Pubmed du 27/03/15

Pubmed du jour

2015-03-27 12:03:50

1. Aagten-Murphy D, Attucci C, Daniel N, Klaric E, Burr D, Pellicano E. {{Numerical estimation in children with autism}}. {Autism Res};2015 (Mar 25)
Number skills are often reported anecdotally and in the mass media as a relative strength for individuals with autism, yet there are remarkably few research studies addressing this issue. This study, therefore, sought to examine autistic children’s number estimation skills and whether variation in these skills can explain at least in part strengths and weaknesses in children’s mathematical achievement. Thirty-two cognitively able children with autism (range = 8-13 years) and 32 typical children of similar age and ability were administered a standardized test of mathematical achievement and two estimation tasks, one psychophysical nonsymbolic estimation (numerosity discrimination) task and one symbolic estimation (numberline) task. Children with autism performed worse than typical children on the numerosity task, on the numberline task, which required mapping numerical values onto space, and on the test of mathematical achievement. These findings question the widespread belief that mathematical skills are generally enhanced in autism. For both groups of children, variation in performance on the numberline task was also uniquely related to their academic achievement, over and above variation in intellectual ability; better number-to-space mapping skills went hand-in-hand with better arithmetic skills. Future research should further determine the extent and underlying causes of some autistic children’s difficulties with regards to number. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.

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2. Alaerts K, Nayar K, Kelly C, Raithel J, Milham MP, Di Martino A. {{Age-Related Changes in Intrinsic Function of the Superior Temporal Sulcus in Autism Spectrum Disorders}}. {Soc Cogn Affect Neurosci};2015 (Mar 25)
Currently, the developmental trajectories of neural circuits implicated in autism spectrum disorders (ASD) are largely unknown. Here, we specifically focused on age-related changes in the functional circuitry of the posterior superior temporal sulcus (pSTS), a key hub underlying social-cognitive processes known to be impaired in ASD. Using a cross-sectional approach, we analyzed resting-state fMRI data collected from children, adolescents, and adults available through the Autism Brain Imaging Data Exchange repository (n=106 with ASD and n=109 typical controls [TC], ages 7-30 years). The observed age-related changes of pSTS intrinsic functional connectivity (iFC) suggest that no single developmental pattern characterizes ASD. Instead, pSTS circuitry displayed a complex developmental picture, with some functional circuits showing patterns consistent with atypical development in ASD relative to TC (pSTS-iFC with fusiform gyrus and angular gyrus) and others showing delayed maturation (pSTS-iFC with regions of the action perception network). Distinct developmental trajectories in different functional circuits in ASD likely reflect differential age-related changes in the socio-cognitive processes they underlie. Increasing insight on these mechanisms is a critical step in the development of age-specific interventions in ASD.

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3. Corcoran J, Berry A, Hill S. {{The lived experience of US parents of children with autism spectrum disorders: A systematic review and meta-synthesis}}. {J Intellect Disabil};2015 (Mar 27)
Current US statistics indicate that 1 in 68 children is diagnosed with an autistic spectrum disorder (Centers for Disease Control (2014) Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 Sites, United States, 2010. Morbidity and Mortality Weekly Report (MMWR)). The lived experience of parents with children diagnosed with autism spectrum disorder is important to know since quantitative studies have indicated that higher rates of mental disorders exist in this population as compared to parents of typically developing children (Yirmiya and Shaked (2005) Psychiatric disorders in parents of children with autism: a meta-analysis. Journal of Child Psychology and Psychiatry 46: 69-83). This study was a meta-synthesis of the qualitative literature in this area embedded within a systematic review. A comprehensive search and review yielded 14 studies. A total of six major themes were identified: (a) emotional stress and strain; (b) adaptation; (c) impact on the family; (d) services; (e) stigmatization; and (f) appreciating the little things. Implications of these results are discussed.

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4. Crane L, Chester JW, Goddard L, Henry LA, Hill E. {{Experiences of autism diagnosis: A survey of over 1000 parents in the United Kingdom}}. {Autism};2015 (Mar 25)
A sample of 1047 parents completed an online survey about their experiences and opinions regarding the process of attaining a diagnosis of autism spectrum disorder for their children. The results revealed that parents usually waited a year from when they first had concerns about their child’s development before they sought professional help. On average, there was a delay of around 3.5 years from the point at which parents first approached a health professional with their concerns to the confirmation of an autism spectrum disorder diagnosis. Just over half of the parents surveyed were dissatisfied with the diagnostic process as a whole. Several factors predicted parents’ overall levels of satisfaction with the diagnostic process, including the time taken to receive a diagnosis, satisfaction with the information provided at diagnosis, the manner of the diagnosing professional, the stress associated with the diagnostic process and satisfaction with post-diagnostic support. Post-diagnosis, the support (if any) that was provided to parents was deemed unsatisfactory, and this was highlighted as an area of particular concern among parents.

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5. DeMand A, Johnson C, Foldes E. {{Psychometric Properties of the Brief Autism Mealtime Behaviors Inventory}}. {J Autism Dev Disord};2015 (Mar 27)
The purpose of this study was to explore the psychometric properties of the Brief Autism Mealtime Behaviors Inventory (BAMBI). In a sample of 273 well-characterized children with ASD, we explored the factor structure of the BAMBI, determined the internal consistency of a newly derived factor structure and provide an empirically derived cut-off for the BAMBI total score. The new psychometrically identified structure consists of 4 factors: (1) Food Selectivity, (2) Disruptive Mealtime Behaviors, (3) Food Refusal and (4) Mealtime Rigidity. Internal consistency was acceptable. A cut off score of 34 is suggested based on our results. The new 15-item BAMB with an alternative 4-factor structure with clinical utility is promising in assessing feeding and mealtime problems in children with ASD.

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6. Devitt NM, Gallagher L, Reilly RB. {{Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography-What Can be Interpreted from the Available Information?}}. {Brain Sci};2015;5(2):92-117.

Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic risk factors and likely genetic and environmental interaction effects. A comparison of the phenotypic presentation of the two disorders may highlight those symptoms that are more likely to be under direct genetic control, for example in FXS as opposed to shared symptoms that are likely to be under the control of multiple mechanisms. This review is focused on the application and analysis of electroencephalography data (EEG) in ASD and FXS. Specifically, Event Related Potentials (ERP) and resting state studies (rEEG) studies investigating ASD and FXS cohorts are compared. This review explores the electrophysiological similarities and differences between the two disorders in addition to the potentially associated neurobiological mechanisms at play. A series of pertinent research questions which are suggested in the literature are also posed within the review.

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7. Dillenburger K, McKerr L, Jordan JA, Devine P, Keenan M. {{Creating an Inclusive Society… How Close are We in Relation to Autism Spectrum Disorder? A General Population Survey}}. {J Appl Res Intellect Disabil};2015 (Mar 25)
BACKGROUND: Children with autism spectrum disorder are increasingly educated in mainstream classrooms in the United Kingdom (Wilkinson & Twist, Autism and Educational Assessment: UK Policy and Practice. NFER, Slough, 2010), and some employers are now specifically seeking out staff on the autism spectrum. Does that mean that we are living in an ‘inclusive society’ [United Nations Department of Economic and Social Affairs (UNDESA), Creating an Inclusive Society: Practical Strategies to Promote Social Integration 2008], in the sense that inequalities are reduced and full economic, social and cultural participation is advanced for individuals with autism? METHODS: A general population survey was conducted to assess how close we, as a society, are to an inclusive society for individuals with autism in Northern Ireland. Public attitudes were examined to (i) visibility and social interaction, (ii) aetiology, needs and interventions, and (iii) rights and resources. RESULTS: A stratified, representative sample of 1204 adults took part in the survey; of these, 989 were aware of autism and their attitudes and behavioural projections reflected a mix of acceptance and denunciation. The level of confusion with regard to interventions reflected the general uncertainty within UK policy regarding meeting the needs of individuals on the autism spectrum (International Journal of Disability, Development and Education 61, 134, 2014a). CONCLUSION: Therefore, it seems that inclusion is working to an extent, but more clarity is needed with regard to adequate education, intervention and support for individuals with autism.

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8. Fein E. {{Making Meaningful Worlds: Role-Playing Subcultures and the Autism Spectrum}}. {Cult Med Psychiatry};2015 (Mar 27)
Every summer, a group of role-playing gamers gathers in an American town. Dressed up as moon goddesses, mad scientists, and other fantastical characters, they act out elaborate, improvised narratives of transformation, destruction, and redemption. For several summers, this group, who I call the Journeyfolk, ran a camp for teenagers on the autism spectrum, engaging campers in therapeutic reconfigurations of self and social role. Through this folk healing practice, the meaning of autism was itself transformed; what had been a source of isolation became a source of commonality and community. This paper takes the camp as a case study for examining the co-productive relationship between culture and neurodiversity. Cognitive tendencies often found in autism are often thought to preclude socio-cultural participation. However, such tendencies can also facilitate the co-creation of innovative cultural spaces, through processes of affinity and affiliation. Drawing on ethnographic fieldwork at the camp, I identify three sites of congruity between the culture of the camp and the cognitive and phenomenological experiences associated with autism, at which this « work of culture » (Obeysekere in The Work of Culture: Symbolic Transformation in Psychoanalysis and Anthropology, University of Chicago Press, Chicago, 1990) took place: the structure of social interactions within roleplaying games, the narratives enacted within these games, and the interpersonal relationships within which the games were embedded.

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9. Fiene L, Brownlow C. {{Investigating interoception and body awareness in adults with and without autism spectrum disorder}}. {Autism Res};2015 (Mar 25)
This study aimed to investigate the current gap in the literature with regard to how adults with and without Autism Spectrum Disorder (ASD) interpret elements of the interoceptive sense, which includes thirst, hunger, temperature, satiety, and the prediction of onset of illness. Adults with a diagnosed ASD (n = 74; 36 males, 38 females) were compared to a control group (n = 228; 53 males, 174 females, 1 unspecified) in their self-reported perceptions of body awareness utilizing the Body Awareness Questionnaire (BAQ) and thirst awareness using the Thirst Awareness Scale (TAS). Those in the ASD group reported a clinically significant lower body and thirst awareness compared to the control group, and this was a large effect (BAQ; d = -1.26, P < 0.001; TAS; d = -1.02, P < 0.001). These findings are of clinical importance, as difficulty with sensing internal bodily states could theoretically impact on the physical and mental health, social interactions and self-awareness of adults with ASD. Autism Res 2014. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.

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10. Grice SJ, Liu JL, Webber C. {{Synergistic Interactions between Drosophila Orthologues of Genes Spanned by De Novo Human CNVs Support Multiple-Hit Models of Autism}}. {PLoS Genet};2015 (Feb);11(3):e1004998.

Autism spectrum disorders (ASDs) are highly heritable and characterised by deficits in social interaction and communication, as well as restricted and repetitive behaviours. Although a number of highly penetrant ASD gene variants have been identified, there is growing evidence to support a causal role for combinatorial effects arising from the contributions of multiple loci. By examining synaptic and circadian neurological phenotypes resulting from the dosage variants of unique human:fly orthologues in Drosophila, we observe numerous synergistic interactions between pairs of informatically-identified candidate genes whose orthologues are jointly affected by large de novo copy number variants (CNVs). These CNVs were found in the genomes of individuals with autism, including a patient carrying a 22q11.2 deletion. We first demonstrate that dosage alterations of the unique Drosophila orthologues of candidate genes from de novo CNVs that harbour only a single candidate gene display neurological defects similar to those previously reported in Drosophila models of ASD-associated variants. We then considered pairwise dosage changes within the set of orthologues of candidate genes that were affected by the same single human de novo CNV. For three of four CNVs with complete orthologous relationships, we observed significant synergistic effects following the simultaneous dosage change of gene pairs drawn from a single CNV. The phenotypic variation observed at the Drosophila synapse that results from these interacting genetic variants supports a concordant phenotypic outcome across all interacting gene pairs following the direction of human gene copy number change. We observe both specificity and transitivity between interactors, both within and between CNV candidate gene sets, supporting shared and distinct genetic aetiologies. We then show that different interactions affect divergent synaptic processes, demonstrating distinct molecular aetiologies. Our study illustrates mechanisms through which synergistic effects resulting from large structural variation can contribute to human disease.

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11. Keehn B, Vogel-Farley V, Tager-Flusberg H, Nelson CA. {{Atypical Hemispheric Specialization for Faces in Infants at Risk for Autism Spectrum Disorder}}. {Autism Res};2015 (Mar 25)
Among the many experimental findings that tend to distinguish those with and without autism spectrum disorder (ASD) are face processing deficits, reduced hemispheric specialization, and atypical neurostructural and functional connectivity. To investigate the earliest manifestations of these features, we examined lateralization of event-related gamma-band coherence to faces during the first year of life in infants at high risk for autism (HRA; defined as having an older sibling with ASD) who were compared with low-risk comparison (LRC) infants, defined as having no family history of ASD. Participants included 49 HRA and 46 LRC infants who contributed a total of 127 data sets at 6 and 12 months. Electroencephalography was recorded while infants viewed images of familiar/unfamiliar faces. Event-related gamma-band (30-50 Hz) phase coherence between anterior-posterior electrode pairs for left and right hemispheres was computed. Developmental trajectories for lateralization of intra-hemispheric coherence were significantly different in HRA and LRC infants: by 12 months, HRA infants showed significantly greater leftward lateralization compared with LRC infants who showed rightward lateralization. Preliminary results indicate that infants who later met criteria for ASD were those that showed the greatest leftward lateralization. HRA infants demonstrate an aberrant pattern of leftward lateralization of intra-hemispheric coherence by the end of the first year of life, suggesting that the network specialized for face processing may develop atypically. Further, infants with the greatest leftward asymmetry at 12 months where those that later met criteria for ASD, providing support to the growing body of evidence that atypical hemispheric specialization may be an early neurobiological marker for ASD. Autism Res 2015, : -. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.

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12. Kriete T, Noelle DC. {{Dopamine and the development of executive dysfunction in autism spectrum disorders}}. {PLoS One};2015;10(3):e0121605.

Persons with autism regularly exhibit executive dysfunction (ED), including problems with deliberate goal-directed behavior, planning, and flexible responding in changing environments. Indeed, this array of deficits is sufficiently prominent to have prompted a theory that executive dysfunction is at the heart of these disorders. A more detailed examination of these behaviors reveals, however, that some aspects of executive function remain developmentaly appropriate. In particular, while people with autism often have difficulty with tasks requiring cognitive flexibility, their fundamental cognitive control capabilities, such as those involved in inhibiting an inappropriate but relatively automatic response, show no significant impairment on many tasks. In this article, an existing computational model of the prefrontal cortex and its role in executive control is shown to explain this dichotomous pattern of behavior by positing abnormalities in the dopamine-based modulation of frontal systems in individuals with autism. This model offers excellent qualitative and quantitative fits to performance on standard tests of cognitive control and cognitive flexibility in this clinical population. By simulating the development of the prefrontal cortex, the computational model also offers a potential explanation for an observed lack of executive dysfunction early in life.

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13. Levin AR, Nelson CA. {{Inhibition-Based Biomarkers for Autism Spectrum Disorder}}. {Neurotherapeutics};2015 (Mar 27)
Autism spectrum disorder (ASD) is a behaviorally defined and heterogeneous disorder. Biomarkers for ASD offer the opportunity to improve prediction, diagnosis, stratification by severity and subtype, monitoring over time and in response to interventions, and overall understanding of the underlying biology of this disorder. A variety of potential biomarkers, from the level of genes and proteins to network-level interactions, is currently being examined. Many of these biomarkers relate to inhibition, which is of particular interest because in many cases ASD is thought to be a disorder of imbalance between excitation and inhibition. Abnormalities in inhibition at the cellular level lead to emergent properties in networks of neurons. These properties take into account a more complete genetic and cellular background than findings at the level of individual genes or cells, and are able to be measured in live humans, offering additional potential as diagnostic biomarkers and predictors of behaviors. In this review we provide examples of how altered inhibition may inform the search for ASD biomarkers at multiple levels, from genes to cells to networks.

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14. Srinivasjois R, Rao S, Patole S. {{Probiotic supplementation in children with autism spectrum disorder}}. {Arch Dis Child};2015 (Mar 25)

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15. Williams AC. {{Autoextraction of twelve permanent teeth in a child with autistic spectrum disorder}}. {Int J Paediatr Dent};2015 (Mar 25)
BACKGROUND: This report discusses self-injurious behaviour; this is not unusual in people with autistic spectrum disorders but is not commonly experienced as autoextraction. CASE REPORT: This case concerns a 12 year old child who presented as a new patient with two teeth missing. He then went on to remove a further ten teeth over a relatively short space of time. CONCLUSION: The recognition of autoextraction by the dental team is important. its management involves a multidisciplinary team which includes professionals from education, health and social care who work together to prevent progressive self-injury.

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16. Yang H, Huh SO, Hong JS. {{Enhancement of Short-Term Memory by Methyl-6-(Phenylethynyl)-Pyridine in the BTBR T+tf/J Mouse Model of Autism Spectrum Disorder}}. {Endocrinol Metab (Seoul)};2015 (Mar 27);30(1):98-104.

BACKGROUND: Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. This study evaluated the effect of methyl-6-(phenylethynyl)-pyridine (MPEP), an antagonist of the mGluR5 metabotropic glutamate receptor, on memory enhancement in the BTBR T+tf/J (BTBR) mouse strain, which has been recognized as a model of ASD. METHODS: The pharmacological effects of MPEP on memory and motor coordination were assessed using the Morris water maze and rotarod tests in BTBR and C57BL/6J (B6) mice. Furthermore, we performed morphological analyses of cerebellar foliation in BTBR and B6 mice using hematoxylin and eosin staining. RESULTS: MPEP-treated BTBR mice exhibited improved learning and memory in the Morris water maze test. MPEP administration also improved motor coordination in the rotarod test. However, no significant difference was observed regarding the numbers of Purkinje cells in the cerebella of BTBR versus normal B6 mice. CONCLUSION: This study suggests that the mGluR5 antagonist MPEP has the potential to ameliorate learning and memory dysfunction and impaired motor coordination in BTBR mice. These results further suggest that the BTBR mouse model may be useful in pharmacological studies investigating drugs that could potentially alleviate cognitive dysfunction in ASD.

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