1. Anderson GM. {{Autism Biomarkers: Challenges, Pitfalls and Possibilities}}. {J Autism Dev Disord}. 2014 Sep 6.
Network perspectives, in their emphasis on components and their interactions, might afford the best approach to the complexities of the ASD realm. Categorical approaches are unlikely to be fruitful as one should not expect to find a single or even predominant underlying cause of autism behavior across individuals. It is possible that the complex, highly interactive, heterogeneous and individualistic nature of the autism realm is intractable in terms of identifying clinically useful biomarker tests. It is hopeful from an emergenic perspective that small corrective changes in a single component of a deleterious network/configuration might have large beneficial consequences on developmental trajectories and in later treatment. It is suggested that the relationship between ASD and intellectual disability might be fundamentally different in single-gene versus nonsyndromic ASD. It is strongly stated that available biomarker « tests » for autism/ASD will do more harm than good. Finally, the serotonin-melatonin-oxidative stress-placental intersection might be an especially fruitful area of biological investigation.
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2. Bowling H, Klann E. {{Shaping Dendritic Spines in Autism Spectrum Disorder: mTORC1-Dependent Macroautophagy}}. {Neuron}. 2014 Sep 3;83(5):994-6.
In this issue of Neuron, Tang et al. (2014) explore the relationship between developmental dendritic pruning, elevated mTORC1 signaling, macroautophagy, and autism spectrum disorder. The study provides valuable new insight into mTORC1-dependent cellular dysfunction and neurodevelopmental disorders.
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3. Horlin C, Falkmer M, Parsons R, Albrecht MA, Falkmer T. {{The cost of autism spectrum disorders}}. {PloS one}. 2014;9(9):e106552.
OBJECTIVE: A diagnosis of an autism spectrum disorders is usually associated with substantial lifetime costs to an individual, their family and the community. However, there remains an elusive factor in any cost-benefit analysis of ASD diagnosis, namely the cost of not obtaining a diagnosis. Given the infeasibility of estimating the costs of a population that, by its nature, is inaccessible, the current study compares expenses between families whose children received a formal ASD diagnosis immediately upon suspecting developmental atypicality and seeking advice, with families that experienced a delay between first suspicion and formal diagnosis. DESIGN: A register based questionnaire study covering all families with a child with ASD in Western Australia. PARTICIPANTS: Families with one or more children diagnosed with an ASD, totalling 521 children diagnosed with an ASD; 317 records were able to be included in the final analysis. RESULTS: The median family cost of ASD was estimated to be AUD $34,900 per annum with almost 90% of the sum ($29,200) due to loss of income from employment. For each additional symptom reported, approximately $1,400 cost for the family per annum was added. While there was little direct influence on costs associated with a delay in the diagnosis, the delay was associated with a modest increase in the number of ASD symptoms, indirectly impacting the cost of ASD. CONCLUSIONS: A delay in diagnosis was associated with an indirect increased financial burden to families. Early and appropriate access to early intervention is known to improve a child’s long-term outcomes and reduce lifetime costs to the individual, family and society. Consequently, a per symptom dollar value may assist in allocation of individualised funding amounts for interventions rather than a nominal amount allocated to all children below a certain age, regardless of symptom presentation, as is the case in Western Australia.
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4. Howard JS, Stanislaw H, Green G, Sparkman CR, Cohen HG. {{Comparison of behavior analytic and eclectic early interventions for young children with autism after three years}}. {Research in developmental disabilities}. 2014 Sep 1;35(12):3326-44.
In a previous study, we compared the effects of just over one year of intensive behavior analytic intervention (IBT) provided to 29 young children diagnosed with autism with two eclectic (i.e., mixed-method) interventions (Howard, Sparkman, Cohen, Green, & Stanislaw, 2005). One eclectic intervention (autism programming; AP) was designed specifically for children with autism and was intensive in that it was delivered for an average of 25-30h per week (n=16). The other eclectic intervention (generic programming; GP) was delivered to 16 children with a variety of diagnoses and needs for an average of 15-17h per week. This paper reports outcomes for children in all three groups after two additional years of intervention. With few exceptions, the benefits of IBT documented in our first study were sustained throughout Years 2 and 3. At their final assessment, children who received IBT were more than twice as likely to score in the normal range on measures of cognitive, language, and adaptive functioning than were children who received either form of eclectic intervention. Significantly more children in the IBT group than in the other two groups had IQ, language, and adaptive behavior test scores that increased by at least one standard deviation from intake to final assessment. Although the largest improvements for children in the IBT group generally occurred during Year 1, many children in that group whose scores were below the normal range after the first year of intervention attained scores in the normal range of functioning with one or two years of additional intervention. In contrast, children in the two eclectic treatment groups were unlikely to attain scores in the normal range after the first year of intervention, and many of those who had scores in the normal range in the first year fell out of the normal range in subsequent years. There were no consistent differences in outcomes at Years 2 and 3 between the two groups who received eclectic interventions. These results provide further evidence that intensive behavior analytic intervention delivered at an early age is more likely to produce substantial improvements in young children with autism than common eclectic interventions, even when the latter are intensive.
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5. Howlin P, Moss P, Savage S, Bolton P, Rutter M. {{Outcomes in Adult Life Among Siblings of Individuals with Autism}}. {J Autism Dev Disord}. 2014 Sep 5.
Little is known about adult siblings of individuals with autism. We report on cognitive, social and mental health outcomes in 87 adult siblings (mean age 39 years). When younger all had been assessed either as being « unaffected » by autism (n = 69) or as meeting criteria for the « Broader Autism Phenotype » (BAP, n = 18). As adults, all scored within the average range on tests of intelligence, numeracy and literacy. « Unaffected » siblings were functioning well in terms of jobs, independence and social relationships. Levels of social relationships and employment were significantly lower in the BAP group; autism traits and mental health problems were significantly higher. The data suggest that the « broader autism phenotype » is a meaningful concept but more sensitive diagnostic measures are required.
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6. Karst JS, Van Hecke AV, Carson AM, Stevens S, Schohl K, Dolan B. {{Parent and Family Outcomes of PEERS: A Social Skills Intervention for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014 Sep 6.
Raising a child with an Autism Spectrum Disorder (ASD) is associated with increased family chaos and parent distress. Successful long-term treatment outcomes are dependent on healthy systemic functioning, but the family impact of treatment is rarely evaluated. The Program for the Education and Enrichment of Relational Skills (PEERS) is a social skills intervention designed for adolescents with high-functioning ASD. This study assessed the impact of PEERS on family chaos, parenting stress, and parenting self-efficacy via a randomized, controlled trial. Results suggested beneficial effects for the experimental group in the domain of family chaos compared to the waitlist control, while parents in the PEERS experimental group also demonstrated increased parenting self-efficacy. These findings highlight adjunctive family system benefits of PEERS intervention and suggest the need for overall better understanding of parent and family outcomes of ASD interventions.
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7. Kohls G, Thonessen H, Bartley GK, Grossheinrich N, Fink GR, Herpertz-Dahlmann B, Konrad K. {{Differentiating neural reward responsiveness in autism versus ADHD}}. {Developmental cognitive neuroscience}. 2014 Aug 17;10C:104-16.
Although attention deficit hyperactivity disorders (ADHD) and autism spectrum disorders (ASD) share certain neurocognitive characteristics, it has been hypothesized to differentiate the two disorders based on their brain’s reward responsiveness to either social or monetary reward. Thus, the present fMRI study investigated neural activation in response to both reward types in age and IQ-matched boys with ADHD versus ASD relative to typically controls (TDC). A significant group by reward type interaction effect emerged in the ventral striatum with greater activation to monetary versus social reward only in TDC, whereas subjects with ADHD responded equally strong to both reward types, and subjects with ASD showed low striatal reactivity across both reward conditions. Moreover, disorder-specific neural abnormalities were revealed, including medial prefrontal hyperactivation in response to social reward in ADHD versus ventral striatal hypoactivation in response to monetary reward in ASD. Shared dysfunction was characterized by fronto-striato-parietal hypoactivation in both clinical groups when money was at stake. Interestingly, lower neural activation within parietal circuitry was associated with higher autistic traits across the entire study sample. In sum, the present findings concur with the assumption that both ASD and ADHD display distinct and shared neural dysfunction in response to reward.
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8. Krawczyk DC, Kandalaft MR, Didehbani N, Allen TT, McClelland MM, Tamminga CA, Chapman SB. {{An investigation of reasoning by analogy in schizophrenia and autism spectrum disorder}}. {Frontiers in human neuroscience}. 2014;8:517.
Relational reasoning ability relies upon by both cognitive and social factors. We compared analogical reasoning performance in healthy controls (HC) to performance in individuals with Autism Spectrum Disorder (ASD), and individuals with schizophrenia (SZ). The experimental task required participants to find correspondences between drawings of scenes. Participants were asked to infer which item within one scene best matched a relational item within the second scene. We varied relational complexity, presence of distraction, and type of objects in the analogies (living or non-living items). We hypothesized that the cognitive differences present in SZ would reduce relational inferences relative to ASD and HC. We also hypothesized that both SZ and ASD would show lower performance on living item problems relative to HC due to lower social function scores. Overall accuracy was higher for HC relative to SZ, consistent with prior research. Across groups, higher relational complexity reduced analogical responding, as did the presence of non-living items. Separate group analyses revealed that the ASD group was less accurate at making relational inferences in problems that involved mainly non-living items and when distractors were present. The SZ group showed differences in problem type similar to the ASD group. Additionally, we found significant correlations between social cognitive ability and analogical reasoning, particularly for the SZ group. These results indicate that differences in cognitive and social abilities impact the ability to infer analogical correspondences along with numbers of relational elements and types of objects present in the problems.
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9. Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata KI. {{Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders}}. {Journal of neurochemistry}. 2014 Sep 6.
Using comparative genomic hybridization (CGH) analysis for an autism spectrum disorder (ASD) patient, a 73 Kb duplication at 19q13.33 (nt. 49 562 755-49 635 956) including LIN7B and 5 other genes was detected. We then identified a novel frameshift mutation in LIN7B in another ASD patient. Since LIN7B encodes a scaffold protein essential for neuronal function, we analyzed the role of Lin-7B in the development of cerebral cortex. Acute knockdown of Lin-7B with in utero electroporation caused a delay in neuronal migration during corticogenesis. When Lin-7B was knocked down in cortical neurons in one hemisphere, their axons failed to extend efficiently into the contralateral hemisphere after leaving the corpus callosum. Meanwhile, enhanced expression of Lin-7B had no effects on both cortical neuron migration and axon growth. Notably, silencing of Lin-7B did not affect the proliferation of neuronal progenitors and stem cells. Taken together, Lin-7B was found to play a pivotal role in corticogenesis through the regulation of excitatory neuron migration and interhemispheric axon growth, while further analyses are required to directly link functional defects of Lin-7B to ASD pathophysiology. This article is protected by copyright. All rights reserved.
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10. Neumeyer AM, O’Rourke JA, Massa A, Lee H, Lawson EA, McDougle CJ, Misra M. {{Brief Report: Bone Fractures in Children and Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Sep 6.
Peripubertal boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. However, it is not clear whether lower BMD in ASD results in an increased fracture rate. This study examined the rate of fractures in children and adults with and without ASD using a national database of emergency room visits (Nationwide Emergency Department Sample). A higher odds ratio for hip fractures in children and young adults (3-22 years) as well as older adults (23-50 years) with ASD than those without ASD, and a higher odds ratio for forearm and spine fractures in women ages 23-50 with ASD were found. Further studies are necessary to better understand the decreased bone density in ASD and its implications for fracture development.
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11. Nevison CD. {{A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors}}. {Environmental health : a global access science source}. 2014 Sep 5;13(1):73.
BACKGROUND: The prevalence of diagnosed autism has increased rapidly over the last several decades among U.S. children. Environmental factors are thought to be driving this increase and a list of the top ten suspected environmental toxins was published recently. METHODS: Temporal trends in autism for birth years 1970-2005 were derived from a combination of data from the California Department of Developmental Services (CDDS) and the United States Individuals with Disabilities Education Act (IDEA). Temporal trends in suspected toxins were derived from data compiled during an extensive literature survey. Toxin and autism trends were compared by visual inspection and computed correlation coefficients. Using IDEA data, autism prevalence vs. birth year trends were calculated independently from snapshots of data from the most recent annual report, and by tracking prevalence at a constant age over many years of reports. The ratio of the snapshot:tracking trend slopes was used to estimate the « real » fraction of the increase in autism. RESULTS: The CDDS and IDEA data sets are qualitatively consistent in suggesting a strong increase in autism prevalence over recent decades. The quantitative comparison of IDEA snapshot and constant-age tracking trend slopes suggests that ~75-80% of the tracked increase in autism since 1988 is due to an actual increase in the disorder rather than to changing diagnostic criteria. Most of the suspected environmental toxins examined have flat or decreasing temporal trends that correlate poorly to the rise in autism. Some, including lead, organochlorine pesticides and vehicular emissions, have strongly decreasing trends. Among the suspected toxins surveyed, polybrominated diphenyl ethers, aluminum adjuvants, and the herbicide glyphosate have increasing trends that correlate positively to the rise in autism. CONCLUSIONS: Diagnosed autism prevalence has risen dramatically in the U.S over the last several decades and continued to trend upward as of birth year 2005. The increase is mainly real and has occurred mostly since the late 1980s. In contrast, children’s exposure to most of the top ten toxic compounds has remained flat or decreased over this same time frame. Environmental factors with increasing temporal trends can help suggest hypotheses for drivers of autism that merit further investigation.
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12. Reinhardt VP, Wetherby AM, Schatschneider C, Lord C. {{Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development}}. {J Autism Dev Disord}. 2014 Sep 5.
Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with typical development. Sex differences in adaptive behavior and autism symptoms were also examined in children with ASD. Participants (n = 511) were recruited from the Florida State University FIRST WORDS(R) Project and University of Michigan Autism and Communication Disorders Center. Analyses did not reveal significant effects of sex or a diagnostic group by sex interaction, suggesting a similar phenotype in males and females early in development. Further research is needed to examine sex differences across development.
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13. Takeuchi H, Taki Y, Sekiguchi A, Nouchi R, Kotozaki Y, Nakagawa S, Miyauchi CM, Iizuka K, Yokoyama R, Shinada T, Yamamoto Y, Hanawa S, Araki T, Hashizume H. {{Creativity measured by divergent thinking is associated with two axes of autistic characteristics}}. {Frontiers in psychology}. 2014;5:921.
Creativity generally involves the conception of original and valuable ideas, and it plays a key role in scientific achievement. Moreover, individuals with autistic spectrum conditions (ASCs) tend to achieve in scientific fields. Recently, it has been proposed that low empathizing and high systemizing characterize individuals with ASCs. Empathizing is the drive to identify the mental status of other individuals and respond to it with an appropriate emotion; systemizing is the drive to analyze a system. It has been proposed that this higher systemizing underlies the scientific achievement of individuals with ASCs, suggesting the possible positive association between creativity and systemizing. However, previous findings on the association between ASCs and creativity were conflicting. Conversely, previous studies have suggested an association between prosocial traits and creativity, indicating the possible association between empathizing and creativity. Here we investigated the association between creativity measured by divergent thinking (CDT) and empathizing, systemizing, and the discrepancy between systemizing and empathizing, which is called D score. CDT was measured using the S-A creativity test. The individual degree of empathizing (empathizing quotient, EQ) and that of systemizing (systemizing quotient, SQ), and D score was measured via a validated questionnaire (SQ and EQ questionnaires). The results showed that higher CDT was significantly and positively correlated with both the score of EQ and the score of SQ but not with D score. These results suggest that CDT is positively associated with one of the characteristics of ASCs (analytical aspects), while exhibiting a negative association with another (lower social aspects). Therefore, the discrepancy between systemizing and empathizing, which is strongly associated with autistic tendency, was not associated with CDT.
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14. Wink LK, O’Melia AM, Shaffer RC, Pedapati E, Friedmann K, Schaefer T, Erickson CA. {{Intranasal ketamine treatment in an adult with autism spectrum disorder}}. {The Journal of clinical psychiatry}. 2014 Aug;75(8):835-6.
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15. Yu TW, Berry-Kravis E. {{Autism and fragile x syndrome}}. {Seminars in neurology}. 2014 Jul;34(3):258-65.
Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions. These glimpses on one hand reinforce the idea that synapse development and plasticity are one of the major pathways disrupted in autism, but beyond that are providing fresh molecular support to the idea of mechanistic parallels between idiopathic ASD and specific syndromic neurodevelopmental disorders like fragile X syndrome (FXS). Fragile X syndrome is already recognized as the most common identifiable genetic cause of intellectual disability and ASDs, with many overlapping phenotypic features. Fragile X syndrome is associated with a variety of cognitive, behavioral, physical, and medical problems, which are managed through supportive treatment. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model, and early clinical trials of targeted treatments in humans with FXS. Thus translational strategies in FXS may be poised to serve as models for ASD and other cognitive disorders.
