1. Bekhet AK, Matel-Anderson D. {{Risk and Protective Factors in the Lives of Caregivers of Persons With Autism: Caregivers’ Perspectives}}. {Perspect Psychiatr Care};2016 (Jun 16)
PURPOSE: The purpose of this descriptive exploratory study is to understand the experience of being a caregiver of a person with autism spectrum disorder (ASD) in the light of the resilience theory. METHODS: Qualitative data were collected as a part of a larger quantitative study. Ninety-three caregivers completed this qualitative study and responded to the two open-ended questions. In the parent study, subjects were recruited by convenience sampling from the Interactive ASD Network (IAN). FINDINGS: The identified categories appeared to reflect three distinct categories consistent with the resilience theory, labeled as follows: risk factors, protective factors, and overlapping factors. PRACTICE IMPLICATIONS: These findings help to inform the planning of tailored interventions to enhance caregivers’ resilience.
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2. Brauna AP, Abreu MH, Resende VL, Castilho LS. {{Risk factors for dental caries in children with developmental disabilities}}. {Braz Oral Res};2016 (Jun 14);30(1)
The aim of the present study was to investigate risk factors for dental caries in children with developmental disabilities who were treated at a clinical reference service for patients with special needs in Belo Horizonte, MG, Brazil. This is a retrospective cohort study that evaluated 401 dental charts of individuals without dental caries or restorations in their first dental appointment. The dependent variable was the time of occurrence of new dental caries or restorations and was measured in months. Gender, age, International Code of Diseases (ICD), mother s education, sugar consumption, use of fluoride toothpaste, oral hygiene, mouth breathing, reports of xerostomia, gingival status, use of psychotropic or asthma drugs, and history of asthma were covariates. The Cox proportional hazards regression model was used to estimate the raw and adjusted hazard ratios and their respective 95% confidence intervals. The average time that individuals remained free of dental caries/restoration was equal to 107.46 months (95%CI 95.41 to 119.51), with a median of caries-free children up to 94 months. For each point increase in the scale of sucrose consumption, the increase in caries risk was 1.07 (95%CI 1.01 to 1.15). Sucrose consumption was the only risk factor for dental caries found in this group of individuals with developmental disabilities.
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3. Chen C, Hung AY, Fan YT, Tan S, Hong H, Cheng Y. {{Linkage between pain sensitivity and empathic response in adolescents with autism spectrum conditions and conduct disorder symptoms}}. {Autism Res};2016 (Jun 16)
Lack of empathy is one of the behavioral hallmarks in individuals with autism spectrum conditions (ASC) as well as youth with conduct disorder symptoms (CDS). Previous research has reliably documented considerable overlap between the perception of others’ pain and first-hand experience of pain. However, the linkage between empathy for pain and sensitivity to physical pain needs to be empirically determined, particularly in individuals with empathy deficits. This study measured the pressure pain threshold, which indexes sensitization of peripheral nociceptors, and assessed subjective ratings of unpleasantness and pain intensity in response to empathy-eliciting stimuli depicting physical bodily injuries in three age- and sex-matched participant groups: ASC, CDS, and typically developing controls (TDC). The results indicated that the pain threshold was lowest in the ASC group and highest in the CDS group. The ASC group displayed lower ratings of unpleasantness and pain intensity than did the TDC and CDS groups. Within the ASC and CDS, pain intensity ratings were significantly correlated with unpleasantness ratings to others’ pain. Moreover, the ASC significantly differed from the TDC in the correlation between pain threshold values and unpleasantness ratings. These findings may cast some light on the linkage between atypical low-level sensory functioning, for instance altered pain sensitivity, and high-level empathic processing. Autism Res 2016, (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Dale RC. {{Autistic regression and central nervous system autoimmunity}}. {Dev Med Child Neurol};2016 (Jun 15)
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5. Dandulakis MG, Meganathan K, Kroll KL, Bonni A, Constantino JN. {{Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research}}. {J Neurodev Disord};2016;8:22.
Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual’s genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e.g., autism spectrum disorders), there are significant complexities in the course and status of X chromosome inactivation (XCI) that are crucial to consider in establishing the validity of cellular models. There are major gaps and inconsistencies in the existing literature regarding XCI status during the derivation and maintenance of hiPSCs and their differentiation into neurons. Here, we briefly describe the importance of the problem, review the findings and inconsistencies of the existing literature, delineate options for specifying XCI status in clonal populations, and develop recommendations for future studies.
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6. De Felice A, Greco A, Calamandrei G, Minghetti L. {{Prenatal exposure to the organophosphate insecticide chlorpyrifos enhances brain oxidative stress and prostaglandin E2 synthesis in a mouse model of idiopathic autism}}. {J Neuroinflammation};2016;13(1):149.
BACKGROUND: Autism spectrum disorders (ASD) are emerging as polygenic and multifactorial disorders in which complex interactions between defective genes and early exposure to environmental stressors impact on the correct neurodevelopment and brain processes. Organophosphate insecticides, among which chlorpyrifos (CPF), are widely diffused environmental toxicants associated with neurobehavioral deficits and increased risk of ASD occurrence in children. Oxidative stress and dysregulated immune responses are implicated in both organophosphate neurodevelopmental effects and ASD etiopathogenesis. BTBR T+tf/J mice, a well-studied model of idiopathic autism, show several behavioral and immunological alterations found in ASD children, and we recently showed that CPF gestational exposure strengthened some of these autistic-like traits. In the present study, we aimed at investigating whether the behavioral effects of gestational CPF administration are associated with brain increased oxidative stress and altered lipid mediator profile. METHODS: Brain levels of F2-isoprostanes (15-F2t-IsoP), as index of in vivo oxidative stress, and prostaglandin E2 (PGE2), a major arachidonic acid metabolite released by immune cells and by specific glutamatergic neuron populations mainly in cortex and hippocampus, were assessed by specific enzyme-immuno assays in brain homogenates from BTBR T+tf/J and C57Bl6/J mice, exposed during gestation to either vehicle or CPF. Measures were performed in mice of both sexes, at different postnatal stages (PNDs 1, 21, and 70). RESULTS: At birth, BTBR T+tf/J mice exhibited higher baseline 15-F2t-IsoP levels as compared to C57Bl6/J mice, suggestive of greater oxidative stress processes. Gestational treatment with CPF-enhanced 15-F2t-IsoP and PGE2 levels in strain- and age-dependent manner, with 15-F2t-IsoP increased in BTBR T+tf/J mice at PNDs 1 and 21, and PGE2 elevated in BTBR T+tf/J mice at PNDs 21 and 70. At PND 21, CPF effects were sex-dependent being the increase of the two metabolites mainly associated with male mice. CPF treatment also induced a reduction of somatic growth, which reached statistical significance at PND 21. CONCLUSIONS: These findings indicate that the autistic-like BTBR T+tf/J strain is highly vulnerable to environmental stressors during gestational period. The results further support the hypothesis that oxidative stress might be the link between environmental neurotoxicants such as CPF and ASD. The increased levels of oxidative stress during early postnatal life could result in delayed and long-lasting alterations in specific pathways relevant to ASD, of which PGE2 signaling represents an important one.
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7. Dickerson AS, Rahbar MH, Bakian AV, Bilder DA, Harrington RA, Pettygrove S, Kirby RS, Durkin MS, Han I, Moye LA, 3rd, Pearson DA, Wingate MS, Zahorodny WM. {{Autism spectrum disorder prevalence and associations with air concentrations of lead, mercury, and arsenic}}. {Environ Monit Assess};2016 (Jul);188(7):407.
Lead, mercury, and arsenic are neurotoxicants with known effects on neurodevelopment. Autism spectrum disorder (ASD) is a neurodevelopmental disorder apparent by early childhood. Using data on 4486 children with ASD residing in 2489 census tracts in five sites of the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring (ADDM) Network, we used multi-level negative binomial models to investigate if ambient lead, mercury, and arsenic concentrations, as measured by the US Environmental Protection Agency National-Scale Air Toxics Assessment (EPA-NATA), were associated with ASD prevalence. In unadjusted analyses, ambient metal concentrations were negatively associated with ASD prevalence. After adjusting for confounding factors, tracts with air concentrations of lead in the highest quartile had significantly higher ASD prevalence than tracts with lead concentrations in the lowest quartile (prevalence ratio (PR) = 1.36; 95 ‘% CI: 1.18, 1.57). In addition, tracts with mercury concentrations above the 75th percentile (>1.7 ng/m(3)) and arsenic concentrations below the 75th percentile (Lien vers le texte intégral (Open Access ou abonnement)
8. Elagoz Yuksel M, Yuceturk B, Karatas OF, Ozen M, Dogangun B. {{The Altered Promoter Methylation Of Oxytocin Receptor Gene In Autism}}. {J Neurogenet};2016 (Jun 16):1-15.
Autism spectrum disorders (ASDs) are one of the life long existing disorders. Abnormal methylation status of gene promoters of oxytonergic system has been implicated as among the etiologic factors of ASDs. We, therefore, investigated the methylation frequency of oxytocin receptor gene (OXTR) promoter from peripheral blood samples of children with autistic features. Our sample includes 66 children in total (22-94 months); 27 children with ASDs according to the DSM-IV-TR and the Childhood Autism Rating Scale and 39 children who don’t have any autistic like symptoms as the healthy control group. We investigated the DNA methylation status of OXTR promoter by methylation specific enzymatic digestion of genomic DNA and polymerase chain reaction. A significant relationship has been found between ASDs and healthy controls for the reduction of methylation frequency of the regions MT1 and MT3 of OXTR. We could not find any association in the methylation frequency of MT2 and MT4 regions of OXTR. Although our findings indicate high frequency of OXTR promoter hypomethylation in ASDs, there is need for independent replication of the results in a bigger sample set. We expect that future studies with the inclusion of larger, more homogeneous samples will attempt to disentangle the causes of ASDs.
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9. Esposito G, Dellantonio S, Mulatti C, Job R. {{Axiom, Anguish, and Amazement: How Autistic Traits Modulate Emotional Mental Imagery}}. {Front Psychol};2016;7:757.
Individuals differ in their ability to feel their own and others’ internal states, with those that have more autistic and less empathic traits clustering at the clinical end of the spectrum. However, when we consider semantic competence, this group could compensate with a higher capacity to imagine the meaning of words referring to emotions. This is indeed what we found when we asked people with different levels of autistic and empathic traits to rate the degree of imageability of various kinds of words. But this was not the whole story. Individuals with marked autistic traits demonstrated outstanding ability to imagine theoretical concepts, i.e., concepts that are commonly grasped linguistically through their definitions. This distinctive characteristic was so pronounced that, using tree-based predictive models, it was possible to accurately predict participants’ inclination to manifest autistic traits, as well as their adherence to autistic profiles – including whether they fell above or below the diagnostic threshold – from their imageability ratings. We speculate that this quasi-perceptual ability to imagine theoretical concepts represents a specific cognitive pattern that, while hindering social interaction, may favor problem solving in abstract, non-socially related tasks. This would allow people with marked autistic traits to make use of perceptual, possibly visuo-spatial, information for « higher » cognitive processing.
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10. Kazdoba TM, Leach PT, Yang M, Silverman JL, Solomon M, Crawley JN. {{Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics}}. {Curr Top Behav Neurosci};2016 (Jun 16)
Animal models provide preclinical tools to investigate the causal role of genetic mutations and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and humanized knock-in mice, and more recently knockout rats, have been generated for many of the de novo single gene mutations and copy number variants (CNVs) detected in ASD and comorbid neurodevelopmental disorders. Mouse models incorporating genetic and environmental manipulations have been employed for preclinical testing of hypothesis-driven pharmacological targets, to begin to develop treatments for the diagnostic and associated symptoms of autism. In this review, we summarize rodent behavioral assays relevant to the core features of autism, preclinical and clinical evaluations of pharmacological interventions, and strategies to improve the translational value of rodent models of autism.
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11. Lazaro CP, Ponde MP, Rodrigues LE. {{Opioid peptides and gastrointestinal symptoms in autism spectrum disorders}}. {Rev Bras Psiquiatr};2016 (Jun 14):0.
Autism spectrum disorders (ASDs) are characterized by deficits in the individual’s ability to socialize, communicate, and use the imagination, in addition to stereotyped behaviors. These disorders have a heterogenous phenotype, both in relation to symptoms and regarding severity. Organic problems related to the gastrointestinal tract are often associated with ASD, including dysbiosis, inflammatory bowel disease, exocrine pancreatic insufficiency, celiac disease, indigestion, malabsorption, food intolerance, and food allergies, leading to vitamin deficiencies and malnutrition. In an attempt to explain the pathophysiology involved in autism, a theory founded on opioid excess has been the focus of various investigations, since it partially explains the symptomatology of the disorder. Another hypothesis has been put forward whereby the probable triggers of ASDs would be related to the presence of bacteria in the bowel, oxidative stress, and intestinal permeability. The present update reviews these hypotheses.
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12. Miller A, Shen J, Masse LC. {{Child functional characteristics explain child and family outcomes better than diagnosis: Population-based study of children with autism or other neurodevelopmental disorders/disabilities}}. {Health Rep};2016 (Jun 15);27(6):9-18.
BACKGROUND: Allocation of resources for services and supports for children with neurodevelopmental disorders/disabilities (NDD/D) is often based on the presence of specific health conditions. This study investigated the relative roles of a child’s diagnosed health condition and neurodevelopmental and related functional characteristics in explaining child and family health and well-being. DATA AND METHODS: The data on children with NDD/D (ages 5 to 14; weighted n = 120,700) are from the 2006 Participation and Activity Limitation Survey (PALS), a population-based Canadian survey of parents of children with functional limitations/disabilities. Direct and indirect effects of child diagnosis status-autism spectrum disorder (ASD)/not ASD-and functional characteristics (particularly, ASD-related impairments in speech, cognition, and emotion and behaviour) on child participation and family health and well-being were investigated in a series of structural equation models, while controlling for covariates. RESULTS: All models adequately fitted the data. Child ASD diagnosis was significantly associated with child participation and family health and well-being. When ASD-related child functional characteristics were added to the model, all direct effects from child diagnosis on child and family outcomes disappeared; the effect of child diagnosis on child and family outcomes was fully mediated via ASD-related child functional characteristics. INTERPRETATION: Children’s neurodevelopmental functional characteristics are integral to understanding the child and family health-related impact of neurodevelopmental disorders such as ASD. These findings have implications for the relative weighting given to functional versus diagnosis-specific factors in considering needs for services and supports.
13. Mussap M, Noto A, Fanos V. {{Metabolomics of autism spectrum disorders: early insights regarding mammalian-microbial cometabolites}}. {Expert Rev Mol Diagn};2016 (Jun 16)
INTRODUCTION: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders consisting of delayed or impaired language development and difficulties in social interactions. The very high degree of phenotypic heterogeneity in ASD originates from the interaction between environmental risk factors and susceptible genetic loci, leading to epigenetic DNA methylation. Advances in system biology are becoming strategic for implementing knowledge on the ASD aetiology and for the early diagnosis of the disease after birth. AREAS COVERED: We overhauled the value of either targeted or untargeted metabolomics studies in autism for identifying the most relevant metabolic pathways and key metabolites implicated in the disease, with special emphasis to mammalian-microbial metabolites. The most discriminant metabolites in ASD belong to amino acid metabolism, antioxidant status, nicotinic acid metabolism, and mitochondrial metabolism. Expert commentary: Most published studies point out the role of metabolites derived from the gut microbiota: they can modulate the behavioral phenotype of the autistic children, greatly influencing host metabolic pathways and the immune system, shaping the individual susceptibility to the disease. Pitfalls and caveats in metabolomics results across studies have been additionally recognized and discussed leading to the conclusion that metabolomics studies in ASD are far to be definitive and univocal.
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14. Uljarevic M, Evans DW, Alvares GA, Whitehouse AJ. {{Short report: relationship between restricted and repetitive behaviours in children with autism spectrum disorder and their parents}}. {Mol Autism};2016;7:29.
BACKGROUND: Restricted and repetitive behaviours (RRBs) constitute a core symptom domain of autism spectrum disorder (ASD). However, the nature of RRBs in the context of the Broader Autism Phenotype (BAP) is not well understood. In particular, the relationship between RRBs in ASD probands and their parents remains largely unexplored. The current study explored the link between parental RRBs, measured via Interest in Patterns and Resistance to Changes subscales of the Autism Quotient and their children’s RRBs, measured via Autism Diagnostic Observation Schedule RRB standardized domain score. FINDINGS: Having both parents within the top 20 % of their RRB scores was associated with an increase of RRB scores for their children; however, no parent-of-origin effects were identified. Although the trend was observed for both Interest in Patterns and Resistance to Changes subscale, it was only statistically significant for Interest in Patterns. CONCLUSIONS: This paper provides significant contribution to our understanding of association between RRBs in parents and their children with ASD. Future work should also address the BAP in distinct genetic subtypes (whole chromosome aneuploidies, single gene mutations, copy number variations) of neurodevelopmental and neuropsychiatric disorders that involve RRBs.
