1. Alfawaz H, Bhat RS, Al-Mutairi M, Alnakhli OM, Al-Dbass A, AlOnazi M, Al-Mrshoud M, Hasan IH, El-Ansary A. {{Comparative study on the independent and combined effects of omega-3 and vitamin B12 on phospholipids and phospholipase A2 as phospholipid hydrolyzing enzymes in PPA-treated rats as a model for autistic traits}}. {Lipids Health Dis};2018 (Aug 31);17(1):205.
BACKGROUND: Abnormal phospholipid metabolism is a major component of many neurodevelopmental disorders including autism. Oral administration of propionic acid (PPA) can produce behavioral abnormalities and biochemical features in rodents similar to those observed in autism and can thus be used as a model to understand impaired brain fatty acid metabolism in autism. METHODS: The present study was designed to understand alterations in phospholipid metabolism in the brain of a rodent model of autism and to explore omega-3 and vitamin B12 as remedies. Five groups of rats were selected: Group 1 was the control. Group 2 was the rodent model of autism treated with a neurotoxic dose of PPA. Group 3 was given vitamin B12 cobalamin (16.7 mg/kg/day) for 30 days after PPA treatment. Group 4 was given pharmaceutical grade Omega-3 (200 mg cholesterol free-DHA/kg body weight/day), a product of Madre lab, Germany, for 30 days after PPA treatment for 3 days. Group 5 was given a combined dose of omega-3 + Vitamin B12 for the same duration post-PPA treatment. Phospholipid levels and Phospholipase A2 were measured in the brain homogenates of all the groups. ELISA and western blotting were used to detect the cPLA2 protein level. RESULTS: A significant decrease in phospholipid levels and a significant increase in cPLA2 were found in brain tissue of PPA-treated rats; however, both omega-3 and vitamin B12 were efficient in ameliorating the neurotoxic effect of PPA. CONCLUSION: Both omega-3 and vitamin B12 may play a role in ameliorating impaired phospholipid metabolism in autism; however, proper clinical trials are needed.
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2. Ayhan F, Konopka G. {{Regulatory genes and pathways disrupted in autism spectrum disorders}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Aug 28);89:57-64.
Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The complex genetic make-up of ASD has been extensively studied and both common and rare genetic variants in up to 1000 genes have been linked to increased ASD risk. While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicity and specific contribution of many mutations to the disorder are poorly understood. Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand disease pathogenesis and direct future therapeutic efforts for the groups of patients with distinct etiologies. Here, we review some of the common regulatory pathways including chromatin remodeling, transcription, and alternative splicing that have emerged as common features from genetic and transcriptomic profiling of ASD. For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years. Finally, we discuss genetic and transcriptomic overlap between ASD and other neurodevelopmental disorders.
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3. Bitsika V, Sharpley CF, McMillan ME, Agnew LL. {{Background cortisol versus social anxiety as correlates of HPA-axis recovery from stress in boys with Autism Spectrum Disorder}}. {Int J Dev Neurosci};2018 (Aug 27);71:52-60.
Children with Autism Spectrum Disorder (ASD) show dysregulation of the expected Hypothalamus-Pituitary-Adrenal (HPA) axis and elevated cortisol responses to stress and response patterns, but little has been reported regarding their recovery from stress in terms of cortisol concentrations. This response was investigated in a sample of 32 young males with ASD aged between 9 and 18 years (M = 14.3 yr, SD = 2.7 yr), using a standardised experimental protocol combined with individualised stressor and non-stressor tasks. Results indicated that about half of the sample demonstrated unexpected HPA axis response patterns, and that recovery from stress cortisol concentrations were significantly associated with a single symptom of Social Phobia and Morning cortisol. These findings suggest that one of the key diagnostic criteria for ASD may be strongly influential in the HPA axis responses of boys with ASD and that training regimesto assist them to form less fearful associations with their non-ASD peers may be central to the academic and social progress of these boys.
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4. Chandler RJ, Russell A, Maras KL. {{Compliance in autism: Self-report in action}}. {Autism};2018 (Aug 31):1362361318795479.
Previous research indicates that autistic individuals are more likely to be bullied, and that they experience heightened anxiety and diminished self-esteem. These factors are known to predict heightened compliance, which is the tendency to agree with or carry out the requests and demands of others. This has a range of potentially serious consequences, particularly for an autistic person. This study utilised self-report (the Gudjonsson Compliance Scale) and behavioural measures of compliance (the door-in-the-face task) with 26 autistic and 26 typically developing adults. Participants also completed measures of early life bullying experiences, anxiety and self-esteem. Autistic participants were more compliant on both self-report and experimental tasks, and they reported more bullying experiences, higher anxiety and reduced self-esteem. Looking at both groups, bullying, anxiety and self-esteem were all correlated with self-reported compliance on the Gudjonsson Compliance Scale, yet only self-esteem was a unique predictor. None of these predictor variables related to behavioural compliance on the door in the face; nor did Gudjonsson Compliance Scale scores predict door-in-the-face performance, which may be better explained by situational and motivational factors. Findings have important implications for a range of real-life settings including requests made in the context of research, schools, the criminal justice system and the workplace.
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5. Edey R, Brewer R, Bird G, Press C. {{Brief Report: Typical Auditory-Motor and Enhanced Visual-Motor Temporal Synchronization in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Aug 29)
The perception of subsecond durations in adults with autism spectrum disorder (hereafter ‘autism’; n = 25 Experiment 1, n = 21 Experiment 2) and matched typical adults (n = 24 Experiment 1, n = 22 Experiment 2) was examined by requiring participants to perform an action in time with auditory (Experiment 1) or visual (Experiment 2) events. Individuals with autism performed comparably to typical participants in the auditory task and exhibited less temporal error relative to their typical counterparts in the visual task. These findings suggest that perception of subsecond intervals is intact in autism, if not enhanced. Results support recent Bayesian theories of enhanced visual-perceptual precision in people with autism, and extend empirical support into the precision of subsecond temporal estimates.
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6. Eshraghi RS, Deth RC, Mittal R, Aranke M, Kay SS, Moshiree B, Eshraghi AA. {{Early Disruption of the Microbiome Leading to Decreased Antioxidant Capacity and Epigenetic Changes: Implications for the Rise in Autism}}. {Front Cell Neurosci};2018;12:256.
Currently, 1 out of every 59 children in the United States is diagnosed with autism. While initial research to find the possible causes for autism were mostly focused on the genome, more recent studies indicate a significant role for epigenetic regulation of gene expression and the microbiome. In this review article, we examine the connections between early disruption of the developing microbiome and gastrointestinal tract function, with particular regard to susceptibility to autism. The biological mechanisms that accompany individuals with autism are reviewed in this manuscript including immune system dysregulation, inflammation, oxidative stress, metabolic and methylation abnormalities as well as gastrointestinal distress. We propose that these autism-associated biological mechanisms may be caused and/or sustained by dysbiosis, an alteration to the composition of resident commensal communities relative to the community found in healthy individuals and its redox and epigenetic consequences, changes that in part can be due to early use and over-use of antibiotics across generations. Further studies are warranted to clarify the contribution of oxidative stress and gut microbiome in the pathophysiology of autism. A better understanding of the microbiome and gastrointestinal tract in relation to autism will provide promising new opportunities to develop novel treatment modalities.
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7. Ghoneim AA. {{Health Promotion Toolkit: An Approach for Empowering Families Caring For Children with Developmental Disabilities in Tabuk}}. {Open Access Maced J Med Sci};2018 (Aug 20);6(8):1503-1511.
AIM: The study aimed to determine the effects of the health promotion toolkit on empowering families caring for children with developmental disability. It hypothesised that health promotion toolkit would effectively improve families’ empowerment and alleviate parental stress. METHODS: The research design was quasi-experimental. A convenience sample of 30 children with DD and their families enrolled at Shoaa ElAmal Center in Umluj participated. Tools were Health Promotion Assessment Sheet, Family Empowerment Scale, and the Parent Stress Index. RESULTS: The results documented significant lower levels of parental stress and higher levels of family empowerment among mothers at posttest than pretest. A significant negative correlation between family empowerment and parental stress was reported. CONCLUSION: Health promotion toolkit had a positive effect on empowering families as well as lowering parental stress. Recommendation Health promotion toolkit should be integrated as a monitoring method of health care needs of health promotional activities for children with developmental disabilities.
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8. Haenfler JM, Skariah G, Rodriguez CM, Monteiro da Rocha A, Parent JM, Smith GD, Todd PK. {{Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells}}. {Front Mol Neurosci};2018;11:282.
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5′ untranslated region (UTR) of FMR1. Large expansions elicit repeat and promoter hyper-methylation, heterochromatin formation, FMR1 transcriptional silencing and loss of the Fragile X protein, FMRP. Efforts aimed at correcting the sequelae resultant from FMRP loss have thus far proven insufficient, perhaps because of FMRP’s pleiotropic functions. As the repeats do not disrupt the FMRP coding sequence, reactivation of endogenous FMR1 gene expression could correct the proximal event in FXS pathogenesis. Here we utilize the Clustered Regularly Interspaced Palindromic Repeats/deficient CRISPR associated protein 9 (CRISPR/dCas9) system to selectively re-activate transcription from the silenced FMR1 locus. Fusion of the transcriptional activator VP192 to dCas9 robustly enhances FMR1 transcription and increases FMRP levels when targeted directly to the CGG repeat in human cells. Using a previously uncharacterized FXS human embryonic stem cell (hESC) line which acquires transcriptional silencing with serial passaging, we achieved locus-specific transcriptional re-activation of FMR1 messenger RNA (mRNA) expression despite promoter and repeat methylation. However, these changes at the transcript level were not coupled with a significant elevation in FMRP protein expression in FXS cells. These studies demonstrate that directing a transcriptional activator to CGG repeats is sufficient to selectively reactivate FMR1 mRNA expression in Fragile X patient stem cells.
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9. Hodgins Z, Kelley E, Kloosterman P, Hall L, Hudson CC, Furlano R, Craig W. {{Brief Report: Do You See What I See? The Perception of Bullying in Male Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Aug 31)
Although there is evidence to suggest that adolescents with autism spectrum disorder (ASD) have difficulty interpreting complex social situations, little is known about their understanding of bullying. Given the high rates of victimization in this population, it is important to investigate how adolescents with ASD comprehend bullying. Male adolescents with ASD and IQ-matched typically-developing (TD) controls (Mage = 14.62, SD = 1.91) watched six videos portraying bullying scenarios and were interviewed after each video. The interviews were coded for the participants’ understanding of the bullying scenarios. Results indicated that adolescents with ASD had significantly lower bullying understanding scores than TD adolescents. These novel findings suggest that male adolescents with ASD understand bullying differently than their TD peers. Implications for experiences with victimization are discussed.
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10. Kim JW, Hong JY, Bae SM. {{Microglia and Autism Spectrum Disorder: Overview of Current Evidence and Novel Immunomodulatory Treatment Options}}. {Clin Psychopharmacol Neurosci};2018 (Aug 31);16(3):246-252.
Autism spectrum disorder is a rapidly increasing heterogeneous neurodevelopmental syndrome, remarked by persistent deficit in social communication, and restricted, repetitive patterns of behavior and interest. Lately, maternal immune activation and micgroglial dysfunction in the developing brain have been gaining mounting evidence and leading to studies of various novel agents as potential treatment options. A few immunomodulatory treatment options-luteolin, minocycline, suramin, vitamin D, gut microbiota-are discussed in the current article, regarding the current understanding of their mechanisms and evidence for potential clinical use. More studies are warranted to understand their exact mechanisms of action and to verify efficacy and safety in human subjects.
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11. Lamptey DL. {{Health beliefs and behaviours of families towards the health needs of children with intellectual and developmental disabilities (IDD) in Accra, Ghana}}. {J Intellect Disabil Res};2018 (Aug 31)
BACKGROUND: This paper explored the health beliefs and behaviours of families towards the health needs of children with intellectual and developmental disabilities (IDD) in Accra, Ghana. The aim was to inform health promotion strategies for the children and their families. METHOD: Twenty-two parents of children with IDD participated in this study. Semi-structured interviews were the primary means of data collection. The interviews were analysed using constant comparison. RESULTS: The signs that alerted the parents that the children might be ill included high temperature, vomiting and excessive sleep. The parents explained that some children expressed feelings of ill-health through verbal or non-verbal communication. Most of the parents self-prescribed medication for the children or waited for symptoms to persist for a while before accessing health care because they experienced difficulties managing the behavioural challenges associated with the IDD of the children in public and attitudinal barriers when accessing health care. The parents did not often patronise health facilities in their neighbourhoods due to private health insurance requirements for accessing care at designated facilities, poor confidence in neighbourhood facilities and long-term established relationships with facilities elsewhere. Further, many parents did not patronise religious interventions for the children. However, some parents explained that in addition to seeking medical care to address the physical symptoms of the children’s disabilities and/or illnesses, they sought religious interventions because they believed that there could be a spiritual dimension to the situation. CONCLUSION: The findings highlight key areas to address in health promotion for children with IDD and their families in Accra, Ghana.
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12. Lassalle A, Zurcher NR, Hippolyte L, Billstedt E, Porro CA, Benuzzi F, Solomon P, Prkachin KM, Lemonnier E, Gillberg C, Asberg Johnels J, Hadjikhani N. {{Effect of visual stimuli of pain on empathy brain network in people with and without Autism Spectrum Disorder}}. {Eur J Neurosci};2018 (Aug 31)
The extent to which affective empathy is impaired in Autism Spectrum Disorder (ASD) remains unclear, as some -but not all – previous neuroimaging studies investigating empathy for pain in ASD have shown similar levels to those of neurotypicals individuals. These inconsistent results could be due to the use of different empathy-eliciting stimuli. While some studies used pictures of faces exhibiting a painful expression, others used pictures of limbs in painful situation. In the present study, we used fMRI to compare activation in areas associated with empathy processing (empathy network) for these two types of stimuli in 31 participants (16 with ASD, 15 CON). We found a group difference in the inferior frontal gyrus [IFG] and the thalamus when participants viewed stimuli of limbs in painful situations, but not when they viewed face stimuli with a painful expression. Both groups of participants activated their empathy network more when viewing pictures of limbs in painful situation than when viewing pictures of faces with a painful expression; this increased activation for limbs vs. faces was significantly enhanced in controls relative to ASD participants, especially in the secondary somatosensory cortex (SII). Our findings suggest that empathy defect of people with ASD is contingent upon the type of stimuli used, and may be related to the level of Mirror Neuron System involvement, as brain regions showing group difference (IFG, SII) underlie embodiment. We discuss the potential clinical implications of our findings in terms of developing interventions boosting the empathetic abilities of people with ASD. This article is protected by copyright. All rights reserved.
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13. Luo T, Liu P, Wang XY, Li LZ, Zhao LP, Huang J, Li YM, Ou JL, Peng XQ. {{Effect of the autism-associated lncRNA Shank2-AS on architecture and growth of neurons}}. {J Cell Biochem};2018 (Aug 30)
The pathogenic mechanism of autism is complex, and current research has shown that long noncoding RNAs (lncRNAs) may play important roles in this process. The antisense lncRNA of SH3 and multiple ankyrin repeat domains 2 (Shank2-AS) is upregulated in patients with autism spectrum disorder (ASD), whereas the expression of its sense strand gene Shank2 is downregulated. In neuronal cells, Shank2-AS and Shank2 can form a double-stranded RNA and inhibit Shank2 expression. Overexpression of Shank2-AS decreases neurite numbers and lengths, thereby inhibiting the proliferation of neuronal cells and promoting their apoptosis. Overexpression of Shank2 inhibits the abovementioned effects of Shank2-AS, and transfection of a vector containing the 10th intron of Shank2 (Shank2-AS is reverse-transcribed from this region) also blocks the function of Shank2-AS. Shank2 small interfering RNA plays a role similar to Shank2-AS. Therefore, Shank2-AS is abnormally expressed in patients with ASD and may affect the structure and growth of neurons by regulating Shank2 expression, thereby facilitating the development of ASD.
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14. McGregor KK, Hadden RR. {{Brief Report: « Um » Fillers Distinguish Children With and Without ASD}}. {J Autism Dev Disord};2018 (Aug 31)
Two laboratories have reported that children with ASD are less likely than their typical peers to fill pauses with um but their use of uh is unaffected (Irvine et al., J Autism Dev Disord 46(3):1061-1070, 2016; Gorman et al., Autism Res 9(8):854-865, 2016). In this brief report, we replicated this finding by comparing the discourse of 7-to-15-year-olds with ASD (N = 31) to that of their typically developing same-age peers (N = 32). The robustness of this easily documented difference in discourse suggests a potentially useful clinical marker of ASD.
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15. Picardi A, Gigantesco A, Tarolla E, Stoppioni V, Cerbo R, Cremonte M, Alessandri G, Lega I, Nardocci F. {{Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups}}. {Clin Pract Epidemiol Ment Health};2018;14:143-176.
Background: The effects of having a child with Autism Spectrum Disorder (ASD) on parents are multifaceted and pervasive. While ample evidence has been provided that these families are under severe stress, there are still several knowledge gaps and unresolved questions. Objective: This study aimed at quantifying the subjective and objective burden of ASD in mothers and fathers, and at improving the understanding of the interplay between parental burden, child’s characteristics, and parents’ coping resources and strategies. Methods: The parents of 359 children/adolescents with ASD were compared to parents of age-matched patients with Down syndrome (N=145) and Type 1 diabetes mellitus (N=155). Child’s clinical characteristics and parents’ caregiving burden, psychological distress, coping resources and strategies were assessed. Results: The parents of children with ASD reported higher objective and subjective burden, more frequent psychological distress, lower social support. Mothers reported greater subjective burden than fathers. Structural equation modeling showed that the most consistent positive and negative predictors of objective and subjective burden were ASD symptom severity and social support, respectively. Other positive predictors were engagement, distraction and disengagement coping, intellectual disability, and adaptive functioning. Other negative predictors were spiritual wellbeing and hardiness. Some effects were indirect through social support and coping strategies. Conclusion: This study confirmed that parents of children with ASD carry a huge caregiving burden, and added to our understanding of the factors associated with burden. The findings may help inform the design of effective interventions aimed at reducing burden among the parents of children with ASD.
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16. Pickard K, Reyes N, Reaven J. {{Examining the inclusion of diverse participants in cognitive behavior therapy research for youth with autism spectrum disorder and anxiety}}. {Autism};2018 (Aug 30):1362361318795678.
Results of randomized controlled trials have demonstrated significant reductions in anxiety symptoms following cognitive behavior therapy participation. Although promising, the extent to which previous research has included families from low socioeconomic status or racially/ethnically diverse backgrounds is unknown. Aims of this study are as follows: (1) What is the race, ethnicity, and educational attainment of youth with autism spectrum disorder and their families who have participated in research examining the efficacy of cognitive behavior therapy for anxiety? and (2) How do the demographics of these participants compare to that of the United States census? A total of 14 studies were reviewed that included 473 participants. Chi-square analyses indicated that there are significant differences between the race/ethnicity of youth with autism spectrum disorder participating in cognitive behavior therapy research for anxiety and that of youth in the United States. Standard residuals indicated significant overrepresentation of White youth and significant underrepresentation of Black and Latino youth in cognitive behavior therapy research (all p-values <0.001). Similarly, there were significant differences in the educational attainment of caregivers participating in cognitive behavior therapy research, with a significant underrepresentation of caregivers from low socioeconomic status backgrounds ( p < 0.001). These findings have implications for the development of cognitive behavior therapy interventions for youth with autism spectrum disorder and anxiety that are both rigorous and inclusive. Lien vers le texte intégral (Open Access ou abonnement)
17. Roleska M, Roman-Urrestarazu A, Griffiths S, Ruigrok ANV, Holt R, van Kessel R, McColl K, Sherlaw W, Brayne C, Czabanowska K. {{Autism and the right to education in the EU: Policy mapping and scoping review of the United Kingdom, France, Poland and Spain}}. {PLoS One};2018;13(8):e0202336.
INTRODUCTION: Autistic people may have different educational needs that need to be met to allow them to develop their full potential. Education and disability policies remain within the competence of EU Member States, with current educational standards and provisions for autistic people implemented locally. This scoping review aims to map EU and national special education policies with the goal of scoping the level of fulfilment of the right to education of autistic people. METHODS: Four EU countries (United Kingdom, France, Poland and Spain) were included in this scoping review study. Governmental policies in the field of education, special education needs and disability law were included. Path dependency framework was used for data analysis; a net of inter-dependencies between international, EU and national policies was created. RESULTS AND DISCUSSION: Each country created policies where the right to free education without discrimination is provided. Poland does not have an autism specific strategy, whereas the United Kingdom, France and Spain have policies specifically designed for autistic individuals. Within the United Kingdom, all countries created different autism plans, nevertheless all aim to reach the same goal-inclusive education for autistic children that leads to the development of their full potential. CONCLUSION: Policy-making across Europe in the field of education has been changing through the years in favour of autistic people. Today their rights are noticed and considered, but there is still room for improvement. Results showed that approaches and policies vastly differ between countries, more Member States should be analysed in a similar manner to gain a broader and clearer view with a special focus on disability rights in Central and Eastern Europe.
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18. Zensho K, Ishida H, Nagai H, Tsukahara H, Shimada A. {{Wernicke’s encephalopathy in a child with autism during chemotherapy for T-cell acute leukemia}}. {Pediatr Int};2018 (Aug);60(8):757-758.
