1. Charman T, Baird G, Simonoff E, Chandler S, Davison-Jenkins A, Sharma A, O’Sullivan T, Pickles A. {{Testing two screening instruments for autism spectrum disorder in UK community child health services}}. {Developmental medicine and child neurology}. 2015 Aug 25.
AIM: The aim of this study was to test the accuracy of two screening instruments in UK Community health services: Modified Checklist for Autism in Toddlers (M-CHAT) and Social Communication Questionnaire (SCQ) for autism spectrum disorder (ASD). A two-stage screening and in-depth assessment procedure, combined with sampling stratification and statistical weighting, allowed the accuracy of the screens to be estimated in the entire population of referred children. METHOD: The study included all referrals of children aged 18 to 48 months to community paediatric and speech and language therapy services in two London districts over a 12-month period between September 2004 and September 2005. Parents of 808 children were approached; screen data were obtained on 543 children (67.2%). A stratified subsample of 120 children received an in-depth assessment for ASD as defined by the International Statistical Classification of Diseases and Related Health Problems, 10th edition. Community clinician judgement of likely ASD was available for 98 out of the 120 children. RESULTS: The sensitivity and specificity were 64% (95% confidence intervals; range 51-80%) and 75% (63-85%) for the SCQ, and 82% (72-92%) and 50% (33-64%) for M-CHAT. There was no evidence that the area under the curve differed between the two screening instruments. There was also no evidence that clinician judgement of likely ASD differed from either of the screening tests. The screening tests did not perform well to confirm preliminary clinical judgement to refer (in series), nor as an alternative indicator for referral (in parallel). INTERPRETATION: While screening tests may provide useful information, their accuracy is moderate. Screening information in isolation should not be used to make referral decisions regarding specialized ASD assessment.
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2. Gipson TT, Poretti A, Thomas EA, Jenkins KT, Desai S, Johnston MV. {{Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations}}. {Journal of child neurology}. 2015 Aug 24.
Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span.
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3. Grodberg D, Siper P, Jamison J, Buxbaum JD, Kolevzon A. {{A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 25.
Subspecialty physicians who have expertise in the diagnosis of autism spectrum disorder typically do not have the resources to administer comprehensive diagnostic observational assessments for patients suspected of ASD. The autism mental status exam (AMSE) is a free and brief eight-item observation tool that addresses this practice gap. The AMSE, designed by Child and Adolescent Psychiatrists, Developmental Behavioral Pediatricians and Pediatric Neurologists structures the observation and documentation of signs and symptoms of ASD and yields a score. Excellent sensitivity and specificity was demonstrated in a population of high-risk adults. This protocol now investigates the AMSE’s test performance in a population of 45 young children age 18 months to 5 years with suspected ASD or social and communication concerns who are evaluated at an autism research center. Each subject received a developmental evaluation, including the AMSE, performed by a Child and Adolescent Psychiatrist, that was followed by independent standardized assessment using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. A Best Estimate Diagnosis protocol used DSM-5 criteria to ascertain a diagnosis of ASD or non-ASD. Receiver operating characteristic curve analysis was used to determine the AMSE cut point with the highest sensitivity and specificity. Findings indicate an optimized sensitivity of 94% and a specificity of 100% for this high prevalence group. Because of its high classification accuracy in this sample of children the AMSE holds promise as a tool that can support both diagnostic decision making and standardize point of care observational assessment of ASD in high risk children. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Heavner K, Burstyn I. {{A Simulation Study of Categorizing Continuous Exposure Variables Measured with Error in Autism Research: Small Changes with Large Effects}}. {International journal of environmental research and public health}. 2015 Aug;12(8):10198-234.
Variation in the odds ratio (OR) resulting from selection of cutoffs for categorizing continuous variables is rarely discussed. We present results for the effect of varying cutoffs used to categorize a mismeasured exposure in a simulated population in the context of autism spectrum disorders research. Simulated cohorts were created with three distinct exposure-outcome curves and three measurement error variances for the exposure. ORs were calculated using logistic regression for 61 cutoffs (mean +/- 3 standard deviations) used to dichotomize the observed exposure. ORs were calculated for five categories with a wide range for the cutoffs. For each scenario and cutoff, the OR, sensitivity, and specificity were calculated. The three exposure-outcome relationships had distinctly shaped OR (versus cutoff) curves, but increasing measurement error obscured the shape. At extreme cutoffs, there was non-monotonic oscillation in the ORs that cannot be attributed to « small numbers. » Exposure misclassification following categorization of the mismeasured exposure was differential, as predicted by theory. Sensitivity was higher among cases and specificity among controls. Cutoffs chosen for categorizing continuous variables can have profound effects on study results. When measurement error is not too great, the shape of the OR curve may provide insight into the true shape of the exposure-disease relationship.
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5. Izuwah DN, Okoh BA, Alikor EA. {{Clinical Pattern of Autism in Nigeria}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 25.
Autism, a global disorder has been widely studied in the Western world. However, there are limited studies on its occurrence, risk factors, and presentation in developing countries such as Nigeria. This retrospective study highlights the pattern of presentation of autism and presence of some risk factors in 75 Nigerian cases referred to a private autism center. The diagnosis of autism was made using Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM IV), International Classification of Diseases Fourth edition, the Modified Checklist for Autism in Toddlers, Autism Treatment Evaluation Checklist, and Childhood Autism Rating Scale. There were 60 males and 15 females with a male to female ratio of 4:1. The mean age at presentation to the center was 6.87 +/- 4.20 years and majority (91.9%) belonged to a high socioeconomic class. Already established risk factors, clinical features, and comorbidities of autism present among the study group were similar to findings in individuals with autism in other parts of the world. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Jaarsma P, Welin S. {{Autism, Accommodation and Treatment: A Rejoinder to Chong-Ming Lim’s Critique}}. {Bioethics}. 2015 Aug 26.
We are very grateful to Chong-Ming Lim for his thoughtful reply published in this journal on one of our articles, which motivated us to think more carefully about accommodating autistic individuals and treating autism. However we believe there are some confusions in Lim’s argument. Lim uses the accommodation thesis, according to which we should accommodate autistic individuals rather than treat autism, as the starting point for his reasoning. He claims that if the accommodation thesis is right, then we should not treat autistic individuals for their autism, not even low-functioning (i.e. intellectually disabled) ones, because this would be disrespectful to all autistic individuals. We should instead limit ourselves to accommodate all autistic individuals. However, the opposition between accommodation and treatment is not valid in the case of autism, because of ambiguity in the concepts of accommodation and treatment. Moreover there is confusion in Lim’s reasoning caused by omitting important facts about the practice of treating autism.
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7. Ledbetter-Cho K, Lang R, Davenport K, Moore M, Lee A, Howell A, Drew C, Dawson D, Charlop MH, Falcomata T, O’Reilly M. {{Effects of script training on the peer-to-peer communication of children with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2015 Aug 24.
A multiple baseline design across participants was used to demonstrate the effects of a script-training procedure on the peer-to-peer communication of 3 children with autism spectrum disorder during group play with peers. Both scripted and unscripted initiations as well as responses to peers increased for all 3 participants. Stimulus generalization across novel toys, settings, and peers was observed. Novel unscripted initiations, responses, and appropriate changes in topics during peer-to-peer exchanges were analyzed by considering the cumulative frequency of these behaviors across phases of the study. Treatment gains were maintained during 4-week follow-up sessions. Results are discussed in terms of recommendations for practitioners, response variability, and potential future avenues of research.
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8. Mandy W, Murin M, Baykaner O, Staunton S, Cobb R, Hellriegel J, Anderson S, Skuse D. {{Easing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD)}}. {Autism}. 2015 Aug 24.
In mainstream education, the transition from primary to secondary school (‘school transition’) is difficult for children with autism spectrum disorder, being marked by high levels of emotional and behavioural difficulties. The Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD) is a new, manualised school transition intervention. We investigated its feasibility and efficacy for children diagnosed with autism spectrum disorder (N = 37; mean age = 11.47 years; mean IQ = 85.24) using an unblinded, non-randomised, controlled design. Teachers found the intervention feasible and acceptable. Children receiving STEP-ASD (n = 17) showed a large (Cohen’s d = 0.88) reduction in school-reported emotional and behavioural difficulties, whereas controls (n = 20) showed a slight increase (d = -0.1) (p = 0.010). These encouraging findings suggest the value of STEP-ASD as a low-intensity intervention for reducing problem behaviours and distress in children with autism spectrum disorder as they transition to mainstream secondary school.
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9. Martin BS, Martinez-Botella G, Loya CM, Salituro FG, Robichaud AJ, Huntsman MM, Ackley MA, Doherty JJ, Corbin JG. {{Rescue of deficient amygdala tonic gamma-aminobutyric acidergic currents in the Fmr mouse model of fragile X syndrome by a novel gamma-aminobutyric acid type A receptor-positive allosteric modulator}}. {Journal of neuroscience research}. 2015 Aug 26.
Alterations in the ratio of excitatory to inhibitory transmission are emerging as a common component of many nervous system disorders, including autism spectrum disorders (ASDs). Tonic gamma-aminobutyric acidergic (GABAergic) transmission provided by peri- and extrasynaptic GABA type A (GABAA ) receptors powerfully controls neuronal excitability and plasticity and, therefore, provides a rational therapeutic target for normalizing hyperexcitable networks across a variety of disorders, including ASDs. Our previous studies revealed tonic GABAergic deficits in principal excitatory neurons in the basolateral amygdala (BLA) in the Fmr1-/y knockout (KO) mouse model fragile X syndrome. To correct amygdala deficits in tonic GABAergic neurotransmission in Fmr1-/y KO mice, we developed a novel positive allosteric modulator of GABAA receptors, SGE-872, based on endogenously active neurosteroids. This study shows that SGE-872 is nearly as potent and twice as efficacious for positively modulating GABAA receptors as its parent molecule, allopregnanolone. Furthermore, at submicromolar concentrations (</=1 muM), SGE-872 is selective for tonic, extrasynaptic alpha4beta3delta-containing GABAA receptors over typical synaptic alpha1beta2gamma2 receptors. We further find that SGE-872 strikingly rescues the tonic GABAergic transmission deficit in principal excitatory neurons in the Fmr1-/y KO BLA, a structure heavily implicated in the neuropathology of ASDs. Therefore, the potent and selective action of SGE-872 on tonic GABAA receptors containing alpha4 subunits may represent a novel and highly useful therapeutic avenue for ASDs and related disorders involving hyperexcitability of neuronal networks. (c) 2015 Wiley Periodicals, Inc.
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10. Neuhaus E, Bernier RA, Beauchaine TP. {{Children with Autism Show Altered Autonomic Adaptation to Novel and Familiar Social Partners}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 25.
Social deficits are fundamental to autism spectrum disorder (ASD), and a growing body of research implicates altered functioning of the autonomic nervous system (ANS), including both sympathetic and parasympathetic branches. However, few studies have explored both branches concurrently in ASD, particularly within the context of social interaction. The current study investigates patterns of change in indices of sympathetic (pre-ejection period; PEP) and parasympathetic (respiratory sinus arrhythmia; RSA) cardiac influence as boys (ages 8-11 years) with (N = 18) and without (N = 18) ASD engage in dyadic social interaction with novel and familiar social partners. Groups showed similar patterns of autonomic change during interaction with the novel partner, but differed in heart rate, PEP, and RSA reactivity while interacting with a familiar partner. Boys without ASD evinced decreasing sympathetic and increasing parasympathetic influence, whereas boys with ASD increased in sympathetic influence. Boys without ASD also demonstrated more consistent ANS responses across partners than those with ASD, with parasympathetic responding differentiating familiar and novel interaction partners. Finally, PEP slopes with a familiar partner correlated with boys’ social skills. Implications include the importance of considering autonomic state during clinical assessment and treatment, and the potential value of regulation strategies as a complement to intervention programs aiming to support social cognition and behavior. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Simas T, Chattopadhyay S, Hagan C, Kundu P, Patel A, Holt R, Floris D, Graham J, Ooi C, Tait R, Spencer M, Baron-Cohen S, Sahakian B, Bullmore E, Goodyer I, Suckling J. {{Semi-Metric Topology of the Human Connectome: Sensitivity and Specificity to Autism and Major Depressive Disorder}}. {PloS one}. 2015;10(8):e0136388.
INTRODUCTION: The human functional connectome is a graphical representation, consisting of nodes connected by edges, of the inter-relationships of blood oxygenation-level dependent (BOLD) time-series measured by MRI from regions encompassing the cerebral cortices and, often, the cerebellum. Semi-metric analysis of the weighted, undirected connectome distinguishes an edge as either direct (metric), such that there is no alternative path that is accumulatively stronger, or indirect (semi-metric), where one or more alternative paths exist that have greater strength than the direct edge. The sensitivity and specificity of this method of analysis is illustrated by two case-control analyses with independent, matched groups of adolescents with autism spectrum conditions (ASC) and major depressive disorder (MDD). RESULTS: Significance differences in the global percentage of semi-metric edges was observed in both groups, with increases in ASC and decreases in MDD relative to controls. Furthermore, MDD was associated with regional differences in left frontal and temporal lobes, the right limbic system and cerebellum. In contrast, ASC had a broadly increased percentage of semi-metric edges with a more generalised distribution of effects and some areas of reduction. In summary, MDD was characterised by localised, large reductions in the percentage of semi-metric edges, whilst ASC is characterised by more generalised, subtle increases. These differences were corroborated in greater detail by inspection of the semi-metric backbone for each group; that is, the sub-graph of semi-metric edges present in >90% of participants, and by nodal degree differences in the semi-metric connectome. CONCLUSION: These encouraging results, in what we believe is the first application of semi-metric analysis to neuroimaging data, raise confidence in the methodology as potentially capable of detection and characterisation of a range of neurodevelopmental and psychiatric disorders.
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12. Simut RE, Vanderfaeillie J, Peca A, Van de Perre G, Vanderborght B. {{Children with Autism Spectrum Disorders Make a Fruit Salad with Probo, the Social Robot: An Interaction Study}}. {Journal of autism and developmental disorders}. 2015 Aug 25.
Social robots are thought to be motivating tools in play tasks with children with autism spectrum disorders. Thirty children with autism were included using a repeated measurements design. It was investigated if the children’s interaction with a human differed from the interaction with a social robot during a play task. Also, it was examined if the two conditions differed in their ability to elicit interaction with a human accompanying the child during the task. Interaction of the children with both partners did not differ apart from the eye-contact. Participants had more eye-contact with the social robot compared to the eye-contact with the human. The conditions did not differ regarding the interaction elicited with the human accompanying the child.
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13. Sundberg M, Sahin M. {{Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex}}. {Journal of child neurology}. 2015 Aug 24.
Approximately 50% of patients with the genetic disease tuberous sclerosis complex present with autism spectrum disorder. Although a number of studies have investigated the link between autism and tuberous sclerosis complex, the etiology of autism spectrum disorder in these patients remains unclear. Abnormal cerebellar function during critical phases of development could disrupt functional processes in the brain, leading to development of autistic features. Accordingly, the authors review the potential role of cerebellar dysfunction in the pathogenesis of autism spectrum disorder in tuberous sclerosis complex. The authors also introduce conditional knockout mouse models of Tsc1 and Tsc2 that link cerebellar circuitry to the development of autistic-like features. Taken together, these preclinical and clinical investigations indicate the cerebellum has a profound regulatory role during development of social communication and repetitive behaviors.
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14. Zeidan-Chulia F, Salmina AB, Noda M, Verkhratsky A. {{Rho GTPase RAC1 at the Molecular Interface Between Genetic and Environmental Factors of Autism Spectrum Disorders}}. {Neuromolecular medicine}. 2015 Aug 25.
