Adaptive and Maladaptive Correlates of Repetitive Behavior and Restricted Interests in Persons with Down Syndrome and Developmentally-Matched Typical Children: A Two-Year Longitudinal Sequential Design

We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: `` younger'' 2-4 years; `` older'' 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.

Sensory phenomena associated with repetitive behaviors in obsessive-compulsive disorder: An exploratory study of 1001 patients

A substantial number of patients with obsessive-compulsive disorder (OCD) report compulsions that are preceded not by obsessions but by subjective experiences known as sensory phenomena. This study aimed to investigate the frequency, severity, and age at onset of sensory phenomena in OCD, as well as to compare OCD patients with and without sensory phenomena in terms of clinical characteristics. We assessed 1,001 consecutive OCD patients, using instruments designed to evaluate the frequency/severity of OC symptoms, tics, anxiety, depression, level of insight and presence/severity of sensory phenomena. All together, 651 (65.0%) subjects reported at least one type of sensory phenomena preceding the repetitive behaviors. Considering the sensory phenomena subtypes, 371 (57.0%) patients had musculoskeletal sensations, 519 (79.7%) had externally triggered "just-right" perceptions, 176 (27.0%) presented internally triggered "just right," 144 (22.1%) had an "energy release," and 240 (36.9%) patients had an "urge only" phenomenon. Sensory phenomena were described as being as more severe than were obsessions by 102(15.7%) patients. Logistic regression analysis showed that the following characteristics were associated with the presence of sensory phenomena: higher frequency and greater severity of the symmetry/ordering/arranging and contamination/washing symptom dimensions; comorbid Tourette syndrome, and a family history of tic disorders. These data suggest that sensory phenomena constitute a poorly understood psychopathological aspect of OCD that merits further investigation. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

A Cross-Sectional Survey of Repetitive Behaviors and Restricted Interests in a Typically Developing Turkish Child Population

This study examined compulsive-like behaviors (CLBs) which are higher-order types of Repetitive Behaviors And Restricted Interests (RBRIs) in typically developing children in Turkey. Caregivers of 1,204 children between 8 and 72 months were interviewed with Childhood Routines Inventory (CRI) by trained interviewers in a cross-sectional survey. Factor analysis of the CRI revealed two factor structures comprising "just right behaviors" and "repetitive/sensory sensitivity behaviors". CLB frequency peaked at 2-4 years with declines after age four. In contrast to the previous CRI studies reporting no gender difference, CLBs were more common in males in 12-23 and 48-59 month age groups on both total CLB frequency and repetitive/sensory sensitivity behaviors. Also ages of onsets for CRI items were somewhat later than reported in other samples. Our findings supported the findings of the previous CRI studies while also revealing new perspectives in need of further investigation.

Predictive and distributed routing balancing (PR-DRB): high speed interconnection networks

Current parallel applications running on clusters require the use of an interconnection network to perform communications among all computing nodes available. Imbalance of communications can produce network congestion, reducing throughput and increasing latency, degrading the overall system performance. On the other hand, parallel applications running on these networks posses representative stages which allow their characterization, as well as repetitive behavior that can be identified on the basis of this characterization. This work presents the Predictive and Distributed Routing Balancing (PR-DRB), a new method developed to gradually control network congestion, based on paths expansion, traffic distribution and effective traffic load, in order to maintain low latency values. PR-DRB monitors messages latencies on intermediate routers, makes decisions about alternative paths and record communication pattern information encountered during congestion situation. Based on the concept of applications repetitiveness, best solution recorded are reapplied when saved communication pattern re-appears. Traffic congestion experiments were conducted in order to evaluate the performance of the method, and improvements were observed.

The compulsive-like aspect of the head dipping emission in rats with chronic electrolytic lesion in the area of the median raphe nucleus

Head dipping (HD) is a behavioral pattern considered to have a risk assessment or an exploratory role and is used as a complementary parameter to evaluate anxiety in experimental animals. Since rats with electrolytic lesion in the area of the median raphe nucleus displayed high frequencies of HD in a previous study, the present investigation was undertaken to confirm this observation and to determine its anxiety-related origin. HD episodes were counted in adult male Wistar rats (270-350 g) with electrolytic lesion (N = 11) and sham-lesioned controls (N = 12). When HD was measured for 60 min on an elevated open platform, lesioned rats emitted 13 times more HD than controls (264.7 ± 93.3 vs 20.3 ± 7.6 episodes), with the difference being statistically significant (P < 0.05). HD counts during 10-min sessions held 7, 14, 21, 27, and 63 days after lesion showed significantly higher means (range: 28.14 ± 5.38 to 62.85 ± 9.48) compared to sham-lesioned controls (range: 7.37 ± 1.13 to 8.5 ± 1.45). Normal rats stepped down into their home cages when the vertical distance between them and the cage was short (16 cm), and the step-down latencies increased with increasing depths (36.7 ± 7.92 to 185.87 ± 35.44 s). Lesioned rats showed a similar behavior when facing the shortest depth, but had a significantly increased number (23.28 ± 2.35 episodes) and latency (300 ± 0.00 s) of HD compared to normal rats (9.25 ± 1.37 episodes and 185.87 ± 35.44 s) when facing the greatest depth (30 cm). This suggests that HD may be a depth-measuring behavior related to risk assessment.

The compulsive-like aspect of the head dipping emission in rats with chronic electrolytic lesion in the area of the median raphe nucleus

Head dipping (HD) is a behavioral pattern considered to have a risk assessment or an exploratory role and is used as a complementary parameter to evaluate anxiety in experimental animals. Since rats with electrolytic lesion in the area of the median raphe nucleus displayed high frequencies of HD in a previous study, the present investigation was undertaken to confirm this observation and to determine its anxiety-related origin. HD episodes were counted in adult male Wistar rats (270-350 g) with electrolytic lesion (N = 11) and sham-lesioned controls (N = 12). When HD was measured for 60 min on an elevated open platform, lesioned rats emitted 13 times more HD than controls (264.7 ± 93.3 vs 20.3 ± 7.6 episodes), with the difference being statistically significant (P < 0.05). HD counts during 10-min sessions held 7, 14, 21, 27, and 63 days after lesion showed significantly higher means (range: 28.14 ± 5.38 to 62.85 ± 9.48) compared to sham-lesioned controls (range: 7.37 ± 1.13 to 8.5 ± 1.45). Normal rats stepped down into their home cages when the vertical distance between them and the cage was short (16 cm), and the step-down latencies increased with increasing depths (36.7 ± 7.92 to 185.87 ± 35.44 s). Lesioned rats showed a similar behavior when facing the shortest depth, but had a significantly increased number (23.28 ± 2.35 episodes) and latency (300 ± 0.00 s) of HD compared to normal rats (9.25 ± 1.37 episodes and 185.87 ± 35.44 s) when facing the greatest depth (30 cm). This suggests that HD may be a depth-measuring behavior related to risk assessment.

Trust, Competition and Cooperation in Autism Spectrum Disorder

Objective: Impaired social interactions and repetitive behavior are key features of autism spectrum disorder (ASD). In the present study we compared social decision-making in subjects with and without ASD. Subjects performed five social decision-making games in order to assess trust, fairness, cooperation & competition behavior and social value orientation. Methods: 19 adults with autism spectrum disorder and 17 controls, matched for age and education, participated in the study. Each subject performed five social decision-making tasks. In the trust game, subjects could maximize their gain by sharing some of their money with another person. In the punishment game, subjects played two versions of the Dictator’s Dilemma. In the dictator condition they could share an amount of 0-100 points with another person. In the punishment condition, the opponent was able to punish the subject if he/she was not satisfied with the amount of points received. In the cooperation game, subjects played with a small group of 3 people. Each of them could (anonymously) select an amount of 5, 7.5 or 10 Swiss francs. The goal of the game was to achieve a high group minimum. In the competition game, subjects performed a dexterity task. Before performing the task, they were asked whether they wanted to compete (winner takes it all) or cooperation (sharing the joint achieved amount of points) with a randomly selected person. Lastly, subjects performed a social value orientation task where they were playing for themselves and for another person. Results: There was no overall difference between healthy controls an ASD subjects in investment in the trust game. However, healthy controls increased their investment over number of trials whereas ASD subjects did not. A similar pattern was found for the punishment game. Furthermore, ASD subjects revealed a decreased investment in the dictator condition of the punishment game. There were no mean differences in competition behavior and social value orientation. Conclusions: The results provide evidence for differences between ASD subjects and healthy controls in social decision-making. Subjects with ASD showed a more consistent behavior than healthy controls in the trust game and the dictator dilemma. The present findings provide evidence for impaired social learning in ASD.

CHARACTERIZATION AND TREATMENT OF A NOVEL MOUSE MODEL OF TSC-ASSOCIATED AUTISM

Tuberous sclerosis complex (TSC) is a dominant tumor suppressor disorder caused by mutations in either TSC1 or TSC2. The proteins of these genes form a complex to inhibit the mammalian target of rapamycin complex 1 (mTORC1), which controls protein translation and cell growth. TSC causes substantial neuropathology, often leading to autism spectrum disorders (ASDs) in up to 60% of patients. The anatomic and neurophysiologic links between these two disorders are not well understood. However, both disorders share cerebellar abnormalities. Therefore, we have characterized a novel mouse model in which the Tsc2 gene was selectively deleted from cerebellar Purkinje cells (Tsc2f/-;Cre). These mice exhibit progressive Purkinje cell degeneration. Since loss of Purkinje cells is a well-reported postmortem finding in patients with ASD, we conducted a series of behavior tests to assess if Tsc2f/-;Cre mice displayed autistic-like deficits. Using the three chambered social choice assay, we found that Tsc2f/-;Cre mice showed behavioral deficits, exhibiting no preference between a stranger mouse and an inanimate object, or between a novel and a familiar mouse. Tsc2f/-;Cre mice also demonstrated increased repetitive behavior as assessed with marble burying activity. Altogether, these results demonstrate that loss of Tsc2 in Purkinje cells in a haploinsufficient background lead to behavioral deficits that are characteristic of human autism. Therefore, Purkinje cells loss and/or dysfunction may be an important link between TSC and ASD. Additionally, we have examined some of the cellular mechanisms resulting from mutations in Tsc2 leading to Purkinje cell death. Loss of Tsc2 led to upregulation of mTORC1 and increased cell size. As a consequence of increased protein synthesis, several cellular stress pathways were upregulated. Principally, these included altered calcium signaling, oxidative stress, and ER stress. Likely as a consequence of ER stress, there was also upregulation of ubiquitin and autophagy. Excitingly, treatment with an mTORC1 inhibitor, rapamycin attenuated mTORC1 activity and prevented Purkinje cell death by reducing of calcium signaling, the ER stress response, and ubiquitin. Remarkably, rapamycin treatment also reversed the social behavior deficits, thus providing a promising potential therapy for TSC-associated ASD.

Adults with autism spectrum disorders exhibit decreased sensitivity to reward parameters when making effort-based decisions.

BACKGROUND: Efficient effort expenditure to obtain rewards is critical for optimal goal-directed behavior and learning. Clinical observation suggests that individuals with autism spectrum disorders (ASD) may show dysregulated reward-based effort expenditure, but no behavioral study to date has assessed effort-based decision-making in ASD. METHODS: The current study compared a group of adults with ASD to a group of typically developing adults on the Effort Expenditure for Rewards Task (EEfRT), a behavioral measure of effort-based decision-making. In this task, participants were provided with the probability of receiving a monetary reward on a particular trial and asked to choose between either an "easy task" (less motoric effort) for a small, stable reward or a "hard task" (greater motoric effort) for a variable but consistently larger reward. RESULTS: Participants with ASD chose the hard task more frequently than did the control group, yet were less influenced by differences in reward value and probability than the control group. Additionally, effort-based decision-making was related to repetitive behavior symptoms across both groups. CONCLUSIONS: These results suggest that individuals with ASD may be more willing to expend effort to obtain a monetary reward regardless of the reward contingencies. More broadly, results suggest that behavioral choices may be less influenced by information about reward contingencies in individuals with ASD. This atypical pattern of effort-based decision-making may be relevant for understanding the heightened reward motivation for circumscribed interests in ASD.

PICTOAPRENDE: Design and evaluation of a tool that contributes to the personal autonomy of children and youth diagnosed with autism spectrum disorder in Ecuador

This paper presents the development and evaluation of PICTOAPRENDE, which is an interactive software designed to improve oral communication. Additionally, it contributes to the development of children and youth who are diagnosed with autism spectrum disorder (ASD) in Ecuador. To fulfill this purpose initially analyzes the intervention area where the general characteristics of people with ASD and their status in Ecuador is described. Statistical techniques used for this evaluation constitutes the basis of this study. A section that presents the development of research-based cognitive and social parameters of the area of intervention is also shown. Finally, the algorithms to obtain the measurements and experimental results along with the analysis of them are presented.

Maternal Copy Number Variants (CNV) transmission to their Autism Spectrum Disorder (ASD) sons correlates with phenotypic traits

Background: Common neurodevelopmental disorder, global prevalence ~1 %; Persistent deficits in social communication and social interaction; restricted and repetitive behavior, interests, or activities; Highly heterogeneous clinical presentation; Male to female ratio ~4:1.

Maternal CNV transmission to sons with autism correlates with phenotypic traits in the Broad Autism Phenotype

Autism Spectrum Disorder (ASD): Common neurodevelopmental disorder, global prevalence ~1 %; Persistent deficits in social communication and social interaction; restricted and repetitive behavior, interests, or activities – highly heterogeneous clinical presentation; Male to female ratio ~4:1.

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.

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.