1. Alfonso-Alfonso M, Morales-Chacon LM, Gonzalez-Naranjo JE. {{Subjective Assessment of Sleep in Infantile Autism: A Comparative Study}}. {Behav Sci (Basel)}. 2019; 9(2).
Sleep disturbances are very common in children with autism; it is for this reason that instruments that facilitate their evaluation are necessary. OBJECTIVES: Perform sleep assessment from a subjective perspective in a group of children with primary autism and compare them with a control group, using the Sleep Habits in Children Survey (CSHQ), with the purpose of determining sleep disturbances according to the subscales used. METHOD: A prospective cross-sectional study was conducted in a group of 21 patients with primary autism. For the evaluation of sleep disturbances, we chose the CSHQ survey. The differences between the independent groups were calculated by applying a Mann(-)Whitney U test. RESULTS: In the group of children with autism, higher values of the total scale were observed in comparison with the control group (p = 0.00) which It is congruent with a large sleep dysfunction. Significant differences were observed for all subscales (p = 0.00), with the exception of the subscale number 7. CONCLUSIONS: A high presence of sleep disturbances was observed in children with primary autism, with the exception of sleep breathing disorders, which did not show significant differences between the groups.
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2. Antoine MW, Langberg T, Schnepel P, Feldman DE. {{Increased Excitation-Inhibition Ratio Stabilizes Synapse and Circuit Excitability in Four Autism Mouse Models}}. {Neuron}. 2019.
Distinct genetic forms of autism are hypothesized to share a common increase in excitation-inhibition (E-I) ratio in cerebral cortex, causing hyperexcitability and excess spiking. We provide a systematic test of this hypothesis across 4 mouse models (Fmr1(-/y), Cntnap2(-/-), 16p11.2(del/+), Tsc2(+/-)), focusing on somatosensory cortex. All autism mutants showed reduced feedforward inhibition in layer 2/3 coupled with more modest, variable reduction in feedforward excitation, driving a common increase in E-I conductance ratio. Despite this, feedforward spiking, synaptic depolarization, and spontaneous spiking were largely normal. Modeling revealed that E and I conductance changes in each mutant were quantitatively matched to yield stable, not increased, synaptic depolarization for cells near spike threshold. Correspondingly, whisker-evoked spiking was not increased in vivo despite detectably reduced inhibition. Thus, elevated E-I ratio is a common circuit phenotype but appears to reflect homeostatic stabilization of synaptic drive rather than driving network hyperexcitability in autism.
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3. Burd E, Doyle EA. {{Challenges in the Treatment of Iron Deficiency Anemia in a Child With Autism Spectrum Disorder: A Case Study}}. {J Pediatr Health Care}. 2019.
Children with autism spectrum disorder (ASD) face many challenges, including feeding problems due to behavioral issues and food aversions. Therefore, pediatric nurse practitioners need to assess for different mineral deficiencies, including iron deficiency anemia (IDA). The following case study describes a 4-year-old with ASD with persistent IDA despite typical recommendation of oral iron supplementation. Other potential etiologies of IDA are reviewed. Finally, different management approaches for managing IDA in children with ASD are described.
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4. Clark B, Belanger SA. {{ADHD in children and youth: Part 3-Assessment and treatment with comorbid ASD, ID, or prematurity}}. {Paediatrics & child health}. 2018; 23(7): 485-90.
Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summarize the current clinical evidence regarding ADHD,2) Establish a standard for ADHD care, and3) Assist Canadian clinicians in making well-informed, evidence-based decisions to enhance care of children and youth with this condition. Specific topics reviewed in Part 3, which focuses on associated autism spectrum disorder, intellectual disability, and prematurity, include the challenges of diagnostic assessment, common presentations, the role of genetics, and treatment, including the benefits of physical activity. Recommendations are based on current guidelines, evidence from the literature, and expert consensus.
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5. Clifford H, Dulneva A, Ponting CP, Haerty W, Becker EBE. {{A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status}}. {Sci Rep}. 2019; 9(1): 485.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disease whose underpinning molecular mechanisms and neural substrates are subject to intense scrutiny. Interestingly, the cerebellum has emerged as one of the key brain regions affected in ASD. However, the genetic and molecular mechanisms that link the cerebellum to ASD, particularly during development, remain poorly understood. To gain insight into the genetic and molecular mechanisms that might link the cerebellum to ASD, we analysed the transcriptome dynamics of a developing cell population highly enriched for Purkinje cells of the mouse cerebellum across multiple timepoints. We identified a single cluster of genes whose expression is positively correlated with development and which is enriched for genes associated with ASD. This ASD-associated gene cluster was specific to developing Purkinje cells and not detected in the mouse neocortex during the same developmental period, in which we identified a distinct temporally regulated ASD gene module. Furthermore, the composition of ASD risk genes within the two distinct clusters was significantly different in their association with intellectual disability (ID), consistent with the existence of genetically and spatiotemporally distinct endophenotypes of ASD. Together, our findings define a specific cluster of ASD genes that is enriched in developing PCs and predicts co-morbidity status.
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6. Damiano D, Forssberg H. {{Poor data produce poor models: children with developmental disabilities deserve better}}. {The Lancet Global health}. 2019; 7(2): e188.
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7. de Diego-Otero Y, Salgado-Cacho JM. {{Early detection in autism spectrum disorders}}. {Medicina clinica}. 2019.
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8. Eura N, Sugie K, Suzuki N, Kiriyama T, Izumi T, Shimakura N, Kato M, Aoki M. {{A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor}}. {Journal of the neurological sciences}. 2019; 398: 67-8.
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9. Fetissov SO, Averina OV, Danilenko VN. {{Neuropeptides in the microbiota-brain axis and feeding behavior in autism spectrum disorder}}. {Nutrition (Burbank, Los Angeles County, Calif)}. 2018; 61: 43-8.
A combination of altered social and feeding behaviors is common in children with autism spectrum disorder (ASD); however, the underlying mechanisms are unknown. Nevertheless, it has been established that several specific neuropeptides are critically involved in the regulation of both feeding and social behavior, such as alpha-melanocyte-stimulating hormone (alpha-MSH) and oxytocin, respectively. Moreover, recent data implicated gut microbiota in regulation of host feeding and emotion and revealed its dysbiosis in ASD, suggesting a mechanistic role of altered microbiota-brain axis in ASD. In this review, we discuss how gut microbiota dysbiosis may alter hunger and satiety peptide hormones as well as brain peptidergic pathways involved in the regulation of host feeding and social behaviors and hence may contribute to the ASD pathophysiology. In particular, we show that interactions between alpha-MSH and oxytocin systems in the brain can provide clues for better understanding of the mechanisms underlying altered feeding and social behaviors in ASD and that the origin of such alterations can be linked to gut microbiota.
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10. Fontes-Dutra M, Della-Flora Nunes G, Terra JS, Souza-Nunes W, Bauer-Negrini G, Hirsch MM, Green L, Riesgo R, Gottfried C, Bambini-Junior V. {{Abnormal empathy-like pro-social behaviour in the valproic acid model of autism spectrum disorder}}. {Behav Brain Res}. 2019.
Impairments in social behaviour are a defining feature of autism spectrum disorder (ASD). Individuals with ASD also usually present some difficulty to recognise or understand another person’s feelings. Therefore, it is possible that altered empathy processing could hinder typical social interaction in ASD. Recently, robust paradigms confirmed that rodents show primordial forms of empathy-like behaviour. Therefore, in this work, we used one of these new protocols to test pro-social behaviour in the rat model of autism induced by Valproic Acid (VPA). We also evaluated possible beneficial effects of Resveratrol, since it can prevent social deficits in the VPA model. Rats were tested on their ability to open a restrainer to release a trapped conspecific. Exposure to VPA precludes the timely manifestation of this empathy-like behaviour, but does not affect its continuation after its first expression. We also found a significant correlation between average speed during the first day of test and becoming an Opener. Similarly, rats able to open the restrainer on the first day had an increased likelihood of repeating this behaviour in the later days of the testing programme. We did not find any protective effects of Resveratrol. Further investigation of empathy-like behaviour in the VPA model and in other models of autism could help to clarify the behavioural and neural processes underpinning the basic aspects of empathy alterations in autistic individuals.
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11. Gantois I, Popic J, Khoutorsky A, Sonenberg N. {{Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders}}. {Annual review of medicine}. 2019; 70: 167-81.
Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients. Experiments using different animal models advanced our knowledge of the pathophysiology of FXS and led to the discovery of many targets for drug treatments. In this review, we discuss the potential of metformin, an antidiabetic drug approved by the US Food and Drug Administration, to correct core symptoms of FXS and other neurological disorders in humans. We summarize its mechanisms of action in different animal and cellular models and human diseases.
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12. Herpers PCM, Bakker-Huvenaars MJ, Greven CU, Wiegers EC, Nijhof KS, Baanders AN, Buitelaar JK, Rommelse NNJ. {{Emotional valence detection in adolescents with oppositional defiant disorder/conduct disorder or autism spectrum disorder}}. {Eur Child Adolesc Psychiatry}. 2019.
Oppositional defiant disorder, conduct disorder (ODD/CD), and autism spectrum disorder (ASD) share poor empathic functioning and have been associated with impaired emotional processing. However, no previous studies directly compared similarities and differences in these processes for the two disorders. A two-choice emotional valence detection task requiring differentiation between positive, negative, and neutral IAPS pictures was administered to 52 adolescents (12-19 years) with ODD/CD, 52 with ASD and 24 typically developing individuals (TDI). Callous-unemotional (CU) traits were assessed by self- and parent reports using the Inventory of callous-unemotional traits. Main findings were that adolescents with ODD/CD or ASD both performed poorer than TDI in terms of accuracy, yet only the TDI-not both clinical groups-had relatively most difficulty in discriminating between positive versus neutral pictures compared to neutral-negative or positive-negative contrasts. Poorer performance was related to a higher level of CU traits. The results of the current study suggest youth with ODD/CD or ASD have a diminished ability to detect emotional valence which is not limited to facial expressions and is related to a higher level of CU traits. More specifically, youth with ODD/CD or ASD seem to have a reduced processing of positive stimuli and/or lack a ‘positive perception bias’ present in TDI that could either contribute to the symptoms and/or be a result of having the disorder and may contribute to the comorbidity of both disorders.
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13. Horvath G, Otrokocsi L, Beko K, Baranyi M, Kittel A, Antonio Fritz-Ruenes P, Sperlagh B. {{P2X7 receptors drive poly(I:C) induced autism-like behavior in mice}}. {J Neurosci}. 2019.
Maternal immune activation (MIA) is a principal environmental risk factor contributing to autism spectrum disorder (ASD), which compromises fetal brain development at critical periods of pregnancy, and might be causally linked to ASD symptoms. We report that endogenous activation of the purinergic ion channel P2X7 (P2rx7) is necessary and sufficient to transduce MIA to autistic phenotype in male offspring. MIA induced by poly(I:C) injections to P2rx7 wild-type mouse dams elicited an autism-like phenotype in their offspring and these alterations were not observed in P2rx7 deficient mice, or following maternal treatment with a specific P2rx7 antagonist, JNJ7965567. Genetic deletion and pharmacological inhibition of maternal P2rx7s also counteracted the induction of IL-6 in the maternal plasma and fetal brain, and disrupted brain development, whilst postnatal P2rx7 inhibition alleviated behavioral and morphological alterations in the offspring. Administration of ATP to P2rx7 wild-type dams also evoked autistic phenotype, but not in knockout dams, implying that P2rx7 activation by ATP is sufficient to induce austim-like features in offspring. Our results point to maternal and offspring P2rx7s as potential therapeutic targets for the early prevention and treatment of ASD.SIGNIFICANCE STATEMENTAutism spectrum disorder (ASD) is a neurodevelopmental psychiatric disorder caused by genetic and environmental factors. Recent studies highlighted the importance of perinatal risks, in particular, maternal immune activation (MIA), showing strong association with the later emergence of ASD in the affected children. MIA could be mimicked in animal models via injection of a non-pathogenic agent poly(I:C) during pregnancy. This is the first report showing the key role of a ligand gated ion channel, the purinergic P2X7 receptor in MIA induced autism-like behavioral and biochemical features. We show that genetic or pharmacological inhibition of both maternal and offspring P2X7 receptors could reverse the compromised brain development and autistic phenotype pointing to new possibilities for prevention and treatment of ASD.
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14. Kaufman JA, Wright JM, Rice G, Connolly N, Bowers K, Anixt J. {{Ambient ozone and fine particulate matter exposures and autism spectrum disorder in metropolitan Cincinnati, Ohio}}. {Environmental research}. 2019; 171: 218-27.
BACKGROUND: Epidemiological studies report fairly consistent associations between various air pollution metrics and autism spectrum disorder (ASD), with some elevated risks reported for different prenatal and postnatal periods. OBJECTIVES: To examine associations between ASD and ambient fine particulate matter (PM2.5) and ozone concentrations during the prenatal period through the second year of life in a case-control study. METHODS: ASD cases (n=428) diagnosed at Cincinnati Children’s Hospital Medical Center were frequency matched (15:1) to 6420 controls from Ohio birth records. We assigned daily PM2.5 and ozone estimates for 2005-2012 from US EPA’s Fused Air Quality Surface Using Downscaling model to each participant for each day based on the mother’s census tract of residence at birth. We calculated adjusted odds ratios (aORs) using logistic regression across continuous and categorical exposure window averages (trimesters, first and second postnatal years, and cumulative measure), adjusting for maternal- and birth-related confounders, both air pollutants, and multiple temporal exposure windows. RESULTS: We detected elevated aORs for PM2.5 during the 2nd trimester, 1st year of life, and a cumulative period from pregnancy through the 2nd year (aOR ranges across categories: 1.41-1.44, 1.54-1.84, and 1.41-1.52 respectively), and for ozone in the 2nd year of life (aOR range across categories: 1.29-1.42). Per each change in IQR, we observed elevated aORs for ozone in the 3rd trimester, 1st and 2nd years of life, and the cumulative period (aOR range: 1.19-1.27) and for PM2.5 in the 2nd trimester, 1st year of life, and the cumulative period (aOR range: 1.11-1.17). DISCUSSION: We saw limited evidence of linear exposure-response relationships for ASD with increasing air pollution, but the elevated aORs detected for PM2.5 in upper exposure categories and per IQR unit increases were similar in magnitude to those reported in previous studies, especially for postnatal exposures.
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15. Kuiper MWM, Verhoeven EWM, Geurts HM. {{Stop Making Noise! Auditory Sensitivity in Adults with an Autism Spectrum Disorder Diagnosis: Physiological Habituation and Subjective Detection Thresholds}}. {J Autism Dev Disord}. 2019.
Auditory sensitivities are common among people with autism spectrum disorder diagnoses (ASD). As underlying factors are unknown, we examined whether ASD adults (NASD = 33; NTypically Developing = 31; 25-45 years; IQ > 70): (1) habituated slower to auditory stimuli; (2) had lower auditory detection thresholds; and (3) whether these mechanisms related to self-reported auditory sensitivities. Two auditory stimuli (tone, siren) were repeated, whilst skin conductance responses were recorded to measure habituation. Detection thresholds were measured by stepwise reductions in tone volume. We found no evidence in favor of our hypotheses, but ASD adults did rate the auditory stimuli as more arousing. Based on explorative analyses, we argue that studying the strength of physiological responses to auditory stimuli is needed to understand auditory sensitivities.
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16. Mash LE, Linke AC, Olson LA, Fishman I, Liu TT, Muller RA. {{Transient states of network connectivity are atypical in autism: A dynamic functional connectivity study}}. {Hum Brain Mapp}. 2019.
There is ample evidence of atypical functional connectivity (FC) in autism spectrum disorders (ASDs). However, transient relationships between neural networks cannot be captured by conventional static FC analyses. Dynamic FC (dFC) approaches have been used to identify repeating, transient connectivity patterns (« states »), revealing spatiotemporal network properties not observable in static FC. Recent studies have found atypical dFC in ASDs, but questions remain about the nature of group differences in transient connectivity, and the degree to which states persist or change over time. This study aimed to: (a) describe and relate static and dynamic FC in typical development and ASDs, (b) describe group differences in transient states and compare them with static FC patterns, and (c) examine temporal stability and flexibility between identified states. Resting-state functional magnetic resonance imaging (fMRI) data were collected from 62 ASD and 57 typically developing (TD) children and adolescents. Whole-brain, data-driven regions of interest were derived from group independent component analysis. Sliding window analysis and k-means clustering were used to explore dFC and identify transient states. Across all regions, static overconnnectivity and increased variability over time in ASDs predominated. Furthermore, significant patterns of group differences emerged in two transient states that were not observed in the static FC matrix, with group differences in one state primarily involving sensory and motor networks, and in the other involving higher-order cognition networks. Default mode network segregation was significantly reduced in ASDs in both states. Results highlight that dynamic approaches may reveal more nuanced transient patterns of atypical FC in ASDs.
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17. Mazurek MO, Dovgan K, Neumeyer AM, Malow BA. {{Course and Predictors of Sleep and Co-occurring Problems in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
The chronicity of sleep disturbance and its relation to co-occurring symptoms in children with autism spectrum disorder (ASD) are not well understood. The current study examined longitudinal relations among sleep and co-occurring symptoms in a large well-characterized sample of 437 children with ASD assessed at baseline and follow-up (M = 3.8 years later). Twenty-three percent experienced worsening sleep problems over time, while 31.5% showed improvement. Path analysis indicated that sleep problems at baseline predicted later development of ADHD symptoms in younger children and somatic complaints in older children. For younger children, sensory over-responsivity predicted future sleep problems. Findings suggest that sensory over-reactivity may contribute to sleep problems in some children with ASD, and that sleep problems may result in poor daytime functioning.
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18. Mollinedo P, Kapitansky O, Gonzalez-Lamuno D, Zaslavsky A, Real P, Gozes I, Gandarillas A, Fernandez-Luna JL. {{Cellular and animal models of skin alterations in the autism-related ADNP syndrome}}. {Sci Rep}. 2019; 9(1): 736.
Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. However, the clinical features of patients with this syndrome are not fully identified, and no treatment currently exists for these patients. Here, we extended the ADNP syndrome phenotype describing skin abnormalities in both a patient with ADNP syndrome and an Adnp haploinsufficient mice. The patient displayed thin dermis, hyperkeratotic lesions in periarticular areas and delayed wound healing. Patient-derived skin keratinocytes showed reduced proliferation and increased differentiation. Additionally, detection of cell cycle markers indicated that mutant cells exhibited impaired cell cycle progression. Treatment of ADNP-deficient keratinocytes with the ADNP-derived NAP peptide significantly reduced the expression of differentiation markers. Sonography and immunofluorescence staining of epidermal layers revealed that the dermis was thinner in the patient than in a healthy control. Adnp haploinsufficient mice (Adnp(+/-)) mimicked the human condition showing reduced dermal thickness. Intranasal administration of NAP significantly increased dermal thickness and normalized the levels of cell cycle and differentiation markers. Our observations provide a novel activity of the autism-linked ADNP in the skin that may serve to define the clinical phenotype of patients with ADNP syndrome and provide an attractive therapeutic option for skin alterations in these patients.
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19. Nevill RE, Havercamp SM. {{Effects of mindfulness, coping styles and resilience on job retention and burnout in caregivers supporting aggressive adults with developmental disabilities}}. {J Intellect Disabil Res}. 2019.
BACKGROUND: Considering the growing body of studies investigating the effects of mindfulness-based interventions on caregivers supporting people with developmental disabilities, the current study aimed to explore the role that the cognitive processes of mindfulness, coping style and resilience played in predicting caregiver retention and burnout among a sample of direct support professionals working with aggressive adults with developmental disabilities. METHODS: Ninety-seven direct support professionals were surveyed to determine level of mindfulness, coping styles, resilience and burnout and were interviewed 3 months later to determine if they were still working with the aggressive adult. RESULTS: Mindfulness skills of describing non-judgmentally and observing one’s environment, as well as problem-focused coping, emerged as protective factors against burnout, while avoidance-focused and maladaptive coping emerged as risk factors. Mindful openness acted as the only predictor of job retention. CONCLUSIONS: These results support that paid caregivers should receive trainings in mindfulness and positive coping mechanisms as part of their job trainings, to promote positive outcomes for both themselves and the people they support.
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20. Olusanya BO, Davis AC, Kassebaum NJ. {{Poor data produce poor models: children with developmental disabilities deserve better – Authors’ reply}}. {The Lancet Global health}. 2019; 7(2): e189.
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21. Shochet IM, Saggers BR, Carrington SB, Orr JA, Wurfl AM, Duncan BM. {{A Strength-Focused Parenting Intervention May Be a Valuable Augmentation to a Depression Prevention Focus for Adolescents with Autism}}. {J Autism Dev Disord}. 2019.
High depression rates for adolescents with autism indicate a need for a comprehensive prevention approach. Parents can promote parent-child factors that buffer adolescents from depression. However, parenting adolescents with autism presents challenges which can diminish parental self-efficacy and mental wellbeing with potential negative sequelae for their adolescents. This proof-of-concept study investigated the value of adding a strength-focused parenting intervention to a depression-prevention intervention for adolescents with autism. A Consensual Qualitative Research framework analysed 15 parents’ intervention experience. Parents reported that feeling isolated and unsupported by existing services motivated their participation, and they valued interacting with other parent participants. They also reported that the program enhanced wellbeing and parenting efficacy, reduced isolation, increased ability to parent calmly, and improved parent-adolescent relationships.
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22. Tremblay MW, Jiang YH. {{DNA Methylation and Susceptibility to Autism Spectrum Disorder}}. {Annual review of medicine}. 2019; 70: 151-66.
The prevalence of autism spectrum disorder (ASD) has been increasing steadily over the last 20 years; however, the molecular basis for the majority of ASD cases remains unknown. Recent advances in next-generation sequencing and detection of DNA modifications have made methylation-dependent regulation of transcription an attractive hypothesis for being a causative factor in ASD etiology. Evidence for abnormal DNA methylation in ASD can be seen on multiple levels, from genetic mutations in epigenetic machinery to loci-specific and genome-wide changes in DNA methylation. Epimutations in DNA methylation can be acquired throughout life, as global DNA methylation reprogramming is dynamic during embryonic development and the early postnatal period that corresponds to the peak time of synaptogenesis. However, technical advances and causative evidence still need to be established before abnormal DNA methylation and ASD can be confidently associated.
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23. Wang X, Yang J, Zhang H, Yu J, Yao Z. {{Oral probiotic administration during pregnancy prevents autism-related behaviors in offspring induced by maternal immune activation via anti-inflammation in mice}}. {Autism Res}. 2019.
Maternal immune activation (MIA) is associated with an increased risk for autism spectrum disorders (ASD) in offspring. Animal experiments have found that interleukin 6 (IL-6) and IL-17a are key cytokines in the induction of ASD by MIA. Moreover, probiotics were verified to inhibit the production of proinflammatory cytokines. Therefore, we investigated whether the administration of oral probiotics during pregnancy might protect the offspring that have suffered MIA from developing ASD. Probiotics were orally administered to pregnant mice with/without the simultaneous administration of Poly(I:C). We found that oral probiotics prevented the ASD-like behaviors induced by MIA in offspring. Furthermore, oral probiotics prevented the MIA-induced increases in the IL-6 and IL-17a levels in both maternal serum and fetal brains, parvalbumin positive (PV(+) ) neuron loss, and the decrease in the gamma-aminobutyric acid levels in the prefrontal cortex of adult offspring. This work suggests that administering oral probiotics during pregnancy may help decrease the risk of ASD following MIA during pregnancy. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Interleukin 6 (IL-6) and IL-17a are key cytokines in the maternal immune activation (MIA)-induced autism spectrum disorders (ASD). Based on emerging evidence that probiotics can inhibit the production of proinflammatory cytokines, we found that oral probiotics prevented MIA-induced ASD-like behaviors in offspring. This work suggested that oral probiotics during pregnancy may be an effective means for decreasing the incidence of ASD in offspring.
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24. Weber JD, Smith E, Berry-Kravis E, Cadavid D, Hessl D, Erickson C. {{Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities}}. {Brain Sci}. 2019; 9(2).
To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age of the individual with FXS. The results highlight the top priorities for treatment development for family members/caretakers, as well as a small group of professionals, and an even smaller group of individuals with FXS, while demonstrating challenges with « voice of the patient » research in FXS.
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25. Zhang T, Zhang J, Wang Z, Jia M, Lu T, Wang H, Yue W, Zhang D, Li J, Wang L. {{Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium}}. {Autism Res}. 2019.
Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism.
