1. Boonen H, van Esch L, Lambrechts G, Maljaars J, Zink I, Van Leeuwen K, Noens I. {{Mothers’ Parenting Behaviors in Families of School-Aged Children with Autism Spectrum Disorder: An Observational and Questionnaire Study}}. {J Autism Dev Disord};2015 (Jun 23)
Although parents of children with ASD face specific challenges in parenting, only a few studies have empirically investigated parenting behaviors among these parents. The current study examined differences in parenting behaviors between mothers of school-aged children with ASD (n = 30) and mothers of typically developing children (n = 39), using both an observational measure and a self-report questionnaire. Results indicated that mothers of children with ASD obtained significantly lower scores on Sensitivity and Provision of structure as measured during the observation. They reported significantly higher scores on Material rewarding and Adapting the environment on the questionnaire. When controlling for parenting stress, the group differences on Sensitivity and Material rewarding did not remain significant.
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2. Brosnan M, Johnson H, Grawemeyer B, Chapman E, Antoniadou K, Hollinworth M. {{Deficits in metacognitive monitoring in mathematics assessments in learners with autism spectrum disorder}}. {Autism};2015 (Jun 22)
Children and adults with autism spectrum disorder have been found to have deficits in metacognition that could impact upon their learning. This study explored metacognitive monitoring in 28 (23 males and 5 females) participants with autism spectrum disorder and 56 (16 males and 40 females) typically developing controls who were being educated at the same level. Participants were asked a series of mathematics questions. Based upon previous research, after each question they were asked two metacognitive questions: (1) whether they thought they had got the answer correct or not (or ‘don’t know’) and (2) whether they meant to get the answer correct or not (or ‘don’t know’). Participants with autism spectrum disorder were significantly more likely than the typically developing group to erroneously think that they had got an incorrect answer correct. Having made an error, those with autism spectrum disorder were also significantly more likely to report that they had meant to make the error. Different patterns in the types of errors made were also identified between the two groups. Deficits in metacognition were identified for the autism spectrum disorder group in the learning of mathematics. This is consistent with metacognitive research from different contexts and the implications for supporting learning in autism spectrum disorder are discussed.
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3. Curran EA, Dalman C, Kearney PM, Kenny LC, Cryan JF, Dinan TG, Khashan AS. {{Association Between Obstetric Mode of Delivery and Autism Spectrum Disorder: A Population-Based Sibling Design Study}}. {JAMA Psychiatry};2015 (Jun 24)
Importance: Because the rates of cesarean section (CS) are increasing worldwide, it is becoming increasingly important to understand the long-term effects that mode of delivery may have on child development. Objective: To investigate the association between obstetric mode of delivery and autism spectrum disorder (ASD). Design, Setting, and Participants: Perinatal factors and ASD diagnoses based on the International Classification of Diseases, Ninth Revision (ICD-9),and the International Statistical Classification of Diseases, 10th Revision (ICD-10),were identified from the Swedish Medical Birth Register and the Swedish National Patient Register. We conducted stratified Cox proportional hazards regression analysis to examine the effect of mode of delivery on ASD. We then used conditional logistic regression to perform a sibling design study, which consisted of sibling pairs discordant on ASD status. Analyses were adjusted for year of birth (ie, partially adjusted) and then fully adjusted for various perinatal and sociodemographic factors. The population-based cohort study consisted of all singleton live births in Sweden from January 1, 1982, through December 31, 2010. Children were followed up until first diagnosis of ASD, death, migration, or December 31, 2011 (end of study period), whichever came first. The full cohort consisted of 2697315 children and 28290 cases of ASD. Sibling control analysis consisted of 13411 sibling pairs. Exposures: Obstetric mode of delivery defined as unassisted vaginal delivery (VD), assisted VD, elective CS, and emergency CS (defined by before or after onset of labor). Main Outcomes and Measures: The ASD status as defined using codes from the ICD-9 (code 299) and ICD-10 (code F84). Results: In adjusted Cox proportional hazards regression analysis, elective CS (hazard ratio, 1.21; 95% CI, 1.15-1.27) and emergency CS (hazard ratio, 1.15; 95% CI, 1.10-1.20) were associated with ASD when compared with unassisted VD. In the sibling control analysis, elective CS was not associated with ASD in partially (odds ratio [OR], 0.97; 95% CI, 0.85-1.11) or fully adjusted (OR, 0.89; 95% CI, 0.76-1.04) models. Emergency CS was significantly associated with ASD in partially adjusted analysis (OR, 1.20; 95% CI, 1.06-1.36), but this effect disappeared in the fully adjusted model (OR, 0.97; 95% CI, 0.85-1.11). Conclusions and Relevance: This study confirms previous findings that children born by CS are approximately 20% more likely to be diagnosed as having ASD. However, the association did not persist when using sibling controls, implying that this association is due to familial confounding by genetic and/or environmental factors.
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4. Fung LK, Hardan AY. {{Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date}}. {CNS Drugs};2015 (Jun 24)
Pharmacologic treatments targeting specific molecular mechanisms relevant for autism spectrum disorder (ASD) are beginning to emerge in early drug development. This article reviews the evidence for the disruption of glutamatergic neurotransmission in animal models of social deficits and summarizes key pre-clinical and clinical efforts in developing pharmacologic interventions based on modulation of glutamatergic systems in individuals with ASD. Understanding the pathobiology of the glutamatergic system has led to the development of new investigational treatments for individuals with ASD. Specific examples of medications that modulate the glutamatergic system in pre-clinical and clinical studies are described. Finally, we discuss the limitations of current strategies and future opportunities in developing medications targeting the glutamatergic system for treating individuals with ASD.
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5. Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. {{Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms}}. {Neurotherapeutics};2015 (Jun 24)
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.
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6. Hasegawa C, Kikuchi M, Yoshimura Y, Hiraishi H, Munesue T, Takesaki N, Higashida H, Oi M, Minabe Y, Asada M. {{Changes in autistic trait indicators in parents and their children with ASD: A preliminary longitudinal study}}. {Psychiatry Res};2015 (Jun 11)
This study investigated whether the longitudinal changes in symptom severity in children with autism spectrum disorder (ASD) are associated with changes in the parents autistic traits. The results demonstrated two significant correlations between the changes in childrens Social Responsiveness Scale (SRS) scores and the Social Responsiveness Scale (SRS) score changes in either the father or both parents. Autistic symptom mitigation in ASD children was associated with increased empathy levels in their parents.
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7. Howe YJ, O’Rourke JA, Yatchmink Y, Viscidi EW, Jones RN, Morrow EM. {{Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities}}. {J Autism Dev Disord};2015 (Jun 23)
This study investigated the differences in clinical symptoms between females and males with autism spectrum disorder (ASD) across three verbal ability groups (nonverbal, phrase and fluent speech), based on which Autism Diagnostic Observation Schedule module was administered to 5723 individuals in four research datasets. In the Simons Simplex Collection and Autism Treatment Network, females with ASD and phrase or fluent speech had lower cognitive, adaptive, and social abilities than males. In the Autism Genetics Resource Exchange and the Autism Consortium, females with phrase or fluent speech had similar or better adaptive and social abilities than males. Females who were nonverbal had similar cognitive, adaptive, and social abilities as males. Population-based longitudinal studies of verbally fluent females with ASD are needed.
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8. Koyama R, Ikegaya Y. {{Microglia in the Pathogenesis of Autism Spectrum Disorders}}. {Neurosci Res};2015 (Jun 24)
Proper synaptic pruning is essential for the development of functional neural circuits. Impairments in synaptic pruning disrupt the excitatory versus inhibitory balance (E/I balance) of synapses, which may cause neurodevelopmental disorders such as autism spectrum disorder (ASD). Recent studies have determined molecular mechanisms by which microglia, the brain’s resident immune cells, engulf inappropriate and less active synapses. Thus, microglial dysfunction may be involved in the pathogenesis of ASD through attenuated or excess synaptic pruning. In this review, we discuss recent animal and human studies that report an E/I imbalance and the characteristics of microglia in ASD. We will further discuss whether and how synaptic pruning by microglia is involved in the pathogenesis of ASD.
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9. Lee MS, Kim YJ, Kim EJ, Lee MJ. {{Overlap of autism spectrum disorder and glucose transporter 1 deficiency syndrome associated with a heterozygous deletion at the 1p34.2 region}}. {J Neurol Sci};2015 (Jun 24)
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10. Minhas A, Vajaratkar V, Divan G, Hamdani SU, Leadbitter K, Taylor C, Aldred C, Tariq A, Tariq M, Cardoza P, Green J, Patel V, Rahman A. {{Parents’ perspectives on care of children with autistic spectrum disorder in South Asia – Views from Pakistan and India}}. {Int Rev Psychiatry};2015 (Jun 24):1-10.
Autism spectrum disorder (ASD) affects about 1.4% of the population in South Asia but very few have access to any form of health care service. The objective of this study was to explore the beliefs and practices related to the care of children with ASD to inform strategies for intervention. In Pakistan, primary data were collected through in-depth interviews of parents (N = 15), while in India a narrative review of existing studies was conducted. The results show that the burden of care is almost entirely on the mother, leading to high levels of stress. Poor awareness of the condition in both family members and front-line health-providers leads to delay in recognition and appropriate management. There is considerable stigma and discrimination affecting children with autism and their families. Specialist services are rare, concentrated in urban areas, and inaccessible to the majority. Strategies for intervention should include building community and family support networks to provide respite to the main carer. In the absence of specialists, community members such as community health workers, traditional practitioners and even motivated family members could be trained in recognizing and providing evidence-based interventions. Such task-shifting strategies should be accompanied by campaigns to raise awareness so greater inclusivity can be achieved.
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11. Parkington KB, Clements RJ, Landry O, Chouinard PA. {{Visual-motor association learning in undergraduate students as a function of the autism-spectrum quotient}}. {Exp Brain Res};2015 (Jun 24)
We examined how performance on an associative learning task changes in a sample of undergraduate students as a function of their autism-spectrum quotient (AQ) score. The participants, without any prior knowledge of the Japanese language, learned to associate hiragana characters with button responses. In the novel condition, 50 participants learned visual-motor associations without any prior exposure to the stimuli’s visual attributes. In the familiar condition, a different set of 50 participants completed a session in which they first became familiar with the stimuli’s visual appearance prior to completing the visual-motor association learning task. Participants with higher AQ scores had a clear advantage in the novel condition; the amount of training required reaching learning criterion correlated negatively with AQ. In contrast, participants with lower AQ scores had a clear advantage in the familiar condition; the amount of training required to reach learning criterion correlated positively with AQ. An examination of how each of the AQ subscales correlated with these learning patterns revealed that abilities in visual discrimination-which is known to depend on the visual ventral-stream system-may have afforded an advantage in the novel condition for the participants with the higher AQ scores, whereas abilities in attention switching-which are known to require mechanisms in the prefrontal cortex-may have afforded an advantage in the familiar condition for the participants with the lower AQ scores.
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12. Scremin OU, Roch M, Norman KM, Djazayeri S, Liu YY. {{Brain acetylcholine and choline concentrations and dynamics in a murine model of the fragile x syndrome: age, sex and region specific changes}}. {Neuroscience};2015 (Jun 24)
Fragile X syndrome is a learning disability caused by excess of CGG repeats in the 5′ untranslated region of the Fragile X gene (FMR1) silencing its transcription and translation. We used a murine model of this condition, Fmr1 knock-out mice (KO) to study the acetylcholine (ACh) metabolism and compared it to that of wild type control mice (WT). Brain endogenous ACh (D0ACh), free choline (D0Ch), their deuterated variants D4ACh and D4Ch and mole ratios (AChMR and ChMR) were measured by gas chromatography-mass spectrometry in the cerebral hemisphere, cerebral cortex, hippocampus and cerebellum, following D4Ch administration. Regression analysis indicated a significant decrease with age (negative slope) of D4ACh, AChMR, D4Ch and ChMR in WT mice. Age dependence was only present for D4ACh and AChMR in KO mice. Analysis of variance with age as covariate indicated a significant greater D4Ch in the cerebral cortex of KO females when compared to WT females. Contrasts between sexes within genotypes indicated lower D0Ch in cortex and cerebellum of female KO mice but not in WT and lower D4Ch in hippocampus of female KO and WT mice. In conclusion, after adjusting for age, endogenous ACh concentrations and synthesis from deuterium labeled Ch were similar in KO and control WT mice in all brain regions. In contrast, significant changes in Ch dynamics were found in hippocampus and cerebral cortex of KO mice that might contribute to the pathogenesis of FXS.
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13. Shepherd CA, Waddell C. {{A Qualitative Study of Autism Policy in Canada: Seeking Consensus on Children’s Services}}. {J Autism Dev Disord};2015 (Jun 24)
Canadian autism policy has been unusually contentious, with parents resorting to litigation to secure services for their children in several provinces. To ascertain whether consensus was possible on improving services, we conducted an in-depth qualitative interview study with 39 parents, policymakers and researchers across the country. Parents vividly described the stresses of caring for their children, with considerable sympathy from researchers. Policymakers in turn struggled to balance the needs of all children. Yet participants agreed on the need for more comprehensive services across the spectrum and throughout the lifespan, and on the need to « do more for all » children. Our findings suggest that there is an emerging consensus on improving autism services in Canada-which should greatly benefit children.
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14. Tierney C, Mayes S, Lohs SR, Black A, Gisin E, Veglia M. {{How Valid Is the Checklist for Autism Spectrum Disorder When a Child Has Apraxia of Speech?}}. {J Dev Behav Pediatr};2015 (Jun 24)
OBJECTIVE: Our objective was to determine if the Checklist for Autism Spectrum Disorder (CASD) was inadvertently overemphasizing autism symptoms in a population of children without autism. METHODS: Children noted with communication delays were referred to both a developmental pediatrician and a speech and language pathologist for an apraxia and autism evaluation. All children who underwent both autism and apraxia evaluations and met rule-in or rule-out criteria for both diagnoses were included in the study, resulting in a sample size of 30. RESULTS: Our results show that 63.6% of children initially diagnosed with autism also had apraxia, 36.8% of children initially diagnosed with apraxia also had autism, 23.3% had neither, and 23.3% had both. Overall diagnostic accuracy for the CASD was 96.7%. Overall accuracy for the CASD for children without apraxia was 100% and accuracy for children with apraxia was 94.7%. Specificity for the CASD was 100%, while sensitivity was 90.9%. The PPV was 100% and the NPV was 95.0%. CONCLUSION: This study demonstrates that the CASD does not overemphasize autism symptoms in a population of children without autism. It also shows that autism and apraxia are highly comorbid. Thus, it is important to monitor all children diagnosed with apraxia for signs of autism and all children diagnosed with autism for signs of apraxia. This will help identify children as early as possible and allow them access to services appropriate to their needs.
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15. Tranfaglia MR. {{GABA and Glutamate: The Yin and Yang of Fragile X}}. {Cell Cycle};2015 (Jun 23):0.
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16. Wang M, Chen H, Yu T, Cui G, Jiao A, Liang H. {{Increased serum levels of brain-derived neurotrophic factor in autism spectrum disorder}}. {Neuroreport};2015 (Aug 5);26(11):638-641.
The aim of this study was to investigate the potential role of brain-derived neurotrophic factor (BDNF) in children with autism spectrum disorders (ASD) by measuring serum circulating levels of BDNF as well as calcium and comparing them with age-matched and sex-matched normal controls. The study included 75 drug-naive ASD children and 75 age-sex-matched healthy children. The concentration of serum BDNF was determined using the enzyme-linked immunosorbent assay method at baseline. Clinical information was collected. The severity of ASD was assessed at admission using the Childhood Autism Rating Scale total score. The results indicated that the mean serum BDNF levels were significantly (P<0.0001) higher in children with ASD compared with the control cases (17.59+/-5.55 vs. 11.21+/-2.79 ng/ml; t=8.902). On the basis of the receiver operating characteristic curve, the optimal cutoff value of serum BDNF levels as an indicator for auxiliary diagnosis of autism was projected to be 12.65 ng/ml, which yielded a sensitivity of 80.8% and a specificity of 70.2%; the area under the curve was 0.840 [95% confidence interval (CI), 0.777-0.904]. In univariate logistic regression analysis, with an unadjusted odds ratio of 9.42 (95% CI, 4.33-25.95; P<0.0001), BDNF of 12.65 ng/ml or more had an association with a diagnosis of ASD. After adjusting for possible covariates, BDNF of 12.65 ng/ml or more is still an independent indicator of ASD, with an adjusted odds ratio of 7.33 (95% CI, 2.98-16.55; P<0.0001). Serum BDNF levels may be associated independently with the severity of ASD, and higher BDNF levels could be considered an independent diagnostic marker of ASD.
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17. Wise A, Tenezaca L, Fernandez RW, Schatoff E, Flores J, Ueda A, Zhong X, Wu CF, Simon AF, Venkatesh T. {{Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, impaired adult social behavior and activity patterns}}. {J Neurogenet};2015 (Jun 22):1-34.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder in humans characterized by complex behavioral deficits, including intellectual disability, impaired social interactions and hyperactivity. ASD exhibits a strong genetic component with underlying multi-gene interactions. Candidate gene studies have shown that the neurobeachin gene is disrupted in human patients with idiopathic autism (Castermans et al., 2003). The gene for neurobeachin (NBEA) spans the common fragile site FRA 13A and encodes a signal scaffold protein (Savelyeva et al., 2006). In mice, NBEA has been shown to be involved in the trafficking and function of a specific subset of synaptic vesicles. (Medrihan et al., 2009; Savelyeva, Sagulenko, Schmitt, & Schwab, 2006). rugose (rg) is the Drosophila homologue of the mammalian and human neurobeachin. Our previous genetic and molecular analyses have shown that rg encodes an A kinase anchor protein (DAKAP 550), which interacts with components of the EGFR and Notch mediated signaling pathways, facilitating cross-talk between these and other pathways (Shamloula et al., 2002). We now present functional data from studies on the larval neuromuscular junction that reveal abnormal synaptic architecture and physiology. In addition, adult rg loss-of-function mutants exhibit defective social interactions, impaired habituation, aberrant locomotion and hyperactivity. These results demonstrate that Drosophila neurobeachin (rugose) mutants exhibit phenotypic characteristics reminiscent of human ASD and thus could serve as a genetic model for studying autism spectrum disorders.
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18. Wolf-Fordham S, Curtin C, Maslin M, Bandini L, Hamad CD. {{Emergency preparedness of families of children with developmental disabilities: What public health and safety emergency planners need to know}}. {Am J Disaster Med};2015 (Winter);10(1):23-34.
OBJECTIVE: To assess the emergency preparedness knowledge, behaviors, and training needs of families of children with developmental disabilities (DD). DESIGN: An online survey. PARTICIPANTS: A sample of 314 self-selecting US parents/guardians of children with DD, aged birth-21 years. MAIN OUTCOME MEASURES: 1) Preparedness self-assessment; 2) self-report regarding the extent to which families followed 11 specific preparedness action steps derived from publicly available preparedness guides; and 3) parent training and support needs. RESULTS: Although most participants assessed themselves to be somewhat to moderately well prepared, even those who reported being « very well prepared » had taken fewer than half of 11 recommended action steps. Most participants expressed a need for preparedness support; virtually all the respondents felt that training was either important or very important. CONCLUSIONS: Children with disabilities are known to be particularly vulnerable to negative disaster impacts. Overall, parents in this study appeared under-prepared to meet family disaster needs, although they recognized its importance. The results suggest opportunities and methods for public health and safety planning, education and outreach to parents of children with DD who would benefit from targeted training such as information and skill building to develop effective family preparedness plans and connections to local emergency management and responders.
