1. Al-Farsi OA, Al-Farsi YM, Al-Sharbati MM, Al-Adawi S. {{Stress, anxiety, and depression among parents of children with autism spectrum disorder in Oman: a case-control study}}. {Neuropsychiatr Dis Treat}. 2016; 12: 1943-51.
Previous studies carried out in Euro-American populations have unequivocally indicated that psychological disorders of the CASD (caregivers of children with autism spectrum disorder) are marked with high levels of stress, anxiety, and depression. This finding has been attributed to the reaction of having to care for a child with neurodevelopmental disorders. While there have been reports on autism spectrum disorder in Arab/Islamic countries such as Oman, there is no study from this region, to our knowledge, reporting the performance of indices of stress, anxiety, and depression among CASD. This study aimed to examine whether there is variation in the performance of indices of stress, depression, and anxiety explored via Depression, Anxiety and Stress Scale 21 among CASD, caregivers of children with intellectual disabilities, and caregivers of typically developing children. All indices of stress, depression, and anxiety were higher in CASD compared to other caregivers in the control group. This study corroborates with other studies carried out in other populations that caring for children impacts the mental health status of caregivers. Therefore, there are strong grounds to contemplate the mechanism to help such a vulnerable group of family caregivers.
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2. Bonardi A, Clifford CJ, Hadar N. {{A Structured Approach Using the Systematic Review Data Repository (SRDR): Building the Evidence for Oral Health Interventions in the Population With Intellectual and Developmental Disability}}. {Eval Rev}. 2016.
BACKGROUND: This review describes the methods used for a systematic review of oral health intervention literature in a target population (people with intellectual and developmental disability (I/DD)), which spans a broad range of interventions and study types, conducted with specialized software. OBJECTIVE: The aim of this article is to demonstrate the review strategy, using the free, online systematic review data repository (SRDR) tool, for oral health interventions aimed at reducing disparities between people with I/DD and the general population. RESEARCH DESIGN: Researchers used online title/abstract review (Abstrackr) and data extraction (SRDR) tools to structure the literature review and data extraction. A practicing clinician and an expert methodologist completed the quality review for each study. The data extraction team reported on the experience of using and customizing the SRDR. RESULTS: Using the SRDR, the team developed four extraction templates for eight key questions and completed extraction on 125 articles. CONCLUSIONS: This report discusses the advantages and disadvantages of using an electronic tool, such as the SRDR, in completing a systematic review in an area of growing research. This review provides valuable insight for researchers who are considering the use of the SRDR.
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3. Estes ML, McAllister AK. {{Maternal immune activation: Implications for neuropsychiatric disorders}}. {Science}. 2016; 353(6301): 772-7.
Epidemiological evidence implicates maternal infection as a risk factor for autism spectrum disorder and schizophrenia. Animal models corroborate this link and demonstrate that maternal immune activation (MIA) alone is sufficient to impart lifelong neuropathology and altered behaviors in offspring. This Review describes common principles revealed by these models, highlighting recent findings that strengthen their relevance for schizophrenia and autism and are starting to reveal the molecular mechanisms underlying the effects of MIA on offspring. The role of MIA as a primer for a much wider range of psychiatric and neurologic disorders is also discussed. Finally, the need for more research in this nascent field and the implications for identifying and developing new treatments for individuals at heightened risk for neuroimmune disorders are considered.
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4. Germani T, Zwaigenbaum L, Magill-Evans J, Hodgetts S, Ball G. {{Stakeholders’ perspectives on social participation in preschool children with Autism Spectrum Disorder}}. {Dev Neurorehabil}. 2016: 1-8.
OBJECTIVE: To determine (a) the essential components of social participation for preschool children with Autism Spectrum Disorder (ASD) using stakeholders’ perspectives and (b) the facilitators and barriers experienced in promoting social participation. METHODS: A mixed-methods, web-based survey utilizing the International Classification of Functioning, Disability and Health – Child and Youth version (ICF-CY) taxonomy was circulated across Canada through purposeful snowball sampling. RESULTS: Frequency analysis of the combined responses of 74 stakeholders revealed the most essential components of social participation were: (a) behavior management, (b) social interactions, and (c) various types of play. Further, content analysis revealed that stakeholders used intrinsic motivation strategies and contingency management to facilitate social participation. CONCLUSION: Stakeholders reported that the purpose of social participation was to engage the child in fun, enjoyable social activities that developed relationships between the child and peers and created a sense of belonging in the community.
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5. Hillenmeyer S, Davis LK, Gamazon ER, Cook EH, Cox NJ, Altman RB. {{STAMS: STRING-Assisted Module Search for Genome Wide Association Studies and Application to Autism}}. {Bioinformatics}. 2016.
MOTIVATION: Analyzing genome wide association data in the context of biological pathways helps us understand how genetic variation influences phenotype and increases power to find associations. However, the utility of pathway-based analysis tools is hampered by undercuration and reliance on a distribution of signal across all of the genes in a pathway. Methods that combine genome wide association results with genetic networks to infer the key phenotype-modulating subnetworks combat these issues, but have primarily been limited to network definitions with yes/no labels for gene-gene interactions. A recent method (EW_dmGWAS) incorporates a biological network with weighted edge probability by requiring a secondary phenotype-specific expression dataset. In this paper, we combine an algorithm for weighted-edge module searching and a probabilistic interaction network in order to develop a method, STAMS, for recovering modules of genes with strong associations to the phenotype and probable biologic coherence. Our method builds on EW_dmGWAS but does not require a secondary expression dataset and performs better in six test cases. RESULTS: We show that our algorithm improves over EW_dmGWAS and standard gene-based analysis by measuring precision and recall of each method on separately identified associations. In the Wellcome Trust Rheumatoid Arthritis study, STAMS-identified modules were more enriched for separately identified associations than EW_dmGWAS (STAMS p-value 3.0×10-4; EW_dmGWAS- p-value=0.8). We demonstrate that the area under the Precision-Recall curve is 5.9 times higher with STAMS than EW_dmGWAS run on the Wellcome Trust Type 1 Diabetes data. AVAILABILITY: STAMS is implemented as an R package and is freely available at https://simtk.org/projects/stams CONTACT: rbaltman@stanford.edu.
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6. Leslie DL, Iskandarani K, Dick AW, Mandell DS, Yu H, Velott D, Agbese E, Stein BD. {{The Effects of Medicaid Home and Community-based Services Waivers on Unmet Needs Among Children With Autism Spectrum Disorder}}. {Med Care}. 2016.
BACKGROUND: Several states have passed Medicaid Home and Community-based Services (HCBS) waivers that expand eligibility criteria and available services for children with autism spectrum disorder (ASD). Previous research has shown considerable variation in these waivers, but little is known about the extent to which they address the health care needs of children with ASD. OBJECTIVE: To determine the effects of Medicaid HCBS waivers, and their characteristics, on unmet health care needs among children with ASD. METHODS: We used data from the 2003, 2007, and 2011 waves of the National Survey of Children’s Health with detailed information on the Medicaid HCBS waiver programs of 35 states. Quasi-difference-in-difference-in-differences models were used to determine the effects of waivers and their characteristics on parent report of unmet health care needs of children with ASD compared with children without ASD. RESULTS: Greater waiver cost limits per child, estimated costs of services, and enrollment limits were associated with significant decreases in the adjusted rate of unmet health care needs, with considerable variation by household income level. CONCLUSIONS: These findings suggest that Medicaid HCBS waivers significantly decrease the unmet need for health care among children with ASD, most substantially among those who would not otherwise qualify for Medicaid. The findings regarding the effects of specific aspects of these waivers can inform the development of insurance policies in other states to address the needs of children with ASD.
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7. Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfo E, Dopazo J, Jurado P, Armstrong J, Esteller M. {{Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype}}. {Hum Genet}. 2016.
Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in the customarily studied genes. Candidates were functionally validated by assessing the appearance of a neurological phenotype in Caenorhabditis elegans upon disruption of the corresponding ortholog gene. We detected pathogenic variants that accounted for the RTT-like phenotype in 14 (66.6 %) patients. Five patients were carriers of mutations in genes already known to be associated with other syndromic neurodevelopmental disorders. We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5). Furthermore, worm assays demonstrated that mutations in the studied candidate genes caused locomotion defects. Our findings indicate that mutations in a variety of genes contribute to the development of RTT-like phenotypes.
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8. Lysaght R, Petner-Arrey J, Howell-Moneta A, Cobigo V. {{Inclusion Through Work and Productivity for Persons with Intellectual and Developmental Disabilities}}. {J Appl Res Intellect Disabil}. 2016.
BACKGROUND: Employment provides an important avenue to social inclusion for most adults. A range of productivity options exist for persons with intellectual and developmental disabilities (IDD) who wish to work, each offering unique challenges relative to inclusion. METHODS: This qualitative study examined the productivity experiences of people with intellectual and developmental disabilities in Ontario, Canada. A purposive sample of 74 individuals with productivity experiences spanning the spectrum of no employment to community-based jobs was selected from a pool of volunteers recruited through a mailed survey. Semi-structured interviews were conducted with individuals and family members. Interview transcripts were subjected to a team-based analysis using grounded theory methods. RESULTS: Varying needs and interests exist in regard to work. Participants revealed a multitude of factors contributing to inclusion and exclusion through productivity. CONCLUSIONS: Productivity, whether paid or unpaid, can be an avenue to social inclusion. The experience of inclusion, particularly of belonging, depends on a successfully negotiated congruence between worker attributes and the social features and demands of the work environment.
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9. Meltzer A, Van de Water J. {{The Role of the Immune System in Autism Spectrum Disorder}}. {Neuropsychopharmacology}. 2016.
Autism is a neurodevelopmental disorder characterized by deficits in communication and social skills as well as repetitive and stereotypical behaviors. While much effort has focused on the identification of genes associated with autism, research emerging within the past two decades suggests that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in Autism Spectrum Disorders (ASD). Further, it is the heterogeneity within this disorder that has brought to light much of the current thinking regarding the subphenotypes within ASD and how the immune system is associated with these distinctions. This review will focus on the two main axes of immune involvement in ASD, namely dysfunction in the prenatal and postnatal periods. During gestation, prenatal insults including maternal infection and subsequent immunological activation may increase the risk of autism in the child. Similarly, the presence of maternally derived anti-brain autoantibodies found in approximately 20% of mothers whose children are at risk for developing autism has defined an additional subphenotype of ASD. The postnatal environment, on the other hand, is characterized by related but distinct profiles of immune dysregulation, inflammation, and endogenous autoantibodies that all persist within in the affected individual. Further definition of the role of immune dysregulation in ASD thus necessitates a deeper understanding of the interaction between both maternal and child immune systems, and the role they play in diagnosis and treatment.Neuropsychopharmacology Reviews accepted article preview online, 18 August 2016. doi:10.1038/npp.2016.158.
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10. Pin TW, Chan WL, Chan CL, Foo KH, Fung KH, Li LK, Tsang TC. {{Clinical transition for adolescents with developmental disabilities in Hong Kong: a pilot study}}. {Hong Kong Med J}. 2016.
INTRODUCTION: Children with developmental disabilities usually move from the paediatric to adult health service after the age of 18 years. This clinical transition is fragmented in Hong Kong. There are no local data for adolescents with developmental disabilities and their families about the issues they face during the clinical transition. This pilot study aimed to explore and collect information from adolescents with developmental disabilities and their caregivers about their transition from paediatric to adult health care services in Hong Kong. METHODS: This exploratory survey was carried out in two special schools in Hong Kong. Convenient samples of adolescents with developmental disabilities and their parents were taken. The questionnaire was administered by interviewers in Cantonese. Descriptive statistics were used to analyse the answers to closed-ended questions. Responses to open-ended questions were summarised. RESULTS: In this study, 22 parents (mean age +/- standard deviation: 49.9 +/- 10.0 years) and 13 adolescents (19.6 +/- 1.0 years) completed the face-to-face questionnaire. The main diagnoses of the adolescents were cerebral palsy (59%) and cognitive impairment (55%). Of the study parents, 77% were reluctant to transition. For the 10 families who did move to adult care, 60% of the parents were not satisfied with the services. The main reasons were reluctant to change and dissatisfaction with the adult medical service. The participants emphasised their need for a structured clinical transition service to support them during this challenging time. CONCLUSIONS: This study is the first in Hong Kong to present preliminary data on adolescents with developmental disabilities and their families during transition from paediatric to adult medical care. Further studies are required to understand the needs of this population group during clinical transition.
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11. Povey C. {{Helping children on the autism spectrum deal with hospital admissions}}. {Arch Dis Child}. 2016.
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12. Simas T, Suckling J. {{Commentary: Semi-Metric Topology of the Human Connectome: Sensitivity and Specificity to Autism and Major Depressive Disorder}}. {Front Neurosci}. 2016; 10: 353.
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13. Smith AD, Kenny L, Rudnicka A, Briscoe J, Pellicano E. {{Drawing Firmer Conclusions: Autistic Children Show No Evidence of a Local Processing Bias in a Controlled Copying Task}}. {J Autism Dev Disord}. 2016.
Drawing tasks are frequently used to test competing theories of visuospatial skills in autism. Yet, methodological differences between studies have led to inconsistent findings. To distinguish between accounts based on local bias or global deficit, we present a simple task that has previously revealed dissociable local/global impairments in neuropsychological patients. Autistic and typical children copied corner elements, arranged in a square configuration. Grouping cues were manipulated to test whether global properties affected the accuracy of reproduction. All children were similarly affected by these manipulations. There was no group difference in the reproduction of local elements, although global accuracy was negatively related to better local processing for autistic children. These data speak against influential theories of visuospatial differences in autism.
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14. Sturner R, Howard B, Bergmann P, Morrel T, Andon L, Marks D, Rao P, Landa R. {{Autism Screening With Online Decision Support by Primary Care Pediatricians Aided by M-CHAT/F}}. {Pediatrics}. 2016.
BACKGROUND AND OBJECTIVE: Autism spectrum disorders (ASDs) often go undetected in toddlers. The Modified Checklist for Autism in Toddlers (M-CHAT) With Follow-up Interview (M-CHAT/F) has been shown to improve detection and reduce over-referral. However, there is little evidence supporting the administration of the interview by a primary care pediatrician (PCP) during typical checkups. The goal of this study was to evaluate the feasibility, validity, and reliability of the M-CHAT/F by PCPs with online prompts at the time of a positive M-CHAT screen. DESIGN: Forty-seven PCPs from 22 clinics completed 197 M-CHAT/Fs triggered by positive M-CHAT screens via the same secure Web-based platform that parents used to complete M-CHATs before an 18- or 24-month well-child visit. A second M-CHAT/F was administered live or by telephone by trained research assistants (RAs) at the Kennedy Krieger Institute Center for Autism and Related Disorders. The Autism Diagnostic Observation Schedule, Second Edition, and the Mullen Scales of Early Learning were administered as criterion measures. Measures of agreement between PCPs and RAs were calculated, and measures of test performance compared. RESULTS: There was 86.6% agreement between PCPs and RAs, with a Cohen’s kappa of 0.72. Comparison of sensitivity, specificity, positive predictive value (PPV), and overall accuracy for M-CHAT/F between PCPs and RAs showed significant equivalence for all measures. Use of the M-CHAT/F by PCPs resulted in significant improvement in PPV compared with the M-CHAT alone. CONCLUSIONS: Minimally trained PCPs can administer the M-CHAT/F reliably and efficiently during regular well-child visits, increasing PPV without compromising detection.
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15. Wei H, Ma Y, Ding C, Jin G, Liu J, Chang Q, Hu F, Yu L. {{Reduced Glutamate Release in Adult BTBR Mouse Model of Autism Spectrum Disorder}}. {Neurochem Res}. 2016.
Autism spectrum disorder (ASD) is a developmental disorder characterized by impairments in social and communication abilities, as well as by restricted and repetitive behaviors. The BTBR T + Itpr3 tf (BTBR) mice have emerged as a well characterized and widely used mouse model of a range of ASD-like phenotype, showing deficiencies in social behaviors and unusual ultrasonic vocalizations as well as increased repetitive self-grooming. However, the inherited neurobiological changes that lead to ASD-like behaviors in these mice are incompletely known and still under active investigation. The aim of this study was to further evaluate the structure and neurotransmitter release of the glutamatergic synapse in BTBR mice. C57BL/6J (B6) mice were used as a control strain because of their high level of sociability. The important results showed that the evoked glutamate release in the cerebral cortex of BTBR mice was significantly lower than in B6 mice. And the level of vesicle docking-related protein Syntaxin-1A was reduced in BTBR mice. However, no significant changes were observed in the number of glutamatergic synapse, level of synaptic proteins, density of dendritic spine and postsynaptic density between BTBR mice and B6 mice. Overall, our results suggest that abnormal vesicular glutamate activity may underlie the ASD relevant pathology in the BTBR mice.
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16. Zhao F, Qiao L, Shi F, Yap PT, Shen D. {{Feature fusion via hierarchical supervised local CCA for diagnosis of autism spectrum disorder}}. {Brain Imaging Behav}. 2016.
Early diagnosis of autism spectrum disorder (ASD) is critical for timely medical intervention, for improving patient quality of life, and for reducing the financial burden borne by the society. A key issue in neuroimaging-based ASD diagnosis is the identification of discriminating features and then fusing them to produce accurate diagnosis. In this paper, we propose a novel framework for fusing complementary and discriminating features from different imaging modalities. Specifically, we integrate the Fisher discriminant criterion and local correlation information into the canonical correlation analysis (CCA) framework, giving a new feature fusion method, called Supervised Local CCA (SL-CCA), which caters specifically to local and global multimodal features. To alleviate the neighborhood selection problem associated with SL-CCA, we further propose a hierarchical SL-CCA (HSL-CCA), by performing SL-CCA with the gradually varying neighborhood sizes. Extensive experiments on the multimodal ABIDE database show that the proposed method achieves superior performance. In addition, based on feature weight analysis, we found that only a few specific brain regions play active roles in ASD diagnosis. These brain regions include the putamen, precuneus, and orbitofrontal cortex, which are highly associated with human emotional modulation and memory formation. These finding are consistent with the behavioral phenotype of ASD.
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17. Zorio DA, Jackson CM, Liu Y, Rubel EW, Wang Y. {{Cellular Distribution of the Fragile X Mental Retardation Protein in the Mouse Brain}}. {J Comp Neurol}. 2016.
The fragile X mental retardation protein (FMRP) plays an important role in normal brain development. Absence of FMRP results in abnormal neuronal morphologies in a selected manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fragile X syndrome (FXS). Despite FMRP importance for proper brain function, its overall expression pattern in the mammalian brain at the resolution of individual neuronal cell groups is not known. In this study, we used FMR1 knockout and isogenic wild type mice to systematically map the distribution of FMRP expression in the entire mouse brain. Using immunocytochemistry and cellular quantification analyses, we identified a large number of prominent cell groups expressing high levels of FMRP at the subcortical levels, in particular sensory and motor neurons in the brainstem and thalamus. In contrast, many cell groups in the midbrain and hypothalamus exhibit low FMRP levels. More importantly, we describe differential patterns of FMRP distribution in both cortical and subcortical brain regions. Almost all major brain areas contain high and low levels of FMRP cell groups adjacent to each other or between layers of the same cortical areas. These differential patterns indicate that FMRP expression appears to be specific to individual neuronal cell groups instead of being associated with all neurons in distinct brain regions as previously considered. Taken together, these findings support the notion of FMRP differential neuronal regulation and strongly implicate the contribution of fundamental sensory and motor processing at subcortical levels to FXS pathology. This article is protected by copyright. All rights reserved.
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18. Zuin M, Rigatelli G. {{Secundum atrial septal defects and methylenetetrahydrofolate reductase C677T polymorphism: A special category of ASDs?}}. {Int J Cardiol}. 2016; 223: 139-40.
