1. {{Every child with an autism spectrum condition has specific needs}}. {Emerg Nurse};2017 (Jul 13);25(4):5.
Autism is a lifelong developmental disability that affects perceptions of the world and interactions with other people. About 700,000 people, or one in 100, live with an autism spectrum condition (ASC) in the UK and there is greater prevalence among males.
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2. Amaral DG. {{Examining the Causes of Autism}}. {Cerebrum};2017 (Jan-Feb);2017
Autism is a broad, complex, and increasingly important brain disorder. New data from the Center for Disease Control and Prevention indicate that one in sixty-eight children is born with some degree of autism. Autism is also more common in males by a four to one ratio. Making it especially difficult to discuss in finite, conclusive terms is the fact that there is no biological test for autism; diagnosis is based on behavior, and the only verified treatment is intensive behavior therapy. Our author, one of the nation’s foremost researchers on autism, examines the prenatal factors that contribute to the disorder.
3. Anderson C, Butt C. {{Young Adults on the Autism Spectrum at College: Successes and Stumbling Blocks}}. {J Autism Dev Disord};2017 (Jul 11)
There is limited information on outcomes for young adults with autism spectrum disorder (ASD), including achievement at college. Qualitative interviews were conducted with 18 families reporting a degree-seeking college experience for their young adult with ASD. Interview transcripts were analyzed using a grounded theory approach. Four themes surrounding success and failure at college emerged. Preparation Beyond Academics involved challenges associated with ASD, such as social, executive functioning, and mental health issues, and to what extent these had been addressed prior to leaving high school. Student/College Fit related to whether a student’s capabilities were matched to college location, size, and culture, while Campus Supports and Family Supports concerned assistance provided by colleges and families, respectively. Implications for future practice are discussed.
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4. Beaudet AL. {{Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis}}. {Bioessays};2017 (Jul 13)
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or « essential » autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency – a defect in carnitine biosynthesis – is a risk factor for autism. A gene on the X chromosome (SLC6A14) likely escapes random X-inactivation (a mixed epigenetic and genetic regulation) and could limit carnitine transport across the blood-brain barrier in boys compared to girls. A mixed, common gene variant-environment hypothesis is proposed with diet, minor illnesses, microbiome, and drugs as possible risk modifiers. The hypothesis can be tested using animal models and by a trial of carnitine supplementation in siblings of probands. Perhaps the lack of any Recommended Dietary Allowance for carnitine in infants should be reviewed. Also see the video abstract here: https://youtu.be/BuRH_jSjX5Y.
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5. Bilbo SD, Block CL, Bolton JL, Hanamsagar R, Tran PK. {{Beyond infection – Maternal immune activation by environmental factors, microglial development, and relevance for autism spectrum disorders}}. {Exp Neurol};2017 (Jul 08)
Immune molecules such as cytokines and chemokines and the cells that produce them within the brain, notably microglia, are critical for normal brain development. This recognition has in recent years led to the working hypothesis that inflammatory events during pregnancy, e.g. in response to infection, may disrupt the normal expression of immune molecules during critical stages of neural development and thereby contribute to the risk for neurodevelopmental disorders such as autism spectrum disorder (ASD). This hypothesis has in large part been shepherded by the work of Dr. Paul Patterson and colleagues, which has elegantly demonstrated that a single viral infection or injection of a viral mimetic to pregnant mice significantly and persistently impacts offspring immune and nervous system function, changes that underlie ASD-like behavioral dysfunction including social and communication deficits. Subsequent studies by many labs – in humans and in non-human animal models – have supported the hypothesis that ongoing disrupted immune molecule expression and/or neuroinflammation contributes to at least a significant subset of ASD. The heterogeneous clinical and biological phenotypes observed in ASD strongly suggest that in genetically susceptible individuals, environmental risk factors combine or synergize to create a tipping or threshold point for dysfunction. Importantly, animal studies showing a link between maternal immune activation (MIA) and ASD-like outcomes in offspring involve different species and diverse environmental factors associated with ASD in humans, beyond infection, including toxin exposures, maternal stress, and maternal obesity, all of which impact inflammatory or immune pathways. The goal of this review is to highlight the broader implications of Dr. Patterson’s work for the field of autism, with a focus on the impact that MIA by diverse environmental factors has on fetal brain development, immune system development, and the pathophysiology of ASD.
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6. Black MH, Chen NTM, Iyer KK, Lipp OV, Bolte S, Falkmer M, Tan T, Girdler S. {{Mechanisms of facial emotion recognition in autism spectrum disorders: Insights from eye tracking and electroencephalography}}. {Neurosci Biobehav Rev};2017 (Jul 08)
While behavioural difficulties in facial emotion recognition (FER) have been observed in individuals with Autism Spectrum Disorder (ASD), behavioural studies alone are not suited to elucidate the specific nature of FER challenges in ASD. Eye tracking (ET) and electroencephalography (EEG) provide insights in to the attentional and neurological correlates of performance, and may therefore provide insight in to the mechanisms underpinning FER in ASD. Given that these processes develop over the course of the developmental trajectory, there is a need to synthesise findings in regard to the developmental stages to determine how the maturation of these systems may impact FER in ASD. We conducted a systematic review of fifty-four studies investigating ET or EEG meeting inclusion criteria. Findings indicate divergence of visual processing pathways in individuals with ASD. Altered function of the social brain in ASD impacts the processing of facial emotion across the developmental trajectory, resulting in observable differences in ET and EEG outcomes.
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7. Casarrubea M, Faulisi F, Cudia A, Cancemi D, Cardaci M, Magnusson MS, Crescimanno G. {{Discovery of recurring behavioural sequences in Wistar rat social activity: Possible support to studies on Autism Spectrum Disorders}}. {Neurosci Lett};2017 (Jul 13);653:58-63.
This study was undertaken to investigate whether, in rat interactive activities, recurring sequences of behavioural events might be identified and how and to what extent each component of the pair is involved. To this aim, the multivariate temporal-pattern (t-pattern) analysis was applied to the social interactions of 9 pairs of male Wistar rats tested in open field. Interactive activities were classified into intra- and inter-subjects. Quantitative evaluations showed that intra-subject behavioural elements represented 62.37% and inter-subject ones 37.63% of the comprehensive behaviour. T-pattern analysis revealed the presence of 221 different t-patterns organized in four different categories: containing exclusively inter-subject elements; containing both inter- and intra-subject elements; consisting of rat 1 and rat 2 intra-subject elements and, finally, consisting of intra-subject elements carried out by one of the two subjects. Results show that the activity of two interacting Wistar rats is structured on the basis of several recurring temporal sequences. Moreover, social interactions appear to be expressed also by t-patterns where the behavioural elements are carried out by animals seemingly not interacting. A support of t-pattern analysis to studies on Autism Spectrum Disorders is proposed.
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8. Chandrasekara B, Wijesundera S, Chong SS, Perera HN. {{Prevalence of Fragile X Syndrome among children receiving special education and carrier states in first degree relatives}}. {Ceylon Med J};2017 (Jun 30);62(2):92-96.
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children. Methods: A nationally representative sample of 850 children (5-18 years) was selected using multi-level stratified sampling. Screening was performed by 3′ direct triplet primed PCR, followed by melting curve analysis. Expanded repeat status of the screened positives were confirmed using capillary electrophoresis, methylation specific PCR and Southern hybridization. Screening of available first degree relatives (n=12) were carried out using the same method of screening and diagnosis. Results: Eleven had FXS. Prevalence of FXS was 1.3% (95% CI 0.9-1.6). Among the 11 with FXS 9 had more than 350 CGG repeats, while the rest had around 300. Twelve first degree relatives consisting of nine mothers, two female siblings and a male sibling were tested. All mothers and female siblings had either full mutation or premutation while the male sibling had CGG repeats in the normal range. Conclusions: Among the special school attendees, prevalence of FXS was 1.3% which has a high risk for autism and attention deficit hyperactivity disorder.
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9. Constantino JN, Kennon-McGill S, Weichselbaum C, Marrus N, Haider A, Glowinski AL, Gillespie S, Klaiman C, Klin A, Jones W. {{Infant viewing of social scenes is under genetic control and is atypical in autism}}. {Nature};2017 (Jul 12)
Long before infants reach, crawl or walk, they explore the world by looking: they look to learn and to engage, giving preferential attention to social stimuli, including faces, face-like stimuli and biological motion. This capacity-social visual engagement-shapes typical infant development from birth and is pathognomonically impaired in children affected by autism. Here we show that variation in viewing of social scenes, including levels of preferential attention and the timing, direction and targeting of individual eye movements, is strongly influenced by genetic factors, with effects directly traceable to the active seeking of social information. In a series of eye-tracking experiments conducted with 338 toddlers, including 166 epidemiologically ascertained twins (enrolled by representative sampling from the general population), 88 non-twins with autism and 84 singleton controls, we find high monozygotic twin-twin concordance (0.91) and relatively low dizygotic concordance (0.35). Moreover, the characteristics that are the most highly heritable, preferential attention to eye and mouth regions of the face, are also those that are differentially decreased in children with autism (chi2 = 64.03, P < 0.0001). These results implicate social visual engagement as a neurodevelopmental endophenotype not only for autism, but also for population-wide variation in social-information seeking. In addition, these results reveal a means of human biological niche construction, with phenotypic differences emerging from the interaction of individual genotypes with early life experience. Lien vers le texte intégral (Open Access ou abonnement)
10. Dickinson A, DiStefano C, Senturk D, Spurling Jeste S. {{Peak alpha frequency is a neural marker of cognitive function across the autism spectrum}}. {Eur J Neurosci};2017 (Jul 12)
Cognitive function varies substantially and serves as a key predictor of outcome and response to intervention in autism spectrum disorder (ASD), yet we know little about the neurobiological mechanisms that underlie cognitive function in children with ASD. The dynamics of neuronal oscillations in the alpha range (6-12 Hz) are associated with cognition in typical development. Peak alpha frequency is also highly sensitive to developmental changes in neural networks which underlie cognitive function, and therefore it holds promise as a developmentally-sensitive neural marker of cognitive function in ASD. Here, we measured peak alpha band frequency under a task-free condition in a heterogeneous sample of children with ASD (N=59) and age-matched typically developing (TD) children (N=38). At a group level, peak alpha frequency was decreased in ASD compared to TD children. Moreover, within the ASD group, peak alpha frequency correlated strongly with non-verbal cognition. As peak alpha frequency reflects the integrity of neural networks, our results suggest that deviations in network development may underlie cognitive function in individuals with ASD. By shedding light on the neurobiological correlates of cognitive function in ASD, our findings lay the groundwork for considering peak alpha frequency as a useful biomarker of cognitive function within this population which, in turn, will facilitate investigations of early markers of cognitive impairment and predictors of outcome in high risk infants. This article is protected by copyright. All rights reserved.
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11. Esnafoglu E, Ayyildiz SN, Cirrik S, Erturk EY, Erdil A, Dagli A, Noyan T. {{Evaluation of serum Neuron-specific enolase, S100B, myelin basic protein and glial fibrilliary acidic protein as brain specific proteins in children with autism spectrum disorder}}. {Int J Dev Neurosci};2017 (Jul 13);61:86-91.
OBJECTIVE: Brain specific-proteins are not found in other tissues and measurement non-invasively in the blood may identify structurally and functionally damaged brain regions and identify the severity and prognosis of neuropsychiatric diseases. For this reason, we aimed to evaluate serum brain-specific protein values as brain damage markers in children with autism spectrum disorder (ASD). METHOD: 35 children with ASD and 31 healthy subjects were included in the study. Sociodemographic form and Childhood Autism Rating Scale (CARS) were applied to each subject. Serum neuron specific enolase (NSE), S100B, Myelin basic protein (MBP) and Glial fibrillary acidic protein (GFAP) values were measured with ELISA. RESULTS: There was no significant difference between the two groups for NSE, MBP and S100B values (p=0.242; p=0.768; p=0.672, respectively). However, GFAP values in the patient group were statistically significantly higher (mean+/-SD: 0.463+/-0.392ng/ml) than in the healthy control group (mean+/-SD: 0.256+/-0.111ng/ml) (p<0.001). In addition, there was a significant positive correlation between serum GFAP values and CARS score in all subjects and in the patient group (r=0.599; p<0.001 and r=0.380; p=0.024, respectively). CONCLUSIONS: While serum NSE, MBP, and S100B values cannot be considered as biomarkers for ASD, GFAP may be a biomarker and is suggested as a possible indicator of autism severity. Lien vers le texte intégral (Open Access ou abonnement)
12. Mosner MG, Kinard JL, McWeeny S, Shah JS, Markiewitz ND, Damiano-Goodwin CR, Burchinal MR, Rutherford HJV, Greene RK, Treadway MT, Dichter GS. {{Vicarious Effort-Based Decision-Making in Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Jul 11)
This study investigated vicarious effort-based decision-making in 50 adolescents with autism spectrum disorders (ASD) compared to 32 controls using the Effort Expenditure for Rewards Task. Participants made choices to win money for themselves or for another person. When choosing for themselves, the ASD group exhibited relatively similar patterns of effort-based decision-making across reward parameters. However, when choosing for another person, the ASD group demonstrated relatively decreased sensitivity to reward magnitude, particularly in the high magnitude condition. Finally, patterns of responding in the ASD group were related to individual differences in consummatory pleasure capacity. These findings indicate atypical vicarious effort-based decision-making in ASD and more broadly add to the growing body of literature addressing social reward processing deficits in ASD.
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13. Richards B. {{Caring for children with autism spectrum condition in paediatric emergency departments}}. {Emerg Nurse};2017 (Jul 13);25(4):30-34.
The needs of children with autism spectrum condition (ASC) in paediatric emergency departments (EDs) can often be overlooked. EDs are high-stress environments for children with ASC, which can result in meltdowns, making the diagnostic process challenging. There should be provision for children with ASC, who can have sensory, behavioural and communication needs, in the same way that analgesia is provided for children in pain. This article promotes a multi-strategy approach to making reasonable adjustments to help meet the needs of these children and provide them with a positive hospital experience.
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14. Siew CT, Mazzucchelli TG, Rooney R, Girdler S. {{A specialist peer mentoring program for university students on the autism spectrum: A pilot study}}. {PLoS One};2017;12(7):e0180854.
INTRODUCTION: The provision of peer mentoring may improve tertiary education outcomes of students with autism spectrum disorder (ASD). This study evaluated the pilot year of the Curtin Specialist Mentoring Program (CSMP), a specialised peer mentoring program for university students with ASD aimed at improving self-reported well-being, academic success and retention in university studies. METHODS: A single group pre-test, post-test design was employed. Quantitative and qualitative evaluations were undertaken with 10 young adults with ASD to explore the effectiveness and acceptability of the CSMP program. Students completed a battery of questionnaires focused on general anxiety, state communication apprehension, perceived communication competence, and communication apprehension both prior to, and five months after commencing enrolment in the CSMP. Information regarding academic success and retention was also obtained. Interviews with participants provided further insight into their experience of the program. RESULTS: Students enrolled in the CSMP showed significant improvement in social support and general communication apprehension assessment scores. Interviews revealed key features of the CSMP that may have contributed to these positive outcomes. CONCLUSIONS: The current study provides preliminary evidence that a specialised peer mentoring program can improve the well-being of students with ASD, and highlights the importance of interventions which are individualised, flexible, based on a social model, and target environmental factors such as social support.
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15. Wang JY, Trivedi AM, Carrillo NR, Yang J, Schneider A, Giulivi C, Adams P, Tassone F, Kim K, Rivera SM, Lubarr N, Wu CY, Irwin RW, Brinton RD, Olichney JM, Rogawski MA, Hagerman RJ. {{Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome}}. {Neurotherapeutics};2017 (Jul 13)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years. Currently, no effective treatment is available. We performed an open-label intervention study to assess whether allopregnanolone, a neurosteroid promoting regeneration and repair, can improve clinical symptoms, brain activity, and magnetic resonance imaging (MRI) measurements in patients with FXTAS. Six patients underwent weekly intravenous infusions of allopregnanolone (2-6 mg over 30 min) for 12 weeks. All patients completed baseline and follow-up studies, though MRI scans were not collected from 1 patient because of MRI contraindications. The MRI scans from previous visits, along with scans from 8 age-matched male controls, were also included to establish patients’ baseline condition as a reference. Functional outcomes included quantitative measurements of tremor and ataxia and neuropsychological evaluations. Brain activity consisted of event-related potential N400 word repetition effect during a semantic memory processing task. Structural MRI outcomes comprised volumes of the hippocampus, amygdala, and fluid-attenuated inversion recovery hyperintensities, and microstructural integrity of the corpus callosum. The results of the study showed that allopregnanolone infusions were well tolerated in all subjects. Before treatment, the patients disclosed impairment in executive function, verbal fluency and learning, and progressive deterioration of all MRI measurements. After treatment, the patients demonstrated improvement in executive functioning, episodic memory and learning, and increased N400 repetition effect amplitude. Although MRI changes were not significant as a group, both improved and deteriorated MRI measurements occurred in individual patients in contrast to uniform deterioration before the treatment. Significant correlations between baseline MRI measurements and changes in neuropsychological test scores indicated the effects of allopregnanolone on improving executive function, learning, and memory for patients with relatively preserved hippocampus and corpus callosum, while reducing psychological symptoms for patients with small hippocampi and amygdalae. The findings show the promise of allopregnanolone in improving cognitive functioning in patients with FXTAS and in partially alleviating some aspects of neurodegeneration. Further studies are needed to verify the efficacy of allopregnanolone for treating FXTAS.
