1. Arnett AB, Cairney BE, Wallace AS, Gerdts J, Turner TN, Eichler EE, Bernier RA. {{Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk}}. {J Child Psychol Psychiatry}. 2017.
BACKGROUND: Symptoms of autism spectrum disorder (ASD) and inattention (IA) are highly comorbid and associated with deficits in executive cognition. Cognitive deficits have been posited as candidate endophenotypes of psychiatric traits, but few studies have conceptualized cognitive deficits as psychiatric comorbidities. The latter model is consistent with a latent factor reflecting broader liability to neuropsychological dysfunction, and explains heterogeneity in the cognitive profile of individuals with ASD and IA. METHODS: We tested competing models of covariance among symptoms of ASD, IA, and cognition in a sample of 73 youth with a known genetic mutation. RESULTS: A common executive factor fit best as a cognitive comorbidity, rather than endophenotype, of the shared variance between measures of IA and ASD symptoms. Known genetic risk explained a third of the shared variance among psychiatric and cognitive measures. CONCLUSIONS: Comorbid symptoms of ASD, IA, and cognitive deficits are likely influenced by common neurogenetic factors. Known genetic risk in ASD may inform future investigation of putative genetic causes of IA.
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2. Brito A, Russo FB, Muotri AR, Beltrao-Braga PCB. {{Autism spectrum disorders and disease modeling using stem cells}}. {Cell Tissue Res}. 2017.
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others. Considering the variability of the clinical symptoms, one autistic individual can be severely affected in communication while others can speak perfectly, sometimes having a vocabulary above average in early childhood. The same variability can be seen in other clinical symptoms, thus the « spectrum » can vary from severe to mild. Induced pluripotent stem cell technology has been used to model several neurological diseases, including syndromic and non-syndromic autism. We discuss how modeling the central nervous system cells in a dish may help to reach a better understanding of ASD pathology and variability, as well as personalize their treatment.
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3. Bruno JL, Romano D, Mazaika P, Lightbody AA, Hazlett HC, Piven J, Reiss AL. {{Longitudinal identification of clinically distinct neurophenotypes in young children with fragile X syndrome}}. {Proc Natl Acad Sci U S A}. 2017.
Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2.89 y and 4.91 y. Topological data analysis (TDA), an unsupervised approach to multivariate pattern analysis, was applied to the longitudinal anatomical data to identify coherent but heretofore unknown subgroups. TDA revealed two large subgroups within the study population based solely on longitudinal MRI data. Post hoc comparisons of cognition, adaptive functioning, and autism severity scores between these groups demonstrated that one group was consistently higher functioning on all measures at both time points, with pronounced and significant unidirectional differences (P < 0.05 for time point 1 and/or time point 2 for each measure). These results support the existence of two longitudinally defined, neuroanatomically distinct, and clinically relevant phenotypes among boys with FXS. If confirmed by additional analyses, such information may be used to predict outcomes and guide design of targeted therapies. Furthermore, TDA of longitudinal anatomical MRI data may represent a useful method for reliably and objectively defining subtypes within other neuropsychiatric disorders. Lien vers le texte intégral (Open Access ou abonnement)
4. Collins PY, Pringle B, Alexander C, Darmstadt GL, Heymann J, Huebner G, Kutlesic V, Polk C, Sherr L, Shih A, Sretenov D, Zindel M. {{Global services and support for children with developmental delays and disabilities: Bridging research and policy gaps}}. {PLoS Med}. 2017; 14(9): e1002393.
Pamela Collins and colleagues explain the research and policy approaches needed globally to ensure children with developmental delays and disabilities are fully included in health and education services.
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5. Conner CM, White SW. {{Brief Report: Feasibility and Preliminary Efficacy of Individual Mindfulness Therapy for Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Intervention research on adults with autism spectrum disorder (ASD) is sparse. Many adults with ASD experience impaired emotion regulation (ER), which is thought to contribute to higher rates of psychiatric comorbidities among adults with ASD and indirect effects upon adaptive functioning, interpersonal relationships, and vocational status. The purpose of this study was to investigate feasibility and initial efficacy of an adapted mindfulness-based individual therapy targeting ER difficulties for adults with ASD. There is evidence for feasibility based on acceptable treatment fidelity and participant satisfaction ratings. Of nine participants, seven demonstrated improvement in at least one of the following domains; impulse control, access to ER strategies, and emotional acceptance. Further research is recommended, including additional timepoints and a clinical cutoff-derived sample.
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6. Finch KH, Tager-Flusberg H, Nelson CA. {{Neural responses to linguistic stimuli in children with and without autism spectrum disorder}}. {Eur J Neurosci}. 2017.
Atypical neural responses to language have been found in toddlers with autism spectrum disorder (ASD) and in their unaffected siblings. However, given that language difficulties are often seen in these children, it is difficult to interpret whether these neural differences are a result of the diagnosis of ASD or impairments in their language abilities. In this current study, we recorded event-related potentials (ERPs) from four groups of 36-month-olds: low-risk control (LRC), high-risk for ASD defined as having an older sibling with ASD (HRA) but who do not have ASD or milder autism-like symptoms (HRA-Typ), HRA children who do not have ASD but exhibit milder autism-like symptoms (HRA-Atyp), and HRA children diagnosed with ASD (ASD). Children listened to words expected to be acquired early (e.g. ball) and words expected to be acquired late (e.g. calf). ERPs were analyzed over time windows sensitive to word processing as well as frontal and temporo-parietal sites over the left and right hemisphere. When controlling for language abilities, there were group differences within the temporo-parietal sites. Specifically, the HRA-Atyp group showed a different timed response to late words compared to the ASD and LRC groups. In addition we found a relation between neural responses in the left frontal sites and ASD severity. Our results suggest that both language abilities and ASD diagnoses are important to consider when interpreting neural differences in lexical processing. This article is protected by copyright. All rights reserved.
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7. Guerini FR, Bolognesi E, Chiappedi M, Ripamonti E, Ghezzo A, Zanette M, Sotgiu S, Mensi MM, Carta A, Canevini MP, Zanzottera M, Agliardi C, Costa AS, Balottin U, Clerici M. {{HLA-G coding region polymorphism is skewed in autistic spectrum disorders}}. {Brain Behav Immun}. 2017.
Different isoforms of HLA-G protein are endowed with a differential ability to induce allogenic tolerance during pregnancy. As prenatal immune activation is suggested to play a role in the onset of autistic spectrum disorders (ASD), we evaluated HLA G*01:01-*01:06 allelic polymorphism in a cohort of Italian children affected by ASD (N=111) their mothers (N=81), and their healthy siblings (N=39). DNA sequencing analysis of HLA-G exon 2, 3 and 4 was used to obtain HLA-G allelic frequencies; alleles distribution was compared with that of two control groups of Caucasoid couples of multiparous women and their partners from Brazil and Denmark. HLA-G distribution was significantly different in ASD children compared to both control groups (Brazilian pc=1×10-4; Danish pc=1×10-3). Since HLA-G distribution was similar in the two control groups, their data were pooled. Results indicated that HLA-G*01:01 was significantly less frequent (pc=1×10-4; OR:0.5, 95%CI: 0.3-0.7) whereas HLA-G*01:05N was significantly more frequent (pc=2×10-3; OR:7.3, 95%CI: 2.4-26.6) in ASD children compared to combined controls. Finally, no clear pattern emerged when HLA-G allelic distribution was analyzed in healthy sibs. Notably, HLA-G allelic distribution found in ASD mothers was similar to that observed in the control subgroup of women with recurrent miscarriages, whilst it was significantly different compared to women without miscarriages (pc=6×10-4 df=12). Since HLA-G*01:01 is associated with the elicitation of KIR-mediated tolerogenic responses and HLA-G*01:05N correlates with NK cells activation, results herein indicate that an immune activating milieu during pregnancy is more likely observed in association with the development of ASD, similarly to what occurs in women with recurrent miscarriages.
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8. Johnson BS, Zhao YT, Fasolino M, Lamonica JM, Kim YJ, Georgakilas G, Wood KH, Bu D, Cui Y, Goffin D, Vahedi G, Kim TH, Zhou Z. {{Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome}}. {Nat Med}. 2017.
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT. Here we developed a Cre-inducible method for cell-type-specific biotin tagging of MeCP2 in mice. Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. We found that most gene-expression changes were largely specific to each RTT-associated mutation and cell type. Lowly expressed cell-type-enriched genes were preferentially disrupted by MeCP2 mutations, with upregulated and downregulated genes reflecting distinct functional categories. Subcellular RNA analysis in MeCP2-mutant neurons further revealed reductions in the nascent transcription of long genes and uncovered widespread post-transcriptional compensation at the cellular level. Finally, we overcame X-linked cellular mosaicism in female RTT models and identified distinct gene-expression changes between neighboring wild-type and mutant neurons, providing contextual insights into RTT etiology that support personalized therapeutic interventions.
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9. Kerin T, Volk H, Li W, Lurmann F, Eckel S, McConnell R, Hertz-Picciotto I. {{Association Between Air Pollution Exposure, Cognitive and Adaptive Function, and ASD Severity Among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Prenatal exposure to air pollution has been associated with autism spectrum disorder (ASD) risk but no study has examined associations with ASD severity or functioning. Cognitive ability, adaptive functioning, and ASD severity were assessed in 327 children with ASD from the Childhood Autism Risks from Genetics and the Environment study using the Mullen Scales of Early Learning (MSEL), the Vineland Adaptive Behavior Scales (VABS), and the Autism Diagnostic Observation Schedule calibrated severity score. Estimates of nitrogen dioxide (NO2), particulate matter (PM2.5 and PM10), ozone, and near-roadway air pollution were assigned to each trimester of pregnancy and first year of life. Increasing prenatal and first year NO2 exposures were associated with decreased MSEL and VABS scores. Increasing PM10 exposure in the third trimester was paradoxically associated with improved performance on the VABS. ASD severity was not associated with air pollution exposure.
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10. Lucas R, James AI. {{An Evaluation of Specialist Mentoring for University Students with Autism Spectrum Disorders and Mental Health Conditions}}. {J Autism Dev Disord}. 2017.
Mentoring is often recommended to universities as a way of supporting students with Autism Spectrum Disorders (ASD) and/or mental health conditions (MHC), but there is little literature on optimising this support. We used mixed-methods to evaluate mentees’ and mentors’ experiences of a specialist mentoring programme. Mentees experienced academic, social and emotional support, although subtle group differences emerged between students with ASD and MHC. The quality of the mentee-mentor relationship was especially important. Mentors also reported benefits. Thematic analysis identified that effective mentoring requires a tailored partnership, which involves a personal relationship, empowerment, and building bridges into the university experience. Mentoring can effectively support students with ASD and/or MHC, but this is highly dependent on the development of tailored mentee-mentor partnerships.
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11. Mundy P. {{A Review of Joint Attention and Social-Cognitive Brain Systems in Typical Development and Autism Spectrum Disorder}}. {Eur J Neurosci}. 2017.
This article provides a review of the increasingly detailed literature on the neurodevelopment of joint attention. Many findings from this literature support and inform the hypothesis that the neurodevelopment of joint attention contributes to the functional development of neural systems for human social cognition. Joint attention begins to develop by 5 months of age and is tantamount to the ability to adopt a common perspective with another person. It involves a whole-brain system with nodes in the: (a) dorsal and medial frontal cortex, (b) orbital frontal/insula cortex, (c) anterior/ posterior cingulate cortex, (d) superior temporal cortex, (e) precuneus/parietal cortex, and (f) amygdala and striatum. This system integrates triadic information processing about: (a) self-attention/action, (b) information about others’ attention/action during social interactions that involve, (c) coordinated attention as well as processing a common referent in space. The results of this new imaging literature have the potential to advance current models of social cognition and the social brain, which rarely consider the contribution of the cognitive neurodevelopment of joint attention. The new neuroscience of joint attention is also extremely valuable for clinical research on social-cognitive neurodevelopmental disorders. This is most clearly the case for autism spectrum disorder (ASD) because it is consistent with the hypothesis of substantial functional neurodevelopmental continuity between the preschool impairments of joint attention, and childhood theory of mind ability that characterize the development of ASD. This article is protected by copyright. All rights reserved.
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12. Parellada M, Llorente C, Calvo R, Gutierrez S, Lazaro L, Graell M, Guisasola M, Dorado ML, Boada L, Romo J, Dulin E, Sanz I, Arango C, Moreno C. {{Randomized trial of omega-3 for autism spectrum disorders: Effect on cell membrane composition and behavior}}. {Eur Neuropsychopharmacol}. 2017.
A high omega6/omega3 ratio [fatty acid (FA) index] in the cell membrane has been associated with inadequate brain development. It has started to be used as a biomarker of treatment efficacy in human diseases. The aim of this study was to investigate if omega-3 supplementation improves erythrocyte membrane omega6/omega3, plasma antioxidant status (TAS) and autistic behaviors. A randomized, crossover, placebo-controlled study was designed to investigate the effect of 8 weeks of supplementation with omega3 (962mg/d and 1155mg/d for children and adolescents, respectively). Sixty-eight children and adolescents with Autism Spectrum Disorders (ASD) completed the full protocol. Primary outcome measures were erythrocyte membrane FA composition and TAS. Secondary outcome measures were Social Responsiveness Scale and Clinical Global Impression-Severity. Treatment with omega3 improved the erythrocyte membrane omega6/omega3 ratio (treatment effect p<0.008, d=0.66; within subjects effect p<0.007, d=0.5) without changing TAS. There was a within subjects significant improvement in Social Motivation and Social Communication subscales scores, with a moderate to large effect size (p=0.004, d=0.73 and p=0.025, d=0.79 respectively), but no treatment effect (treatment-placebo order). Carryover effects cannot be discarded as responsible for the results in behavioral measures. In conclusion, supplementation with omega3 FA might be studied as an add-on to behavioral therapies in ASD. Optimal duration of treatment requires further investigation. With regard to side effects, the effect of this supplementation on the lipid profile needs monitoring. Lien vers le texte intégral (Open Access ou abonnement)
13. Pennington RC, Rockhold J. {{Brief Report: An Evaluation of an Instructional Package for Teaching Sentence Construction to Students with ASD}}. {J Autism Dev Disord}. 2017.
In the current study, we investigated the effects of an instructional package on the construction of sentences writing by four children ages 6-9, with autism spectrum disorder (ASD). We employed a multiple probe across behaviors design to evaluate the efficacy of the intervention package and also conducted probes to assess generalization and increases in the use of spoken sentences. Data indicated that the package was effective and produced variable levels of maintenance and generalized responding across three of the participants. Further, changes in vocal responding were observed in one of the participants.
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14. Rodgers JD, Lodi-Smith J, Hill PL, Spain SM, Lopata C, Thomeer ML. {{Brief Report: Personality Mediates the Relationship between Autism Quotient and Well-Being: A Conceptual Replication using Self-Report}}. {J Autism Dev Disord}. 2017.
Autism spectrum disorder (ASD) impacts well-being across the lifespan. Individuals with ASD evidence differences in personality traits and self-concept clarity that are predictors of well-being in typically-developing individuals. The current research replicates a growing body of evidence demonstrating differences in well-being and personality between individuals low in ASD characteristics (n = 207) and individuals high in ASD characteristics (n = 46) collected from the general population using an online survey. Results were consistent in a subsample of demographically matched pairs (n = 39 per group) and relative to norms. Further, the current research provides the first evidence that openness, conscientiousness, emotional stability, and self-concept clarity mediate the relationship between ASD characteristics and well-being.
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15. Semino S, Ring M, Bowler DM, Gaigg SB. {{The Influence of task Demands, Verbal Ability and Executive Functions on Item and Source Memory in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Autism Spectrum Disorder (ASD) is generally associated with difficulties in contextual source memory but not single item memory. There are surprising inconsistencies in the literature, however, that the current study seeks to address by examining item and source memory in age and ability matched groups of 22 ASD and 21 comparison adults. Results show that group differences in source memory are moderated by task demands but not by individual differences in verbal ability, executive function or item memory. By contrast, unexpected group differences in item memory could largely be explained by individual differences in source memory. These observations shed light on the factors underlying inconsistent findings in the memory literature in ASD, which has important implications for theory and practice.
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16. Thiemann-Bourque KS, McGuff S, Goldstein H. {{Training Peer Partners to Use a Speech-Generating Device With Classmates With Autism Spectrum Disorder: Exploring Communication Outcomes Across Preschool Contexts}}. {J Speech Lang Hear Res}. 2017; 60(9): 2648-62.
Purpose: This study examined effects of a peer-mediated intervention that provided training on the use of a speech-generating device for preschoolers with severe autism spectrum disorder (ASD) and peer partners. Method: Effects were examined using a multiple probe design across 3 children with ASD and limited to no verbal skills. Three peers without disabilities were taught to Stay, Play, and Talk using a GoTalk 4+ (Attainment Company) and were then paired up with a classmate with ASD in classroom social activities. Measures included rates of communication acts, communication mode and function, reciprocity, and engagement with peers. Results: Following peer training, intervention effects were replicated across 3 peers, who all demonstrated an increased level and upward trend in communication acts to their classmates with ASD. Outcomes also revealed moderate intervention effects and increased levels of peer-directed communication for 3 children with ASD in classroom centers. Additional analyses revealed higher rates of communication in the added context of preferred toys and snack. The children with ASD also demonstrated improved communication reciprocity and peer engagement. Conclusions: Results provide preliminary evidence on the benefits of combining peer-mediated and speech-generating device interventions to improve children’s communication. Furthermore, it appears that preferred contexts are likely to facilitate greater communication and social engagement with peers.
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17. Tin LNW, Lui SSY, Ho KKY, Hung KSY, Wang Y, Yeung HKH, Wong TY, Lam SM, Chan RCK, Cheung EFC. {{High-functioning autism patients share similar but more severe impairments in verbal theory of mind than schizophrenia patients}}. {Psychol Med}. 2017: 1-12.
BACKGROUND: Evidence suggests that autism and schizophrenia share similarities in genetic, neuropsychological and behavioural aspects. Although both disorders are associated with theory of mind (ToM) impairments, a few studies have directly compared ToM between autism patients and schizophrenia patients. This study aimed to investigate to what extent high-functioning autism patients and schizophrenia patients share and differ in ToM performance. METHODS: Thirty high-functioning autism patients, 30 schizophrenia patients and 30 healthy individuals were recruited. Participants were matched in age, gender and estimated intelligence quotient. The verbal-based Faux Pas Task and the visual-based Yoni Task were utilised to examine first- and higher-order, affective and cognitive ToM. The task/item difficulty of two paradigms was examined using mixed model analyses of variance (ANOVAs). Multiple ANOVAs and mixed model ANOVAs were used to examine group differences in ToM. RESULTS: The Faux Pas Task was more difficult than the Yoni Task. High-functioning autism patients showed more severely impaired verbal-based ToM in the Faux Pas Task, but shared similar visual-based ToM impairments in the Yoni Task with schizophrenia patients. CONCLUSIONS: The findings that individuals with high-functioning autism shared similar but more severe impairments in verbal ToM than individuals with schizophrenia support the autism-schizophrenia continuum. The finding that verbal-based but not visual-based ToM was more impaired in high-functioning autism patients than schizophrenia patients could be attributable to the varied task/item difficulty between the two paradigms.
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18. Travers BG, Mason AH, Mrotek LA, Ellertson A, Dean DC, 3rd, Engel C, Gomez A, Dadalko OI, McLaughlin K. {{Biofeedback-Based, Videogame Balance Training in Autism}}. {J Autism Dev Disord}. 2017.
The present study examined the effects of a visual-based biofeedback training on improving balance challenges in autism spectrum disorder (ASD). Twenty-nine youth with ASD (7-17 years) completed an intensive 6-week biofeedback-based videogame balance training. Participants exhibited training-related balance improvements that significantly accounted for postural-sway improvements outside of training. Participants perceived the training as beneficial and enjoyable. Significant moderators of training included milder stereotyped and ritualistic behaviors and better starting balance. Neither IQ nor BMI moderated training. These results suggest that biofeedback-based balance training is associated with balance improvements in youth with ASD, most robustly in those with less severe repetitive behaviors and better starting balance. The training was perceived as motivating, further suggesting its efficacy and likelihood of use.
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19. Uljarevic M, Richdale AL, McConachie H, Hedley D, Cai RY, Merrick H, Parr JR, Le Couteur A. {{The Hospital Anxiety and Depression scale: Factor structure and psychometric properties in older adolescents and young adults with autism spectrum disorder}}. {Autism Res}. 2017.
Despite the high frequency of anxiety and depression symptoms in individuals with Autism Spectrum Disorder (ASD) and a significant impact of these comorbidities on both individuals with ASD and their families, research on the validity of anxiety and depression measures in the ASD population is currently lacking. The aim of this study was to explore the psychometric properties of the Hospital Anxiety and Depression Scale [HADS; Zigmond & Snaith, ] in a sample of older adolescents and young adults with ASD. One hundred and fifty one participants (UK Transition longitudinal study: N = 106; 75 males, Mage = 16.04 years, SD = 1.28; Longitudinal Study of Australian Schools Leavers with ASD: N = 45, 30 males; Mage = 18.35 years, SD = 2.55) completed the HADS and a range of mental health and well-being measures. Combination of the Principal Component Analysis and Parallel Analysis indicated two factors as an optimal solution in our sample, accounting for 43.77% of variance with factors being identical in terms of content with the structure found in the general population. Internal consistency was good for the HADS anxiety scale (HADS-A; .82-.84) and acceptable for the HADS depression scale (HADS-D; .60-.72). Convergent validity of both HADS-A and HADS-D scales was excellent and divergent validity was acceptable. Our study represents a significant contribution to the literature by providing an initial validation of the HADS in older adolescents and younger adults with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Research on the validity of measurement of anxiety and depression in ASD is currently lacking. The aim of this study was to explore the properties of the Hospital Anxiety and Depression Scale (HADS) in a sample of 151 young people with ASD. Participants completed HADS and a range of mental health and well-being measures. Encouragingly, our findings suggest that HADS provides a reliable and valid assessment of anxiety and depression in ASD.
