’action humaine a été utilisé pour mesurer l’activité du SNM. Cette technique semble prometteuse dans la mesure où elle ne nécessite pas de capacités attentionnelles ou langagières, elle est brève et demande un montage minimal d’électrodes. Le premier article avait comme objectif principal de mesurer la validité de convergence du protocole MMN relié à l’action avec celui du rythme mu, le protocole le plus utilisé pour enregistrer l’activité miroir à l’aide de l’électroencéphalographie (EEG). Les modes de stimulation ont été délivrées en bloc successif à un groupe de 12 adultes en santé. Alors que les deux techniques ont modulé efficacement les régions fronto-centrales et centrales respectivement, mais ne sont pas corrélées, nous avons conclu qu’il est possible 2 qu’elles mesurent des aspects différents du SNM. Le deuxième article avait comme objectif principal de mesurer l’activité du SNM à l’aide du protocole MMN relié à l’action chez 10 enfants présentant un TSA ainsi que chez 12 enfants neurotypiques dans la même tranche d’âge (5-7ans). Chez les enfants TSA, nous avons montré un patron de latence inversée, comparativement aux enfants du groupe contrôle; ils traitaient plus rapidement les sons contrôles que les sons reliés à l’action humaine, alors que la tendance inverse était observée chez les contrôles. De plus, bien que les deux groupes différaient quant aux sons d’action, ils ne différaient pas quant aux sons contrôles. Quant à l’amplitude, les enfants TSA se distinguaient du groupe contrôle par une amplitude restreinte du son d’action provenant de la bouche. Par ailleurs, les mesures neurophysiologiques et neuropsychologiques n’étaient pas corrélées. En sommes, basé sur la prémisse que ce protocole MMN pourrait mesurer l’activité du SNM, cette thèse a comme but d’améliorer les connaissances quant à son utilisation chez l’adulte et l’enfant neurotypique ainsi que chez l’enfant TSA. Celui-ci pourrait ultimement être utilisé comme un biomarqueur potentiel du TSA.

Efectividad del tratamiento con neurofeedback en trastornos del estado del ánimo, ansiedad y fibromialgia: una revisión de literatura

El neurofeedback es una técnica no invasiva en la que se pretende corregir, mediante condicionamiento operante, ondas cerebrales que se encuentren alteradas en el electroencefalograma. Desde 1967, se han conducido numerosas investigaciones relacionadas con los efectos de la técnica en el tratamiento de alteraciones psicológicas. Sin embargo, a la fecha no existen revisiones sistemáticas que reúnan los temas que serán aquí tratados. El aporte de este trabajo es la revisión de 56 artículos, publicados entre los años 1995 y 2013 y la evaluación metodológica de 29 estudios incluidos en la revisión. La búsqueda fue acotada a la efectividad del neurofeedback en el tratamiento de depresión, ansiedad, trastorno obsesivo compulsivo (TOC), ira y fibromialgia. Los hallazgos demuestran que el neurofeedback ha tenido resultados positivos en el tratamiento de estos trastornos, sin embargo, es una técnica que aún está en desarrollo, con unas bases teóricas no muy bien establecidas y cuyos resultados necesitan de diseños metodológicamente más sólidos que ratifiquen su validez.

Eficacia y seguridad del aripiprazol en trastornos del espectro autista en población infanto-juvenil: revisión sistemática de la literatura

Aunque han pasado cinco años desde su aprobación en Estados Unidos para el manejo de los Trastornos del Espectro Autista (TEA), en Colombia el uso de aripiprazol para esta indicación continúa siendo off-label. En este contexto, se ha propuesto la ejecución de una revisión sistemática de la literatura con el fin de conocer la eficacia y seguridad de esta estrategia terapéutica a la luz de la evidencia disponible en el manejo de niños y adolescentes con TEA

Time-based prospective memory in children with autism spectrum disorder

In this study, for the first time, prospective memory was investigated in 11 school-aged children with autism spectrum disorders and 11 matched neurotypical controls. A computerised time-based prospective memory task was embedded in a visuospatial working memory test and required participants to remember to respond to certain target times. Controls had significantly more correct prospective memory responses than the autism spectrum group. Moreover, controls checked the time more often and increased time-monitoring more steeply as the target times approached. These differences in time-checking may suggest that prospective memory in autism spectrum disorders is affected by reduced self-initiated processing as indicated by reduced task monitoring.

Research review: reading comprehension in developmental disorders of language and communication

Background: Deficits in reading airment (SLI), Down syndrome (DS) and autism spectrum disorders (ASD). Methods: In this review (based on a search of the ISI Web of Knowledge database to 2011), the Simple View of Reading is used as a framework for considering reading comprehension in these groups. Conclusions: There is substantial evidence for reading comprehension impairments in SLI and growing evidence that weaknesses in this domain are common in DS and ASD. Further, in these groups reading comprehension is typically more impaired than word recognition. However, there is also evidence that some children and adolescents with DS, ASD and a history of SLI develop reading comprehension and word recognition skills at or above the age appropriate level. This review of the literature indicates that factors including word recognition, oral language, nonverbal ability and working memory may explain reading comprehension difficulties in SLI, DS and ASD. In addition, it highlights methodological issues, implications of poor reading comprehension and fruitful areas for future research.

Which words are hard for autistic children to learn?

Motivated by accounts of concept use in autistic spectrum disorder (ASD), and a computational model of weak central coherence (O’Loughlin & Thagard, 2000) we examined comprehension and production vocabulary in typically-developing children, and those with ASD and Down syndrome (DS). Controlling for frequency, familiarity, length, and imageability, Colorado Meaningfulness played a hitherto unremarked role in the vocabularies of children with ASD. High Colorado Meaningful words were underrepresented in the comprehension vocabularies of 2- to 12-year-olds with ASD. The Colorado Meaningfulness of a word is a measure of how many words can be associated with it. Situations in which high Colorado Meaningfulness words are encountered are typically highly variable, and words with High Colorado Meaningfulness often involve extensive use of context. Our data suggest that the number of contexts in which a particular word can appear has a role in determining vocabulary in ASD. This suggestion is consistent with the weak central coherence theory of autism.

The experience of friendship, victimization and bullying in children with an autism spectrum disorder: associations with child characteristics and school placement

Children with an autism spectrum disorder (ASD) may be vulnerable to social isolation and bullying. We measured the friendship, fighting/bullying and victimization experiences of 10–12-year-old children with an ASD (N = 100) using parent, teacher and child self-report. Parent and teacher reports were compared to an IQ-matched group of children with special educational needs (SEN) without ASD (N = 80) and UK population data. Parents and teachers reported a lower prevalence of friendships compared to population norms and to children with SEN without an ASD. Parents but not teachers reported higher levels of victimization than the SEN group. Half of the children with an ASD reported having friendships that involved mutuality. By teacher report children with an ASD who were less socially impaired in mainstream school experienced higher levels of victimization than more socially impaired children; whereas for more socially impaired children victimization did not vary by school placement. Strategies are required to support and improve the social interaction skills of children with an ASD, to enable them to develop and maintain meaningful peer friendships and avoid victimization.

The experience of the hidden curriculum for autistic girls at mainstream primary schools

This article presents the findings of ethnographic case studies of three girls on the autistic spectrum attending mainstream primary schools and illustrates the difficulties they experience and the ways in which these are often unrecognised. The observations of the girls and subsequent individual interviews with their mothers, class teachers, SENCO’s and ultimately themselves, reveal the personal adjustments the girls make in response to the hidden curriculum and the ways in which these go unnoticed, effectively masking their need for support, and contributing to their underachievement in school. The research also identifies a misunderstanding of autism in girls by some teachers that contributes to a lack of support for their needs, despite their diagnosis. Teachers need to understand how autistic girls present, and how they learn, if they are to recognise the need to illuminate the hidden curriculum. The implications of these findings are that without this awareness autistic girls in mainstream settings are also at risk of limited access to the known curriculum and of social isolation.

Exploring the multifactorial nature of autism through computational systems biology: Calcium and the Rho GTPase RAC1 under the spotlight

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication accompanied with repetitive behavioral patterns and unusual stereotyped interests. Autism is considered a highly heterogeneous disorder with diverse putative causes and associated factors giving rise to variable ranges of symptomatology. Incidence seems to be increasing with time, while the underlying pathophysiological mechanisms remain virtually uncharacterized (or unknown). By systematic review of the literature and a systems biology approach, our aims were to examine the multifactorial nature of autism with its broad range of severity, to ascertain the predominant biological processes, cellular components, and molecular functions integral to the disorder, and finally, to elucidate the most central contributions (genetic and/or environmental) in silico. With this goal, we developed an integrative network model for gene-environment interactions (GENVI model) where calcium (Ca2+) was shown to be its most relevant node. Moreover, considering the present data from our systems biology approach together with the results from the differential gene expression analysis of cerebellar samples from autistic patients, we believe that RAC1, in particular, and the RHO family of GTPases, in general, could play a critical role in the neuropathological events associated with autism. © 2013 Springer Science+Business Media New York.

Comunicação e transtornos do espectro do autismo: análise do conhecimento de professores em fases pré e pós-intervenção

Objetivo analisar o conhecimento de professores de ensino fundamental sobre a comunicação de pessoas com transtornos do espectro do autismo, em dois momentos distintos, pré e pós-intervenção. Métodos trata-se de um estudo descritivo comparativo, em que participaram 160 professores de escolas municipais de ensino fundamental, de ambos os gêneros, com idades entre 23 e 65 anos. Para verificar o conhecimento dos professores sobre a comunicação nos transtornos do espectro do autismo, foi elaborado e aplicado um questionário especificamente para este estudo. O instrumento, oferecido aos professores, foi aplicado em dois momentos distintos, pré e pós-intervenção. O procedimento de intervenção constou de dois encontros, de quatro horas cada, conduzidos por fonoaudiólogos e entrega de manual de orientação sobre os transtornos do espectro do autismo, com ênfase em aspectos da comunicação e linguagem. Foram analisadas e comparadas as respostas pré e pós-intervenção. Os resultados foram tratados estatisticamente (p<0,05 e em alguns casos p<0,01; foi utilizado o teste de Qui-quadrado para Proporções). Resultados foi possível observar que os professores apresentavam conhecimento restrito sobre a comunicação nos transtornos do espectro do autismo e sobre esses quadros clínicos de modo geral. Além disso, verificou-se aumento significante de respostas corretas por parte dos professores após a intervenção. Conclusão constatou-se um restrito conhecimento dos professores sobre a comunicação nos transtornos do espectro do autismo e efeitos positivos do procedimento de intervenção, por meio da análise comparativa entre as fases pré e pós-intervenção, que evidenciou aumento significante de respostas adequadas sobre os transtornos do espectro do autismo.