1. Ben-Itzchak E, Ben-Shachar S, Zachor DA. {{Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation}}. {Autism Res};2013 (Jul 19)
Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. The aim of this study was to compare sex differences in the prevalence of specific neurological phenotypes commonly described in ASD. The study included 663 participants, aged 18 months to 15 years, diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests, and obtaining medical, developmental, and familial histories from the parents. Phenotypes under investigation were macro- and microcephaly, developmental regression, minor neurological and musculoskeletal deficits (MNMD), and seizures. Male : female ratio in the ASD group was 6.7:1. No sex differences in autism severity, cognitive ability, and adaptive functioning were noted. Mean head circumference percentile for males (50.1 +/- 25.6) was significantly larger than females (43.4 +/- 30.2). Micro- and macrocephaly were more frequent in ASD than expected (5.9%; 18.1%, respectively). Microcephaly in females (15.1%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ significantly. Regression was noted in 30.2% of the females with ASD, significantly higher than in males (18.9%). MNMD was documented in 73.8% of the females, significantly higher than in males (57.1%). M:F ratio decreased in a group with two or more phenotypes (3.6:1), while male predominance was more significant in the group without phenotypes (13.6:1). Neurological phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in ASD in females. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Bernhardt BC, Valk SL, Silani G, Bird G, Frith U, Singer T. {{Selective Disruption of Sociocognitive Structural Brain Networks in Autism and Alexithymia}}. {Cereb Cortex};2013 (Jul 17)
Autism spectrum conditions (ASC) are neurodevelopmental disorders characterized by abnormal social cognition. A core feature of ASC is disrupted Theory of Mind (ToM), our ability to take the mental perspective of others. ASC is also associated with alexithymia, a trait characterized by altered emotional interoception and empathy. Here, we applied structural MRI covariance analysis to assess whether ASC and alexithymia differentially affect structural brain networks associated with sociocognitive and socioaffective functions. Based on previous functional MRI findings, we expected disrupted ToM networks (centered on dorsomedial prefontal cortex [dmPFC], and temporo-parietal junction [TPJ]) in ASC, while alexithymia would affect networks centered on fronto-insular cortex (FI), regions associated with interoception of emotion and empathy. Relative to controls, ASC indeed showed reduced covariance in networks centered on dmPFC and TPJ, but not within FI networks. Irrespective of ASC, covariance was negatively modulated by alexithymia in networks extending from FI to posterior regions. Network findings were complemented by self-reports, indicating decreased perspective taking but normal empathic concern in ASC. Our results show divergent effects of ASC and alexithymia on inter-regional structural networks, suggesting that networks mediating socioaffective processes may be separable from networks mediating sociocognitive processing.
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3. Braddock BA, Pickett C, Ezzelgot J, Sheth S, Korte-Stroff E, Loncke F, Bock L. {{Potential communicative acts in children with autism spectrum disorders}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To describe potential communicative acts in a sample of 17 children with autism spectrum disorders who produced few to no intelligible words (mean age = 32.82 months). Methods: Parents reported on children’s potential communicative acts for 10 different communicative functions. A potential communicative act was defined as any behavior produced by an individual that may be interpreted by others to serve a communicative purpose. Results: Significant associations were found between higher number of gesture types and increased scores on language comprehension, language expression, and non-verbal thinking measures. Relative to other types of potential communicative acts, parents reported that children used higher proportions of body movement. Conclusion: Number of body movement types was not related to child ability, while number of gesture types was related to receptive and expressive language. Findings underscore the link between language and gesture, and offer support for an ecological systems perspective of language learning.
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4. Cassimos DC, Polychronopoulou SA, Tripsianis GI, Syriopoulou-Delli CK. {{Views and attitudes of teachers on the educational integration of students with autism spectrum disorders}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objectives: To investigate the views and attitudes of Greek teachers on educational and vocational integration of students with autism spectrum disorders (ASD). Methods: A statistically reliable sample of questionnaires distributed towards a diversified teacher population is evaluated. The mean values of teachers’ responses are analyzed with respect to critical independent variables: previous relevant training; and/or experience. Results: The majority of the sample had a positive view towards the educational and vocational integration of students with ASD. Nevertheless, teachers appear to be sceptical in assuming that these students can be efficiently treated in their classroom. The vast majority of teachers maintain that students with ASD can be trained in technical vocation. However, the absence of support services is highly ranked as the most serious constraint for vocational integration. Conclusion: Training and experience substantially influenced teachers’ views and attitudes in a positive way towards the integration of students with ASD.
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5. Castro S, Ferreira T, Dababnah S, Pinto AI. {{Linking autism measures with the ICF-CY: Functionality beyond the borders of diagnosis and interrater agreement issues}}. {Dev Neurorehabil};2013 (Jul 19)
Purpose: This study aims to: (1) link measurements used in the diagnosis of children with autism spectrum disorders (ASDs) with the International Classification of Functioning, Disability and Health – Children and Youth Version (ICF-CY) and (2) analyse issues relating with interrater agreement within this process. Method: Three instruments for ASD diagnosis were linked with the ICF-CY using deductive content analysis. Results: Correspondences between items’ content and ICF-CY dimensions were identified for all ICF-CY components, except for environmental factors. Interrater agreement varied with the content of the units analyzed. Conclusion: The linkage between the ICF-CY and the analyzed measures provides a way to document assessment-intervention outcomes using a common language, as well as to integrate diagnostic and functional data. Diagnostic measurements provide functional information beyond the diagnostic criteria defined for autism. A functional perspective is added to diagnostic outcomes, thus better informing educational and rehabilitation practices for children with ASD.
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6. Chamak B, Bonniau B. {{Changes in the Diagnosis of Autism: How Parents and Professionals Act and React in France}}. {Cult Med Psychiatry};2013 (Jul 17)
The category of autism has undergone huge changes over the past 20 years. This study was undertaken to analyze the changes and how parents have experienced the diagnostic process in France. Data were obtained from in-depth interviews with parents and psychiatrists, and from 248 questionnaires with open-ended questions filled in by parents. We compared the experiences of parents with adult autistic children to those of parents with young autistic children. Progressively earlier age at diagnosis was evidenced. These changes occurred later than in North America and the UK, due to the reluctance of French professionals to adopt the new classifications of diseases which they viewed as undervaluing both the physician’s holistic clinical skills, and psychoanalytical interpretations. Parents’ experiences and interviews with psychiatrists were analyzed in order to document changes over time in the diagnostic process following tensions between parents and professionals, and intra-professional debates in psychiatry. Our data support the notion that the diagnosis of autism is historically and nationally contingent. The interactions between changes in the diagnostic process, policy, and parental experiences have led to changes in the way autism is defined, understood, and experienced.
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7. Chouinard PA, Noulty WA, Sperandio I, Landry O. {{Global processing during the Muller-Lyer illusion is distinctively affected by the degree of autistic traits in the typical population}}. {Exp Brain Res};2013 (Jul 18)
Earlier work examining susceptibility to visual illusions in autism has reported discrepant findings. Some of this research suggests that global processing is affected in autism while some of this research suggests otherwise. The discrepancies may relate to compliance issues and differences in population samples in terms of symptom severity, cognitive ability, and co-morbid disorders. Equally important, most of this work tended to treat global processing as if it were a singular construct, invoking similar cognitive operations across different visual illusions. We argue that this is not a fair assumption to make given the extensive research that has classified visual illusions on the basis of their cognitive demands. With this in mind, and to overcome the many caveats associated with examining a heterogeneous disorder such as autism directly, we examined how susceptibility to various illusions relates differently to people’s scores on the Autism Spectrum Quotient (AQ) questionnaire. We found that susceptibility to the Muller-Lyer but not to the Ebbinghaus and Ponzo illusions decreased as a function of AQ and that the relationship between AQ and susceptibility to the Muller-Lyer illusion was different from those between AQ and susceptibility to the Ebbinghaus and Ponzo illusions. Our findings confirm that the cognitive operations underlying global processing in the Muller-Lyer illusion are different from the other illusions and, more importantly, reveal that they might be affected in autism. Future brain mapping studies could provide additional insight into the neural underpinnings of how global processing might and might not be affected in autism.
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8. Dardas LA, Ahmad MM. {{Coping Strategies as Mediators and Moderators between Stress and Quality of Life among Parents of Children with Autistic Disorder}}. {Stress Health};2013 (Jul 19)
The purpose of this cross-sectional study was to examine coping strategies as mediators and moderators between stress and quality of life (QoL) among parents of children with autistic disorder. The convenience sample of the study consisted of 184 parents of children with autistic disorder. Advanced statistical methods for analyses of mediator and moderator effects of coping strategies were used. The results revealed that ‘accepting responsibility’ was the only mediator strategy in the relationship between stress and QoL. The results also revealed that only ‘seeking social support’ and ‘escape avoidance’ were moderator strategies in the relationship between stress and QoL. This study is perhaps the first to investigate the mediating and moderating effects of coping on QoL of parents of children with autistic disorder. Recommendations for practice and future research are presented. Copyright (c) 2013 John Wiley & Sons, Ltd.
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9. Downs J, Parkinson S, Ranelli S, Leonard H, Diener P, Lotan M. {{Perspectives on hand function in girls and women with Rett syndrome}}. {Dev Neurorehabil};2013 (Jul 19)
Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment. Results: There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning. Conclusion: Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning.
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10. Ecker C, Spooren W, Murphy D. {{Developing new pharmacotherapies for autism}}. {J Intern Med};2013 (Jul 19)
Developing new pharmacotherapies for autism spectrum disorder (ASD) is a challenge. ASD has a complex genetic architecture, several neurobiological phenotypes and multiple symptom domains. However new opportunities are emerging that could lead to the development of ‘targeted’ and individualized pharmacological interventions. Here, first we review these important new insights into the aetiology and neurobiology of ASD with particular focus on (i) genetic variants mediating synaptic structure and functioning and (ii) differences in brain anatomy, chemistry and connectivity in this condition. The characterization of the genotypic and phenotypic differences underlying ASD may in the future be invaluable for stratifying the large range of different individuals on the autism spectrum into genetically and/or biologically homogeneous subgroups that may respond to similar targeted interventions. Secondly, we propose a strategic framework for the development of targeted pharmacotherapies for ASD, which comprises several different stages in which research findings are translated into clinical applications. The establishment of animal models and cellular assays is important for developing and testing new pharmacological targets before initiating large-scale clinical trials. Finally, we present the European Autism Interventions – A Multicentre Study for Developing New Medications (EU-AIMS) Initiative, which was set up in the context of the EU Innovative Medicines Initiative as the first European platform for integrated translational research in ASD. The EU-AIMS Initiative consists of academic and industrial partners working in collaboration to deliver a more ‘personalized’ approach to diagnosing and treating ASD in the future. This article is protected by copyright. All rights reserved.
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11. Falck-Ytter T, Rehnberg E, Bolte S. {{Lack of visual orienting to biological motion and audiovisual synchrony in 3-year-olds with autism}}. {PLoS One};2013;8(7):e68816.
It has been suggested that children with autism orient towards audiovisual synchrony (AVS) rather than biological motion and that the opposite pattern is to be expected in typical development. Here, we challenge this notion by showing that 3-year-old neurotypical children orient to AVS and to biological motion in point-light displays but that 3-year-old children with autism orient to neither of these types of information. Thus, our data suggest that two fundamental mechanisms are disrupted in young children with autism: one that supports orienting towards others’ movements and one that supports orienting towards multimodally specified events. These impairments may have consequences for socio-cognitive development and brain organization.
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12. Gunn KS, Trembath D, Hudry K. {{An examination of interactions among children with autism and their typically developing peers}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To determine whether pre-school children with Autism Spectrum Disorders (ASD) interact differently with their peers with ASD compared to their typically developing (TD) peers, across three activities (free play, structured group time and semi-structured play) in an early intervention setting. Methods: We completed a series of non-experimental case studies involving 13 children with ASD and two TD peers. Results: We found trends, but no uniform differences, in the frequency or quality of means by which the children with ASD interacted with one another versus with their TD peers across the three contexts. The children with ASD interacted with both peer types more frequently during the semi-structured and structured activities, than during free play. Conclusions: The children with ASD showed no clear bias towards one peer type over the other. Semi-structured activities may be the best context in which to facilitate peer interactions involving children with ASD in early intervention settings.
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13. Horovitz M, Matson JL. {{The baby and infant screen for children with autism traits-part 2: The development of age-based cutoffs}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To create age-based scoring procedures for the BISCUIT-Part 2, an assessment measure of comorbid psychopathology in infants and toddlers aged 17-37 months. Method: The standard deviation from the mean method was used to develop separate age-based cutoffs for those with an autism spectrum disorder (ASD) and those with non-ASD related developmental delays, using a sample of 2867 infants and toddlers and their parents. Results: As age increased in those with ASD, higher cutoff scores were indicated. Less variation was seen in the cutoff scores established for those with non-ASD related delays. Conclusion: The findings suggest that as children with ASD grow older, symptoms of comorbidity become more prevalent and easier to detect. The implications of these results, as well as possible areas of future research, are discussed.
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14. Liu KP, Wong D, Chung AC, Kwok N, Lam MK, Yuen CM, Arblaster K, Kwan AC. {{Effectiveness of a Workplace Training Programme in Improving Social, Communication and Emotional Skills for Adults with Autism and Intellectual Disability in Hong Kong – A Pilot Study}}. {Occup Ther Int};2013 (Jul 16)
This pilot study explored the effectiveness of workplace training programme that aimed to enhance the work-related behaviours in individuals with autism and intellectual disabilities. Fourteen participants with autism and mild to moderate intellectual disability (mean age = 24.6 years) were recruited. The workplace training programme included practices in work context and group educational sessions. A pre-test-post-test design was used with the Work Personality Profile, the Scale of Independent Behaviour Revised and the Observational Emotional Inventory Revised to evaluate the targeted behaviours. Improvement in social and communication skills specific to the workplace was achieved. For emotional control, participants became less confused and had a better self-concept. However, improvement in other general emotional behaviours, such as impulse control, was limited. The results indicated that a structured workplace training programme aimed at improving social, communication and emotional behaviours can be helpful for people with autism and intellectual disability. Further study with a larger sample size and a control group is recommended. The development of specific programme to cater for the emotional control needs at workplace for people with autism is also suggested. Copyright (c) 2013 John Wiley & Sons, Ltd.
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15. Macdonald M, Lord C, Ulrich DA. {{The relationship of motor skills and social communicative skills in school-aged children with autism spectrum disorder}}. {Adapt Phys Activ Q};2013 (Jul);30(3):271-282.
Motor skill deficits are present and persist in school-aged children with autism spectrum disorder (ASD; Staples & Reid, 2010). Yet the focus of intervention is on core impairments, which are part of the diagnostic criteria for ASD, deficits in social communication skills. The purpose of this study is to determine whether the functional motor skills, of 6- to 15-year-old children with high-functioning ASD, predict success in standardized social communicative skills. It is hypothesized that children with better motor skills will have better social communicative skills. A total of 35 children with ASD between the ages of 6-15 years participated in this study. The univariate GLM (general linear model) tested the relationship of motor skills on social communicative skills holding constant age, IQ, ethnicity, gender, and clinical ASD diagnosis. Object-control motor skills significantly predicted calibrated ASD severity (p < .05). Children with weaker motor skills have greater social communicative skill deficits. How this relationship exists behaviorally, needs to be explored further.
16. Mandy W, Roughan L, Skuse D. {{Three Dimensions of Oppositionality in Autism Spectrum Disorder}}. {J Abnorm Child Psychol};2013 (Jul 17)
In autism spectrum disorder (ASD), symptoms of oppositional defiant disorder (ODD) are common but poorly understood. DSM-5 has adopted a tripartite model of ODD, parsing its features into ‘angry and irritable symptoms’ (AIS), ‘argumentative and defiant behavior’ (ADB) and ‘vindictiveness’. This was based on findings in non-autistic populations that each of these dimensions of oppositionality has a distinct constellation of associations with internalising and externalising psychopathology. We applied the tripartite DSM-5 ODD model to ASD to test its generalisability beyond non-ASD populations; and to elucidate the nature of ODD symptoms in ASD. Participants were 216 verbally-fluent young people (mean age = 9.6 years, range 3.0 to 16.2 years, 82 % male) with ASD. Cross-sectional parent-and teacher-report data were analysed using bootstrap multiple regression to test the following predictions, derived from studies of non-ASD young people: (1) AIS will be the main predictor of internalising problems; (2) ADB will be the main predictor of ADHD symptoms; (3) all ODD traits will independently predict conduct disorder symptoms; (4) vindictiveness will be the main predictor of aggressive conduct problems. Our findings using both parent and teacher data were consistent with the non-ASD ODD literature. AIS were associated with internalising but not externalising problems; ADB and vindictiveness were associated with externalising but not internalising problems; and vindictiveness was the main predictor of aggression. The DSM-5 tripartite model of ODD appears to be generalisable to ASD: for people with an autistic disorder, AIS, ADB and vindictive dimensions of oppositionality have distinct associations with concurrent psychopathology, suggesting the need to assess them as separate constructs.
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17. Marschik PB, Vollmann R, Bartl-Pokorny KD, Green VA, van der Meer L, Wolin T, Einspieler C. {{Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years. Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences. Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality. Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.
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18. Pasterski V, Gilligan L, Curtis R. {{Traits of Autism Spectrum Disorders in Adults with Gender Dysphoria}}. {Arch Sex Behav};2013 (Jul 18)
The literature examining the co-occurrence of gender dysphoria (GD) and autistic traits has so far been limited to a series of small case studies and two systematic studies, one looking at autistic traits in gender dysphoric children and the other set within the context of the extreme male brain hypothesis and looking at adults. The current study examined this co-occurrence of GD and autistic traits in an adult population, to see whether this heightened prevalence persisted from childhood as well as to provide further comparison of MtF versus FtM transsexuals and homosexual versus nonhomosexual individuals. Using the Autistic Spectrum Quotient (AQ), 91 GD adults (63 male-to-female [MtF] and 28 female-to-male [FtM]) undertaking treatment at a gender clinic completed the AQ. The prevalence of autistic traits consistent with a clinical diagnosis for an autism spectrum disorder (ASD) was 5.5 % (n = 3 MtF and n = 2 FtM) compared to reports of clinical diagnoses of 0.5-2.0 % in the general population. In contrast to the single previous report in adults, there was no significant difference between MtF and FtM on AQ scores; however, all of those who scored above the clinical cut-off were classified as nonhomosexual with respect to natal sex. Results were considered in the context of emerging theories for the observed co-occurrence of GD and autistic traits.
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19. Reese RM, Jamison R, Wendland M, Fleming K, Braun MJ, Schuttler JO, Turek J. {{Evaluating Interactive Videoconferencing for Assessing Symptoms of Autism}}. {Telemed J E Health};2013 (Jul 19)
Abstract Background: Autism affects as many as 1 in 88 children. Best practices recommend early identification and intervention for optimal outcomes. Currently, a gap exists between time of first concern and diagnosis, particularly for families living in rural areas. Telemedicine as a tool for assessment and diagnosis of autism is one way to address this disparity. Emerging evidence suggests telemedicine as a viable option for assessing children with a variety of special needs. Materials and Methods: This study expands upon the current literature by investigating clinicians’ ability to assess autism via telemedicine. Using interactive videoconferencing, we simulated autism assessment procedures with families with an existing diagnosis (autism or developmental disability) using current gold-standard assessment tools. We compared diagnostic accuracy, item-by-item reliability on the Autism Diagnostic Observation Schedule (ADOS)-Module 1, and the Autism Diagnostic Interview-Revised (ADI-R) as well as parent satisfaction in an in-person and interactive videoconferencing condition. Ten children (3-5 years old) with developmental delays and 11 children matched on chronological age with a diagnosis of autism were assigned to be assessed and interviewed either in-person or over videoconferencing. Clinicians observed both in-person and through videoconferencing regardless of patient assignment. Results: Results indicated no significant difference in reliability of diagnostic accuracy, ADOS observations, ratings for ADI-R parent report of symptoms, and parent satisfaction between conditions. Results indicate adequate clinician agreement and parent satisfaction regardless of observational condition. Conclusions: Future research should include a larger sample size and assess children without an existing diagnosis.
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20. Rieske RD, Matson JL, Beighley JS, Cervantes PE, Goldin RL, Jang J. {{Comorbid psychopathology rates in children diagnosed with autism spectrum disorders according to the DSM-IV-TR and the proposed DSM-5}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To investigate differences in comorbid psychopathology rates between individuals who meet criteria of Autism Spectrum Disorders (ASDs) according to DSM-5 or the DSM-IV-TR. Methods: Comorbid psychopathology was measured using the Autism Spectrum Disorders- Comorbid for Children. 424 individuals between the ages of 2 and 18 years of age; including children who met criteria for an ASD according to the DSM-5, the DSM-IV-TR only, and a control group that did not meet either set of criteria. Results: Of the ASD participants, 36% would no longer meet criteria according to proposed DSM-5. Comorbidity rates for the ASD groups were significantly different from the control group; however, ASD groups were not significantly different in terms of total comorbid psychopathology. Conclusion: The results elucidate the need for further research regarding services and treatments for those individuals that will no longer meet criteria for an ASD but still have significant rates of comorbid psychopathology.
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21. Robel L, Rousselot-Pailley B, Fortin C, Levy-Rueff M, Golse B, Falissard B. {{Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism}}. {Eur Child Adolesc Psychiatry};2013 (Jul 18)
Autism is a categorical developmental disorder characterized by impairment in socialization, communication, and by restricted and circumscribed interests. Several authors have described the presence of subthreshold autistic traits in the general population, pervasive developmental disorders representing the extreme end of their distribution. In this study, we explored the presence of autistic traits in siblings and parents of a proband with autism, and in siblings and parents of a normally developing child, using the previously validated self-report French Autism Quotient, an adaptation of the AQ developed by S. Baron-Cohen. Scores were distributed between two main factors, F1 corresponding to socialization and communication, F2 to imagination and rigidity. Here, we show that both parents and siblings of a child with autism have more symptomatic scores in the domains of communication and socialization. In addition, we show that in these families the parents, but not the siblings, are distributed across different subcategories, according to their scores for the F1 and F2 domains. We hypothesize that these different subgroups may correspond to different underlying genetic mechanisms.
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22. Romero-Munguia MA. {{Theory of Mind Deficit versus Faulty Procedural Memory in Autism Spectrum Disorders}}. {Autism Res Treat};2013;2013:128264.
Individuals with autism spectrum disorders (ASD) have impairments in social interaction, communicative capacity, and behavioral flexibility (core triad). Three major cognitive theories (theory of mind deficit, weak central coherence, and executive dysfunction) seem to explain many of these impairments. Currently, however, the empathizing-systemizing (a newer version of the theory of mind deficit account) and mnesic imbalance theories are the only ones that attempt to explain all these core triadic symptoms of ASD On the other hand, theory of mind deficit in empathizing-systemizing theory is the most influential account for ASD, but its counterpart in the mnesic imbalance theory, faulty procedural memory, seems to occur earlier in development; consequently, this might be a better solution to the problem of the etiology of ASD, if it truly meets the precedence criterion. Hence, in the present paper I review the reasoning in favor of the theory of mind deficit but with a new interpretation based on the mnesic imbalance theory, which posits that faulty procedural memory causes deficits in several cognitive skills, resulting in poor performance in theory of mind tasks.
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23. Sheen V, Valencia IM, Torres AR. {{Atypical Features in MECP2 P152R-Associated Rett Syndrome}}. {Pediatr Neurol};2013 (Aug);49(2):124-126.
BACKGROUND: Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and seizures. Atypical forms of Rett such as those with preserved speech do not follow these characteristics. PATIENT: We report a 9-year-old girl with atypical Rett (macrocephaly, preserved speech, and psychiatric manifestations) with a 2MECP2 (P152R) mutation that generally is not associated with these clinical signs. CONCLUSION: This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
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24. Sheikh TI, Mittal K, Willis MJ, Vincent JB. {{A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient}}. {Orphanet J Rare Dis};2013 (Jul 19);8(1):108.
BACKGROUND: Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. METHODS: In silico analyses to predict the effects of sequence variation on mRNA splicing were employed, followed by sequencing and quantification of lymphocyte mRNAs from the subject for splice variants MECP2_E1 and MECP2_E2. RESULTS: Analysis of mRNA confirmed predictions that this synonymous mutation activates a splice-donor site at an early position in exon 1, leading to a deletion (r.[=, 48_63del]), codon frameshift and premature stop codon (p.Glu17Lysfs*16) for MECP2_E1. For MECP2_E2, the same premature splice site is used, but as this is located in the 5[prime]untranslated region, no effect on the amino acid sequence is predicted. Quantitative analysis that specifically measured this cryptic splice variant also revealed a significant decrease in the quantity of the correct MECP2_E1 transcript, which indicates that this is the etiologically significant mutation in this patient. CONCLUSION: These findings suggest that synonymous variants of MECP2 as well as other known disease genes—and de novo variants in particular— should be re-evaluated for potential effects on splicing.
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25. Taquet M, Peters JM. {{[The brain functional network of children with autism: redundancy and disconnection]}}. {Med Sci (Paris)};2013 (Jun-Jul);29(6-7):567-569.
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26. Torres EB, Isenhower RW, 3rd, Yanovich P, Rehrig G, Stigler KA, Nurnberger J, Jr., Jose JV. {{Strategies to develop putative biomarkers to characterize the female phenotype with Autism Spectrum Disorders}}. {J Neurophysiol};2013 (Jul 17)
Current observational inventories used to diagnose Autism Spectrum Disorders (ASD) apply similar criteria to females and males alike, despite developmental differences between the sexes. Recent work investigating the chronology of diagnosis in ASD has raised the concern that females run the risk of receiving a delayed diagnosis, potentially missing a window of opportunity for early intervention. Here we retake this issue in the context of the objective measurements of natural behaviors that involve decision making processes. Within this context, we quantified movement variability in typically developing (TD) individuals and those diagnosed with ASD, across different ages. We extracted the latencies of the decision movements and velocity-dependent parameters as the hand movements unfolded for two movement segments within the reach: movements intended towards the target and withdrawing movements that spontaneously, without instruction, occurred incidentally. The stochastic signatures of the movement decision latencies and the percent of time to maximum speed differed between males and females with ASD. This feature was also observed in the empirically estimated probability distributions of the maximum speed values, independent of limb size. Females with ASD showed different dispersion than males with ASD. The distinctions found for females with ASD were better appreciated when compared to those of TD females. In light of these results, behavioral assessment of autistic traits in females should be performed relative to TD females to increase the chance of detection.
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27. Tureck K, Matson JL, Cervantes P, Turygin N. {{Autism severity as a predictor of inattention and impulsivity in toddlers}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: Evaluate how severity of autism spectrum disorder (ASD) symptoms predicts attention-deficit/hyperactivity disorder (ADHD) symptoms in atypically developing toddlers. Method: Parents/caregivers of 2300 atypically developing toddlers’ ages 18-37 months were assessed about their children’s behaviours using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) Part 1 and the inattention/impulsivity subscale of the BISCUIT-Part 2. Results: ASD symptom severity was positively and significantly correlated with inattention/impulsivity, indicating that children with more severe symptoms of ASD tended to have higher scores on the measure of inattention/impulsivity, R2 = 0.49, F (1, 2298) = 2234.72, p < 0.001. Additionally, ASD symptom severity significantly predicted inattention/impulsivity, beta = 0.70, t (2298) = 47.27, p < 0.001. Conclusions: ASD symptom severity predicts rates of ADHD symptoms in atypically developing toddlers. The implications of these findings are discussed in the context of other research.
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28. Viscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM. {{Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy}}. {PLoS One};2013;8(7):e67797.
OBJECTIVES: To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD) and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population. METHODS: Cross-sectional study using four samples of children with ASD for a total of 5,815 participants with ASD. The prevalence of epilepsy was estimated from a population-based sample. Children with and without epilepsy were compared on demographic and clinical characteristics. Multivariate logistic regression was used to examine the association between demographic and clinical characteristics and epilepsy. RESULTS: The average prevalence of epilepsy in children with ASD 2-17 years was 12.5%; among children aged 13 years and older, 26% had epilepsy. Epilepsy was associated with older age, lower cognitive ability, poorer adaptive and language functioning, a history of developmental regression and more severe ASD symptoms. The association between epilepsy and the majority of these characteristics appears to be driven by the lower IQ of participants with epilepsy. In a multivariate regression model, only age and cognitive ability were independently associated with epilepsy. Children age 10 or older had 2.35 times the odds of being diagnosed with epilepsy (p<.001) and for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% (p<.001). CONCLUSION: This is among the largest studies to date of patients with ASD and co-occurring epilepsy. Based on a representative sample of children with ASD, the average prevalence of epilepsy is approximately 12% and reaches 26% by adolescence. Independent associations were found between epilepsy and older age and lower cognitive ability. Other risk factors, such as poor language and developmental regression, are not associated with epilepsy after controlling for IQ. These findings can help guide prognosis and alert clinicians to patients with ASD who are at increased risk for epilepsy.
