1. Altunel A, Sever A, Altunel EO. {{ACTH has beneficial effects on stuttering in ADHD and ASD patients with ESES: A retrospective study}}. {Brain Dev};2016 (Sep 16)
INTRODUCTION: Etiology of stuttering remains unknown and no pharmacologic intervention has been approved for treatment. We aimed to evaluate EEG parameters and the effect of adrenocorticotropic hormone (ACTH) therapy in stuttering. METHODS: In this retrospective study, 25 patients with attention deficit and hyperactivity (ADHD) or autism spectrum disorder (ASD), and comorbid stuttering were followed and treated with ACTH for electrical status epilepticus in sleep (ESES). Sleep EEGs were recorded at referral and follow-up visits and short courses of ACTH were administered when spike-wave index (SWI) was 15%. The assessment of treatment effectiveness was based on reduction in SWI, and the clinician-reported improvement in stuttering, and ADHD or ASD. Statistical analyses were conducted in order to investigate the relationship between the clinical and EEG parameters. RESULTS: Following treatment with ACTH, a reduction in SWI in all the patients was accompanied by a 72% improvement in ADHD or ASD, and 83.8% improvement in stuttering. Twelve of the 25 patients with stuttering showed complete treatment response. Linear regressions established that SWI at final visit significantly predicted improvement in ADHD or ASD, and in stuttering. If symptoms had recurred, improvement was once again achieved with repeated ACTH therapies. Stuttering always improved prior to, and recurred following ADHD or ASD. CONCLUSION: The underlying etiology leading to ESES may play a significant role in the pathophysiology of stuttering and connect stuttering to other developmental disorders. ACTH therapy has beneficial effects on stuttering and improves EEG parameters.
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2. Baixauli I, Colomer C, Rosello B, Miranda A. {{Narratives of children with high-functioning autism spectrum disorder: A meta-analysis}}. {Res Dev Disabil};2016 (Sep 16);59:234-254.
BACKGROUND: The aim of this meta-analysis was to analyze the narrative performance of children and adolescents with high-functioning Autism Spectrum Disorders (ASD) in terms of microstructure, macrostructure and internal state language. METHOD: A systematic literature search yielded 24 studies that met the predetermined inclusion criteria. Effect sizes for each study were calculated for eight variables and analyzed using a random effects model. Intellectual ability, age and type of narrative were considered as potential moderators. RESULTS: Results revealed that the children with ASD performed significantly worse than their peers on all the variables considered. CONCLUSIONS: Findings are discussed taking into account the main explanatory psychological autism theories. Implications for intervention and orientations for future research are suggested.
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3. Byars SG, Boomsma JJ. {{Opposite differential risks for autism and schizophrenia based on maternal age, paternal age, and parental age differences}}. {Evol Med Public Health};2016;2016(1):286-298.
BACKGROUND AND OBJECTIVES: Effects of maternal and paternal age on offspring autism and schizophrenia risks have been studied for over three decades, but inconsistent risks have often been found, precluding well-informed speculation on why these age-related risks might exist. METHODOLOGY: To help clarify this situation we analysed a massive single population sample from Denmark including the full spectrum of autistic and schizophrenic disorders (eliminating between-study confounding), used up to 30 follow-up years, controlled for over 20 potentially confounding factors and interpret the ultimate causation of the observed risk patterns using generally accepted principles of parent-offspring conflict and life-history theory. RESULTS: We evaluated the effects of paternal age, maternal age and parental age difference on offspring mental disorders and found consistently similar risk patterns for related disorders and markedly different patterns between autistic and schizophrenic disorders. Older fathers and mothers both conferred increased risk for autistic but not schizophrenic disorders, but autism risk was reduced in younger parents and offspring of younger mothers had increased risk for many schizophrenic disorders. Risk for most disorders also increased when parents were more dissimilarly aged. Monotonically increasing autism risk is consistent with mutation accumulation as fathers’ age, but this explanation is invalid for schizophrenic disorders, which were not related to paternal age and were negatively correlated with maternal age. CONCLUSIONS AND IMPLICATIONS: We propose that the observed maternally induced risk patterns ultimately reflect a shifting ancestral life-history trade-off between current and future reproduction, mediated by an initially high but subsequently decreasing tendency to constrain foetal provisioning as women proceed from first to final pregnancy.
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4. Caplan B, Feldman M, Eisenhower A, Blacher J. {{Student-Teacher Relationships for Young Children with Autism Spectrum Disorder: Risk and Protective Factors}}. {J Autism Dev Disord};2016 (Sep 16)
The quality of early student-teacher relationships (STRs) has been shown to predict children’s school adjustment, and children with autism spectrum disorder (ASD) are at risk for poor quality STRs. The present study examined 162 children with ASD (ages 4-7) and their teachers to evaluate student, teacher, and classroom characteristics that predicted concurrent and prospective STR quality across one school year. Child oppositional behavior, autism severity and teacher degree predicted changes in student-teacher conflict over a 1-year period, while child social skills and IQ positively predicted change in student-teacher closeness. Teacher preparedness, trainings in ASD, and classroom setting were unrelated to STR quality. Implications for intervention are discussed.
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5. Chiang HL, Chen YJ, Lin HY, Tseng WI, Gau SS. {{Disorder-Specific Alteration in White Matter Structural Property in Adults With Autism Spectrum Disorder Relative to Adults With ADHD and Adult Controls}}. {Hum Brain Mapp};2016 (Sep 15)
OBJECTIVE: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are not only often comorbid but also overlapped in behavioral and cognitive abnormalities. Little is known about whether these shared phenotypes are based on common or different underlying neuropathologies. Therefore, this study aims to examine the disorder-specific alterations in white matter (WM) structural property. METHOD: The three comparison groups included 23 male adults with ASD (21.4 +/- 3.1 years), 32 male adults with ADHD (23.4 +/- 3.3 years), and 29 age-matched healthy male controls (22.4 +/- 3.3 years). After acquisition of the diffusion spectrum imaging (DSI), whole brain tractography was reconstructed by a tract-based automatic analysis. Generalized fractional anisotropy (GFA) values were computed to indicate tract-specific WM property with adjusted P value < 0.05 for false discovery rate correction. RESULTS: Post hoc analyses revealed that men with ASD exhibited significant lower GFA values than men with ADHD and male controls in six identified fiber tracts: the right arcuate fasciculus, right cingulum (hippocampal part), anterior commissure, and three callosal fibers (ventrolateral prefrontal cortex part, precentral part, superior temporal part). There was no significant difference in the GFA values of any of the fiber tracts between men with ADHD and controls. In men with ASD, the GFA values of the right arcuate fasciculus and right cingulum (hippocampal part) were negatively associated with autistic social-deficit symptoms, and the anterior commissure GFA value was positively correlated with intelligence. CONCLUSIONS: This study highlights the disorder-specific alteration of the microstructural property of WM tracts in male adults with ASD. Hum Brain Mapp, 2016. (c) 2016 Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
6. Clayton D, Green JL, Rinehart N, Sciberras E. {{Association Between Teacher-Reported Symptoms of Autism Spectrum Disorder and Child Functioning in Children With ADHD}}. {J Atten Disord};2016 (Sep 14)
OBJECTIVE: This study examined the association between autism spectrum disorder (ASD) symptom severity and academic outcomes and classroom functioning in a community-based sample of children with and without ADHD. METHOD: Participants included children with ADHD (n =179) and a non-ADHD group (n =212). ASD symptom severity, academic and learning skills, and classroom functioning were assessed via teacher report using the Social Skills Improvement System (SSIS; ASD and Academic Competence subscales) and the Strengths and Difficulties Questionnaire (SDQ; all subscales). RESULTS: Children with ADHD had higher teacher-reported ASD symptoms than children without ADHD (beta= .62, p< .001). Greater teacher-reported ASD symptoms were associated with more behavioral difficulties in the classroom for children with ADHD (beta= .50, p< .001). There was little evidence of an association between academic competence and ASD symptom severity in children with ADHD (beta= -.11, p = .15). CONCLUSION: ASD symptoms are associated with elevated classroom behavioral difficulties for children with ADHD. Lien vers le texte intégral (Open Access ou abonnement)
7. Cooper AS, Friedlaender E, Levy SE, Shekdar KV, Bradford AB, Wells KE, Mollen C. {{The Implications of Brain MRI in Autism Spectrum Disorder}}. {J Child Neurol};2016 (Sep 14)
Our objective was to describe the types of providers who refer children with autism spectrum disorder (ASD) for brain magnetic resonance imaging (MRI), the referral reason, and MRI results. The most common referral reasons were autism spectrum disorder with seizures (33.7%), autism spectrum disorder alone (26.3%), and autism spectrum disorder with abnormal neurologic examination or preexisting finding (24%). Neurology (62.5%), general pediatric (22.3%), and developmental/behavioral practitioners (8.9%) referred the most patients. The prevalence of definite pathology was highest in children referred for autism spectrum disorder with abnormal neurologic examination/preexisting finding (26.2%, 95% CI: 16.8%-36%), headaches (25.7%, 95% CI: 11.2%-40.2%), or seizures (22%, 95% CI: 14.6%-29.5%), and was lowest in children referred for autism spectrum disorder alone (6.5%, 95% CI: 1.5%-11.6%). We concluded that there is a low prevalence of definite pathology in children with autism spectrum disorder undergoing brain MRI. In children with abnormal neurologic examination or preexisting finding, seizures, or headaches, one may consider performing brain MRI given the higher prevalence of pathology.
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8. Dickerson AS, Rahbar MH, Pearson DA, Kirby RS, Bakian AV, Bilder DA, Harrington RA, Pettygrove S, Zahorodny WM, Moye LA, 3rd, Durkin M, Slay Wingate M. {{Autism spectrum disorder reporting in lower socioeconomic neighborhoods}}. {Autism};2016 (Sep 14)
Utilizing surveillance data from five sites participating in the Autism and Developmental Disabilities Monitoring Network, we investigated contributions of surveillance subject and census tract population sociodemographic characteristics on variation in autism spectrum disorder ascertainment and prevalence estimates from 2000 to 2008 using ordinal hierarchical models for 2489 tracts. Multivariable analyses showed a significant increase in ascertainment of autism spectrum disorder cases through both school and health sources, the optimal ascertainment scenario, for cases with college-educated mothers (adjusted odds ratio = 1.06, 95% confidence interval = 1.02-1.09). Results from our examination of sociodemographic factors of tract populations from which cases were drawn also showed that after controlling for other covariates, statistical significance remained for associations between optimal ascertainment and percentage of Hispanic residents (adjusted odds ratio = 0.93, 95% confidence interval = 0.88-0.99) and percentage of residents with at least a bachelor’s degree (adjusted odds ratio = 1.06, 95% confidence interval = 1.01-1.11). We identified sociodemographic factors associated with autism spectrum disorder prevalence estimates including race, ethnicity, education, and income. Determining which specific factors influence disparities is complicated; however, it appears that even in the presence of education, racial and ethnic disparities are still apparent. These results suggest disparities in access to autism spectrum disorder assessments and special education for autism spectrum disorder among ethnic groups may impact subsequent surveillance.
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9. Fitzpatrick P, Frazier JA, Cochran DM, Mitchell T, Coleman C, Schmidt RC. {{Impairments of Social Motor Synchrony Evident in Autism Spectrum Disorder}}. {Front Psychol};2016;7:1323.
Social interactions typically involve movements of the body that become synchronized over time and both intentional and spontaneous interactional synchrony have been found to be an essential part of successful human interaction. However, our understanding of the importance of temporal dimensions of social motor synchrony in social dysfunction is limited. Here, we used a pendulum coordination paradigm to assess dynamic, process-oriented measures of social motor synchrony in adolescents with and without autism spectrum disorder (ASD). Our data indicate that adolescents with ASD demonstrate less synchronization in both spontaneous and intentional interpersonal coordination. Coupled oscillator modeling suggests that ASD participants assembled a synchronization dynamic with a weaker coupling strength, which corresponds to a lower sensitivity and decreased attention to the movements of the other person, but do not demonstrate evidence of a delay in information transmission. The implication of these findings for isolating an ASD-specific social synchronization deficit that could serve as an objective, bio-behavioral marker is discussed.
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10. Freed D, Pevsner J. {{The Contribution of Mosaic Variants to Autism Spectrum Disorder}}. {PLoS Genet};2016 (Sep);12(9):e1006245.
De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired samples and analysis of de novo variants from whole-exome sequencing of 2,388 families. While we find little evidence for tissue-specific mosaic mutation, multi-tissue post-zygotic mutation (i.e. mosaicism) is frequent, with detectable mosaic variation comprising 5.4% of all de novo mutations. We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings (p = 0.003). We build a model of de novo variation incorporating mosaic variants and errors in classification of mosaic status and from this model we estimate that 33% of mosaic mutations in probands contribute to 5.1% of simplex ASD diagnoses (95% credible interval 1.3% to 8.9%). Our results indicate a contributory role for multi-tissue mosaic mutation in some individuals with an ASD diagnosis.
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11. Gilboa Y, Perlman S, Pode-Shakked N, Pode-Shakked B, Shrim A, Azaria-Lahav E, Dekel B, Yonath H, Berkenstadt M, Achiron R. {{Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism}}. {Prenat Diagn};2016 (Sep 16)
OBJECTIVE: The linkage between 17q12 microdeletions, renal anomalies and higher risk for neuro-developmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized hyperechogenic fetal kidneys leading to the diagnosis of 17q12 deletion syndrome and autistic spectrum disorder. METHODS: Over a period of nine years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and followed prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. RESULTS: Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long term follow up all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow up with regression of the renal hyper-echogenicity. CONCLUSIONS: We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 micro deletion and autistic spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention.
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12. Grecucci A, Rubicondo D, Siugzdaite R, Surian L, Job R. {{Uncovering the Social Deficits in the Autistic Brain. A Source-Based Morphometric Study}}. {Front Neurosci};2016;10:388.
Autism is a neurodevelopmental disorder that mainly affects social interaction and communication. Evidence from behavioral and functional MRI studies supports the hypothesis that dysfunctional mechanisms involving social brain structures play a major role in autistic symptomatology. However, the investigation of anatomical abnormalities in the brain of people with autism has led to inconsistent results. We investigated whether specific brain regions, known to display functional abnormalities in autism, may exhibit mutual and peculiar patterns of covariance in their gray-matter concentrations. We analyzed structural MRI images of 32 young men affected by autistic disorder (AD) and 50 healthy controls. Controls were matched for sex, age, handedness. IQ scores were also monitored to avoid confounding. A multivariate Source-Based Morphometry (SBM) was applied for the first time on AD and controls to detect maximally independent networks of gray matter. Group comparison revealed a gray-matter source that showed differences in AD compared to controls. This network includes broad temporal regions involved in social cognition and high-level visual processing, but also motor and executive areas of the frontal lobe. Notably, we found that gray matter differences, as reflected by SBM, significantly correlated with social and behavioral deficits displayed by AD individuals and encoded via the Autism Diagnostic Observation Schedule scores. These findings provide support for current hypotheses about the neural basis of atypical social and mental states information processing in autism.
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13. Hartman CA, Geurts HM, Franke B, Buitelaar JK, Rommelse NN. {{Changing ASD-ADHD symptom co-occurrence across the lifespan with adolescence as crucial time window: illustrating the need to go beyond childhood}}. {Neurosci Biobehav Rev};2016 (Sep 11)
Literature on the co-occurrence between Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) is strongly biased by a focus on childhood age. A review of the adolescent and adult literature was made on core and related symptoms of ADHD and ASD. In addition, an empirical approach was used including 17,173 ASD-ADHD symptom ratings from participants aged 0 to 84 years. Results indicate that ASD/ADHD constellations peak during adolescence and are lower in early childhood and old age. We hypothesize that on the border of the expected transition to independent adulthood, ASD and ADHD co-occur most because social adaptation and EF skills matter most. Lower correlations in childhood and older age may be due to more diffuse symptoms reflecting respectively still differentiating and de-differentiating EF functions. We plea for a strong research focus in adolescence which may -after early childhood- be a second crucial time window for catching-up pattern explaining more optimal outcomes. A full lifespan approach into old age.
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14. Jashar DT, Brennan LA, Barton ML, Fein D. {{Cognitive and Adaptive Skills in Toddlers Who Meet Criteria for Autism in DSM-IV but not DSM-5}}. {J Autism Dev Disord};2016 (Sep 14)
The current study compared adaptive and cognitive skills, and autism severity of toddlers with an autism spectrum disorder (ASD) diagnosis under DSM-IV but not DSM-5 criteria (DSM-IV only group) to those who met autism criteria under both diagnostic systems (DSM-5 group) and to those without ASD (non-ASD group). The toddlers in the DSM-IV only group were less delayed on various domains of adaptive (Communication, Socialization) and cognitive (Expressive and Receptive language, Fine Motor, Visual Reception) skills, and had less severe symptoms of ASD than the DSM-5 group. Thus, they might have the best potential for successful intervention. The DSM-IV only group did not differ from the non-ASD group in any adaptive or cognitive skills except for socialization skills, the hallmark of ASD.
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15. Kaartinen M, Puura K, Himanen SL, Nevalainen J, Hietanen JK. {{Autonomic Arousal Response Habituation to Social Stimuli Among Children with Asd}}. {J Autism Dev Disord};2016 (Sep 16)
Sustained autonomic arousal during eye contact could cause the impairments in eye contact behavior commonly seen in autism. The aim of the present study was to re-analyze the data from a study by Kaartinen et al. (J Autism Develop Disord 42(9):1917-1927, 2012) to investigate the habituation of autonomic arousal responses to repeated facial stimuli and the correlations between response habituation and social impairments among children with and without ASD. The results showed that among children with ASD, the smaller the habituation was, specifically in responses to a direct gaze, the more the child showed social impairments. The results imply that decreased autonomic arousal habituation to a direct gaze might play a role in the development of social impairments in autism.
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16. Kelly D. {{The Challenge of Assessing Response to Psychotropic Medication Trials in Very Young Children with Fragile X Syndrome: A Cautionary Note}}. {J Dev Behav Pediatr};2016 (Sep 16)
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17. Lewis AH, Hughes C, Foster M, Turner K. {{Management of prisoners with autism is not perfect but is improving}}. {BMJ};2016;354:i4881.
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18. McVey AJ, Dolan BK, Willar KS, Pleiss S, Karst JS, Casnar CL, Caiozzo C, Vogt EM, Gordon NS, Van Hecke AV. {{A Replication and Extension of the PEERS(R) for Young Adults Social Skills Intervention: Examining Effects on Social Skills and Social Anxiety in Young Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Sep 15)
Young adults with ASD experience difficulties with social skills, empathy, loneliness, and social anxiety. One intervention, PEERS(R) for Young Adults, shows promise in addressing these challenges. The present study replicated and extended the original study by recruiting a larger sample (N = 56), employing a gold standard ASD assessment tool, and examining changes in social anxiety utilizing a randomized controlled trial design. Results indicated improvements in social responsiveness (SSIS-RS SS, p = .006 and CPB, p = .005; SRS, p = .004), PEERS(R) knowledge (TYASSK, p = .001), empathy (EQ, p = .044), direct interactions (QSQ-YA, p = .059), and social anxiety (LSAS-SR, p = .019). Findings demonstrate further empirical support for the intervention for individuals with ASD.
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19. Overskeid G. {{Power and Autistic Traits}}. {Front Psychol};2016;7:1290.
Autistic traits can help people gain and sustain power, and has probably done so throughout history, says the present paper. A number of testable claims follow from this assumption. First, the powerful should have more autistic traits than others – which they do appear to have. Among other things, powerful people, and those with many autistic traits, tend to prefer solitary activities and are often aloof. Moreover, they are often rigid and socially insensitive, low on empathy and with low scores on the trait of agreeableness – and as a rule they do not have many friends. Both groups are also more self-centered than others, more honest, less submissive, more sensitive to slights, and with a stronger tendency to engage in abstract thinking. They tend to behave in bossy or dominant ways, and their moral judgment is more based on rules than on feelings. In addition to experimental evidence, I cite biographies showing that a surprising number of presidents, prime ministers and other powerful people seem to have had traits like those in question – and interestingly, in animals, leaders are often rigid and insensitive to group members’ needs and feelings, mostly acting the way they are themselves inclined to, not responding much to others. Problem solving is important in leadership, and people with many autistic traits appear often to be better thinkers than typical subjects with similar IQs. However, these and other congruities could be coincidences. Hence the question of whether traits the two groups have in common also have a common cause constitutes a strong test of the paper’s thesis – and a common cause does appear to exist, in the form of testosterone’s effects on the central nervous system. Finally, there is evidence that, other things equal, powerful men have more reproductive success than others. If men wielding power do indeed have more autistic traits than those less powerful, this will lead to, other things equal, such traits becoming more common – which can help explain the prevalence of autistic traits.
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20. Roberts JE, Tonnsen BL, McCary LM, Caravella KE, Shinkareva SV. {{Brief Report: Autism Symptoms in Infants with Fragile X Syndrome}}. {J Autism Dev Disord};2016 (Sep 14)
Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75 % of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53 % of 12-month infants with FXS fall in the « at risk » category compared to 17 and 6 % for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS.
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21. Shipton L, Lashewicz BM. {{Quality Group Home Care for Adults with Developmental Disabilities and/or Mental Health Disorders: Yearning for Understanding, Security and Freedom}}. {J Appl Res Intellect Disabil};2016 (Sep 15)
BACKGROUND: The purpose of this study was to uncover and understand factors influencing quality of care received by adults with developmental disabilities and/or mental health disorders living in group homes. METHODS: The present authors conducted a secondary analysis of data from nine focus group discussions with adults with developmental disabilities and/or mental health disorders, and their family and paid caregivers (N = 52). To focus the analysis, the present authors drew on the research literature to craft a model of quality of group home care using concepts of social inclusion and self-determination, and corresponding staff approaches that include active support and person-centred care. RESULTS: Social inclusion and self-determination for adults in group homes are facilitated by staff approaches and manifest in residents being understood and experiencing security and freedom. CONCLUSIONS: The present authors offer recommendations for group home resources, training, communication and outcome measures that promote residents’ being understood and experiencing security and freedom.
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22. Takesaki N, Kikuchi M, Yoshimura Y, Hiraishi H, Hasegawa C, Kaneda R, Nakatani H, Takahashi T, Mottron L, Minabe Y. {{The Contribution of Increased Gamma Band Connectivity to Visual Non-Verbal Reasoning in Autistic Children: A MEG Study}}. {PLoS One};2016;11(9):e0163133.
Some individuals with autism spectrum (AS) perform better on visual reasoning tasks than would be predicted by their general cognitive performance. In individuals with AS, mechanisms in the brain’s visual area that underlie visual processing play a more prominent role in visual reasoning tasks than they do in normal individuals. In addition, increased connectivity with the visual area is thought to be one of the neural bases of autistic visual cognitive abilities. However, the contribution of such brain connectivity to visual cognitive abilities is not well understood, particularly in children. In this study, we investigated how functional connectivity between the visual areas and higher-order regions, which is reflected by alpha, beta and gamma band oscillations, contributes to the performance of visual reasoning tasks in typically developing (TD) (n = 18) children and AS children (n = 18). Brain activity was measured using a custom child-sized magneto-encephalograph. Imaginary coherence analysis was used as a proxy to estimate the functional connectivity between the occipital and other areas of the brain. Stronger connectivity from the occipital area, as evidenced by higher imaginary coherence in the gamma band, was associated with higher performance in the AS children only. We observed no significant correlation between the alpha or beta bands imaginary coherence and performance in the both groups. Alpha and beta bands reflect top-down pathways, while gamma band oscillations reflect a bottom-up influence. Therefore, our results suggest that visual reasoning in AS children is at least partially based on an enhanced reliance on visual perception and increased bottom-up connectivity from the visual areas.
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23. Thomas BR, Lafasakis M, Spector V. {{Brief Report: Using Behavioral Skills Training to Teach Skateboarding Skills to a Child with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Sep 8)
The aim of this study was to evaluate the effects of behavioral skills training (BST) on the skateboarding skills of an 11-year-old male with autism spectrum disorder (ASD). BST was used in a multiple-probe across skills design to teach five target skateboarding skills. Imitation of an additional skill was also assessed outside of BST sessions. The overall percentage of correct skateboarding skills improved following BST. Performance gains were stable in probes across settings, and additional imitations increased across the study.
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24. Vaivre-Douret L, Boschi A, Cuny ML, Clouard C, Mosser A, Golse B, Philippe A, Bourgeois M, Boddaert N, Puget S. {{Kyste arachnoidien temporal gauche et troubles spécifiques des apprentissages associés a un trouble envahissant du développement non spécifié (TED-NoS) : apports d’une approche intégrative neuro-psychomotrice neuropsychologique, psychopathologique et neurochirurgicale à propos d’une observation chez un enfant (le cas Francois).}}. {Encephale};2016 (Sep 16)
Left temporal arachnoid cyst and specific learning disorders associated with pervasive developmental disorders – not otherwise specified (PDD-NOS): contributions of an integrative neuro-psychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (Francois). With DSM-IV and DSM-IV-TR, the terminology of pervasive developmental disorders (PDD) covers two main categories of infantile disorders: disorders of « strictly » autistic nature and pervasive developmental disorders – not otherwise specified (PDD-NOS). Under the terminology of multiple complex developmental disorder (MCDD), it is proposed to classify children presenting symptoms approaching the psychotic disharmonies and usually diagnosed as PDD-NOS. Such a category of developmental disorders is now included without nosographic distinction in the autistic spectrum in the Diagnostic and Statistical Manual of mental disorders (DSM-V). CASE REPORT: We are reporting a case report of a 6-year-old boy which shows a PDD-NoS/MCDD complex symptomatology type. This child presents multiple disorders: minor neurological signs (soft signs), neuro-psychomotor disorders, developmental coordination disorder (DCD), communication, thought, and regulation of emotions disorders, attention deficit disorders (ADD); in the presence of a high verbal intellectual potential, which makes it difficult to establish a clear diagnosis. A cerebral magnetic resonance imaging (MRI) was carried out due to the presence of minor neurological signs (soft signs) and of neurodevelopmental multiple disorders. The MRI revealed a voluminous arachnoid temporo-polar left cyst with a marked mass effect on the left temporal lobe. DISCUSSION: A neurosurgical intervention allowed to observe the gradual disappearance of the specific symptomatology (in particular soft signs, neuro-psychomotor functions and autistic symptoms) secondary to the interference of the cyst’s pressure with intracranial areas involving neurological and psychopathological abnormalities, underlying at the same time the reversibility of the disorders after decompression as demonstrated in some studies. There are always, with a quantitative and qualitative decrease, an emotional dysregulation, a DCD, an ADD as well as impairments in the executive functions. CONCLUSION: This clinical case underlines the necessity of an evaluation in a transdisciplinary way and to follow the developmental evolution of the child in order to focus adapted therapeutics. Furthermore, with neurodevelopmental disorders not specified, it is important to examine the presence of soft signs with standardized neuro-psychomotor assessment, and then, to propose an MRI investigation. To our knowledge, this is the first report in the literature with a school age child of an unusual association between a temporal arachnoid cyst associated with PDD-NOS/MCDD.
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25. Williams DM, Peng C, Wallace GL. {{Verbal Thinking and Inner Speech Use in Autism Spectrum Disorder}}. {Neuropsychol Rev};2016 (Sep 8)
The extent to which cognition is verbally mediated in neurotypical individuals is the subject of debate in cognitive neuropsychology, as well as philosophy and psychology. Studying « verbal thinking » in developmental/neuropsychological disorders provides a valuable opportunity to inform theory building, as well as clinical practice. In this paper, we provide a comprehensive, critical review of such studies among individuals with autism spectrum disorder (ASD). ASD involves severe social-communication deficits and limitations in cognitive/behavioural flexibility. The prevailing view in the field is that neither cognition nor behaviour is mediated verbally in ASD, and that this contributes to diagnostic features. However, our review suggests that, on the contrary, most studies to date actually find that among people with ASD cognitive task performance is either a) mediated verbally in a typical fashion, or b) not mediated verbally, but at no obvious cost to overall task performance. Overall though, these studies have methodological limitations and thus clear-cut conclusions are not possible at this stage. The aim of the review is to take stock of existing empirical findings, as well as to help develop the directions for future research that will resolve the many outstanding issues in this field.
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26. Yang WY, He F, Strack RL, Oh SY, Frazer M, Jaffrey SR, Todd PK, Disney MD. {{Small Molecule Recognition and Tools to Study Modulation of r(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome}}. {ACS Chem Biol};2016 (Sep 16);11(9):2456-2465.
RNA transcripts containing expanded nucleotide repeats cause many incurable diseases via various mechanisms. One such disorder, fragile X-associated tremor ataxia syndrome (FXTAS), is caused by a noncoding r(CGG) repeat expansion (r(CGG)(exp)) that (i) sequesters proteins involved in RNA metabolism in nuclear foci, causing dysregulation of alternative pre-mRNA splicing, and (ii) undergoes repeat associated non-ATG translation (RANT), which produces toxic homopolymeric proteins without using a start codon. Here, we describe the design of two small molecules that inhibit both modes of toxicity and the implementation of various tools to study perturbation of these cellular events. Competitive Chemical Cross Linking and Isolation by Pull Down (C-Chem-CLIP) established that compounds bind r(CGG)(exp) and defined small molecule occupancy of r(CGG)(exp) in cells, the first approach to do so. Using an RNA GFP mimic, r(CGG)(exp)-Spinach2, we observe that our optimal designed compound binds r(CGG)(exp) and affects RNA localization by disrupting preformed RNA foci. These events correlate with an improvement of pre-mRNA splicing defects caused by RNA gain of function. In addition, the compounds reduced levels of toxic homopolymeric proteins formed via RANT. Polysome profiling studies showed that small molecules decreased loading of polysomes onto r(CGG)(exp), explaining decreased translation.
