1. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Renshaw K, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman J, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Jr., Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. {{Individual common variants exert weak effects on risk for Autism Spectrum Disorders}}. {Hum Mol Genet};2012 (Jul 26)
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
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2. Bourret JC, Iwata BA, Harper JM, North ST. {{Elimination of position-biased responding in individuals with autism and intellectual disabilities}}. {J Appl Behav Anal};2012 (Summer);45(2):241-250.
Five individuals with autism or other developmental disabilities participated in paired-stimulus preference assessments during repeated baseline probes. All subjects initially showed a pronounced bias by typically selecting the stimulus placed in either the left or right position. Biased responding for 3 subjects was eliminated when training trials were conducted in which a stimulus of known lesser quality was presented as one of the choices. Reinforcer-quality training was unsuccessful for 2 subjects, as was a condition in which reinforcer magnitude was modified to favor unbiased responding. These subjects’ biased responding was eliminated only when a correction procedure (repetition of error trials) was implemented.
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3. Coghlan S, Horder J, Inkster B, Mendez MA, Murphy DG, Nutt DJ. {{GABA System Dysfunction in Autism and Related Disorders: From Synapse to Symptoms}}. {Neurosci Biobehav Rev};2012 (Jul 25)
Autism Spectrum Disorders (ASDs) are neurodevelopmental syndromes characterised by repetitive behaviours and restricted interests, impairments in social behavior and relations, and in language and communication. These symptoms are also observed in a number of developmental disorders of known origin, including Fragile X Syndrome, Rett syndrome, and Fetal Anticonvulsant Syndrome. While these conditions have diverse etiologies, and poorly understood pathologies, emerging evidence suggests that they may all be linked to dysfunction in particular aspects of GABAergic inhibitory signalling in the brain. We review evidence from genetics, molecular neurobiology and systems neuroscience relating to the role of GABA in these conditions. We conclude by discussing how these deficits may relate to the specific symptoms observed.
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4. Constantino JN, Charman T. {{Gender bias, female resilience, and the sex ratio in autism}}. {J Am Acad Child Adolesc Psychiatry};2012 (Aug);51(8):756-758.
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5. Dworzynski K, Ronald A, Bolton P, Happe F. {{How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?}}. {J Am Acad Child Adolesc Psychiatry};2012 (Aug);51(8):788-797.
OBJECTIVE: This study aimed to explore sex differences in autistic traits in relation to diagnosis, to elucidate factors that might differentially impact whether girls versus boys meet diagnostic criteria for autism or a related autism spectrum disorder (ASD). METHOD: Data from a large population-based sample of children were examined. Girls and boys (aged 10-12 years) meeting diagnostic criteria for an ASD were compared with those failing to meet diagnostic criteria despite very high scores on a trait measure of ASD, the Childhood Autism Spectrum Test (CAST). Information about behavioral difficulties as reported by teachers, and early estimates of intellectual functioning, were compared. RESULTS: Girls, but not boys, meeting diagnostic criteria for ASD showed significantly more additional problems (low intellectual level, behavioral difficulties) than peers with similarly high CAST scores who did not meet diagnostic criteria. CONCLUSIONS: These data suggest that, in the absence of additional intellectual or behavioral problems, girls are less likely than boys to meet diagnostic criteria for ASD at equivalently high levels of autistic-like traits. This might reflect gender bias in diagnosis or genuinely better adaptation/compensation in girls.
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6. Finn HE, Miguel CF, Ahearn WH. {{The emergence of untrained mands and tacts in children with autism}}. {J Appl Behav Anal};2012 (Summer);45(2):265-280.
Despite Skinner’s (1957) assertion that verbal operants are initially functionally independent, recent studies have suggested that in some cases the acquisition of one verbal operant (e.g., mand) gives rise to the other (e.g., tact) without explicit training. The present study aimed to evaluate the functional independence of mands and tacts during instruction with children with autism. Four boys with autism (3 to 6 years old) were taught to construct two 4-piece structures. Two participants were taught directly to mand, whereas the other 2 were taught to tact the names of the pieces. The effects of training were evaluated in a multiple probe design across verbal operants and tasks. Three of the 4 participants demonstrated an immediate transfer of control from 1 verbal operant to the other. These results were consistent with previous research with typically developing young children.
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7. Kataoka SH. {{Fixing a broken system: the story of autism, one state at a time}}. {J Am Acad Child Adolesc Psychiatry};2012 (Aug);51(8):759-761.
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8. Leaf JB, Oppenheim-Leaf ML, Call NA, Sheldon JB, Sherman JA, Taubman M, McEachin J, Dayharsh J, Leaf R. {{Comparing the teaching interaction procedure to social stories for people with autism}}. {J Appl Behav Anal};2012 (Summer);45(2):281-298.
This study compared social stories and the teaching interaction procedure to teach social skills to 6 children and adolescents with an autism spectrum disorder. Researchers taught 18 social skills with social stories and 18 social skills with the teaching interaction procedure within a parallel treatment design. The teaching interaction procedure resulted in mastery of all 18 skills across the 6 participants. Social stories, in the same amount of teaching sessions, resulted in mastery of 4 of the 18 social skills across the 6 participants. Participants also displayed more generalization of social skills taught with the teaching interaction procedure to known adults and peers.
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9. Madrigal I, Rodriguez-Revenga L, Xuncla M, Mila M. {{15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism}}. {Gene};2012 (Jul 25)
Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterization of a maternally inherited BP1-BP2 deletion in two siblings with intellectual, motor and speech delay, autistic syndrome disorder and several dysmorphic features. One of the patients was also a carrier of an FMR1 allele in the low premutation range. The four genes within the deletion were under-expressed in all deletion carriers but FMR1 mRNA levels remained normal. Our results suggest that BP1-BP2 deletion could be considered as a risk factor for neuropsychological phenotypes and that it presents with variable clinical expressivity.
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10. Paden AR, Kodak T, Fisher WW, Gawley-Bullington EM, Bouxsein KJ. {{Teaching children with autism to engage in peer-directed mands using a picture exchange communication system}}. {J Appl Behav Anal};2012 (Summer);45(2):425-429.
We evaluated differential reinforcement of alternative behavior (DRA) plus prompting to increase peer-directed mands for preferred items using a picture exchange communication system (PECS). Two nonvocal individuals with autism participated. Independent mands with a peer increased with the implementation of DRA plus prompting for both participants. In addition, peers engaged in brief social interactions following the majority of mands for leisure items. These results suggest that teaching children to use PECS with peers may be one way to increase manding and social interactions in individuals with limited or no vocal repertoire.
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11. Pollard JS, Betz AM, Higbee TS. {{Script fading to promote unscripted bids for joint attention in children with autism}}. {J Appl Behav Anal};2012 (Summer);45(2):387-393.
We used a script-fading procedure to teach 3 children with autism to initiate bids for joint attention. We examined the effects of (a) scripts, (b) varied adult scripted responses, and (c) multiple-exemplar script training on promoting unscripted language during bids for joint attention. All 3 participants learned to initiate bids for joint attention, and the response generalized to untrained stimuli, conversation partners, and the classroom environment.
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12. Ricketts J, Jones CR, Happe F, Charman T. {{Reading Comprehension in Autism Spectrum Disorders: The Role of Oral Language and Social Functioning}}. {J Autism Dev Disord};2012 (Jul 28)
Reading comprehension is an area of difficulty for many individuals with autism spectrum disorders (ASD). According to the Simple View of Reading, word recognition and oral language are both important determinants of reading comprehension ability. We provide a novel test of this model in 100 adolescents with ASD of varying intellectual ability. Further, we explore whether reading comprehension is additionally influenced by individual differences in social behaviour and social cognition in ASD. Adolescents with ASD aged 14-16 years completed assessments indexing word recognition, oral language, reading comprehension, social behaviour and social cognition. Regression analyses show that both word recognition and oral language explain unique variance in reading comprehension. Further, measures of social behaviour and social cognition predict reading comprehension after controlling for the variance explained by word recognition and oral language. This indicates that word recognition, oral language and social impairments may constrain reading comprehension in ASD.
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13. Russell G, Kelly SE, Ford T, Steer C. {{Diagnosis as a social determinant: The development of prosocial behaviour before and after an autism spectrum diagnosis}}. {Soc Sci Med};2012 (Jul 16)
Jutel and Nettleton (2011) discuss diagnosis as not only a major classification tool for medicine but also an interactive social process that itself may have ramifications for health. Consideration of diagnosis as a social determinant of health outcomes led to the formulation of our research question: Can we detect a change in the development of prosocial symptoms before and after an Autism Spectrum Disorder (ASD) diagnosis? We examined the developmental trajectory of prosocial skills of children, as impairment in social skills is given as a core symptom for children with ASD. We used a validated scale measuring prosocial behaviour for a sample of 57 children where the measure was repeatedly recorded over ten years. We plotted the developmental trajectory of the prosocial trait in this sample who were enrolled in a longitudinal birth cohort study based in South West England. Multi-factorial fixed effect modelling suggests that the developmental trajectory of this measure of behaviour was not significantly altered by ASD diagnosis, or the consequences of diagnosis, either for better or worse. Further analysis was conducted on a subset of 33 of the children who had both pre-diagnosis and post-diagnosis information, and the same result obtained. The results indicate that prosocial behaviours may be resistant to typical ‘treatments’: provision of educational and specialist health services triggered by a clinical ASD diagnosis. The implications of this for considering diagnosis as a social determinant are discussed.
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14. Stein BD, Sorbero MJ, Goswami U, Schuster J, Leslie DL. {{Impact of a private health insurance mandate on public sector autism service use in pennsylvania}}. {J Am Acad Child Adolesc Psychiatry};2012 (Aug);51(8):771-779.
OBJECTIVE: Many states have implemented regulations (commonly referred to as waivers) to increase access to publicly insured services for autism spectrum disorders (ASD). In recent years, several states have passed legislation requiring improved coverage for ASD services by private insurers. This study examines the impact of such legislation on use of Medicaid-funded ASD services. METHOD: We used Medicaid claims data from July 1, 2006, through June 30, 2010, to identify children with ASD and to assess their use of behavioral health services and psychotropic medications. Service and medication use were examined in four consecutive 12-month periods: the 2 years preceding passage of the legislation, the year after passage but before implementation, and the year after implementation. We examined differences in use of services and medications, and used growth rates from nonwaiver children to estimate the impact of the legislation on Medicaid spending for waiver-eligible children with ASD. RESULTS: The number of children with ASD receiving Medicaid services increased 20% from 2006-2007 to 2009-2010. The growth rate among children affected by the legislation was comparable to that of other groups before passage of the legislation but decreased after the legislation’s passage. We project that, without the legislation, growth in this population would have been 46% greater in 2009-2010 than observed, associated with spending of more than $8 million in 2009-2010. CONCLUSIONS: Passage of legislation increasing private insurance coverage of ASD services may decrease the number of families seeking eligibility to obtain Medicaid-funded services, with an associated substantial decrease in Medicaid expenditures.
