1. Balogh R, Lin E, Dobranowski K, Selick A, Wilton AS, Lunsky Y. {{All-Cause, 30-Day Readmissions Among Persons With Intellectual and Developmental Disabilities and Mental Illness}}. {Psychiatr Serv}. 2017: appips201600534.
OBJECTIVE: Early hospital readmissions within 30 days of discharge are common and costly. This research describes predictors of all-cause, 30-day hospital readmissions among persons with intellectual and developmental disabilities (IDD), a group known to experience high rates of hospitalization. METHODS: A cohort of 66,484 adults with IDD from Ontario, Canada, was used to create two subgroups: individuals with IDD only and those with IDD and mental illness. The rates of hospital readmission were determined and contrasted with a comparison subgroup of people without IDD who have mental illness. RESULTS: Compared with those with mental illness only, individuals with IDD and mental illness were 1.7 times more likely to experience a hospital readmission within 30 days. Predictors of their readmission rates included being a young adult and having high morbidity levels. CONCLUSIONS: The high rate of hospital readmission suggests that individuals with IDD and mental illness need attention regarding discharge planning and outpatient follow-up.
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2. Chetcuti L, Hudry K, Grant M, Vivanti G. {{Object-directed imitation in autism spectrum disorder is differentially influenced by motoric task complexity, but not social contextual cues}}. {Autism}. 2017: 1362361317734063.
We examined the role of social motivation and motor execution factors in object-directed imitation difficulties in autism spectrum disorder. A series of to-be-imitated actions was presented to 35 children with autism spectrum disorder and 20 typically developing children on an Apple((R)) iPad((R)) by a socially responsive or aloof model, under conditions of low and high motor demand. There were no differences in imitation performance (i.e. the number of actions reproduced within a fixed sequence), for either group, in response to a model who acted socially responsive or aloof. Children with autism spectrum disorder imitated the high motor demand task more poorly than the low motor demand task, while imitation performance for typically developing children was equivalent across the low and high motor demand conditions. Furthermore, imitative performance in the autism spectrum disorder group was unrelated to social reciprocity, though positively associated with fine motor coordination. These results suggest that difficulties in object-directed imitation in autism spectrum disorder are the result of motor execution difficulties, not reduced social motivation.
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3. Chiocchetti AG, Yousaf A, Bour HS, Haslinger D, Waltes R, Duketis E, Jarczok T, Sachse M, Biscaldi M, Degenhardt F, Herms S, Cichon S, Ackermann J, Koch I, Klauck SM, Freitag CM. {{Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities}}. {J Neural Transm (Vienna)}. 2017.
The genetic architecture underlying Autism spectrum disorder (ASD) has been suggested to differ between individuals with lower (IQ 70; HIQ). Among the identified pathomechanisms, the glutamatergic signalling pathway is of specific interest in ASD. We investigated 187 common functional variants of this neurotransmitter system for association with ASD and with symptom severity in two independent samples, a German (German-ALL: N = 583 families) and the Autism Genome Project cohort (AGP-ALL: N = 2001 families), split into HIQ, and LIQ subgroups. We did not identify any association withstanding correction for multiple testing. However, we report a replicated nominal significant under-transmission (OR < 0.79, p < 0.04) of the AKAP13 rs745191-T allele in both LIQ cohorts, but not in the much larger HIQ cohorts. At the phenotypic level, we nominally replicated associations of CAMK2A-rs2241694 with non-verbal communication in both combined LIQ and HIQ ASD cohorts. Variants PLD1-rs2124147 and ADCY1-rs2461127 were nominally associated with impaired non-verbal abilities and AKAP2-rs3739456 with repetitive behaviour in both LIQ cohorts. All four LIQ-associated genes are involved in G-protein coupled signal transduction, a downstream pathway of metabotropic glutamate receptor activation. We conclude that functional common variants of glutamatergic genes do not have a strong impact on ASD, but seem to moderately affect ASD risk and phenotypic expression. Since most of our nominally replicated hits were identified in the LIQ cohort, further investigation of the glutamatergic system in this subpopulation might be warranted. Lien vers le texte intégral (Open Access ou abonnement)
4. Hatfield TR, Brown RF, Giummarra MJ, Lenggenhager B. {{Autism spectrum disorder and interoception: Abnormalities in global integration?}}. {Autism}. 2017: 1362361317738392.
Research over the past three decades has seen a revived interest in the way the human body-and the way in which it is perceived-interacts with aspects of our experience. Consequently, interoception (i.e. the perception of physiological feedback from the body) has recently been shown to be associated with a wide range of cognitive, emotional, and affective functions, making it broadly relevant to the study of autism spectrum disorder. Although limited qualitative accounts and empirical studies suggest that individuals with autism spectrum disorder encounter abnormalities when perceiving and integrating physiological feedback from their bodies, other studies have suggested that people with/without autism spectrum disorder do not differ in interoceptive ability after accounting for alexithymia. In this article, we discuss the newly recognized importance of interoception in autism spectrum disorder with a focus on how deficits in the perception of bodily feedback might relate to the core features and co-occuring psychopathology of autism spectrum disorder. Finally, a new integrated theory is advanced which posits that people with autism spectrum disorder may experience a reduced capacity to integrate interoceptive information that may result in a narrow attentional bodily focus and reduced motivational and behavioral drives.
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5. Lemay JF, Eastabrook G, MacKenzie H. {{The Little Prince: a glimpse into the world of autism?}}. {Arch Dis Child}. 2017.
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6. Milano M. {{Oral Healthcare for Persons With Intellectual or Developmental Disabilities: Why Is There a Disparity?}}. {Compend Contin Educ Dent}. 2017; 38(10): e5-e8.
Despite some progress, a significant disparity still exists in oral healthcare between individuals with intellectual or developmental disabilities and the general population. Barriers generated by finances, a lack of appropriately trained dental providers, and the patients themselves combine to create significant challenges to providing dental care. However, strategies exist that can help to decrease the magnitude of these hurdles so this disparity can be minimized.
7. Murakami Y, Sakai S, Takeda K, Sawamura D, Yoshida K, Hirose T, Ikeda C, Mani H, Yamamoto T, Ito A. {{Autistic traits modulate the activity of the ventromedial prefrontal cortex in response to female faces}}. {Neurosci Res}. 2017.
Previous findings have revealed abnormal visual attention or processing of faces among individuals with autism spectrum condition (ASC). However, little attention has been paid to the relationship between autistic traits and neural mechanisms associated with representing facial values. Using fMRI, we investigated the patterns of brain activity in the vmPFC and VS in response to faces of elderly males, elderly females, young males, and young females. During fMRI, subjects with a relatively high autism quotient (high group) and those with a relatively low autism quotient (low group) were presented with a face and asked to rate its pleasantness. After fMRI, the subjects were presented with pairs of faces and asked to select the face that they preferred. Our results indicate a dissociable modulatory effect of autistic traits on the vmPFC and VS: The vmPFC activity in the low group was more sensitive to age differences in female faces compared to that in the high group, whereas VS activity did not show differences between groups. These results suggest that, in the BVS, autistic traits selectively modulate the vmPFC activity associated with facial value representation.
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8. Parrend P, Mazzucotelli T, Colin F, Collet P, Mandel JL. {{Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project – Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders}}. {J Med Syst}. 2017; 42(1): 1.
Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations. Cerberus enables switching from a dual world, where CSP data can be accessed either from the users who entered it or fully de-identified, to an access-when-required world, where patients, practitioners and researchers can access focused medical data through explicit authorisation by the data owner. Efficient access control requires application-specific access rights, as well as the ability to restrict these rights when they are not used. Cerberus is implemented and evaluated in the context of the GENIDA project, an international CSP for Genetically determined Intellectual Disabilities and Autism Spectrum Disorders. As a result of this study, the software is made available for the community, and validated specifications for CSPs are given.
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9. Shalev H, Solt I, Chodick G. {{Month of birth and risk of autism spectrum disorder: a retrospective cohort of male children born in Israel}}. {BMJ Open}. 2017; 7(11): e014606.
BACKGROUND: Increased incidence and prevalence of autism spectrum disorder (ASD) over the last two decades have prompted considerable efforts to investigate its aetiological factors. We examined an association between month of birth and ASD incidence. METHODS: In a retrospective cohort of male children born from January 1999 to December 2008 in a large health organisation in Israel (Maccabi Healthcare Services), ASD was followed from birth through December 2015. RESULTS: Of 108 548 boys, 975 cases of ASD were identified. The highest rates (10.3 and 10.2 per 1000 male live births) were recorded for children born in May and August, respectively, and the lowest rates for February (7.6 per 1000 male live births). Among lower socioeconomic status households, boys born in August were more likely (OR=1.71; 95% CI 1.06 to 2.74) of being diagnosed with ASD than children born in January. Significantly higher rates were not observed for other months. CONCLUSIONS: In line with several previous studies, we found a modestly higher likelihood of autism occurrence among male children of lower socioeconomic levels born in August.
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10. Sokhadze EM, Lamina EV, Casanova EL, Kelly DP, Opris I, Khachidze I, Casanova MF. {{Atypical Processing of Novel Distracters in a Visual Oddball Task in Autism Spectrum Disorder}}. {Behav Sci (Basel)}. 2017; 7(4).
Several studies have shown that children with autism spectrum disorder (ASD) show abnormalities in P3b to targets in standard oddball tasks. The present study employed a three-stimulus visual oddball task with novel distracters that analyzed event-related potentials (ERP) to both target and non-target items at frontal and parietal sites. The task tested the hypothesis that children with autism are abnormally orienting attention to distracters probably due to impaired habituation to novelty. We predicted a lower selectivity in early ERPs to target, frequent non-target, and rare distracters. We also expected delayed late ERPs in autism. The study enrolled 32 ASD and 24 typically developing (TD) children. Reaction time (RT) and accuracy were analyzed as behavioral measures, while ERPs were recorded with a dense-array EEG system. Children with ASD showed higher error rate without normative post-error RT slowing and had lower error-related negativity. Parietal P1, frontal N1, as well as P3a and P3b components were higher to novels in ASD. Augmented exogenous ERPs suggest low selectivity in pre-processing of stimuli resulting in their excessive processing at later stages. The results suggest an impaired habituation to unattended stimuli that incurs a high load at the later stages of perceptual and cognitive processing and response selection when novel distracter stimuli are differentiated from targets.
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11. Ward J, Brown P, Sherwood J, Simner J. {{An autistic-like profile of attention and perception in synaesthesia}}. {Cortex}. 2017.
Synaesthesia and autism are two neurodevelopmental conditions that have been shown to co-occur more than expected by chance. The studies reported here test the hypothesis that increased sensory sensitivity and enhanced Attention-to-detail are core cognitive features that are shared between them. In Study 1, we administer self-report measures of sensory sensitivity and autistic traits (the Autism Spectrum Quotient, AQ) to a large heterogeneous sample of synaesthetes. Both sensory sensitivity and the Attention-to-detail subscale of the AQ show a « dose-like » relationship with synaesthesia: namely, more kinds of synaesthesia is related to a greater shift up the autistic spectrum. Study 2 uses two objective measures of visual perception/attention linked to autistic traits: Change Blindness and detection of local embedded figures. Both measures are shown here to be sensitive to the Attention-to-detail subscale of the AQ, and synaesthetes outperformed controls on both tasks. Synaesthetes appear to occupy a specific cognitive niche of having autistic-like traits linked to enhanced perception and attention. Whilst these typically occur in the absence of the traditional impairments that define autism, they may carry the cost of increased vulnerability to clinical levels of autism (Odds Ratio = 2.07).
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12. Williams EI, Gleeson K, Jones BE. {{How pupils on the autism spectrum make sense of themselves in the context of their experiences in a mainstream school setting: A qualitative metasynthesis}}. {Autism}. 2017: 1362361317723836.
Evidence that interpersonal interactions and self-appraisal in social context are crucial in developing self-understanding raises concerns about how pupils with autism spectrum disorder make sense of themselves in school settings where many experience social marginalisation. Metasynthesis was used to systematically extract and integrate findings from qualitative studies examining the mainstream school experiences of these students. Synthesised findings identified three, intermeshing, aspects of experience which contribute to many pupils with autism spectrum disorder making sense of themselves as ‘different’ to typical peers in a negative way: difficulties linked to autism spectrum disorder; interpersonal relationships, particularly with peers; and accessibility of the school environment. Typical pupils’ attitudes and responses towards peers with autism spectrum disorder, unusual sensory reactions to the physical school environment and individual sense-making about the self are highlighted as key areas requiring further research and intervention to improve the experiences, self-esteem and well-being of pupils with autism spectrum disorder in inclusive settings and to inform educational policy and practice.
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13. Xie J, Huang L, Li X, Li H, Zhou Y, Zhu H, Pan T, Kendrick KM, Xu W. {{Immunological cytokine profiling identifies TNF-alpha as a key molecule dysregulated in autistic children}}. {Oncotarget}. 2017; 8(47): 82390-8.
Recent studies have suggested that the etiology of autism spectrum disorder (ASD) may be caused by immunological factors, particularly abnormalities in the innate immune system. However, it is still unclear which specific cytokines may be of most importance. The current study therefore investigated which cytokines showed altered concentrations in blood in ASD compared with healthy control children and which were also correlated with symptom severity. Our study sample included 32 children diagnosed with ASD and 28 age and sex-matched typically developing children. Autism symptoms were measured using the Autistic Behavior Checklist (ABC) and blood samples were taken from all subjects. We used Milliplex cytokine kits to determine serum concentrations of 11 Th1, Th2 and Th17 related cytokines. Additionally, expression of THRIL (TNFalpha and hnRNPL related immunoregulatory LincRNA), a long non-coding RNA involved in the regulation of tumor necrosis factor- alpha (TNF-alpha), was determined using real-time PCR. Of the 11 cytokines measured only concentrations of TNF-alpha (p=0.002), IL-1beta (p=0.02) and IL-17a (p=0.049) were significantly increased in ASD children compared to typically developing controls, but only TNF-alpha concentrations were positively correlated with severity of ASD symptoms on all 5 different ABC sub-scales and were predictive of an ASD phenotype (area under the curve = 0.74). Furthermore, THRIL RNA expression was significantly decreased in ASD children. Our results provide further support for altered innate immunity being an important autism pathogenic factor, with autistic children showing increased blood TNF-alpha concentrations associated with symptom severity, and decreased expression of the THRIL gene involved in regulating TNF-alpha.
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14. Zalfa F, Panasiti V, Carotti S, Zingariello M, Perrone G, Sancillo L, Pacini L, Luciani F, Roberti V, D’Amico S, Coppola R, Abate SO, Rana RA, De Luca A, Fiers M, Melocchi V, Bianchi F, Farace MG, Achsel T, Marine JC, Morini S, Bagni C. {{The fragile X mental retardation protein regulates tumor invasiveness-related pathways in melanoma cells}}. {Cell Death Dis}. 2017; 8(11): e3169.
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival. Reduction of FMRP in metastatic melanoma cell lines impinges on cell migration, invasion and adhesion. Next-generation sequencing in human melanoma cells revealed that FMRP regulates a large number of mRNAs involved in relevant processes of melanoma progression. Our findings suggest an association between FMRP levels and the invasive phenotype in melanoma and might open new avenues towards the discovery of novel therapeutic targets.
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15. Zhang S, Deng L, Jia Q, Huang S, Gu J, Zhou F, Gao M, Sun X, Feng C, Fan G. {{dbMDEGA: a database for meta-analysis of differentially expressed genes in autism spectrum disorder}}. {BMC Bioinformatics}. 2017; 18(1): 494.
BACKGROUND: Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. METHODS: Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples). Then, we applied R language software and developed an interactive shared and updated database (dbMDEGA) displaying the results of meta-analysis of data from ASD studies regarding differentially expressed genes (DEGs) in the brain. RESULTS: This database, dbMDEGA ( https://dbmdega.shinyapps.io/dbMDEGA/ ), is a publicly available web-portal for manual annotation and visualization of DEGs in the brain from data from ASD studies. This database uniquely presents meta-analysis values and homologous forest plots of DEGs in brain tissues. Gene entries are annotated with meta-values, statistical values and forest plots of DEGs in brain samples. This database aims to provide searchable meta-analysis results based on the current reported brain gene expression datasets of ASD to help detect candidate genes underlying this disorder. CONCLUSION: This new analytical tool may provide valuable assistance in the discovery of DEGs and the elucidation of the molecular pathogenicity of ASD. This database model may be replicated to study other disorders.
