1. Brunsdon VE, Happe F. {{Exploring the ‘fractionation’ of autism at the cognitive level}}. {Autism};2013 (Oct 14)
Autism spectrum disorders are defined by difficulties across a range of areas: social and communication difficulties and restricted and repetitive behaviours and interests. It has been suggested that this triad of symptoms cannot be explained by a single cause at the genetic, neural or cognitive level. This article reviews the evidence for a ‘fractionable’ autism triad at the cognitive level, highlighting questions for future research.
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2. Cleary L, Looney K, Brady N, Fitzgerald M. {{Inversion effects in the perception of the moving human form: A comparison of adolescents with autism spectrum disorder and typically developing adolescents}}. {Autism};2013 (Oct 14)
The « body inversion effect » refers to superior recognition of upright than inverted images of the human body and indicates typical configural processing. Previous research by Reed et al. using static images of the human body shows that people with autism fail to demonstrate this effect. Using a novel task in which adults, adolescents with autism, and typically developing adolescents judged whether walking stick figures-created from biological motion recordings and shown at seven orientations between 0 degrees and 180 degrees -were normal or distorted, this study shows clear effects of stimulus inversion. Reaction times and « inverse efficiency » increased with orientation for normal but not distorted walkers, and sensitivity declined with rotation from upright for all groups. Notably, the effect of stimulus inversion was equally detrimental to both groups of adolescents suggesting intact configural processing of the body in motion in autism spectrum disorder.
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3. Dammeyer J. {{Symptoms of Autism Among Children with Congenital Deafblindness}}. {J Autism Dev Disord};2013 (Oct 15)
Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism.
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4. Hall L, Kelley E. {{The contribution of epigenetics to understanding genetic factors in autism}}. {Autism};2013 (Oct 14)
Autism spectrum disorder is a grouping of neurodevelopmental disorders characterized by deficits in social communication and language, as well as by repetitive and stereotyped behaviors. While the environment is believed to play a role in the development of autism spectrum disorder, there is now strong evidence for a genetic link to autism. Despite such evidence, studies investigating a potential single-gene cause for autism, although insightful, have been highly inconclusive. A consideration of an epigenetic approach proves to be very promising in clarifying genetic factors involved in autism. The present article is intended to provide a review of key findings pertaining to epigenetics in autism in such a way that a broader audience of individuals who do not have a strong background in genetics may better understand this highly specific and scientific content. Epigenetics refers to non-permanent heritable changes that alter expression of genes without altering the DNA sequence itself and considers the role of environment in this modulation of gene expression. This review provides a brief description of epigenetic processes, highlights evidence in the literature of epigenetic dysregulation in autism, and makes use of noteworthy findings to illustrate how a consideration of epigenetic factors can deepen our understanding of the development of autism. Furthermore, this discussion will present a promising new way for moving forward in the investigation of genetic factors within autism.
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5. Kenny EM, Cormican P, Furlong S, Heron E, Kenny G, Fahey C, Kelleher E, Ennis S, Tropea D, Anney R, Corvin AP, Donohoe G, Gallagher L, Gill M, Morris DW. {{Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders}}. {Mol Psychiatry};2013 (Oct 15)
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and Neuroligin Interacting Proteins, (2) Post-synaptic Glutamate Receptor Complexes, (3) Neural Cell Adhesion Molecules, (4) DISC1 and Interactors and (5) Functional and Positional Candidates. Thirty-one novel loss-of-function (LoF) variants that are predicted to severely disrupt protein-coding sequence were detected among 2 861 rare variants. We found an excess of LoF variants in the combined cases compared with controls (P=0.02). This effect was stronger when analysis was limited to singleton LoF variants (P=0.0007) and the excess was present in both SZ (P=0.002) and ASD (P=0.001). As an individual gene category, Neurexin and Neuroligin Interacting Proteins carried an excess of LoF variants in cases compared with controls (P=0.05). A de novo nonsense variant in GRIN2B was identified in an ASD case adding to the growing evidence that this is an important risk gene for the disorder. These data support synapse formation and maintenance as key molecular mechanisms for SZ and ASD.Molecular Psychiatry advance online publication, 15 October 2013; doi:10.1038/mp.2013.127.
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6. Koegel LK, Park MN, Koegel RL. {{Using Self-Management to Improve the Reciprocal Social Conversation of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Oct 15)
Individuals with autism spectrum disorders often exhibit difficulties with reciprocal social conversation, engaging in limited verbal exchanges, even when language structures are intact. This study employed a multiple baseline design to examine the effectiveness of a self-management intervention targeting (1) on-topic responsiveness to a conversational partner; (2) expansion of the conversational topic; and (3) on-topic question asking. Results demonstrated improved reciprocal social conversation through elaborated responses and on-topic question asking, which generalized and maintained. Social validity measures by naive observers indicated that the intervention led to meaningful improvements during conversation, including interest, naturalness, and desirability as a conversational partner.
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7. Mavranezouli I, Megnin-Viggars O, Cheema N, Howlin P, Baron-Cohen S, Pilling S. {{The cost-effectiveness of supported employment for adults with autism in the United Kingdom}}. {Autism};2013 (Oct 14)
Adults with autism face high rates of unemployment. Supported employment enables individuals with autism to secure and maintain a paid job in a regular work environment. The objective of this study was to assess the cost-effectiveness of supported employment compared with standard care (day services) for adults with autism in the United Kingdom. Thus, a decision-analytic economic model was developed, which used outcome data from the only trial that has evaluated supported employment for adults with autism in the United Kingdom. The main analysis considered intervention costs, while cost-savings associated with changes in accommodation status and National Health Service and personal social service resource use were examined in secondary analyses. Two outcome measures were used: the number of weeks in employment and the quality-adjusted life year. Supported employment resulted in better outcomes compared with standard care, at an extra cost of pound18 per additional week in employment or pound5600 per quality-adjusted life year. In secondary analyses that incorporated potential cost-savings, supported employment dominated standard care (i.e. it produced better outcomes at a lower total cost). The analysis suggests that supported employment schemes for adults with autism in the United Kingdom are cost-effective compared with standard care. Further research needs to confirm these findings.
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8. Oberman LM, Rotenberg A, Pascual-Leone A. {{Use of Transcranial Magnetic Stimulation in Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Oct 15)
The clinical, social and financial burden of autism spectrum disorder (ASD) is staggering. We urgently need valid and reliable biomarkers for diagnosis and effective treatments targeting the often debilitating symptoms. Transcranial magnetic stimulation (TMS) is beginning to be used by a number of centers worldwide and may represent a novel technique with both diagnostic and therapeutic potential. Here we critically review the current scientific evidence for the use of TMS in ASD. Though preliminary data suggests promise, there is simply not enough evidence yet to conclusively support the clinical widespread use of TMS in ASD, neither diagnostically nor therapeutically. Carefully designed and properly controlled clinical trials are warranted to evaluate the true potential of TMS in ASD.
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9. Oner P, Oner O, Munir K. {{Three-item Direct Observation Screen (TIDOS) for autism spectrum disorder}}. {Autism};2013 (Oct 14)
We compared ratings on the Three-Item Direct Observation Screen test for autism spectrum disorders completed by pediatric residents with the Social Communication Questionnaire parent reports as an augmentative tool for improving autism spectrum disorder screening performance. We examined three groups of children (18-60 months) comparable in age (18-24 month, 24-36 month, 36-60 preschool subgroups) and gender distribution: n = 86 with Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) autism spectrum disorders; n = 76 with developmental delay without autism spectrum disorders; and n = 97 with typical development. The Three-Item Direct Observation Screen test included the following (a) Joint Attention, (b) Eye Contact, and (c) Responsiveness to Name. The parent Social Communication Questionnaire ratings had a sensitivity of .73 and specificity of .70 for diagnosis of autism spectrum disorders. The Three-Item Direct Observation Screen test item Joint Attention had a sensitivity of .82 and specificity of .90, Eye Contact had a sensitivity of .89 and specificity of .91, and Responsiveness to Name had a sensitivity of .67 and specificity of .87. In the Three-Item Direct Observation Screen test, having at least one of the three items positive had a sensitivity of .95 and specificity of .85. Age, diagnosis of autism spectrum disorder, and developmental level were important factors affecting sensitivity and specificity. The results indicate that augmentation of autism spectrum disorder screening by observational items completed by trained pediatric-oriented professionals can be a highly effective tool in improving screening performance. If supported by future population studies, the results suggest that primary care practitioners will be able to be trained to use this direct procedure to augment screening for autism spectrum disorders in the community.
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10. Stacy ME, Zablotsky B, Yarger HA, Zimmerman A, Makia B, Lee LC. {{Sex differences in co-occurring conditions of children with autism spectrum disorders}}. {Autism};2013 (Oct 14)
This study investigated differences in co-occurring diagnoses made in females compared to males with autism spectrum disorders in 913 children (746 males and 167 females) living in the United States with a current autism spectrum disorder diagnosis identified via caregiver-reported data from the National Survey of Children’s Health 2007. The results indicated that overall, females had significantly fewer reported autism spectrum disorder co-occurring conditions than males. Females, compared to males, with a current autism spectrum disorder diagnosis had lower rates of past learning disorder, current mild learning disorder, and past anxiety diagnoses. Females with a current autism spectrum disorder diagnosis were more likely than males to have been diagnosed with a speech problem in the past, while males with a current autism spectrum disorder diagnosis were more likely than females to have a current diagnosis of a mild learning disability and a past diagnosis of learning disability. In addition, males with a current autism spectrum disorder diagnosis were more likely than females to have two or more co-occurring diagnoses. These findings provide insight into trends in sex differences in autism spectrum disorder co-occurring conditions.
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11. Taylor B, Jick H, Maclaughlin D. {{Prevalence and incidence rates of autism in the UK: time trend from 2004-2010 in children aged 8 years}}. {BMJ Open};2013;3(10):e003219.
OBJECTIVES: To update UK studies begun in the early 1990s on the annual prevalence and incidence rates of autism in children; undertaken in response to a March 2012 press release, widely covered by the media, from the US Centre for Disease Control (CDC) reporting that the autism prevalence rate in 2008 in 8-year-old US children was 1 in 88, a 78% increase from a CDC estimate in 2004. This finding suggested a continuation of the dramatic increase in children diagnosed as autistic, which occurred in the 1990s. DESIGN: Population study using the UK General Practice Research Database (GPRD). METHODS: Annual autism prevalence rates were estimated for children aged 8 years in 2004-2010 by dividing the number diagnosed as autistic in each or any previous year by the number of children active in the study population that year. We also calculated annual incidence rates for children aged 2-8 years, by dividing the number newly diagnosed in 2004-2010 by the same denominators. RESULTS: Annual prevalence rates for each year were steady at approximately 3.8/1000 boys and 0.8/1000 girls. Annual incidence rates each year were also steady at about 1.2/1000 boys and 0.2/1000 girls. CONCLUSIONS: Following a fivefold increase in the annual incidence rates of autism during the 1990s in the UK, the incidence and prevalence rates in 8-year-old children reached a plateau in the early 2000s and remained steady through 2010. Whether prevalence rates have increased from the early 2000s in the USA remains uncertain.
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12. Yafai AF, Verrier D, Reidy L. {{Social conformity and autism spectrum disorder: A child-friendly take on a classic study}}. {Autism};2013 (Oct 14)
Perhaps surprisingly, given the importance of conformity as a theoretical construct in social psychology and the profound implications autism has for social function, little research has been done on whether autism is associated with the propensity to conform to a social majority. This study is a modern, child-friendly implementation of the classic Asch conformity studies. The performance of 15 children with autism was compared to that of 15 typically developing children on a line judgement task. Children were matched for age, gender and numeracy and literacy ability. In each trial, the child had to say which of three lines a comparison line matched in length. On some trials, children were misled as to what most people thought the answer was. Children with autism were much less likely to conform in the misleading condition than typically developing children. This finding was replicated using a continuous measure of autism traits, the Autism Quotient questionnaire, which showed that autism traits negatively correlated with likelihood to conform in the typically developing group. This study demonstrates the resistance of children with autism to social pressure.
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13. Yang Y, Vasylyev DV, Dib-Hajj F, Veeramah KR, Hammer MF, Dib-Hajj SD, Waxman SG. {{Multistate Structural Modeling and Voltage-Clamp Analysis of Epilepsy/Autism Mutation Kv10.2-R327H Demonstrate the Role of This Residue in Stabilizing the Channel Closed State}}. {J Neurosci};2013 (Oct 16);33(42):16586-16593.
Voltage-gated potassium channel Kv10.2 (KCNH5) is expressed in the nervous system, but its functions and involvement in human disease are poorly understood. We studied a human Kv10.2 channel mutation (R327H) recently identified in a child with epileptic encephalopathy and autistic features. Using multistate structural modeling, we demonstrate that the Arg327 residue in the S4 helix of voltage-sensing domain has strong ionic interactions with negatively charged residues within the S1-S3 helices in the resting (closed) and early-activation state but not in the late-activation and fully-activated (open) state. The R327H mutation weakens ionic interactions between residue 327 and these negatively charged residues, thus favoring channel opening. Voltage-clamp analysis showed a strong hyperpolarizing ( approximately 70 mV) shift of voltage dependence of activation and an acceleration of activation. Our results demonstrate the critical role of the Arg327 residue in stabilizing the channel closed state and explicate for the first time the structural and functional change of a Kv10.2 channel mutation associated with neurological disease.
