1. Biswas S, Kanwal B, Jeet C, Seminara RS. {{Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review}}. {Cureus}. 2018; 10(8): e3228.
The role of vitamin D in the development of autism spectrum disorder (ASD) is of intensified interest in medical science in recent years. Vitamin D has a significant role in neurogenesis, neuroprotection, and neurodevelopment. Due to the close association of vitamin D with the brain, it has been found that in the pathophysiology of several neuropsychiatric disorders vitamin D receptor (VDR) polymorphism plays a significant role. In this review article, we looked for a relation between VDR polymorphism and ASD. We systemically reviewed all the potential articles on the relation between VDR polymorphism and ASD. We found that several VDR variants FokI, BsmI, and TaqI polymorphisms are related to ASD. Even paternal VDR polymorphism can be a causative factor for ASD in the offspring. The relation between FokI (ff) genotype polymorphism and increased level of serum 1,25(OH)D3 in ASD patients is a very significant finding. Variation of ASD-related genotypes in different ethnic population raises a big question on whether the environmental factors also can do changes in human genotypes leading to ASD.
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2. Carruthers S, Kinnaird E, Rudra A, Smith P, Allison C, Auyeung B, Chakrabarti B, Wakabayashi A, Baron-Cohen S, Bakolis I, Hoekstra RA. {{A cross-cultural study of autistic traits across India, Japan and the UK}}. {Molecular autism}. 2018; 9: 52.
Background: There is a global need for brief screening instruments that can identify key indicators for autism to support frontline professionals in their referral decision-making. Although a universal set of conditions, there may be subtle differences in expression, identification and reporting of autistic traits across cultures. In order to assess the potential for any measure for cross-cultural screening use, it is important to understand the relative performance of such measures in different cultures. Our study aimed to identify the items on the Autism Spectrum Quotient (AQ)-Child that are most predictive of an autism diagnosis among children aged 4-9 years across samples from India, Japan and the UK. Methods: We analysed parent-reported AQ-Child data from India (73 children with an autism diagnosis and 81 neurotypical children), Japan (116 children with autism and 190 neurotypical children) and the UK (488 children with autism and 532 neurotypical children). None of the children had a reported existing diagnosis of intellectual disability. Discrimination indices (DI) and positive predictive values (PPV) were used to identify the most predictive items in each country. Results: Sixteen items in the Indian sample, 15 items in the Japanese sample and 28 items in the UK sample demonstrated excellent discriminatory power (DI >/= 0.5 and PPV >/= 0.7), suggesting these items represent the strongest indicators for predicting an autism diagnosis within these countries. Across cultures, good performing items were largely overlapping, with five key indicator items appearing across all three countries (can easily keep track of several different people’s conversations, enjoys social chit-chat, knows how to tell if someone listening to him/her is getting bored, good at social chit-chat, finds it difficult to work out people’s intentions). Four items indicated potential cultural differences. One item was highly discriminative in Japan but poorly discriminative (DI < 0.3) in the UK and India, and a further item had excellent discrimination properties in the UK but poorly discriminated in the Indian and Japanese samples. Two additional items were highly discriminative in two cultures but poor in the third. Conclusions: Cross-cultural overlap in the items most predictive of an autism diagnosis supports the general notion of universality in autistic traits whilst also highlighting that there can be cultural differences associated with certain autistic traits. These findings have the potential to inform the development of a brief global screening tool for autism. Further development and evaluation work is needed. Lien vers le texte intégral (Open Access ou abonnement)
3. Cechmanek B, Johnson H, Vazhappilly S, Lebel C, Bray S. {{Somatosensory regions show limited functional connectivity differences in youth with Autism Spectrum Disorder}}. {Brain connectivity}. 2018.
An estimated 70-90% of children with Autism Spectrum Disorder (ASD) have sensory symptoms, which may present as hyper- or hypo-responsivity in one or more sensory modalities. These sensitivities correlate with social symptoms, activity and social interaction levels. Interestingly, sensory symptoms appear to be most prevalent in late childhood, suggesting a developmental component. While the neural basis of sensory sensitivities remains unclear, atypical functional connectivity of sensory brain regions has been suggested as a potential mechanism. Tactile sensitivities are among the most predictive of social functioning, yet no studies to our knowledge have examined somatosensory functional connectivity in children and adolescents with ASD, when symptoms are typically most prominent. Here, we used human data from the Autism Brain Imaging Data Exchange (ABIDE-I) to assess functional connectivity differences of somatosensory regions during resting state functional magnetic resonance imaging (fMRI), in youth aged 8-15 years. After head-motion exclusion our sample included 67 participants with ASD and 121 typically developing (TD) controls. We additionally examined associations between functional connectivity and age, as well as ASD symptom severity. Together, these seed-based analyses showed limited differences in functional connectivity between groups, either to hypothesized target regions or in terms of global connectivity. Our findings suggest that hyper-or hypo- somatosensory functional connectivity at rest is not a population-level feature in ASD. However, this does not preclude increased variability of somatosensory networks across the ASD population. Further, as sensory sensitivities were not specifically assessed in this sample, future studies may be better able to identify patterns of functional connectivity reflecting individual differences in sensory symptoms.
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4. Chen G, Jin Z, Li S, Jin X, Tong S, Liu S, Yang Y, Huang H, Guo Y. {{Early life exposure to particulate matter air pollution (PM1, PM2.5 and PM10) and autism in Shanghai, China: A case-control study}}. {Environment international}. 2018.
BACKGROUND: The evidence for adverse effects of ambient particulate matter (PM) pollution on mental health is limited. Studies in Western countries suggested higher risk of autism spectrum disorder (ASD) associated with PM air pollution, but no such study has been done in developing countries. METHODS: A case-control study was performed in Shanghai with a multi-stage random sampling design. Children’s exposures to PM1, PM2.5 and PM10 (particulate matter with aerodynamic diameter<1mum, < 2.5mum and<10mum, respectively) during the first three years after birth were estimated with satellite remote sensing data. Conditional logistic regression was used to examine the PM-ASD association. RESULTS: In total, 124 ASD cases and 1240 healthy controls were included in this study. The median levels of PM1, PM2.5 and PM10 exposures during the first three years of life were 48.8mug/m(3), 66.2mug/m(3) and 95.4mug/m(3), respectively, and the interquartile range (IQR) for these three pollutants were 4.8mug/m(3), 3.4mug/m(3) and 4.9mug/m(3), respectively. The adjusted odds ratios (and 95% confidence intervals) of ASD associated with an IQR increase for PM1, PM2.5 and PM10 were 1.86 (1.09, 3.17), 1.78 (1.14, 2.76) and 1.68 (1.09, 2.59), respectively. Higher ORs of ASD associated with PM pollution were observed in the second and the third year after birth. CONCLUSIONS: Exposures to PM1, PM2.5 and PM10 during the first three years of life were associated with the increased risk of ASD and there appeared to be stronger effects of ambient PM pollution on ASD in the second and the third years after birth. Lien vers le texte intégral (Open Access ou abonnement)
5. Dababnah S, Habayeb S, Bear BJ, Hussein D. {{Feasibility of a trauma-informed parent-teacher cooperative training program for Syrian refugee children with autism}}. {Autism : the international journal of research and practice}. 2018: 1362361318805368.
Although the number of Syrians affected by the civil war rises, little work has been done to address the needs of Syrian refugee children with autism spectrum disorder. This research aimed to test the feasibility and acceptability of a culturally sensitive intervention developed specifically for children with autism spectrum disorder affected by trauma. Local partners advised the program team on cultural norms. Nine parents and 11 teachers were recruited to participate in 12-week parent-teacher cooperatives in a large Turkish city. We used qualitative methods to analyze interviews with each participant after intervention completion. A total of 14 participants completed the program (70%). All interviewees were women and Syrian refugees. Local political events, transportation costs and safety, and illnesses impacted attrition and attendance. All participants were satisfied with program content, including gains in autism knowledge, behavior management skills, and social support. Program-related challenges included applying skills to nonverbal children. The majority of participants made recommendations for program improvement, including a need for services outside urban areas. Flexible program delivery methods, including online options, might better accommodate participants unable to travel due to distance, political unrest, or safety. More research is needed to rigorously test program outcomes and to evaluate efforts to train local program leaders.
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6. Gadow KD, Garman HD. {{Social Anhedonia in Children and Adolescents with Autism Spectrum Disorder and Psychiatry Referrals}}. {Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53}. 2018: 1-12.
Social anhedonia (SA) is a widely accepted symptom phenotype in autism spectrum disorder (ASD), depression, and schizophrenia spectrum disorder; nevertheless, its clinical implications are relatively unstudied in populations of clinic-referred youth with and without ASD. Youth with ASD (n = 268) and nonASD psychiatry referrals (n = 641) between 6 and 18 years of age were evaluated for SA, ASD severity, co-occurring psychiatric symptom severity, and a wide range of common clinical correlates. Participants were parsed into youth with and without parent-defined SA, and the latter were further subdivided into youth with (SA+ alone) and without (SA/-alone) a preference for being alone. Two thirds of the ASD group met criteria for SA compared with one fourth of psychiatry referrals. SA was associated with higher rates of ASD social skill deficits, social anxiety, depression, and schizophrenia symptoms in both clinic samples. SA+ alone had the highest rates of social anxiety. Among the ASD sample, severity of social anxiety and ASD social skills deficits were relatively small predictors of SA. There was little evidence of divergence between youth with and without SA for a wide range of commonly studied biopsychosocial clinical correlates, for example, youth, family, medical, and treatment characteristics. Although factors associated with the ASD diathesis contribute to an increased risk of SA, they do not in and of themselves explain our results. Lack of syndrome specificity supports the notion that SA is a useful transdiagnostic symptom phenotype in referred youth and challenges traditional conceptualizations of ASD as a categorical clinical phenotype.
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7. Lewton M, Ashwin C, Brosnan M. {{Syllogistic reasoning reveals reduced bias in people with higher autistic-like traits from the general population}}. {Autism : the international journal of research and practice}. 2018: 1362361318808779.
Recent theories of autism have emphasised the cognitive strengths and weaknesses in those with autism, which are also seen to some degree in non-clinical samples with higher autistic-like traits. The dual process theory of autism proposes that people with autism and non-clinical people with a higher degree of autistic-like traits have a propensity to show reduced intuitive processing (automatic and typically faster) alongside enhanced propensity towards deliberative processing (dependent on general cognitive ability and typically slower). This study aimed to further test the dual process theory of autism by investigating syllogistic reasoning (whether a conclusion can be logically deduced from two propositions) in addition to the cognitive reflection test (correct responses to which reflect deliberative processing over-riding intuitive processing) with respect to the degree of autistic-like traits and general cognitive ability in a non-clinical sample of 189 adults. Results showed that higher levels of autistic-like traits were related to lower levels of intuitive processing and higher levels of deliberative processing, which was found across both the syllogistic reasoning and cognitive reflection test measures – over and above the effect of general cognitive ability. The findings are consistent with the dual process theory of autism, and implications for autism are discussed.
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8. Lipinski S, Blanke ES, Suenkel U, Dziobek I. {{Outpatient Psychotherapy for Adults with High-Functioning Autism Spectrum Condition: Utilization, Treatment Satisfaction, and Preferred Modifications}}. {Journal of autism and developmental disorders}. 2018.
Many adults with autism spectrum condition (ASC) desire outpatient psychotherapy (PT). This study compared reasons for seeking PT, experiences with PT, and modifications preferred with respect to PT of individuals with ASC to non-autistic individuals with depression (MDD). Furthermore, factors predictive for treatment satisfaction were identified in individuals with ASC. A total of 262 adults with ASC without intellectual impairment and 304 non-autistic controls with MDD were surveyed. In this pilot study both groups predominantly sought treatment for depressiveness. A low level of expertise with autism was the main reason for being declined by therapists and a contributing factor to the overall treatment dissatisfaction of patients with ASC. ASC patients desire adjustments such as written communication, and clearly structured sessions.
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9. Margolis AE, Pagliaccio D, Thomas L, Banker S, Marsh R. {{Salience network connectivity and social processing in children with nonverbal learning disability or autism spectrum disorder}}. {Neuropsychology}. 2018.
OBJECTIVE: Nonverbal learning disability (NVLD) is a putative neurodevelopmental disorder characterized by spatial processing deficits as well as social deficits similar to those characteristic of autism spectrum disorder (ASD). Nonetheless, NVLD may be a distinct disorder that is differentially associated with the functioning and connectivity of the salience (SN) and default mode (DMN) networks that support social processing. Thus, we sought to assess and compare connectivity across these networks in children with NVLD, ASD, and typically developing children. METHOD: Resting-state fMRI data were examined in 17 children with NVLD, 17 children with ASD selected from the Autism Brain Imaging Data Exchange (ABIDE), and 40 TD children (20 from ABIDE). Average DMN and SN functional connectivity and pairwise region-to-region connectivity were compared across groups. Associations with social impairment and IQ were assessed. RESULTS: Children with NVLD showed reduced connectivity between SN regions (anterior insula to anterior cingulate and to rostral prefrontal cortex [rPFC]), whereas children with ASD showed greater connectivity between SN regions (supramarginal gyrus to rPFC) relative to the other groups. Both clinical groups showed higher levels of parent-reported social problems, which related to altered SN connectivity in the NVLD group. No differences were detected in overall average connectivity within or between networks. CONCLUSIONS: The social deficits common across children with NVLD and ASD may derive from distinct alterations in connectivity within the SN. Such findings represent the first step toward identifying a neurobiological signature of NVLD. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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10. Ramirez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payan-Gomez C. {{FRAGILE X SYNDROME AND CONNECTIVE TISSUE CONNECTIVE TISSUE DEFICITS IN FRAGILE X SYNDROME}}. {Clinical genetics}. 2018.
Fragile X Syndrome is the most common cause of inherited intellectual disabilities and autism spectrum disorders and it is an X-linked disorder in which there is a deficiency of the Fragile X Mental Retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Connective tissue connects and supports all other tissues of the body, and is composed of cells and extracellular matrix. Severalproteins have been involved in the connective tissue abnormalities associated with the FXS, such as matrix metalloproteinase 9, which plays an important role in the homeostasis of the extracellular matrix, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS.Here we review connective tissue problems described in Fragile X Syndrome. This article is protected by copyright. All rights reserved.
