1. Anderson KA, Park JH, Monteleone RG, Dabelko-Schoeny HI. {{Heterogeneity Within Adult Day Services: A Focus on Centers that Serve Younger Adults With Intellectual and Developmental Disabilities}}. {Home Health Care Serv Q}. 2014.
Abstract As the population of younger adults with intellectual and developmental disabilities continues to grow, adult day services is positioned to be a key provider of community-based care and support. In this article, researchers examine how adult day centers that serve younger adults with intellectual and developmental disabilities differ from centers that serve older and mixed age groups. One-way ANOVA and post-hoc analyses of 490 ADS centers (N = 490) revealed significant differences in terms of participant, staffing, and organizational characteristics. These findings have important implications for service providers, researchers, and policy makers.
Lien vers le texte intégral (Open Access ou abonnement)
2. Brady NC, Anderson CJ, Hahn LJ, Obermeier SM, Kapa LL. {{Eye Tracking as a Measure of Receptive Vocabulary in Children with Autism Spectrum Disorders}}. {Augment Altern Commun}. 2014.
This study examined the utility of eye tracking research technology to measure speech comprehension in 14 young boys with autism spectrum disorders (ASD) and 15 developmentally matched boys with typical development. Using eye tracking research technology, children were tested on individualized sets of known and unknown words, identified based on their performance on the Peabody Picture Vocabulary Test. Children in both groups spent a significantly longer amount of time looking at the target picture when previous testing indicated the word was known (known condition). Children with ASD spent similar amounts of time looking at the target and non-target pictures when previous testing indicated the word was unknown (unknown condition). However, children with typical development looked longer at the target pictures in the unknown condition as well, potentially suggesting emergent vocabulary knowledge.
Lien vers le texte intégral (Open Access ou abonnement)
3. Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W. {{A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation}}. {Taiwan J Obstet Gynecol}. 2014; 53(1): 74-8.
OBJECTIVE: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). MATERIALS AND METHODS: A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. RESULTS: aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)x1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)x3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. CONCLUSION: An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication.
Lien vers le texte intégral (Open Access ou abonnement)
4. Crewther DP. {{Peripheral global neglect in high vs. low autistic tendency}}. {Front Psychol}. 2014; 5: 284.
In addition to its core social deficits, autism is characterized by altered visual perception, with a preference for local percept in those high in autistic tendency. Here, the balance of global vs. local percepts for the perceptually rivalrous diamond illusion was assessed between groups scoring high and low on the Autism Spectrum Quotient (AQ). The global percept of a diamond shape oscillating horizontally behind three occluders can as easily be interpreted as the local percept of four line elements, each moving vertically. Increasing the luminance contrast of the occluders with respect to background resulted in an increase of initial global percept in both groups, with no difference in sensitivity between groups. Presenting the target further into the periphery resulted in a marked increase in the percentage of global perception with visual field eccentricity. However, while the performance for centrally presented diamond targets was not different between AQ groups, the peripheral global performance of the High AQ group was significantly reduced compared with the Low AQ group. On the basis of other imaging studies, this peripheral but not foveal global perceptual neglect may indicate an abnormal interaction between striate cortex and the Lateral Occipital Complex (LOC), or to differences in the deployment of attention between the two groups.
Lien vers le texte intégral (Open Access ou abonnement)
5. De Felice C, Della Ragione F, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Scalabri F, Marracino F, Madonna M, Belmonte G, Ricceri L, De Filippis B, Laviola G, Valacchi G, Durand T, Galano JM, Oger C, Guy A, Bultel-Ponce V, Guy J, Filosa S, Hayek J, D’Esposito M. {{Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome}}. {Neurobiol Dis}. 2014.
Rett syndrome (RTT) is a rare neurodevelopmental disorder affecting almost exclusively females, considered as a genetic model of infantile autism, and caused in the overwhelming majority of the cases by loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). High circulating levels of oxidative stress (OS) markers in patients suggest the involvement of OS in the RTT pathogenesis. To investigate on the occurrence of oxidative brain damage in Mecp2 mutant mouse models, several OS markers were evaluated in whole brains of Mecp2-null (pre-symptomatic, symptomatic, and rescued) and Mecp2-308 mutated (pre-symptomatic and symptomatic) mice, and compared to those of wild type littermates. Selected OS markers included non-protein-bound iron, isoprostanes (F2-isoprostanes, F4-neuroprostanes, F2-dihomo-isoprostanes) and 4-hydroxy-2-nonenal protein adducts. Our findings indicate that oxidative brain damage 1) occurs in both Mecp2-null (both -/y and stop/y) and Mecp2-308 (both 308/y males and 308/+ females) mouse models of RTT; 2) precedes the onset of symptoms in both Mecp2-null and Mecp2-308 models; and 3) is rescued by Mecp2 brain specific gene reactivation. Our data provide direct evidence of the link between Mecp2 deficiency, oxidative stress and RTT pathology, as demonstrated by the rescue of the brain oxidative homeostasis following brain-specifically Mecp2-reactivated mice. The present study indicates that oxidative brain damage is a previously unrecognized hallmark feature of murine RTT, and suggests that Mecp2 is involved in the protection of the brain from oxidative stress.
Lien vers le texte intégral (Open Access ou abonnement)
6. Enloe KA, Rapp JT. {{Effects of Noncontingent Social Interaction on Immediate and Subsequent Engagement in Vocal and Motor Stereotypy in Children With Autism}}. {Behav Modif}. 2014.
This study evaluated the effects of noncontingent social interaction (SI) on immediate and subsequent engagement in vocal and motor stereotypy in three children with autism. During SI, a therapist delivered continuous interaction in the form of reading aloud from a Kindle e-reader. Results showed that when compared with a no-interaction baseline sequence, SI decreased immediate engagement vocal stereotypy for all three participants without increasing subsequent engagement for any participant. Furthermore, SI also increased immediate engagement in motor stereotypy for one participant, decreased immediate engagement in motor stereotypy for two participants, but did not increase subsequent engagement in motor stereotypy for any participant. Some clinical implications and limitations of the findings are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
7. Goddard L, Dritschel B, Howlin P. {{A Preliminary Study of Gender Differences in Autobiographical Memory in Children with an Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014.
Autobiographical memory was assessed in 24 children (12 male, 12 female, aged between 8 and 16 years) with autism spectrum disorder (ASD) and a comparison group of 24 typically developing (TD) children matched for age, IQ, gender and receptive language. Results suggested that a deficit in specific memory retrieval in the ASD group was more characteristic of male participants. Females in both the TD and ASD groups generated more detailed and emotional memories than males. They also demonstrated superior verbal fluency scores; verbal fluency and autobiographical memory cueing task performance were significantly positively correlated in females. Results are discussed in light of recent research suggesting gender differences in the phenotype of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Gordon I, Pierce MD, Bartlett MS, Tanaka JW. {{Training Facial Expression Production in Children on the Autism Spectrum}}. {J Autism Dev Disord}. 2014.
Children with autism spectrum disorder (ASD) show deficits in their ability to produce facial expressions. In this study, a group of children with ASD and IQ-matched, typically developing (TD) children were trained to produce « happy » and « angry » expressions with the FaceMaze computer game. FaceMaze uses an automated computer recognition system that analyzes the child’s facial expression in real time. Before and after playing the Angry and Happy versions of FaceMaze, children posed « happy » and « angry » expressions. Naive raters judged the post-FaceMaze « happy » and « angry » expressions of the ASD group as higher in quality than their pre-FaceMaze productions. Moreover, the post-game expressions of the ASD group were rated as equal in quality as the expressions of the TD group.
Lien vers le texte intégral (Open Access ou abonnement)
9. Larson T, Kerekes N, Selinus EN, Lichtenstein P, Gumpert CH, Anckarsater H, Nilsson T, Lundstrom S. {{Reliability of Autism-Tics, AD/HD, and other Comorbidities (A-TAC) inventory in a test-retest design}}. {Psychol Rep}. 2014; 114(1): 93-103.
The Autism-Tics, AD/HD, and other Comorbidities (A-TAC) inventory is used in epidemiological research to assess neurodevelopmental problems and coexisting conditions. Although the A-TAC has been applied in various populations, data on retest reliability are limited. The objective of the present study was to present additional reliability data. The A-TAC was administered by lay assessors and was completed on two occasions by parents of 400 individual twins, with an average interval of 70 days between test sessions. Intra- and inter-rater reliability were analysed with intraclass correlations and Cohen’s kappa. A-TAC showed excellent test-retest intraclass correlations for both autism spectrum disorder and attention deficit hyperactivity disorder (each at .84). Most modules in the A-TAC had intra- and inter-rater reliability intraclass correlation coefficients of > or = .60. Cohen’s kappa indi- cated acceptable reliability. The current study provides statistical evidence that the A-TAC yields good test-retest reliability in a population-based cohort of children.
10. Mavranezouli I, Megnin-Viggars O, Cheema N, Howlin P, Baron-Cohen S, Pilling S. {{The cost-effectiveness of supported employment for adults with autism in the United Kingdom}}. {Autism}. 2014.
Adults with autism face high rates of unemployment. Supported employment enables individuals with autism to secure and maintain a paid job in a regular work environment. The objective of this study was to assess the cost-effectiveness of supported employment compared with standard care (day services) for adults with autism in the United Kingdom. Thus, a decision-analytic economic model was developed, which used outcome data from the only trial that has evaluated supported employment for adults with autism in the United Kingdom. The main analysis considered intervention costs, while cost-savings associated with changes in accommodation status and National Health Service and personal social service resource use were examined in secondary analyses. Two outcome measures were used: the number of weeks in employment and the quality-adjusted life year. Supported employment resulted in better outcomes compared with standard care, at an extra cost of pound18 per additional week in employment or pound5600 per quality-adjusted life year. In secondary analyses that incorporated potential cost-savings, supported employment dominated standard care (i.e. it produced better outcomes at a lower total cost). The analysis suggests that supported employment schemes for adults with autism in the United Kingdom are cost-effective compared with standard care. Further research needs to confirm these findings.
Lien vers le texte intégral (Open Access ou abonnement)
11. McCarthy SE, Gillis J, Kramer M, Lihm J, Yoon S, Berstein Y, Mistry M, Pavlidis P, Solomon R, Ghiban E, Antoniou E, Kelleher E, O’Brien C, Donohoe G, Gill M, Morris DW, McCombie WR, Corvin A. {{De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability}}. {Mol Psychiatry}. 2014.
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and autism have reinforced the hypothesis that rare genetic variation contributes to risk. We carried out exome sequencing on 57 trios with sporadic or familial schizophrenia. In sporadic trios, we observed a ~3.5-fold increase in the proportion of nonsense DNMs (0.101 vs 0.031, empirical P=0.01, Benjamini-Hochberg-corrected P=0.044). These mutations were significantly more likely to occur in genes with highly ranked probabilities of haploinsufficiency (P=0.0029, corrected P=0.006). DNMs of potential functional consequence were also found to occur in genes predicted to be less tolerant to rare variation (P=2.01 x 10-5, corrected P=2.1 x 10-3). Genes with DNMs overlapped with genes implicated in autism (for example, AUTS2, CHD8 and MECP2) and intellectual disability (for example, HUWE1 and TRAPPC9), supporting a shared genetic etiology between these disorders. Functionally CHD8, MECP2 and HUWE1 converge on epigenetic regulation of transcription suggesting that this may be an important risk mechanism. Our results were consistent in an analysis of additional exome-based sequencing studies of other neurodevelopmental disorders. These findings suggest that perturbations in genes, which function in the epigenetic regulation of brain development and cognition, could have a central role in the susceptibility to, pathogenesis and treatment of mental disorders.Molecular Psychiatry advance online publication, 29 April 2014; doi:10.1038/mp.2014.29.
Lien vers le texte intégral (Open Access ou abonnement)
12. Misic B, Doesburg SM, Fatima Z, Vidal J, Vakorin VA, Taylor MJ, McIntosh AR. {{Coordinated Information Generation and Mental Flexibility: Large-Scale Network Disruption in Children with Autism}}. {Cereb Cortex}. 2014.
Autism spectrum disorder (ASD) includes deficits in social cognition, communication, and executive function. Recent neuroimaging studies suggest that ASD disrupts the structural and functional organization of brain networks and, presumably, how they generate information. Here, we relate deficits in an aspect of cognitive control to network-level disturbances in information processing. We recorded magnetoencephalography while children with ASD and typically developing controls performed a set-shifting task designed to test mental flexibility. We used multiscale entropy (MSE) to estimate the rate at which information was generated in a set of sources distributed across the brain. Multivariate partial least-squares analysis revealed 2 distributed networks, operating at fast and slow time scales, that respond completely differently to set shifting in ASD compared with control children, indicating disrupted temporal organization within these networks. Moreover, when typically developing children engaged these networks, they achieved faster reaction times. When children with ASD engaged these networks, there was no improvement in performance, suggesting that the networks were ineffective in children with ASD. Our data demonstrate that the coordination and temporal organization of large-scale neural assemblies during the performance of cognitive control tasks is disrupted in children with ASD, contributing to executive function deficits in this group.
Lien vers le texte intégral (Open Access ou abonnement)
13. Paul LK, Corsello C, Kennedy DP, Adolphs R. {{Agenesis of the corpus callosum and autism: a comprehensive comparison}}. {Brain}. 2014.
The corpus callosum, with its approximately 200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit localized deficits in non-literal language comprehension, humour, theory of mind and social reasoning. These findings together with parent reports suggest that behavioural and cognitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum disorders, particularly with respect to impairments in social interaction and communication. To provide a comprehensive test of this hypothesis, we directly compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of autism spectrum disorder but no neurological abnormality. All participants had full-scale intelligence quotient scores >78 and groups were matched on age, handedness, and gender ratio. Using the Autism Diagnostic Observation Schedule together with current clinical presentation to assess autistic symptomatology, we found that 8/26 (about a third) of agenesis subjects presented with autism. However, more formal diagnosis additionally involving recollective parent-report measures regarding childhood behaviour showed that only 3/22 met complete formal criteria for an autism spectrum disorder (parent reports were unavailable for four subjects). We found no relationship between intelligence quotient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual corpus callosum differentiated those who exhibited current autism spectrum symptoms from those who did not. Relative to the autism spectrum comparison group, parent ratings of childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria for autism, even for those who met autism spectrum criteria as adults, and even though there was no group difference in parent report of current behaviours. The findings suggest two broad conclusions. First, they support the hypothesis that congenital disruption of the corpus callosum constitutes a major risk factor for developing autism. Second, they quantify specific features that distinguish autistic behaviour associated with callosal agenesis from autism more generally. Taken together, these two findings also leverage specific questions for future investigation: what are the distal causes (genetic and environmental) determining both callosal agenesis and its autistic features, and what are the proximal mechanisms by which absence of the callosum might generate autistic symptomatology?
Lien vers le texte intégral (Open Access ou abonnement)
14. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jimenez Gonzalez P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. {{Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders}}. {Am J Hum Genet}. 2014.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 x 10-5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 x 10-15, approximately 3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Lien vers le texte intégral (Open Access ou abonnement)
15. Sakamoto A, Moriuchi H, Matsuzaki J, Motoyama K, Moriuchi M. {{Retrospective diagnosis of congenital cytomegalovirus infection in children with autism spectrum disorder but no other major neurologic deficit}}. {Brain Dev}. 2014.
Aim: Congenital cytomegalovirus (CMV) infection can cause a variety of neurological deficits of delayed onset in infants who are asymptomatic at birth. The aim of this study was to investigate the prevalence of congenital CMV infection among children with autism spectrum disorder (ASD) in Nagasaki, Japan. Methods: Twenty-nine children with ASD who were born in Nagasaki and had no other major neurological deficits were recruited. Two of the patients were excluded due to significant perinatal events. The remaining 27 children were investigated retrospectively for congenital CMV infection by analyzing dried blood spot samples or dried umbilical cords for CMV DNA using real-time PCR. Results: CMV DNA was detected in two (7.4%) of the 27 children. Neither of the patients had perinatal histories suggestive of congenital CMV disease or other neurological deficits, including hearing impairment and epilepsy. The severity of their autistic disorders varied considerably. Conclusions: The rate of congenital CMV infection in this study (two of 27 children with ASD), which was significantly (p=0.004) higher than the incidence of congenital CMV infection in Nagasaki (0.31%, 10/3230 live births), suggests the involvement of congenital CMV infection in a portion of children with ASD, although definite diagnosis was not obtained due to limited clinical data of the study subjects.
Lien vers le texte intégral (Open Access ou abonnement)
16. Sampino S, Juszczak GR, Zacchini F, Swiergiel AH, Modlinski JA, Loi P, Ptak GE. {{Grand-paternal age and the development of autism-like symptoms in mice progeny}}. {Transl Psychiatry}. 2014; 4: e386.
Advanced paternal age (APA) contributes to the risk of autism spectrum disorders (ASDs) in children. In this study, we used a mouse model to investigate the effects of APA on behavioral features related to autistic syndromes (that is, social deficits, communication impairments and stereotypic/repetitive behaviors). We also examined whether such effects are transmitted across generations. To do this, males aged 15 months (APA) and 4 months (control) were bred with 4-month-old females, and the resulting offspring (F1) and their progeny (F2; conceived by 4-month-old parents) were tested for the presence and severity of ASD-like behaviors. Our results indicate that APA resulted in offspring that displayed distinctive symptoms of ASD. We found that both F1 conceived from old fathers and F2 derived from old grandfathers displayed increased ultrasound vocalization (USV) activity, decreased sociability, increased grooming activity and increased anxiety-like responses. Moreover, such abnormalities were partially transmitted to the second generation of mice, having APA grandfathers. In conclusion, our study suggests that the risk of ASD could develop over generations, consistent with heritable mutations and/or epigenetic alterations associated with APA.
Lien vers le texte intégral (Open Access ou abonnement)
17. Siniscalco D, Bradstreet JJ, Sych N, Antonucci N. {{Mesenchymal stem cells in treating autism: Novel insights}}. {World J Stem Cells}. 2014; 6(2): 173-8.
Autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, abnormal to absent verbal communication, restricted interests, and repetitive stereotypic verbal and non-verbal behaviors, influencing the ability to relate to and communicate. The core symptoms of ASDs concern the cognitive, emotional, and neurobehavioural domains. The prevalence of autism appears to be increasing at an alarming rate, yet there is a lack of effective and definitive pharmacological options. This has created an increased sense of urgency, and the need to identify novel therapies. Given the growing awareness of immune dysregulation in a significant portion of the autistic population, cell therapies have been proposed and applied to ASDs. In particular, mesenchymal stem cells (MSCs) possess the immunological properties which make them promising candidates in regenerative medicine. MSC therapy may be applicable to several diseases associated with inflammation and tissue damage, where subsequent regeneration and repair is necessary. MSCs could exert a positive effect in ASDs through the following mechanisms: stimulation of repair in the damaged tissue, e.g., inflammatory bowel disease; synthesizing and releasing anti-inflammatory cytokines and survival-promoting growth factors; integrating into existing neural and synaptic network, and restoring plasticity. The paracrine mechanisms of MSCs show interesting potential in ASD treatment. Promising and impressive results have been reported from the few clinical studies published to date, although the exact mechanisms of action of MSCs in ASDs to restore functions are still largely unknown. The potential role of MSCs in mediating ASD recovery is discussed in light of the newest findings from recent clinical studies.
Lien vers le texte intégral (Open Access ou abonnement)
18. Sun X, Allison C, Auyeung B, Matthews FE, Zhang Z, Baron-Cohen S, Brayne C. {{Comparison between a Mandarin Chinese version of the Childhood Autism Spectrum Test and the Clancy Autism Behaviour Scale in mainland China}}. {Res Dev Disabil}. 2014; 35(7): 1599-608.
A Mandarin Chinese version of the Childhood Autism Spectrum Test (CAST) and Clancy Autism Behaviour Scale (CABS) were applied to 150 children aged 4-11 years old from clinical settings and mainstream schools in Beijing. All the children were further assessed using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). The validity of two instruments on screening of ASC was examined and compared using receiver operating characteristic (ROC) curve analysis. The validity of CAST (sensitivity: 89%, specificity: 80%, PPV: 70%) was better than the CABS (sensitivity: 58%, specificity: 84%, PPV: 65%). The area under the curve (AUC) of the CAST (AUC=0.90) was significantly higher than the CABS (AUC=0.79, p=0.0002). The Mandarin CAST demonstrated a better validity in distinguishing children with ASC from children without ASC. It is an acceptable candidate as a screening instrument for ASC in large epidemiological study in Chinese population.
Lien vers le texte intégral (Open Access ou abonnement)
19. Wilkinson KM, Light J. {{Preliminary Study of Gaze Toward Humans in Photographs by Individuals with Autism, Down Syndrome, or Other Intellectual Disabilities: Implications for Design of Visual Scene Displays}}. {Augment Altern Commun}. 2014.
Visual scene displays (VSDs) are a form of augmentative and alternative communication display in which language concepts are embedded into an image of a naturalistic event. VSDs are based on the theory that language learning occurs through interactions with other people, and recommendations for VSD design have emphasized using images of these events that include humans. However, many VSDs also include other items that could potentially be distracting. We examined gaze fixation in 18 school-aged participants with and without severe intellectual/developmental disabilities (i.e., individuals with typical development, autism, Down syndrome and other intellectual disabilities) while they viewed photographs with human figures of various sizes and locations in the image, appearing alongside other interesting, and potentially distracting items. In all groups, the human figures attracted attention rapidly (within 1.5 seconds). The proportions of each participant’s own fixation time spent on the human figures were similar across all groups, as were the proportions of total fixations made to the human figures. Although the findings are preliminary, this initial evidence supports the inclusion of humans in VSD images.
Lien vers le texte intégral (Open Access ou abonnement)
20. Zuckerman KE, Sinche B, Mejia A, Cobian M, Becker T, Nicolaidis C. {{Latino parents’ perspectives on barriers to autism diagnosis}}. {Acad Pediatr}. 2014; 14(3): 301-8.
OBJECTIVE: Latino children are diagnosed with autism spectrum disorders (ASDs) at older ages and at the point of more severe symptoms. We sought to qualitatively describe community, family, and health care system barriers to ASD diagnosis in Latino children. METHODS: Five focus groups and 4 qualitative interviews were conducted with 33 parents of Latino children previously diagnosed with an ASD. Participants described Latino community perceptions of autism and barriers they experienced during the diagnostic process. Sessions were audiorecorded and transcribed. Transcripts were coded by 2 researchers, and data were analyzed using thematic analysis. RESULTS: Parents reported low levels of ASD information and high levels of mental health and disability stigma in the Latino community. Parents had poor access to care as a result of poverty, limited English proficiency, and lack of empowerment to take advantage of services. Providers sometimes dismissed parents’ concerns. The ASD diagnostic process itself was slow, inconvenient, confusing, and uncomfortable for the child. These factors led many parents to normalize their child’s early behaviors, deny that a problem existed, and lose trust in the medical system. CONCLUSIONS: Additional educational outreach to Latino families, destigmatization of ASD, streamlining the ASD diagnostic process, and providing additional support to Latino parents of at-risk children may decrease delays in ASD diagnosis among Latino children.
