1. {{Valproate in pregnancy linked to autism in children}}. {BMJ};2013;346:f2602.
2. Bauminger-Zviely N, Eden S, Zancanaro M, Weiss PL, Gal E. {{Increasing social engagement in children with high-functioning autism spectrum disorder using collaborative technologies in the school environment}}. {Autism};2013 (Apr 24)
This study examined the effectiveness of a school-based, collaborative technology intervention combined with cognitive behavioral therapy to teach the concepts of social collaboration and social conversation to children with high-functioning autism spectrum disorders (n = 22) as well as to enhance their actual social engagement behaviors (collaboration and social conversation) with peers. Two computer programs were included in the intervention: « Join-In » to teach collaboration and « No-Problem » to teach conversation. Assessment in the socio-cognitive area included concept perception measures, problem solving, Theory of Mind, and a dyadic drawing collaborative task to examine change in children’s social engagement. Results demonstrated improvement in the socio-cognitive area with children providing more active social solutions to social problems and revealing more appropriate understanding of collaboration and social conversation after intervention, with some improvement in Theory of Mind. Improvement in actual social engagement was more scattered.
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3. Cooper M, Martin J, Langley K, Hamshere M, Thapar A. {{Autistic traits in children with ADHD index clinical and cognitive problems}}. {Eur Child Adolesc Psychiatry};2013 (Apr 25)
Traits of autistic spectrum disorders (ASD) occur frequently in attention deficit hyperactivity disorder (ADHD), but the significance of their presence in terms of phenotype and underlying neurobiology is not properly understood. This analysis aimed to determine whether higher levels of autistic traits, as measured by the Social Communication Questionnaire (SCQ), index a more severe presentation in a large, rigorously phenotyped sample of children with ADHD (N = 711). Regression analyses were used to examine association of SCQ scores with core ADHD features, clinical comorbidities and cognitive and developmental features, with adjustment for putative confounders. For outcomes showing association with total SCQ score, secondary analyses determined levels of differential association of the three ASD sub-domains. Results suggest that increasing ASD symptomatology within ADHD is associated with a more severe phenotype in terms of oppositional, conduct and anxiety symptoms, lower full-scale IQ, working memory deficits and general motor problems. These associations persisted after accounting for ADHD severity, suggesting that autistic symptomatology independently indexes the severity of comorbid impairments in the context of ADHD. Sub-domain scores did not show unique contributions to most outcomes, except that social deficits were independently associated with oppositional symptoms and repetitive behaviours independently predicted hyperactive-impulsive symptoms and motor problems. It would be worthwhile for clinicians to consider levels of socio-communicative and repetitive traits in those with ADHD who do not meet diagnostic criteria for ASD, as they index higher levels of phenotypic complexity, which may have implications for efficacy of interventions.
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4. Daniels AM, Mandell DS. {{Children’s Compliance with American Academy of Pediatrics’ Well-Child Care Visit Guidelines and the Early Detection of Autism}}. {J Autism Dev Disord};2013 (Apr 26)
This study estimated compliance with American Academy of Pediatrics (AAP) guidelines for well-child care and the association between compliance and age at diagnosis in a national sample of Medicaid-enrolled children with autism (N = 1,475). Mixed effects linear regression was used to assess the relationship between compliance and age at diagnosis. Mean age at diagnosis was 37.4 (SD 8.4) months, and mean compliance was 55 % (SD 33 %). Children whose care was compliant with AAP guidelines were diagnosed 1.6 months earlier than children who received no well-child care. Findings support that the timely receipt of well-child care may contribute to earlier detection. Additional research on the contribution of compliance, well-child visit components and provider characteristics on the timely diagnosis of autism is needed.
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5. Eack SM, Greenwald DP, Hogarty SS, Bahorik AL, Litschge MY, Mazefsky CA, Minshew NJ. {{Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorder: Results of an 18-month Feasibility Study}}. {J Autism Dev Disord};2013 (Apr 26)
Adults with autism experience significant impairments in social and non-social information processing for which few treatments have been developed. This study conducted an 18-month uncontrolled trial of Cognitive Enhancement Therapy (CET), a comprehensive cognitive rehabilitation intervention, in 14 verbal adults with autism spectrum disorder to investigate its feasibility, acceptability, and initial efficacy in treating these impairments. Results indicated that CET was satisfying to participants, with high treatment attendance and retention. Effects on cognitive deficits and social behavior were also large (d = 1.40-2.29) and statistically significant (all p < .001). These findings suggest that CET is a feasible, acceptable, and potentially effective intervention for remediating the social and non-social cognitive impairments in verbal adults with autism.
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6. Feliciano P. {{PAK inhibitor in fragile X}}. {Nat Genet};2013 (Apr 26);45(5):477.
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7. Gillespie-Lynch K, Elias R, Escudero P, Hutman T, Johnson SP. {{Atypical Gaze Following in Autism: A Comparison of Three Potential Mechanisms}}. {J Autism Dev Disord};2013 (Apr 26)
In order to evaluate the following potential mechanisms underlying atypical gaze following in autism, impaired reflexive gaze following, difficulty integrating gaze and affect, or reduced understanding of the referential significance of gaze, we administered three paradigms to young children with autism (N = 21) and chronological (N = 21) and nonverbal mental age (N = 21) matched controls. Children with autism exhibited impaired reflexive gaze following. The absence of evidence of integration of gaze and affect, regardless of diagnosis, indicates ineffective measurement of this construct. Reduced gaze following was apparent among children with autism during eye-tracking and in-person assessments. Word learning from gaze cues was better explained by developmental level than autism. Thus, gaze following may traverse an atypical, rather than just delayed, trajectory in autism.
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8. Gonzalez DA, Glazebrook CM, Studenka BE, Lyons J. {{Motor interactions with another person: do individuals with Autism Spectrum Disorder plan ahead?}}. {Front Integr Neurosci};2013;7:23.
Interpersonal motor interactions (joint-actions) occur on a daily basis. In joint-action situations, typically developing (TD) individuals consider the end-goal of their partner and adjust their own movements to accommodate the other person. The movement planning processes required for joint-action may, however, be difficult for individuals with an Autism Spectrum Disorder (ASD) given documented difficulties in performance on theory of mind (ToM) and motor tasks. The goal of this experiment was to determine if individuals with ASD exhibit end-state comfort behaviors similar to their TD peers in joint-action situations. Participants were asked to either pass, place, or use three common tools: a wooden toy hammer, a stick, or a calculator. These tools were selected because the degree of affordance they offer (i.e., the physical characteristics they posses to prompt proper use) ranges from direct (hammer) to indirect (calculator). Participants were asked to pass the tool to a confederate who intended to place the tool down, or use the tool. Variables of interest included beginning and end-state grip orientations of the participant and confederate (comfortable or uncomfortable) as a function of task goal, and the side to which the tool was placed or passed. Similar to Gonzalez et al. (2011), some individuals with ASD maximized their partner’s beginning-state comfort by adopting personally uncomfortable postures. That said, their performance was more variable than their TD peers who consistently passed tools in a manner that facilitated comfortable use by the confederate. Therefore, the movement planning processes used to prepare to pass a tool are not stereotypical across all individuals with ASD. We propose that the novel joint-action task described herein provides the basis for testing an important link between motor performance and more complex social and communication behaviors.
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9. Huang A, Seshadri K, Matthews TA, Ostfeld BM. {{Parental Perspectives on Use, Benefits, and Physician Knowledge of Complementary and Alternative Medicine in Children with Autistic Disorder and Attention-Deficit/Hyperactivity Disorder}}. {J Altern Complement Med};2013 (Apr 26)
Abstract Background: Complementary and alternative medicine (CAM) use appears to be increasing in children with developmental disorders. However, it is not clear whether parents perceive their healthcare providers as resources who are knowledgeable about CAM therapies and are interested in further developing their knowledge. Objectives: (1) To establish and compare use of, and perceived satisfaction with, traditional medicine and CAM in children with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs) and (2) to assess parental perceptions of physician knowledge of CAM and physician interest in continuing education about CAM for the two groups of parents. Methods: Families of children with a diagnosis of ADHD or ASD were surveyed regarding the frequency of use of traditional treatment and CAM, parental perceptions of the helpfulness of each therapy, parental perceptions regarding physicians’ knowledge level about CAM, and physician interest in continuing education. Results: Thirty-six percent (n=135) of 378 surveys were returned: 41 contained a diagnosis of ADHD and 22 of ASD. Traditional therapies were used by 98% of children with ADHD and 100% of those with ASD. Perceived helpfulness of medication was 92% for children with ADHD and 60% for children with ASD (p<0.05). CAM was used for 19.5% of children with ADHD and 82% of children with ASD. Perceived satisfaction for any form of CAM in the children with ADHD was at an individual patient level. Satisfaction for two of the most commonly used CAM treatments in children with ASD ranged from 50% to 78%. In children with ASD (the diagnostic group with the highest use of and satisfaction with CAM), physician’s perceived knowledge of CAM was lower (14% versus 38%; p<0.05), as was perceptions of the physician’s interest in learning more (p<0.05). Conclusion: CAM use is significant, especially in children with ASD. Physicians are not perceived as a knowledgeable resource.
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10. Khanna R, Jariwala K, Bentley JP. {{Psychometric properties of the EuroQol Five Dimensional Questionnaire (EQ-5D-3L) in caregivers of autistic children}}. {Qual Life Res};2013 (Apr 25)
PURPOSE: This study aimed to ascertain the psychometric properties of EuroQol Five Dimensional Questionnaire (EQ-5D-3L) in primary caregivers of children with autism. The convergent validity, discriminant validity, known-groups validity, internal consistency reliability, and floor and ceiling effects of EQ-5D-3L were analyzed. METHODS: A cross-sectional design was used for study purposes. Through an online survey, relevant study information was collected from 316 primary caregivers of children with autism. Study participants were from families of children with autism living in the United States who were registered with the Interactive Autism Network. Convergent validity of the EQ-5D-3L was assessed through its correlation with other measures of similar constructs. Discriminant validity was assessed by observing the correlation of EQ-5D-3L domains with theoretically unrelated constructs. Known-groups validity was tested by comparing EQ-5D-3L index and visual analog scale (VAS) scores across levels of autism severity among the care recipients. Internal consistency reliability of EQ-5D-3L was tested. Lastly, floor and ceiling effects of EQ-5D-3L were assessed. RESULTS: More than 60 % of participants reported problems of ‘anxiety/depression.’ Convergent and discriminant validity of the EQ-5D-3L was good. Significant correlation (convergent validity) was observed among EQ-5D-3L index and VAS and (SF-12v2) physical component summary and mental component summary scores. Caregivers’ EQ-5D-3L index and VAS scores varied by levels of autism severity among care recipients, providing evidence of known-groups validity. Reliability assessed through Cronbach’s alpha was less than satisfactory; however, corrected item-total correlations were adequate. CONCLUSIONS: The EQ-5D-3L is a psychometrically sound tool to elicit health state preferences among caregivers of children with autism.
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11. Lau WY, Kelly AB, Peterson CC. {{Further Evidence on the Factorial Structure of the Autism Spectrum Quotient (AQ) for Adults With and Without a Clinical Diagnosis of Autism}}. {J Autism Dev Disord};2013 (Apr 26)
The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic traits however its factor structure has been primarily determined from nonclinic populations. This study aimed to establish an internally coherent and reliable factor structure for the AQ using a sample of 455 Australian adults of whom 141 had autism spectrum disorder (ASD) diagnoses. Principal component analysis revealed a 39-item questionnaire with five-factors: Sociability, Social Cognition, Interest in Patterns, Narrow Focus and Resistance to Change. The revised AQ-39 had sound goodness-of-fit indices, good-to-excellent internal consistency and test-retest reliability, and scores for ASD and non-ASD participants were significantly different. The AQ-39 may be useful in screening and for guiding the focus of therapy.
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12. Newton CR, Chugani DC. {{The continuing role of ICNA in Africa: how to tackle autism?}}. {Dev Med Child Neurol};2013 (Jun);55(6):488-489.
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13. Orsmond GI, Shattuck PT, Cooper BP, Sterzing PR, Anderson KA. {{Social Participation Among Young Adults with an Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Apr 25)
Investigating social participation of young adults with an autism spectrum disorder (ASD) is important given the increasing number of youth aging into young adulthood. Social participation is an indicator of life quality and overall functioning. Using data from the National Longitudinal Transition Study 2, we examined rates of participation in social activities among young adults who received special education services for autism (ASD group), compared to young adults who received special education for intellectual disability, emotional/behavioral disability, or a learning disability. Young adults with an ASD were significantly more likely to never see friends, never get called by friends, never be invited to activities, and be socially isolated. Among those with an ASD, lower conversation ability, lower functional skills, and living with a parent were predictors of less social participation.
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14. Parsons S, Charman T, Faulkner R, Ragan J, Wallace S, Wittemeyer K. {{Commentary – bridging the research and practice gap in autism: The importance of creating research partnerships with schools}}. {Autism};2013 (Apr 24)
While the last 10 years have seen a significant increase in research published on early intervention and autism, there is a persistent disconnect between educational research and practice. Governments have invested significant funds in autism education, and a range of approaches have been implemented in schools, but there is limited research exploring whether these educational strategies are effective and a lack of involvement of teaching professionals in the research. Given that the majority of children and young people with autism spend most of their time in school and not in early or specialised intervention programmes, there is a compelling need to conduct better educational research and implement educational interventions in schools. We argue that building collaborative partnerships between researchers and school practitioners is central to achieving improved understanding of, and outcomes for, pupils on the autism spectrum. This commentary offers perspectives from teachers about their experiences of, and priorities for, research, and also presents a model of collaboration between autism school practitioners and researchers, which could support a more integrated approach to research. We reflect on the strengths and challenges of this as well as outcomes achieved so far.
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15. Shinoda Y, Sadakata T, Furuichi T. {{Animal Models of Autism Spectrum Disorder (ASD): A Synaptic-Level Approach to Autistic-Like Behavior in Mice}}. {Exp Anim};2013;62(2):71-78.
Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders and is thought to be closely associated with genetic factors. It is noteworthy that many ASD-associated genes reported by genome-wide association studies encode proteins related to synaptic formation, transmission, and plasticity. Therefore, it is essential to elucidate the relationship between deficiencies in these genes and the relevant ASD-related phenotypes using synaptic and behavioral phenotypic analysis of mice that are genetically modified for genes related to ASD (e.g., knockout or mutant mice). In this review, we focus on the behavioral-, cellular-, and circuit-level phenotypes, including synaptic formation and function, of several knockout mouse models with genetic mutations related to ASD. Moreover, we introduce our recent findings on the possible association of the dense-core vesicle secretion-related gene CAPS2/CADPS2 with ASD by using knockout mice. Finally, we discuss the usefulness and limitations of various mouse models with single gene mutations for understanding ASD.
16. Staniland JJ, Byrne MK. {{The Effects of a Multi-Component Higher-Functioning Autism Anti-Stigma Program on Adolescent Boys}}. {J Autism Dev Disord};2013 (Apr 26)
A six-session higher-functioning autism anti-stigma program incorporating descriptive, explanatory and directive information was delivered to adolescent boys and the impact upon knowledge, attitudes and behavioural intentions towards peers with autism was evaluated. Participants were seventh-, eighth- and ninth-grade students (N = 395) from regular classes in a mainstream school. Two-eighth-grade classes were randomly allocated to the intervention condition and all remaining students were either allocated to the no-intervention peer or no-intervention non-peer condition. The anti-stigma program improved the knowledge and attitudes, but not the behavioural intentions of participants towards their peers with autism. Knowledge and attitudinal changes were maintained at follow-up. There were no spill-over effects of the program to non-targeted students. These results provide some preliminary evidence for the effectiveness of multi-session anti-stigma programs incorporating combined information for adolescent students in inclusive educational environments.
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17. Stoit AM, van Schie HT, Slaats-Willemse DI, Buitelaar JK. {{Grasping Motor Impairments in Autism: Not Action Planning but Movement Execution is Deficient}}. {J Autism Dev Disord};2013 (Apr 26)
Different views on the origin of deficits in action chaining in autism spectrum disorders (ASD) have been posited, ranging from functional impairments in action planning to internal models supporting motor control. Thirty-one children and adolescents with ASD and twenty-nine matched controls participated in a two-choice reach-to-grasp paradigm wherein participants received cueing information indicating either the object location or the required manner of grasping. A similar advantage for location cueing over grip cueing was found in both groups. Both accuracy and reaction times of the ASD group were indistinguishable from the control group. In contrast, movement times of the ASD group were significantly delayed in comparison with controls. These findings suggest that movement execution rather than action planning is deficient in ASD, and that deficits in action chaining derive from impairments in internal action models supporting action execution.
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18. Taylor LJ, Maybery MT, Wray J, Ravine D, Hunt A, Whitehouse AJ. {{Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?}}. {J Autism Dev Disord};2013 (Apr 26)
Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children’s Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains.
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19. Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY. {{Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth}}. {Hum Mol Genet};2013 (Apr 24)
Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine array-CGH evaluation of sporadic ID cases. The c.186delC and c.3597dupA KIAA2022 truncating mutations were identified by X-chromosome exome sequencing, while array-CGH discovered a 70kb microduplication encompassing KIAA2022 exon 1 in the third family. This duplication decreased KIAA2022 mRNA level in patients’ lymphocytes by 60%. Detailed clinical examination of all patients, including the two initially reported, indicated moderate to severe ID with autistic features, strabismus in all patients, with no specific dysmorphic features other than a round face in infancy, and no structural brain abnormalities on MRI. Interestingly, the patient with decreased KIAA2022 expression had only mild ID with severe language delay and repetitives behaviors falling in the range of an autism dpectrum disorder. Since little is known on KIAA2022 function, we conducted morphometric studies in cultured rat hippocampal neurons. We found that siRNA-mediated KIAA2022 knockdown resulted in marked impairment in neurite outgrowth including both the dendrites and the axons, suggesting a major role for KIAA2022 in neuron development and brain function.
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20. Vislay RL, Martin BS, Olmos-Serrano JL, Kratovac S, Nelson DL, Corbin JG, Huntsman MM. {{Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile x syndrome}}. {J Neurosci};2013 (Apr 24);33(17):7548-7558.
Fragile X syndrome (FXS) is a debilitating neurodevelopmental disorder thought to arise from disrupted synaptic communication in several key brain regions, including the amygdala, a central processing center for information with emotional and social relevance. Recent studies reveal defects in both excitatory and inhibitory neurotransmission in mature amygdala circuits in Fmr1(-/y) mutants, the animal model of FXS. However, whether these defects are the result of altered synaptic development or simply faulty mature circuits remains unknown. Using a combination of electrophysiological and genetic approaches, we show the development of both presynaptic and postsynaptic components of inhibitory neurotransmission in the FXS amygdala is dynamically altered during critical stages of neural circuit formation. Surprisingly, we observe that there is a homeostatic correction of defective inhibition, which, despite transiently restoring inhibitory synaptic efficacy to levels at or beyond those of control, ultimately fails to be maintained. Using inhibitory interneuron-specific conditional knock-out and rescue mice, we further reveal that fragile X mental retardation protein function in amygdala inhibitory microcircuits can be segregated into distinct presynaptic and postsynaptic components. Collectively, these studies reveal a previously unrecognized complexity of disrupted neuronal development in FXS and therefore have direct implications for establishing novel temporal and region-specific targeted therapies to ameliorate core amygdala-based behavioral symptoms.
