1. {{Autism spectrum disorder}}. {Nurs Stand};2015 (May 20);29(38):19.
Essential facts Autism spectrum disorder (ASD) is a lifelong developmental condition affecting social interaction, communication and behaviour. Symptoms vary from person to person and range from mild to severe. Since the 1970s the reported prevalence of ASD has risen substantially, from less than 0.05% of the population to at least 1%. According to the National Autistic Society, about four times as many boys as girls are diagnosed.
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2. Bakos J, Bacova Z, Grant SG, Castejon AM, Ostatnikova D. {{Are Molecules Involved in Neuritogenesis and Axon Guidance Related to Autism Pathogenesis?}}. {Neuromolecular Med};2015 (May 20)
Autism spectrum disorder is a heterogeneous disease, and numerous alterations of gene expression come into play to attempt to explain potential molecular and pathophysiological causes. Abnormalities of brain development and connectivity associated with alterations in cytoskeletal rearrangement, neuritogenesis and elongation of axons and dendrites might represent or contribute to the structural basis of autism pathology. Slit/Robo signaling regulates cytoskeletal remodeling related to axonal and dendritic branching. Components of its signaling pathway (ABL and Cdc42) are suspected to be molecular bases of alterations of normal development. The present review describes the most important mechanisms underlying neuritogenesis, axon pathfinding and the role of GTPases in neurite outgrowth, with special emphasis on alterations associated with autism spectrum disorders. On the basis of analysis of publicly available microarray data, potential biomarkers of autism are discussed.
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3. Bush RA, Stahmer AC, Connelly CD. {{Exploring perceptions and use of the electronic health record by parents of children with autism spectrum disorder: A qualitative study}}. {Health Informatics J};2015 (May 18)
This qualitative project used structured interviews with nine parents to examine perceptions of the electronic health record (EHR) and associated patient portal in the treatment of their child’s autism spectrum disorder. Thematic analysis identified six complementary themes including: Familiarity and exposure to the EHR, changing experience of care (streamlining appointments, providing more rapid medical record access, increasing clinician awareness of the complexity of their child’s medical treatment, and facilitating prescriptions), portal use, patient/EHR/portal interaction, interoperability, and mother as care coordinator. While aware of the patient portal, only one-third had registered to use it and these parents reported only limited use. In general, perceptions of the electronic health record are positive, but the patient portal has yet to have needed consumer adoption. Further research and functionality are needed to increase portal registration and greater portal integration in patient care.
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4. Fang SY, Wang S, Huang N, Yeh HH, Chen CY. {{Prenatal Infection and Autism Spectrum Disorders in Childhood: A Population-Based Case-Control Study in Taiwan}}. {Paediatr Perinat Epidemiol};2015 (May 19)
BACKGROUND: Infection in pregnancy has long been linked with negative postnatal development and health. This study aims to assess the association between prenatal infections and autism spectrum disorders (ASDs) across three trimesters and to probe possible sex heterogeneity in such link. METHOD: A total of 4184 children with incident ASDs and 16 734 matched children were identified from the 2000-2007 National Health Insurance Research Database. For each child, information pertaining to the mother’s infection during pregnancy, sociodemographics, and medical history was retrieved from healthcare records. Conditional logistic analyses were carried out to estimate the strength of associations with adjustment for multiple comparisons. RESULT: Pooled analyses demonstrated that having two or more outpatient visits for genital infection [adjusted odds ratio (aOR): 1.34; 95% confidence interval (95% CI) 1.12, 1.60; false discovery rate (FDR) < 0.01] and bacterial infection (aOR: 1.24; 95% CI 1.06, 1.43; FDR < 0.05) in the third trimester were slightly associated with increased risk of ASDs. No statistically significant sex differences were found. CONCLUSION: The present study contributes updated population-based evidence about the connection between prenatal infection and ASDs. Potential effect of bacterial and genital tract infections during the third trimester on risk of ASDs warrants further exploration.
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5. Gadke DL, McKinney C, Oliveros A. {{Autism Spectrum Disorder Symptoms and Comorbidity in Emerging Adults}}. {Child Psychiatry Hum Dev};2015 (May 21)
Autism spectrum disorder (ASD) continues to grow in prevalence each passing year. As more children are diagnosed, it makes sense that the emerging adult and adult population with ASD also will continue to grow. Although the body of research is quite large for children with ASD, the literature for emerging adults with ASD is sparse in comparison. The current study aimed to extend existing literature further by beginning to explore the realm of emerging adulthood. Specifically, the study investigated the presence of comorbid psychiatric symptoms in emerging adults who also presented with ASD symptoms as measured by the Adult Self-Report (Rescorla and Achenbach in The Achenbach System of Empirically Based Assessment (ASEBA) for ages 18 to 90 years. The use of psychological testing for treatment planning and outcomes assessment: volume 3: instruments for adults, 3rd edn. Lawrence Erlbaum Associates, Mahwah, pp 115-152, 2004). Emerging adults were categorized as having normal, mild, moderate, or severe levels of ASD symptoms and were compared for the presence of comorbid psychiatric symptoms. Overall, results suggested that emerging adults who presented with greater ASD symptom severity were more likely to experience the presence of additional comorbid symptoms.
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6. Ganz JB. {{AAC Interventions for Individuals with Autism Spectrum Disorders: State of the Science and Future Research Directions}}. {Augment Altern Commun};2015 (May 21):1-12.
Augmentative and alternative communication (AAC) provides a means of effective communication to individuals with autism spectrum disorder (ASD), many of whom are unable to use conventional speech effectively. The purposes of this article are (a) to summarize and synthesize the last few decades of research on the use of AAC with people with ASD; (b) to indicate implications of this research for stakeholders such as people with ASD, their family members, and educators with whom they work; and (c) to outline priorities for future research to improve communication and other outcomes for individuals with ASD and their loved ones. People with ASD stand to greatly benefit from AAC, particularly with current AAC technologies, as described in this article.
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7. Goldin RL, Matson JL. {{Premature birth as a risk factor for autism spectrum disorder: Brief report}}. {Dev Neurorehabil};2015 (May 20):1-4.
OBJECTIVE: Autism spectrum disorder (ASD) is common, life-long in nature, and can be very debilitating. Thus, an intensive search is on to identify the potential risk factors for the disorder. Premature birth has been identified as one potential factor that could influence potential symptoms of ASD. METHOD: The sample for this study consisted of 1655 at risk children for developmental delays who were 17-37 months of age. Participants were divided into those diagnosed with ASD (n = 916) and children with atypical development only (n = 739). RESULTS: Premature births were almost twice as common for the atypical development group versus the ASD group. CONCLUSIONS: Implications of these data are discussed.
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8. Gu X, Eilam-Stock T, Zhou T, Anagnostou E, Kolevzon A, Soorya L, Hof PR, Friston KJ, Fan J. {{Autonomic and brain responses associated with empathy deficits in autism spectrum disorder}}. {Hum Brain Mapp};2015 (May 21)
Accumulating evidence suggests that autonomic signals and their cortical representations are closely linked to emotional processes, and that related abnormalities could lead to social deficits. Although socio-emotional impairments are a defining feature of autism spectrum disorder (ASD), empirical evidence directly supporting the link between autonomic, cortical, and socio-emotional abnormalities in ASD is still lacking. In this study, we examined autonomic arousal indexed by skin conductance responses (SCR), concurrent cortical responses measured by functional magnetic resonance imaging, and effective brain connectivity estimated by dynamic causal modeling in seventeen unmedicated high-functioning adults with ASD and seventeen matched controls while they performed an empathy-for-pain task. Compared to controls, adults with ASD showed enhanced SCR related to empathetic pain, along with increased neural activity in the anterior insular cortex, although their behavioral empathetic pain discriminability was reduced and overall SCR was decreased. ASD individuals also showed enhanced correlation between SCR and neural activities in the anterior insular cortex. Importantly, significant group differences in effective brain connectivity were limited to greater reduction in the negative intrinsic connectivity of the anterior insular cortex in the ASD group, indicating a failure in attenuating anterior insular responses to empathetic pain. These results suggest that aberrant interoceptive precision, as indexed by abnormalities in autonomic activity and its central representations, may underlie empathy deficits in ASD. Hum Brain Mapp, 2015. (c) 2015 Wiley Periodicals, Inc.
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9. Janvier YM, Harris JF, Coffield CN, Louis B, Xie M, Cidav Z, Mandell DS. {{Screening for autism spectrum disorder in underserved communities: Early childcare providers as reporters}}. {Autism};2015 (May 19)
Early diagnosis of autism typically is associated with earlier access to intervention and improved outcomes. Daycares and preschools largely have been ignored as possible venues for early identification. This may be especially important for minority children in the United States who are typically diagnosed with autism later than White children, limiting their access to early specialized interventions and possibly resulting in poorer outcomes. Early childcare providers within underserved communities completed autism screening tools for a sample of low-risk young children (n = 967) in their programs. Early childcare providers returned screening tools for 90% of the children for whom parental consent had been received. A total of 14% of children screened positive for autism spectrum disorder and 3% of the sample met criteria for autism spectrum disorder. Among those who screened positive, 34% were lost to follow-up. Findings suggest that early childcare providers can effectively screen young children for autism spectrum disorder in preschool/daycare settings, thus improving access to early diagnosis and reducing potential healthcare disparities among underserved populations.
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10. Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K. {{High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells}}. {Stem Cells Transl Med};2015 (May 21)
Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X mental retardation protein (FMRP). In most patients, the absence of FMRP is due to an aberrant transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene. FXS has no cure, and the available treatments only provide symptomatic relief. Given that FMR1 gene silencing in FXS patient cells can be partially reversed by treatment with compounds that target repressive epigenetic marks, restoring FMRP expression could be one approach for the treatment of FXS. We describe a homogeneous and highly sensitive time-resolved fluorescence resonance energy transfer assay for FMRP detection in a 1,536-well plate format. Using neural stem cells differentiated from an FXS patient-derived induced pluripotent stem cell (iPSC) line that does not express any FMRP, we screened a collection of approximately 5,000 known tool compounds and approved drugs using this FMRP assay and identified 6 compounds that modestly increase FMR1 gene expression in FXS patient cells. Although none of these compounds resulted in clinically relevant levels of FMR1 mRNA, our data provide proof of principle that this assay combined with FXS patient-derived neural stem cells can be used in a high-throughput format to identify better lead compounds for FXS drug development.
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11. Lauer E, McCallion P. {{Mortality of People with Intellectual and Developmental Disabilities from Select US State Disability Service Systems and Medical Claims Data}}. {J Appl Res Intellect Disabil};2015 (May 21)
BACKGROUND: Monitoring population trends including mortality within subgroups such as people with intellectual and developmental disabilities and between countries provides crucial information about the population’s health and insights into underlying health concerns and the need for and effectiveness of public health efforts. METHODS: Data from both US state intellectual and developmental disabilities service system administrative data sets and de-identified state Medicaid claims were used to calculate average age at death and crude mortality rates. RESULTS: Average age at death for people in state intellectual and developmental disabilities systems was 50.4-58.7 years and 61.2-63.0 years in Medicaid data, with a crude adult mortality rate of 15.2 per thousand. CONCLUSIONS: Age at death remains lower and mortality rates higher for people with intellectual and developmental disabilities. Improved case finding (e.g. medical claims) could provide more complete mortality patterns for the population with intellectual and developmental disabilities to inform the range of access and receipt of supportive and health-related interventions and preventive care.
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12. Rumbak DM, Mowrey W, Schwartz SW, Sarwahi V, Djukic A, Killinger JS, Katyal C. {{Spinal Fusion for Scoliosis in Rett Syndrome With an Emphasis on Respiratory Failure and Opioid Usage}}. {J Child Neurol};2015 (May 19)
Our objective was to characterize our experience with 8 patients with Rett syndrome undergoing scoliosis surgery in regard to rates of respiratory failure and rates of ventilator-acquired pneumonia in comparison to patients with neurologic scoliosis and adolescent idiopathic scoliosis. This study was a retrospective chart review of patients undergoing scoliosis surgery at a tertiary children’s hospital. Patients were divided into 3 groups: (1) adolescent idiopathic scoliosis, (2) neurologic scoliosis, and (3) Rett syndrome. There were 133 patients with adolescent idiopathic scoliosis, 48 patients with neurologic scoliosis, and 8 patients with Rett syndrome. We found that patients with Rett syndrome undergoing scoliosis surgery have higher rates of respiratory failure and longer ventilation times in the postoperative period when compared with both adolescent idiopathic scoliosis and neurologic scoliosis patients. There is insufficient evidence to suggest a difference in the incidence of ventilator-acquired pneumonia between the Rett syndrome and the neurologic scoliosis group. We believe our findings are the first in the literature to show a statistically significant difference between these 3 groups in regard to incidence of respiratory failure.
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13. Takano T. {{Role of Microglia in Autism: Recent Advances}}. {Dev Neurosci};2015 (May 21)
The neurobiological basis for autism remains poorly understood. However, the neuroinflammation processes play an important role in the induction of autistic behavioral changes. Microglial cells can exhibit widely differing functions during brain development, including synaptogenesis and stem cell proliferation, in addition to playing a role in the innate immunity. Mounting evidence indicates that microglial activation or dysfunction can profoundly affect neural development, resulting in neurodevelopmental disorders, including autism. These mechanisms in autism have been investigated using neuropathological studies of human autopsy brains, a large number of murine experimental models and in vivo neuroimaging studies of the human brain. The purpose of this review is to discuss microglial activation or dysfunction and to highlight the detrimental role that microglia play in the development of autism. The recent advances presented in this review support that further elucidation of the mechanisms and kinetics of microglial responses will help to establish a window for therapeutic intervention in individuals with autism. (c) 2015 S. Karger AG, Basel.
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14. Walton KM, Ingersoll BR. {{The utility of Thin Slice ratings for predicting language growth in children with autism spectrum disorder}}. {Autism};2015 (May 19)
Literature on « Thin Slice » ratings indicates that a number of personality characteristics and behaviors can be accurately predicted by ratings of very short segments (<5 min) of behavior. This study examined the utility of Thin Slice ratings of young children with autism spectrum disorder for predicting developmental skills and language gains over time. A total of 22 preschool-aged children with autism spectrum disorder participated in a battery of developmental assessments and a video-taped therapist-child interaction at Time 1. They then participated in follow-up testing of language skills and a second therapist-child interaction 6 months later (Time 2). Groups of approximately 25 naive undergraduate students provided impression ratings (« Thin Slice ratings ») about each child’s skills and behaviors during 2-min segments taken from the therapist-child interaction videos at each time point. Thin Slice ratings at Time 1 were highly correlated with child scores on several developmental assessments at Time 1. In addition, Thin Slice ratings at Time 1 predicted gain in parent-reported expressive vocabulary over the course of 6 months, over and above the predictive utility of Time 1 vocabulary size. These findings provide preliminary evidence for the concurrent and predictive validity of Thin Slice ratings in young children with autism spectrum disorder.
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15. Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vigneau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gartner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA. {{Wild-type microglia do not reverse pathology in mouse models of Rett syndrome}}. {Nature};2015 (May 21);521(7552):E1-4.
