1. {{Circumcision and autism}}. {Arch Dis Child}. 2015.
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2. Ch’ng C, Kwok W, Rogic S, Pavlidis P. {{Meta-Analysis of Gene Expression in Autism Spectrum Disorder}}. {Autism Res}. 2015.
Autism spectrum disorders (ASD) are clinically heterogeneous and biologically complex. In general it remains unclear, what biological factors lead to changes in the brains of autistic individuals. A considerable number of transcriptome analyses have been performed in attempts to address this question, but their findings lack a clear consensus. As a result, each of these individual studies has not led to any significant advance in understanding the autistic phenotype as a whole. Here, we report a meta-analysis of more than 1000 microarrays across twelve independent studies on expression changes in ASD compared to unaffected individuals, in both blood and brain tissues. We identified a number of known and novel genes that are consistently differentially expressed across three studies of the brain (71 samples in total). A subset of the highly ranked genes is suggestive of effects on mitochondrial function. In blood, consistent changes were more difficult to identify, despite individual studies tending to exhibit larger effects than the brain studies. Our results are the strongest evidence to date of a common transcriptome signature in the brains of individuals with ASD. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL. {{Treatment of cardiac arrhythmias in Rett Syndrome with sodium channel blocking antiepileptic drugs}}. {Dis Model Mech}. 2015.
One quarter of deaths in Rett Syndrome (RTT), an X-linked neurodevelopmental disorder, are sudden and unexpected. RTT is associated with prolonged QTc interval (LQT), and LQT-associated cardiac arrhythmias are a potential cause of unexpected death. Standard of care for LQT in RTT is treatment with beta-adrenergic antagonists; however, recent work indicates that acute treatment of mice with RTT with a beta-antagonist, propranolol, did not prevent lethal arrhythmias. In contrast, acute treatment with a sodium channel blocker, phenytoin, prevented arrhythmias. Chronic dosing of propranolol may be required for efficacy; therefore, we tested the efficacy of chronic treatment with either propranolol or phenytoin on RTT mice. Phenytoin completely abolished arrhythmias, whereas propranolol showed no benefit. Surprisingly, phenytoin also normalized weight and activity, but worsened breathing patterns. To explore the role of sodium channel blockers on QT in people with RTT, we performed a retrospective analysis of QT status before and after sodium channel blocker antiepileptic therapies. Individuals with RTT and LQT significantly improved their QT interval status after being started on sodium channel blocker antiepileptic therapies. Thus, sodium channel blockers should be considered for the clinical management of LQT in individuals with RTT.
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4. Kerns CM, Newschaffer CJ, Berkowitz SJ. {{Traumatic Childhood Events and Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
Traumatic childhood events are associated with a wide range of negative physical, psychological and adaptive outcomes over the life course and are one of the few identifiable causes of psychiatric illness. Children with autism spectrum disorder (ASD) may be at increased risk for both encountering traumatic events and developing traumatic sequelae; however, this topic has been understudied. This review considers the rationale for examining traumatic events and related symptomology in individuals with ASD and summarizes the limited research on this topic. A conceptual framework for understanding the interplay of ASD, trauma and traumatic sequelae is proposed and recommendations for future research presented.
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5. Kover ST, McCary LM, Ingram AM, Hatton DD, Roberts JE. {{Language development in infants and toddlers with fragile x syndrome: change over time and the role of attention}}. {Am J Intellect Dev Disabil}. 2015; 120(2): 125-44.
Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of 9 to 24 months, with moderate correlations among language assessments. In comparison to typically developing infants (n = 11), language skills were delayed beyond chronological age and developmental-level expectations. Aspects of early visual attention predicted later language ability. Atypical visual attention is an important aspect of the FXS phenotype with implications for early language development, particularly in the domain of vocabulary.
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6. Lyall K, Van de Water J, Ashwood P, Hertz-Picciotto I. {{Asthma and Allergies in Children With Autism Spectrum Disorders: Results From the CHARGE Study}}. {Autism Res}. 2015.
Immune aberrations are often noted in children with autism spectrum disorder (ASD), but whether asthma and allergy are related to ASD is not well defined. This study examined asthma and allergies in association with ASD and phenotypic subsets. Participants were 560 children with confirmed ASD and 391 typically developing children from the CHildhood Autism Risks from Genetics and the Environment study. Maternally reported child asthma and allergy was compared between cases and controls, and in association with cognitive and behavioral test scores. Prevalence of asthma and overall allergies did not differ between cases and controls, but overall allergy in children with ASD was associated with higher stereotypy scores as measured by the Aberrant Behavior Checklist. In addition, reported food allergies were significantly associated with ASD (adjusted odds ratio = 2.23, 95% confidence interval 1.28, 3.89). Our results suggest food allergies and sensitivities may be more common in children with ASD, and that these issues may correlate with other behaviors. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Nelson CA. {{Commentary: Developmental origins of autism and ADHD – a commentary on Johnson et al. ()}}. {J Child Psychol Psychiatry}. 2015; 56(3): 248-50.
Autism (autistic spectrum disorder, ASD) and attention deficit hyperactivity disorder (ADHD) are two highly prevalent neurodevelopmental disorders. Current estimates for autism exceed 1% For ADHD, the 2013 US-based life time prevalence figure is 11%. Both disorders are also highly heritable. Intriguingly, approximately 50% of children with ASD also meet criteria for ADHD. Between their high heritability and comorbidity, some have wondered whether these two seemingly different disorders might in fact be related at some deep neurobiological level. The notion that these two disorders may be related is surprising when one considers the fact that autism generally appears in the first 1-2 years of life, whereas it is virtually impossible to identify ADHD during this time frame; indeed, inattentiveness and hyperactivity tend to be traits that are shared by nearly all toddlers, making a stable diagnosis of ADHD virtually impossible until early childhood (although a reliable diagnosis can generally be made during the preschool period). Like many neurodevelopmental disorders, early identification and early treatment are essential to easing the life time burden of these disorders. Of course, early treatment is predicated on early identification and it is for this reason that the review article by Johnson and colleagues is so intriguing, as it sets out to determine whether these disorders can be identified in the infancy period. It also raises a number of puzzling issues that remain undiscussed.
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8. Parish SL, Thomas KC, Williams CS, Crossman MK. {{Autism and families’ financial burden: the association with health insurance coverage}}. {Am J Intellect Dev Disabil}. 2015; 120(2): 166-75.
We examined the relationship between family financial burden and children’s health insurance coverage in families (n = 316) raising children with autism spectrum disorders (ASD), using pooled 2000-2009 Medical Expenditure Panel Survey data. Measures of family financial burden included any out-of-pocket spending in the previous year, and spending as a percentage of families’ income. Families spent an average of $9.70 per $1,000 of income on their child’s health care costs. Families raising children with private insurance were more than 5 times as likely to have any out-of-pocket spending compared to publicly insured children. The most common out-of-pocket expenditure types were medications, outpatient services, and dental care. This study provides evidence of the relative inadequacy of private insurance in meeting the needs of children with ASD.
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9. Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. {{A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype}}. {Neuroreport}. 2015.
This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical Rett syndrome (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features). Mutation analyses for methyl-CpG-binding protein 2 (MECP2), cyclin-dependent kinase-like 5 (CDKL5/STK9), ARX and Forkhead box G1 (FOXG1) genes were carried out, with negative results. A known de-novo c.1217G>A missense mutation in exon 14 leading to the substitution of a conserved residue, p.R406H in domain3b of the syntaxin-binding protein 1 (STXBP1) gene, was detected. The STXBP1 gene encodes the syntaxin-binding protein 1, a neuron-specific protein involved in synaptic vesicle release at both glutaminergic and GABAergic synapses. This function is also affected by MECP2 gene mutations, which are known to lead to a decrease in glutamate and GABA receptors’ density. It is possible to speculate that the impairment in synaptic plasticity represents the pathogenic link between MECP2 and STXBP1 gene mutations. On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype. In conclusion, the case described here suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy.
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10. Samson AC, Hardan AY, Lee IA, Phillips JM, Gross JJ. {{Maladaptive Behavior in Autism Spectrum Disorder: The Role of Emotion Experience and Emotion Regulation}}. {J Autism Dev Disord}. 2015.
Maladaptive behavior is common in Autism Spectrum Disorder (ASD). However, the factors that give rise to maladaptive behavior in this context are not well understood. The present study examined the role of emotion experience and emotion regulation in maladaptive behavior in individuals with ASD and typically developing (TD) participants. Thirty-one individuals with ASD and 28 TD participants and their parents completed questionnaires assessing emotion experience, regulation, and maladaptive behavior. Compared to TD participants, individuals with ASD used cognitive reappraisal less frequently, which was associated with increased negative emotion experience, which in turn was related to greater levels of maladaptive behavior. By decreasing negative emotions, treatments targeting adaptive emotion regulation may therefore reduce maladaptive behaviors in individuals with ASD.
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11. Semrud-Clikeman M, Fine JG, Bledsoe J. {{Social functioning using direct and indirect measures with children with High Functioning Autism, nonverbal learning disability, and typically developing children}}. {Child Neuropsychol}. 2015: 1-18.
Social perception is an important underlying foundation for emotional development and overall adaptation. The majority of studies with children with High Functioning Autism (HFA) or nonverbal learning disabilities (NLD) evaluating social functioning have used measures of parent and/or teacher ratings. The present study utilized parent and teacher ratings of behavior as well as executive functioning in addition to direct measures of social perception. Three groups participated in this study (control [n = 38] HFA [n = 36], NLD [n = 31]). Results indicated that the HFA group experienced the most difficulty understanding emotional cues on the direct measure while both the HFA and NLD groups experienced difficulty with nonverbal cues. Significant difficulties were reported on the parent rating scale for sadness and social withdrawal for both clinical groups. Executive functioning was found to be particularly problematic for the clinical groups. The direct social perception measure was highly correlated with the measures of executive functioning and reflects the contribution that executive functions have on social functioning. These findings suggest that the clinical presentation on behavior rating scales may be very similar for children with HFA and NLD. Moreover, it appears that measures of executive functioning are sensitive to the clinical difficulties these groups experience. The findings also suggest there is a commonality in these disorders that warrants further investigation.
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12. Vasconcellos-Silva PR, Castiel LD, Griep RH. {{The media-driven risk society, the anti-vaccination movement and risk of autismo}}. {Cien Saude Colet}. 2015; 20(2): 607-16.
Marked changes have been seen in the epidemiological profile of infectious diseases among middle-class families in industrialized countries due to beliefs related to the risks of vaccination. These beliefs are proliferating globally due to internet sites, blogs and the influence of celebrities in the mass communication media. Due to the complexity of a cultural phenomenon of this nature, contemporary concepts aligned to the idea of reflexivity in the risk society are analyzed. The concept of a receptive media-driven society in which the announcement of danger and protection in mutual reference and contradiction are also assessed. The frequent emergence of tensions derived from cycles of utterances and baseless comments construed as symbolic « biovalues » are discussed. The persistent effect of threatening biotechnological and fraudulent utterances has influenced virtual networks for almost three decades, supporting the debate about the connection between autism and vaccines. The conclusion reached is that the processes of production of significance interconnect at various levels in which representations circulate that support communication and group identity based on historical and cultural references.
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13. Yan CL, Zhang J, Hou Y. {{Decreased plasma levels of lipoxin A4 in children with autism spectrum disorders}}. {Neuroreport}. 2015.
The aim of this study was to evaluate the plasma levels of lipoxin A4 (LXA4), a mediator involved in the resolution of inflammation in Chinese children with autism spectrum disorders (ASD). From January 2013 to June 2014, a total of 150 children (75 confirmed ASD cases and 75 their age-matched and sex-matched control cases) participated in this study after consent was obtained from their parents. Clinical information was collected. Plasma levels of LXA4 were measured at baseline. The severity of ASD was assessed at admission using the Childhood Autism Rating Scale total score. The results indicated that the mean plasma levels of LXA4 were significantly lower in autistic children compared with the normal children (P<0.0001). There was a significant negative relationship between circulating LXA4 levels and severity of autism evaluated by Childhood Autism Rating Scale scores (P=0.006) after adjustment for the possible covariates. On the basis of the receiver operating characteristic curve, the optimal cutoff value of plasma LXA4 levels as an indicator for an auxiliary diagnosis of ASD was projected to be 81.5 pg/ml, which yielded a sensitivity of 90.7% and a specificity of 76.0%, with the area under the curve at 0.911 (95% confidence interval, 0.867-0.955). These results suggested that autistic children had lower plasma LXA4 levels, suggesting an increased susceptibility to recurring inflammation in these samples.
