1. {{Association of Learning and Memory Calcineurin Binding Protein with Autism Spectrum Disorders}}. {J Coll Physicians Surg Pak};2017 (Feb);27(2):84-87.
OBJECTIVE: To determine the association of learning and memory calcineurin binding (CABIN1) protein with autism spectrum disorders. STUDY DESIGN: Cross-sectional comparative study. PLACE AND DURATION OF STUDY: The Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Saudi Arabia, from October 2013 to May 2014. METHODOLOGY: Serum levels of CABIN1 protein in 62 (64%) autistic male children were analysed and 35 (36%) age healthy children measured by using ELISA. The diagnosis of autism was made, based on the criteria of autism as defined in the DSM-IV. CARS (childhood autism rating scale) was used for the assessment of autistic severity. Data was analysed on SPSS version 21. Mann-Whitney U-test was used for comparisons of CABIN1 protein levels between the autistic and control groups at a p-value of <0.05. Spearman's correlation coefficient (r) was used to determine the relationships between different variables. RESULTS: There was no significant difference between the levels of CABIN1 between the 1.12 (0.01-8.8) pg/ml and healthy (1.51, 0.12-4.32) pg/ml in children. However, children with mild to moderate autism had higher CABIN1 protein level (1.27 pg/ml, 0.01-10.240) than children with severe autism (0.80 pg/ml, 0.01-4.25, p=0.145). In addition, there was no significant relationships among the serum level of CABIN1 protein, the CARS score, and age. CONCLUSION: CABIN1 protein level for children with autism was not significantly different from controls subjects as well as between children with mild to moderate and severe autism. Lien vers le texte intégral (Open Access ou abonnement)
2. Ansuini C, Podda J, Battaglia FM, Veneselli E, Becchio C. {{One hand, two hands, two people: Prospective sensorimotor control in children with autism}}. {Dev Cogn Neurosci};2017 (Mar 02)
Where grasps are made reveals how grasps are planned. The grasp height effect predicts that, when people take hold of an object to move it to a new position, the grasp height on the object is inversely related to the height of the target position. In the present study, we used this effect as a window into the prospective sensorimotor control of children with autism spectrum disorders without accompanying intellectual impairment. Participants were instructed to grasp a vertical cylinder and move it from a table (home position) to a shelf of varying height (target position). Depending on the conditions, they performed the task using only one hand (unimanual), two hands (bimanual), or with the help of a co-actor (joint). Comparison between the performance of typically developing children and children with autism revealed no group difference across tasks. We found, however, a significant influence of IQ on grasp height modulation in both groups. These results provide clear evidence against a general prospective sensorimotor planning deficit and suggest that at least some form of higher order planning is present in autism without accompanying intellectual impairment.
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3. Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH, McDonald-McGinn DM, Gaynor JW. {{Rates of autism and potential risk factors in children with congenital heart defects}}. {Congenit Heart Dis};2017 (Mar 16)
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders. DESIGN: Participants included 195 children with a history of congenital heart defects, who are followed in a large-scale longitudinal study. Measures included behavioral data from 4-year-old neurodevelopmental evaluations and parent-report data from a later annual follow-up. RESULTS: Using established cutoffs on an autism spectrum disorder screener, children with congenital heart defects showed higher rates of « possible » autism spectrum disorders than national rates, (Chi-square Test of Equal Proportions), all Ps < .05. A stepwise variable selection method was used to create a "best prediction model" and multivariable logistic regression was used to identify variables predicting diagnostic status. Factors associated with diagnostic risk included medical (delayed sternal closure, prematurity, positive genetic findings), behavioral (cognitive, language, attention issues), and individual (socioeconomic, cultural/racial) variables. ROC analyses identified a cutoff of 7 to maximize sensitivity/specificity based on parent-reported diagnosis. CONCLUSIONS: Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates. Findings highlight the need for referral to a specialist to assess the presence and severity of social-communication issues and congenital heart defects population-specific screening thresholds for children with concern for autism spectrum disorders. Lien vers le texte intégral (Open Access ou abonnement)
4. Berzhanskaya J, Phillips MA, Shen J, Colonnese MT. {{Erratum: Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome}}. {Sci Rep};2017 (Mar 15);7:44515.
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5. Dekker LP, van der Vegt EJ, van der Ende J, Tick N, Louwerse A, Maras A, Verhulst FC, Greaves-Lord K. {{Psychosexual Functioning of Cognitively-able Adolescents with Autism Spectrum Disorder Compared to Typically Developing Peers: The Development and Testing of the Teen Transition Inventory- a Self- and Parent Report Questionnaire on Psychosexual Functioning}}. {J Autism Dev Disord};2017 (Mar 16)
To gain further insight into psychosexual functioning, including behaviors, intrapersonal and interpersonal aspects, in adolescents with Autism Spectrum Disorder (ASD), comprehensive, multi-informant measures are needed. This study describes (1) the development of a new measure of psychosexual functioning in both parent- and self-reports (Teen Transition Inventory; TTI) covering all three domains of psychosexual functioning (i.e. psychosexual socialization, psychosexual selfhood, and sexual/intimate behavior). And (2) the initial testing of this instrument, comparing adolescents with ASD (n = 79 parent-report; n = 58 self-report) to Typically Developing (TD) adolescents (n = 131 parent-report; n = 91 self-report) while taking into account gender as a covariate. Results from both informants indicate more difficulties regarding psychosexual socialization and psychosexual selfhood in the ASD group. With regard to sexual/intimate behavior, only parents reported significantly more problems in adolescents with ASD.
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6. Di Martino A, O’Connor D, Chen B, Alaerts K, Anderson JS, Assaf M, Balsters JH, Baxter L, Beggiato A, Bernaerts S, Blanken LM, Bookheimer SY, Braden BB, Byrge L, Castellanos FX, Dapretto M, Delorme R, Fair DA, Fishman I, Fitzgerald J, Gallagher L, Keehn RJ, Kennedy DP, Lainhart JE, Luna B, Mostofsky SH, Muller RA, Nebel MB, Nigg JT, O’Hearn K, Solomon M, Toro R, Vaidya CJ, Wenderoth N, White T, Craddock RC, Lord C, Leventhal B, Milham MP. {{Enhancing studies of the connectome in autism using the autism brain imaging data exchange II}}. {Sci Data};2017 (Mar 14);4:170010.
The second iteration of the Autism Brain Imaging Data Exchange (ABIDE II) aims to enhance the scope of brain connectomics research in Autism Spectrum Disorder (ASD). Consistent with the initial ABIDE effort (ABIDE I), that released 1112 datasets in 2012, this new multisite open-data resource is an aggregate of resting state functional magnetic resonance imaging (MRI) and corresponding structural MRI and phenotypic datasets. ABIDE II includes datasets from an additional 487 individuals with ASD and 557 controls previously collected across 16 international institutions. The combination of ABIDE I and ABIDE II provides investigators with 2156 unique cross-sectional datasets allowing selection of samples for discovery and/or replication. This sample size can also facilitate the identification of neurobiological subgroups, as well as preliminary examinations of sex differences in ASD. Additionally, ABIDE II includes a range of psychiatric variables to inform our understanding of the neural correlates of co-occurring psychopathology; 284 diffusion imaging datasets are also included. It is anticipated that these enhancements will contribute to unraveling key sources of ASD heterogeneity.
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7. Eack SM, Wojtalik JA, Keshavan MS, Minshew NJ. {{Social-cognitive brain function and connectivity during visual perspective-taking in autism and schizophrenia}}. {Schizophr Res};2017 (Mar 10)
BACKGROUND: Autism spectrum disorder (ASD) and schizophrenia are neurodevelopmental conditions that are characterized by significant social impairment. Emerging genomic and neurobiological evidence has increasingly pointed to shared pathophysiologic mechanisms in the two disorders. Overlap in social impairment may reflect similar underlying neural dysfunction in social-cognitive brain networks, yet few studies have directly compared brain function and communication between those with ASD and schizophrenia. METHODS: Outpatients with schizophrenia (n=36), ASD (n=33), and healthy volunteers (n=37) completed a visual perspective-taking task during functional neuroimaging at 3T to assess similarities and differences in fronto-temporal brain function and connectivity during social-cognitive processing. Analyses employed general linear models to examine differences in amplitude of BOLD-signal response between disorder groups, and computed functional connectivity coefficients to investigate differences in the connectivity profiles of networks implicated in social cognition. RESULTS: Despite similar behavioral impairments, participants with ASD and schizophrenia evidenced distinct neural abnormalities during perspective-taking. Functional activation results indicated reduced temporo-parietal junction and medial prefrontal activity in ASD compared to schizophrenia (all Puncor<0.002). Functional connectivity analyses further revealed significantly greater local orbitofrontal connectivity in ASD than schizophrenia (all PFDR<0.028) during perspective-taking. Differences in brain activation and connectivity were unrelated to antipsychotic medication dose. CONCLUSIONS: Autism and schizophrenia are characterized by similar social-cognitive impairments that may stem from different underlying abnormalities in the functional organization and communication of the social brain. Lien vers le texte intégral (Open Access ou abonnement)
8. Evers K, Van Belle G, Steyaert J, Noens I, Wagemans J. {{Gaze-Contingent Display Changes as New Window on Analytical and Holistic Face Perception in Children With Autism Spectrum Disorder}}. {Child Dev};2017 (Mar 10)
The strength of holistic face perception in children with autism spectrum disorder (ASD) was evaluated by applying the gaze-contingent mask and window technique to a face matching and discrimination task in 6- to 14-year-old children with (n = 36) and without ASD (n = 47), and by examining fixation patterns. Behavioral results suggested a slower and less efficient face processing in the ASD sample compared with the matched control group. Comparing the moving mask and window conditions revealed a reduced holistic face processing bias in the younger age group but not in the older sample. Preferential viewing patterns revealed both similarities and differences between both participant groups.
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9. Fluegge K. {{Humoral immunity and autism spectrum disorders}}. {Immunol Lett};2017 (Mar 10)
Abnormal immune activation, particularly of a humoral nature, has consistently been described in the etiopathogenesis of autism spectrum disorders (ASD). In this journal, Mead and Ashwood (2015) reviewed immune abnormalities in autism and linked them to severity of classic autistic symptoms. However, there remains a lack of clarity as to how environmental risk factors in ASD may contribute to such immunophenotypes. The evidence presented herein highlights these immune deficits of a humoral nature in ASD. Moreover, aligned with prior research showing a link between chronic air pollution and suppression of humoral immunity, the author of this commentary has proposed that environmental exposure to pervasive air pollutants, particularly nitrous oxide (N2O), may target several anti-inflammatory biomarkers, including alpha 7 nicotinic acetylcholine receptor (alpha7nAChR) inhibition and stimulation of kappa opioid receptor (KOR) activity. Given that these physiological targets, in particular, may promote the oft-noted humoral immunophenotypes in ASD, including B cell survival and muted antibody responses, this correspondence supports an existing line of evidence that air pollution, and particularly exposure to environmental N2O, may be an important etiological risk factor in ASD.
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10. Gauducheau M, Lemaire-Mayo V, D’Amato FR, Oddi D, Crusio WE, Pietropaolo S. {{Age-specific autistic-like behaviors in heterozygous Fmr1-KO female mice}}. {Autism Res};2017 (Mar 16)
Fragile X syndrome (FXS) is a major developmental disorder and the most frequent monogenic cause of autism. Surprisingly, most existing studies on the Fmr1-KO mouse model for FXS have focused on males, although FX women, who are mostly heterozygous for the Fmr1 mutation, are known to exhibit several behavioral deficits, including autistic-like features. Furthermore, most animal research has been carried out on adults only; so that little is known about the age progression of the behavioral phenotype of Fmr1 mutants, which is a crucial issue to optimize the impact of therapeutic interventions. Here, we performed an extensive analysis of autistic-like social behaviors in heterozygous (HET) Fmr1-KO females and their WT littermates at different ages. No behavioral difference between HET and WT mice was observed at infancy, but some abnormalities in social interaction and communication were first detected at juvenile age. At adulthood some of these alterations disappeared, but avoidance of social novelty appeared, together with other FXS-relevant behavioral deficits, such as hyperactivity and reduced contextual fear response. Our data provide for the first time evidence for the presence of autistic-relevant behavioral abnormalities in Fmr1-HET female mice, demonstrating the utility of this mouse line to model autistic-like behaviors in both sexes. These results also highlight the importance of taking into account age differences when using the Fmr1-KO mouse model, suggesting that the early post-natal phases are the most promising target for preventive interventions and the adult age is the most appropriate to investigate the behavioral impact of potential therapies. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Gorker I, Gurkan H, Demir Ulusal S, Atli E, Ikbal Atli E. {{A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder}}. {Balkan J Med Genet};2016 (Dec 01);19(2):85-90.
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.
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12. Howsmon DP, Kruger U, Melnyk S, James SJ, Hahn J. {{Classification and adaptive behavior prediction of children with autism spectrum disorder based upon multivariate data analysis of markers of oxidative stress and DNA methylation}}. {PLoS Comput Biol};2017 (Mar);13(3):e1005385.
The number of diagnosed cases of Autism Spectrum Disorders (ASD) has increased dramatically over the last four decades; however, there is still considerable debate regarding the underlying pathophysiology of ASD. This lack of biological knowledge restricts diagnoses to be made based on behavioral observations and psychometric tools. However, physiological measurements should support these behavioral diagnoses in the future in order to enable earlier and more accurate diagnoses. Stepping towards this goal of incorporating biochemical data into ASD diagnosis, this paper analyzes measurements of metabolite concentrations of the folate-dependent one-carbon metabolism and transulfuration pathways taken from blood samples of 83 participants with ASD and 76 age-matched neurotypical peers. Fisher Discriminant Analysis enables multivariate classification of the participants as on the spectrum or neurotypical which results in 96.1% of all neurotypical participants being correctly identified as such while still correctly identifying 97.6% of the ASD cohort. Furthermore, kernel partial least squares is used to predict adaptive behavior, as measured by the Vineland Adaptive Behavior Composite score, where measurement of five metabolites of the pathways was sufficient to predict the Vineland score with an R2 of 0.45 after cross-validation. This level of accuracy for classification as well as severity prediction far exceeds any other approach in this field and is a strong indicator that the metabolites under consideration are strongly correlated with an ASD diagnosis but also that the statistical analysis used here offers tremendous potential for extracting important information from complex biochemical data sets.
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13. Hurtubise K, Carpenter C. {{Learning Experiences and Strategies of Parents of Young Children with Developmental Disabilities: Implications for Rehabilitation Professionals}}. {Phys Occup Ther Pediatr};2017 (Mar 15):1-14.
AIM: To better understand the learning experiences of parents of children with developmental disabilities and the strategies they develop to support their caregiving role. METHODS: A qualitative secondary analysis of in-depth interviews with parents of children with developmental disability was conducted to better understand parents’ learning experiences and the strategies they developed to use this learning in supporting their children. A foundational thematic analysis process was used to identify the main themes, and the interpretive process was influenced by adult education theories. RESULTS: Findings suggest that participants are highly motivated to learn by a need to understand, to do, and to belong. They also demonstrated varying levels of cognitive, affective, and psychomotor learning. Learning style preferences are evident in participants’ narratives and in their self-reported learning strategies. CONCLUSIONS: Conceptualizing parents, as adult learners, can be helpful in designing clinical interactions and education initiatives. Knowledge of adult learning principles may enable pediatric therapists to better meet the needs of parents and fulfill their information sharing responsibilities.
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14. Jargin SV. {{Child Abuse, Autism Specrum Disorder and Alcohol Overconsumption: Possible Cause-Effect Relationships}}. {Psychiatr Danub};2017 (Mar);29(1):94-95.
15. Karaminis T, Lunghi C, Neil L, Burr D, Pellicano E. {{Binocular rivalry in children on the autism spectrum}}. {Autism Res};2017 (Mar 16)
When different images are presented to the eyes, the brain is faced with ambiguity, causing perceptual bistability: visual perception continuously alternates between the monocular images, a phenomenon called binocular rivalry. Many models of rivalry suggest that its temporal dynamics depend on mutual inhibition among neurons representing competing images. These models predict that rivalry should be different in autism, which has been proposed to present an atypical ratio of excitation and inhibition [the E/I imbalance hypothesis; Rubenstein & Merzenich, 2003]. In line with this prediction, some recent studies have provided evidence for atypical binocular rivalry dynamics in autistic adults. In this study, we examined if these findings generalize to autistic children. We developed a child-friendly binocular rivalry paradigm, which included two types of stimuli, low- and high-complexity, and compared rivalry dynamics in groups of autistic and age- and intellectual ability-matched typical children. Unexpectedly, the two groups of children presented the same number of perceptual transitions and the same mean phase durations (times perceiving one of the two stimuli). Yet autistic children reported mixed percepts for a shorter proportion of time (a difference which was in the opposite direction to previous adult studies), while elevated autistic symptomatology was associated with shorter mixed perception periods. Rivalry in the two groups was affected similarly by stimulus type, and consistent with previous findings. Our results suggest that rivalry dynamics are differentially affected in adults and developing autistic children and could be accounted for by hierarchical models of binocular rivalry, including both inhibition and top-down influences. Autism Res 2017. (c)2017 International Society for Autism Research, Wiley Periodicals, Inc.
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16. Kaub-Wittemer D, Hall DA, Kumpf U, Padberg F, Schneider SA. {{Fragile X-associated tremor ataxia syndrome presenting as chronic fatigue syndrome}}. {Parkinsonism Relat Disord};2017 (Mar 07)
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17. Krishnan V, Stoppel DC, Nong Y, Johnson MA, Nadler MJ, Ozkaynak E, Teng BL, Nagakura I, Mohammad F, Silva MA, Peterson S, Cruz TJ, Kasper EM, Arnaout R, Anderson MP. {{Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1}}. {Nature};2017 (Mar 15)
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase with transcriptional co-regulatory functions. Here, using in vivo mouse genetics, we show that increasing UBE3A in the nucleus downregulates the glutamatergic synapse organizer Cbln1, which is needed for sociability in mice. Epileptic seizures also repress Cbln1 and are found to expose sociability impairments in mice with asymptomatic increases in UBE3A. This Ube3a-seizure synergy maps to glutamate neurons of the midbrain ventral tegmental area (VTA), where Cbln1 deletions impair sociability and weaken glutamatergic transmission. We provide preclinical evidence that viral-vector-based chemogenetic activation of, or restoration of Cbln1 in, VTA glutamatergic neurons reverses the sociability deficits induced by Ube3a and/or seizures. Our results suggest that gene and seizure interactions in VTA glutamatergic neurons impair sociability by downregulating Cbln1, a key node in the expanding protein interaction network of autism genes.
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18. Kucukkose M, Kabukcu Basay B. {{[Acute Dystonia due to Aripiprazole Use in Two Children with Autism Spectrum Disorder in the First Five Years of Life]}}. {Turk Psikiyatri Derg};2017 (Spring);28(1):71-73.
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients. Aripiprazole is a partial agonist for the dopamine D2, serotonin 5-HT1A receptors, and an antagonist for 5HT2A receptors. Because aripiprazole is a partial agonist, it has been is speculated that aripiprazole has a protective effect for extrapyramidal side effects, movement disorders, and metabolic problems. But the increased use in children and adolescents is associated with an increase in the number of case reports related with such problems. Nevertheless, our review of the literature uncovered limited data regarding the association between acute dystonia and aripiprazole use in ASD children under five years of age is. In this paper, we present two cases of autistic spectrum disorder children with ages under 5 years that developed acute dystonia taking aripiprazole.
19. Lemonnier E, Villeneuve N, Sonie S, Serret S, Rosier A, Roue M, Brosset P, Viellard M, Bernoux D, Rondeau S, Thummler S, Ravel D, Ben-Ari Y. {{Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders}}. {Transl Psychiatry};2017 (Mar 14);7(3):e1056.
In animal models of autism spectrum disorder (ASD), the NKCC1 chloride-importer inhibitor bumetanide restores physiological (Cl-)i levels, enhances GABAergic inhibition and attenuates electrical and behavioral symptoms of ASD. In an earlier phase 2 trial; bumetanide reduced the severity of ASD in children and adolescents (3-11 years old). Here we report the results of a multicenter phase 2B study primarily to assess dose/response and safety effects of bumetanide. Efficacy outcome measures included the Childhood Autism Rating Scale (CARS), the Social Responsive Scale (SRS) and the Clinical Global Impressions (CGI) Improvement scale (CGI-I). Eighty-eight patients with ASD spanning across the entire pediatric population (2-18 years old) were subdivided in four age groups and randomized to receive bumetanide (0.5, 1.0 or 2.0 mg twice daily) or placebo for 3 months. The mean CARS value was significantly improved in the completers group (P: 0.015). Also, 23 treated children had more than a six-point improvement in the CARS compared with only one placebo-treated individual. Bumetanide significantly improved CGI (P: 0.0043) and the SRS score by more than 10 points (P: 0.02). The most frequent adverse events were hypokalemia, increased urine elimination, loss of appetite, dehydration and asthenia. Hypokalemia occurred mainly at the beginning of the treatment at 1.0 and 2.0 mg twice-daily doses and improved gradually with oral potassium supplements. The frequency and incidence of adverse event were directly correlated with the dose of bumetanide. Therefore, bumetanide improves the core symptoms of ASD and presents a favorable benefit/risk ratio particularly at 1.0 mg twice daily.
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20. Lin SK, Tsai CH, Li HJ, Huang CY, Chen KL. {{Theory of mind predominantly associated with the quality, not quantity, of pretend play in children with autism spectrum disorder}}. {Eur Child Adolesc Psychiatry};2017 (Mar 16)
This study aimed to clarify the relationships between theory of mind and pretend play in children with autism spectrum disorder, using refined assessments of theory of mind and pretend play while controlling for autistic behaviors and verbal comprehension. A total of 92 children with autism spectrum disorder aged 4-10 years were enrolled. In two visits, the children were assessed with the Theory of Mind Task Battery, the Child-Initiated Pretend Play Assessment, the Childhood Autism Rating Scale, and the Verbal Comprehension Index of the Wechsler Intelligence Scales, respectively, for their theory of mind, pretend play performance, autistic behaviors, and verbal comprehension. The hierarchical regression models showed that in addition to the contributions of the autistic behaviors and verbal comprehension scores, the theory of mind scores positively predicted (p < 0.001) the elaborateness scores of pretend play in the conventional imaginative and symbolic play contexts, respectively, accounting for an additional 8.1 and 18.5% of the variance, but did not predict the scores for number of object substitutions or imitated actions. The findings demonstrate that theory of mind has a predominant role in the quality, not the quantity, of pretend play of children with autism spectrum disorder, when the children's autistic behaviors and verbal comprehension are considered. This study fills a gap in the previous literature and provides information useful for clinicians and researchers on the relationships between theory of mind and pretend play in children with autism spectrum disorder. Lien vers le texte intégral (Open Access ou abonnement)
21. Lussu M, Noto A, Masili A, Rinaldi AC, Dessi A, De Angelis M, De Giacomo A, Fanos V, Atzori L, Francavilla R. {{The urinary 1 H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings}}. {Autism Res};2017 (Mar 11)
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of 1 H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients. A multivariate model has been used to extrapolate the variables of importance. The discriminating urinary metabolites were identified; in particular, significantly increased levels of hippurate, glycine, creatine, tryptophan, and d-threitol and decreased concentrations of glutamate, creatinine, lactate, valine, betaine, and taurine were observed in ASD patients. Based on the identified discriminant metabolites, the attention was focused on two possible mechanisms that could be involved in ASD: oxidative stress conditions and gut microflora modifications. In conclusion, nuclear magnetic resonance-based metabolomics analysis of the urine seems to have the potential for the identification of a metabolic fingerprint of ASD phenotypes and appears to be suitable for further investigation of the disease mechanisms. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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22. MacFarlane H, Gorman K, Ingham R, Presmanes Hill A, Papadakis K, Kiss G, van Santen J. {{Quantitative analysis of disfluency in children with autism spectrum disorder or language impairment}}. {PLoS One};2017;12(3):e0173936.
Deficits in social communication, particularly pragmatic language, are characteristic of individuals with autism spectrum disorder (ASD). Speech disfluencies may serve pragmatic functions such as cueing speaking problems. Previous studies have found that speakers with ASD differ from typically developing (TD) speakers in the types and patterns of disfluencies they produce, but fail to provide sufficiently detailed characterizations of the methods used to categorize and quantify disfluency, making cross-study comparison difficult. In this study we propose a simple schema for classifying major disfluency types, and use this schema in an exploratory analysis of differences in disfluency rates and patterns among children with ASD compared to TD and language impaired (SLI) groups. 115 children ages 4-8 participated in the study (ASD = 51; SLI = 20; TD = 44), completing a battery of experimental tasks and assessments. Measures of morphological and syntactic complexity, as well as word and disfluency counts, were derived from transcripts of the Autism Diagnostic Observation Schedule (ADOS). High inter-annotator agreement was obtained with the use of the proposed schema. Analyses showed ASD children produced a higher ratio of content to filler disfluencies than TD children. Relative frequencies of repetitions, revisions, and false starts did not differ significantly between groups. TD children also produced more cued disfluencies than ASD children.
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23. Marler S, Ferguson BJ, Lee EB, Peters B, Williams KC, McDonnell E, Macklin EA, Levitt P, Margolis KG, Beversdorf DQ, Veenstra-VanderWeele J. {{Association of Rigid-Compulsive Behavior with Functional Constipation in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 13)
Based upon checklist data from the Autism Speaks Autism Treatment Network, we hypothesized that functional constipation (FC) would be associated with rigid-compulsive behavior in children with autism spectrum disorder (ASD). We used the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III to assess FC symptoms in 108 children with ASD. As hypothesized, FC was associated with parent ratings on the Repetitive Behavior Scales-Revised (RBS-R) Compulsive, Ritualistic, and Sameness subscales in the overall population. Of note, FC was less common in children who were not taking medications that target behavior or treat FC. In the medication-free children, rigid-compulsive behavior was not significantly associated with FC. More research is needed to understand the mechanisms underlying these associations.
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24. Mason RA, Schnitz AG, Wills HP, Rosenbloom R, Kamps DM, Bast D. {{Impact of a Teacher-as-Coach Model: Improving Paraprofessionals Fidelity of Implementation of Discrete Trial Training for Students with Moderate-to-Severe Developmental Disabilities}}. {J Autism Dev Disord};2017 (Mar 14)
Ensuring educational progress for students with moderate-to-severe developmental disabilities requires exposure to well executed evidence-based practices. This necessitates that the special education workforce, including paraprofessionals, be well-trained. Yet evidence regarding effective training mechanisms for paraprofessionals is limited. A multiple baseline design across five teachers was used to evaluate the impact of online instructional modules and a Practice-Based Coaching (PBC) model with teacher-as-coach on their paraprofessionals’ fidelity of discrete trial training (DTT). Implementation of the instructional modules yielded little to no change in paraprofessionals’ DTT fidelity, however, a clear functional relation between PBC and improvement in paraprofessionals’ fidelity of implementation of DTT was demonstrated. Implications for future research and practice are discussed.
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25. McPhee PG, Gorter JW. {{A life course approach to increase physical activity in individuals with Rett syndrome}}. {Dev Med Child Neurol};2017 (Mar 11)
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26. Mouridsen SE, Rich B, Isager T. {{Eye Disorders among Adult People Diagnosed with Infantile Autism in Childhood: A Longitudinal Case Control Study}}. {Ophthalmic Epidemiol};2017 (Mar 15):1-4.
PURPOSE: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population. METHODS: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period. RESULTS: The overall prevalence of any eye disorder was 15.3% (18/118) in cases with IA, compared to 10.1% (34/336) in controls (p = 0.18). Refraction and accommodation disorders were significantly associated with IA: 7.6% (9/118) vs 1.2% (4/336) (p = 0.001). The rate of eye disorder was particularly high (24.5%) in those with a co-occurring profound or severe learning disability (IQ < 50). CONCLUSIONS: Refraction and accommodation disorders were more frequently present in Danish adults with IA, particularly when a profound or severe learning disability was co-present. The increased prevalence of eye disorders in participants with a severe or profound learning disability, and the fact that people with IA do not necessarily realize the presence of a vision deficit, necessitates increased ophthalmological attention. Lien vers le texte intégral (Open Access ou abonnement)
27. Mpaka DM, Okitundu DL, Ndjukendi AO, N’Situ A M, Kinsala SY, Mukau JE, Ngoma VM, Kashala-Abotnes E, Ma-Miezi-Mampunza S, Vogels A, Steyaert J. {{Prevalence and comorbidities of autism among children referred to the outpatient clinics for neurodevelopmental disorders}}. {Pan Afr Med J};2016;25:82.
INTRODUCTION: Autism spectrum disorders (ASD) is a neurodevelopmental disorder that has been rarely diagnosed in Sub-Saharan Africa. Although a proportion of children do present features of ASD in the Democratic Republic of Congo (DRC), little is known about it prevalence. Often, the co-morbidities constitute the upfront symptoms and therefore may it recognition and management difficult, aggravating as such the prognosis. The present study therefore aimed at studying the clinical profile of autism spectrum disorder (ASD) and the associated morbidities among children and adolescents in outpatient clinics in Kinshasa, the Democratic Republic of Congo. METHODS: We conducted a cross sectional study in the three outpatients centers receiving patients referred for neurodevelopmental disorders in Kinshasa, DRC, from June 2008 to June 2010. A total of 450 subjects aged from 1-18 years old were referred and included in the study. The clinical diagnosis for ASD was made using the DSM-IV-R and the ADIR. Co-morbidities were identified using DSM-IV-R criteria together with an extensive clinical interview and observation. All patients were subject to an intellectual quotient evaluation and an electroencephalogram reporting. RESULTS: Of the 450 subjects referred, 120 (29.3%) received the diagnosis of ASD, with boys outnumbering girls (OR 3:1. The mean age was 7.9 years (SD 3.4) (p< 0.001). Intellectual disability (75.83 %) and epilepsy (72.50%) were the main co-morbidities significantly associated with autism (p< 0.001). It was also found that co-morbidities were most frequent in subjects with an IQ<70 (p=0.05). CONCLUSION: ASD is frequent among patients referred for neurodevelopmental disorders in the three outpatients' centers for neurodevelopmental disorders in Kinshasa. Males seem to be more affected than female. The main co-morbidities were epilepsy and intellectual disabilities. Our findings suggest that it is important to screen for ASD and co-morbidities among all subjects referred for neurodevelopmental disorders and to undertake survey on ASD in various structures of rejected children from the society in Kinshasa DRC. This will help to identify and manage ASD and associated co-morbidities at an early stage for a better prognosis. Lien vers le texte intégral (Open Access ou abonnement)
28. Murray K, Johnston K, Cunane H, Kerr C, Spain D, Gillan N, Hammond N, Murphy D, Happe F. {{A new test of advanced theory of mind: The « Strange Stories Film Task » captures social processing differences in adults with autism spectrum disorders}}. {Autism Res};2017 (Mar 11)
Real-life social processing abilities of adults with autism spectrum disorders (ASD) can be hard to capture in lab-based experimental tasks. A novel measure of social cognition, the « Strange Stories Film task’ (SSFt), was designed to overcome limitations of available measures in the field. Brief films were made based on the scenarios from the Strange Stories task (Happe) and designed to capture the subtle social-cognitive difficulties observed in ASD adults. Twenty neurotypical adults were recruited to pilot the new measure. A final test set was produced and administered to a group of 20 adults with ASD and 20 matched controls, alongside established social cognition tasks and questionnaire measures of empathy, alexithymia and ASD traits. The SSFt was more effective than existing measures at differentiating the ASD group from the control group. In the ASD group, the SSFt was associated with the Strange Stories task. The SSFt is a potentially useful tool to identify social cognitive dis/abilities in ASD, with preliminary evidence of adequate convergent validity. Future research directions are discussed. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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29. Naguy A. {{Successful Use of Sertindole for Severe Behavioral Dyscontrol in a Pediatric Case of Syndromic Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2017 (Mar 15)
Autism spectrum disorder (ASD) is commonly associated with a host of challenging behaviors. Pharmacotherapy is indicated if psychosocial and educational interventions fail. Atypical antipsychotics have the strongest evidence base so far, with both risperidone and aripiprazole being FDA approved. Unfortunately, their use is fraught with metabolic and neurohormonal side effects. In this study, the author is reporting on a case of syndromic ASD/moderate intellectual disability with severe behavioral component that failed multiple psychotropic trials and ultimately responded dramatically to sertindole. Sertindole reversed metabolic derangements and was highly tolerated. This is one of earliest cases to report use of sertindole in autism. This might open new venues in such complicated cases.
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30. Naigles LR, Johnson R, Mastergeorge A, Ozonoff S, Rogers SJ, Amaral DG, Nordahl CW. {{Neural correlates of language variability in preschool-aged boys with autism spectrum disorder}}. {Autism Res};2017 (Mar 16)
Children with autism vary widely in their language abilities, yet the neural correlates of this language variability remain unclear, especially early in development. Diffusion tensor imaging (DTI) was used to examine diffusivity measures along the length of 18 major fiber tracts in 104 preschool-aged boys with autism spectrum disorder (ASD). The boys were assigned to subgroups according to their level of language development (Low: no/low language, Middle: small vocabulary, High: large vocabulary and grammar), based on their raw scores on the expressive language (EL) and receptive language (RL) sections of the Mullen Scales of Early Learning (MSEL). Results indicate that the subgroups differed in fractional anisotropy (FA), mean diffusivity (MD), and radial diffusivity (RD) along the inferior longitudinal fasciculus (ILF) in both hemispheres. Moreover, FA correlated significantly with Mullen EL and RL raw scores, but not ADOS severity score, along the left and right ILF. Subgroups also differed in MD (but not FA) along the left superior longitudinal fasiculus and left corticospinal tract, but these differences were not correlated with language scores. These findings suggest that white matter microstructure in the left and right ILF varies in relation to lexical development in young males with ASD. The findings also support the use of raw scores on language-relevant standardized tests for assessing early language-brain relationships. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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31. Nathenson RA, Zablotsky B. {{The Transition to the Adult Health Care System Among Youths With Autism Spectrum Disorder}}. {Psychiatr Serv};2017 (Mar 15):appips201600239.
OBJECTIVE: The study examined how health care utilization patterns among youths with autism spectrum disorder (ASD) change as they transition into the adult health care system. METHODS: Data came from the Clinformatics Data Mart Database, a nationally diverse, clinically rich, private insurance claims database. The analytic sample consisted of youths ages 16 to 23 who were diagnosed as having ASD (N=16,338). Cross-sectional multivariate linear regressions determined whether service usage in home, office or outpatient, inpatient, and emergency department (ED) settings differed by age. RESULTS: The proportion of youths with ASD who received services declined with age in each setting except the ED. A similar reduction existed in number of visits to office or outpatient settings and inpatient settings, while home and ED visits remained stable. Service utilization declined faster among youths with co-occurring intellectual disability. CONCLUSIONS: There is a notable decline in service utilization across multiple settings as youths with ASD transition from pediatric to adult health care.
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32. Northrup JB, Libertus K, Iverson JM. {{Response to changing contingencies in infants at high and low risk for autism spectrum disorder}}. {Autism Res};2017 (Mar 16)
One recently proposed theory of autism spectrum disorder (ASD) hypothesizes that individuals with the disorder may have difficulty using prior experiences to predict future events [Hellendoorn et al., 2015; Northrup, 2016; Sinha et al., 2014]. To date, this theory has not been tested in infancy. The current study analyzed how young infants at heightened (HR; older sibling with ASD) vs. low risk (LR; no first degree relatives with ASD) for ASD responded to changing contingencies when interacting with two visually identical rattles-one that produced sounds during shaking (Sound), and one that did not (Silent). Infants were given the rattles in a Sound-Silent-Sound order at 6 and 10 months, and shaking behavior was coded. Results indicated that LR and HR infants (regardless of ASD diagnosis) did not differ from each other in shaking behavior at 6 months. However, by 10 months, LR infants demonstrated high initial shaking with all three rattles, indicating expectations for rattle affordances, while HR infants did not. Significantly, HR infants, and particularly those with an eventual ASD diagnosis, did not demonstrate an « extinction burst »-or high level of shaking-in the first 10 sec with the « silent » rattle, indicating that they may have difficulty generalizing learning from one interaction to the next. Further, individual differences in the strength of this « extinction burst » predicted cognitive development in toddlerhood among HR infants. Difficulty forming expectations for new interactions based on previous experiences could impact learning and behavior in a number of domains. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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33. Onay H, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B. {{Mutation analysis of the NRXN1 gene in autism spectrum disorders}}. {Balkan J Med Genet};2016 (Dec 01);19(2):17-22.
The aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.
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34. Page SC, Hamersky GR, Gallo RA, Rannals MD, Calcaterra NE, Campbell MN, Mayfield B, Briley A, Phan BN, Jaffe AE, Maher BJ. {{The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner}}. {Mol Psychiatry};2017 (Mar 14)
Disruption of the laminar and columnar organization of the brain is implicated in several psychiatric disorders. Here, we show in utero gain-of-function of the psychiatric risk gene transcription factor 4 (TCF4) severely disrupts the columnar organization of medial prefrontal cortex (mPFC) in a transcription- and activity-dependent manner. This morphological phenotype was rescued by co-expression of TCF4 plus calmodulin in a calcium-dependent manner and by dampening neuronal excitability through co-expression of an inwardly rectifying potassium channel (Kir2.1). For we believe the first time, we show that N-methyl-d-aspartate (NMDA) receptor-dependent Ca2+ transients are instructive to minicolumn organization because Crispr/Cas9-mediated mutation of NMDA receptors rescued TCF4-dependent morphological phenotypes. Furthermore, we demonstrate that the transcriptional regulation by the psychiatric risk gene TCF4 enhances NMDA receptor-dependent early network oscillations. Our novel findings indicate that TCF4-dependent transcription directs the proper formation of prefrontal cortical minicolumns by regulating the expression of genes involved in early spontaneous neuronal activity, and thus our results provides insights into potential pathophysiological mechanisms of TCF4-associated psychiatric disorders.Molecular Psychiatry advance online publication, 14 March 2017; doi:10.1038/mp.2017.37.
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35. Reynoso C, Rangel MJ, Melgar V. {{[Autism spectrum disorder: Etiological, diagnostic and therapeutic aspects]}}. {Rev Med Inst Mex Seguro Soc};2017 (Mar-Apr);55(2):214-222.
Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity. The etiology is multifactorial and includes functional and structural neurological abnormalities, some of them with putative genetic and/or epigenetic origin. There is an alarming lack of knowledge in the subject among health care professionals. The purpose of this systematic review is to summarize the most relevant historical, diagnostic and therapeutic aspects of ASD.
36. Siper PM, Kolevzon A, Wang AT, Buxbaum JD, Tavassoli T. {{A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD}}. {Autism Res};2017 (Mar 11)
Sensory reactivity, including hyperreactivity, hyporeactivity, and sensation seeking, is a new criterion for autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). However, there is no consensus on how to reliably measure sensory reactivity, particularly in minimally verbal individuals. The current study is an initial validation of the Sensory Assessment for Neurodevelopmental Disorders (SAND), a novel clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on DSM-5 criteria for ASD. DSM-5 criteria of sensory hyperreactivity, hyporeactivity, and seeking behaviors are measured across visual, auditory, and tactile domains. Children with ASD showed significantly more sensory reactivity symptoms compared to typically developing (TD) children across sensory domains (visual, tactile, and auditory) and within each sensory subtype (hyperreactivity, hyporeactivity, and seeking). Psychometric properties including internal consistency, inter-rater reliability, test-retest reliability, and convergent validity were all strong. The SAND provides a novel method to characterize sensory reactivity symptoms based on DSM-5 criteria for ASD. This is the first known sensory assessment that combines a clinician-administered observation and caregiver interview to optimally capture sensory phenotypes characteristic of individuals with neurodevelopmental disorders. The SAND offers a beneficial new tool for both research and clinical purposes and has the potential to meaningfully enhance gold-standard assessment of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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37. Swanson MR, Shen MD, Wolff JJ, Boyd B, Clements M, Rehg J, Elison JT, Paterson S, Parish-Morris J, Chappell JC, Hazlett HC, Emerson RW, Botteron K, Pandey J, Schultz RT, Dager SR, Zwaigenbaum L, Estes AM, Piven J. {{Naturalistic Language Recordings Reveal « Hypervocal » Infants at High Familial Risk for Autism}}. {Child Dev};2017 (Mar 10)
Children’s early language environments are related to later development. Little is known about this association in siblings of children with autism spectrum disorder (ASD), who often experience language delays or have ASD. Fifty-nine 9-month-old infants at high or low familial risk for ASD contributed full-day in-home language recordings. High-risk infants produced more vocalizations than low-risk peers; conversational turns and adult words did not differ by group. Vocalization differences were driven by a subgroup of « hypervocal » infants. Despite more vocalizations overall, these infants engaged in less social babbling during a standardized clinic assessment, and they experienced fewer conversational turns relative to their rate of vocalizations. Two ways in which these individual and environmental differences may relate to subsequent development are discussed.
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38. Uljarevic M, Hedley D, Alvares GA, Varcin KJ, Whitehouse AJ. {{Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder}}. {Autism Res};2017 (Mar 16)
This study explored the relationships between the later age of achievement of early motor milestones, current motor atypicalities (toe walking), and the severity of restricted and repetitive behaviors (RRBs) in individuals with autism spectrum disorder (ASD). Parents of 147 children and adolescents with ASD (Mage = 8.09 years, SD = 4.28; 119 males) completed an early developmental milestones questionnaire and the Social Responsiveness Scale as a measure of Insistence on Sameness (IS) and Repetitive Mannerisms (RM). Two hierarchical regression analyses were conducted to test whether RM and IS behaviors were predicted by early motor milestones, or current toe walking. The final model predicting RM accounted for 15% of the variance (F = 3.02, p = .009), with toe walking as a unique and independent predictor of RM scores (t = 3.568, p = .001). The final model predicting IS accounted for 19.1% of variance in IS scores (F = 4.045, p = .001), with chronological age (CA) (t = 2.92, p = .004), age when first standing (t = 2.09, p = .038), and toe walking (t = 2.53, p = .013) as unique independent predictors. Toe walking (t = 2.4, p = .018) and age when first sitting (t = 2.08, p = .04) predicted the severity of RRBs on the Autism Diagnostic Observation Schedule (F = 2.334, p = .036). Our study replicates previous findings on the relationship between concurrent motor impairments and RRBs, and provides the first evidence for the association between RRBs and age of attainment of early motor milestones. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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39. Veatch OJ, Sutcliffe JS, Warren ZE, Keenan BT, Potter MH, Malow BA. {{Shorter sleep duration is associated with social impairment and comorbidities in ASD}}. {Autism Res};2017 (Mar 16)
Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and other related comorbidities. Understanding the causes and consequences of sleep disturbances in children with ASD is an important step toward mitigating these symptoms. To better understand the connection between sleep duration and ASD severity, we analyzed ASD-related symptoms using the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), IQ scores, and parent reports of the average amount of time slept per night that were available in the medical histories of 2,714 children with ASD in the Simons Simplex Collection (SSC). The mean (SD) sleep duration was 555 minutes. Sleep duration and severity of core ASD symptoms were negatively correlated, and sleep duration and IQ scores were positively correlated. Regression results indicated that more severe social impairment, primarily a failure to develop peer relationships, is the core symptom most strongly associated with short sleep duration. Furthermore, increased severity for numerous maladaptive behaviors assessed on the Child Behavior Checklist, as well as reports of attention deficit disorder, depressive disorder, and obsessive compulsive disorder were associated with short sleep duration. Severity scores for social/communication impairment and restricted and repetitive behaviors (RRB) were increased, and IQ scores were decreased, for children reported to sleep /=660 minutes (upper 95th percentile). Our results indicate that reduced amounts of sleep are related to more severe symptoms in children with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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40. Voorspoels W, Rutten I, Bartlema A, Tuerlinckx F, Vanpaemel W. {{Sensitivity to the prototype in children with high-functioning autism spectrum disorder: An example of Bayesian cognitive psychometrics}}. {Psychon Bull Rev};2017 (Mar 13)
We present a case study of hierarchical Bayesian explanatory cognitive psychometrics, examining information processing characteristics of individuals with high-functioning autism spectrum disorder (HFASD). On the basis of previously published data, we compare the classification behavior of a group of children with HFASD with that of typically developing (TD) controls using a computational model of categorization. The parameters in the model reflect characteristics of information processing that are theoretically related to HFASD. Because we expect individual differences in the model’s parameters, as well as differences between HFASD and TD children, we use a hierarchical explanatory approach. A first analysis suggests that children with HFASD are less sensitive to the prototype. A second analysis, involving a mixture component, reveals that the computational model is not appropriate for a subgroup of participants, which implies parameter estimates are not informative for these children. Focusing only on the children for whom the prototype model is appropriate, no clear difference in sensitivity between HFASD and TD children is inferred.
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41. Wang X, Liang S, Sun Y, Li H, Endo F, Nakao M, Saitoh N, Wu L. {{Analysis of estrogen receptor beta gene methylation in autistic males in a Chinese Han population}}. {Metab Brain Dis};2017 (Mar 16)
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients. Here, we explored the possible epigenetic regulation of the ESR2 gene in autism. We collected genomic DNA from the peripheral blood of Chinese Han males with autism and age-matched normal males and measured DNA methylation of CpG islands in the ESR2 gene, which consisted of 41 CpG sites among the proximal promoter region and an untranslated exon, by bisulfite sequencing. We also investigated a relationship between DNA methylation and phenotypic features of autism, as assessed by the Children Autism Rating Scale. We found little overall difference in the DNA methylation of the ESR2 5′-flanking region in individuals with autism compared with normal individuals. However, detailed analyses revealed that eight specific CpG sites were hypermethylated in autistic individuals and that four specific CpG sites were positively associated with the severity of autistic symptoms. Our study indicates that the epigenetic dysregulation of ESR2 may govern the development of autism.
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42. Wise EA, Smith MD, Rabins PV. {{Aging and Autism Spectrum Disorder: A Naturalistic, Longitudinal Study of the Comorbidities and Behavioral and Neuropsychiatric Symptoms in Adults with ASD}}. {J Autism Dev Disord};2017 (Mar 16)
Little is known about Autism Spectrum Disorder (ASD) in persons over age 50. In a retrospective, naturalistic review of 74 individuals aged 30 and older meeting DSM-5 criteria for ASD, the point prevalence of behavioral and neuropsychiatric symptoms (BNPS) declined significantly for 12 of 13 BNPS over a mean of 25 years while many other features of ASD remained stable. GI disorders (68.9%) and seizure disorders (23%) were common, and 25.7% of the sample had a BMI >30. Females were more likely to engage in screaming (p < 0.05) and oppositional behavior (p < 0.05). Current age did not have a significant effect on BNPS prevalence. Lien vers le texte intégral (Open Access ou abonnement)
43. Wolff N, Chmielewski WX, Beste C, Roessner V. {{Working memory load affects repetitive behaviour but not cognitive flexibility in adolescent autism spectrum disorder}}. {World J Biol Psychiatry};2017 (Mar 16):1-12.
OBJECTIVES: Autism spectrum disorder (ASD) is associated with repetitive and stereotyped behaviour, suggesting that cognitive flexibility may be deficient in ASD. A central, yet not examined aspect to understand possible deficits in flexible behaviour in ASD relates (i) to the role of working memory and (ii) to neurophysiological mechanisms underlying behavioural modulations. METHODS: We analysed behavioural and neurophysiological (EEG) correlates of cognitive flexibility using a task-switching paradigm with and without working memory load in adolescents with ASD and typically developing controls (TD). RESULTS: Adolescents with ASD versus TD show similar performance in task switching with no memory load, indicating that ‘pure’ cognitive flexibility is not in deficit in adolescent ASD. However performance during task repetition decreases with increasing memory load. Neurophysiological data reflect the pattern of behavioural effects, showing modulations in P2 and P3 event-related potentials. CONCLUSIONS: Working memory demands affect repetitive behaviour while processes of cognitive flexibility are unaffected. Effects emerge due to deficits in preparatory attentional processes and deficits in task rule activation, organisation and implementation of task sets when repetitive behaviour is concerned. It may be speculated that the habitual response mode in ASD (i.e. repetitive behaviour) is particularly vulnerable to additional demands on executive control processes.
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44. Woodbury-Smith M, Bilder DA, Morgan J, Jerominski L, Darlington T, Dyer T, Paterson AD, Coon H. {{Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families}}. {J Neurodev Disord};2017;9:5.
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. RESULTS: We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). CONCLUSIONS: Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD.
