1. Abdoli A, Dalimi A. {{Are There any Relationships between Latent Toxoplasma gondii Infection, Testosterone Elevation, and Risk of Autism Spectrum Disorder?}}. {Front Behav Neurosci};2014;8:339.
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2. Borders CM, Bock SJ, Szymanski C. {{Teacher Ratings of Evidence-Based Practices From the Field of Autism}}. {J Deaf Stud Deaf Educ};2014 (Oct 14)
Students who have a hearing loss and a comorbid diagnosis of an autism spectrum disorder (ASD) have multiple obstacles to overcome. Using Gallaudet Research Institute data, Szymanski, Brice, Lam, and Hotto calculated 1 deaf student in 59 received services for both a hearing loss and an ASD (Szymanski, C. A., Brice, P. J., Lam, K. H., & Hotto, S. A. (2012). Deaf children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42, 2027-2037. doi:10.1007/s10803-012-1452-9). Teachers of the deaf (TOD) in a Midwestern state completed a survey (N = 68) to indicate familiarity with evidence-based practices (EBP) from the field of ASD in order to confirm or reject the hypothesis that they would not report familiarity with these practices. Further analyses explored use and perceived effectiveness of EBP for those TOD who had familiarity with the instructional practices. Results of the study indicated that there was wide variance in TOD familiarity, use, and perceived effectiveness of the EBP.
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3. Bowton E, Saunders C, Reddy IA, Campbell NG, Hamilton PJ, Henry LK, Coon H, Sakrikar D, Veenstra-VanderWeele JM, Blakely RD, Sutcliffe J, Matthies HJ, Erreger K, Galli A. {{SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking}}. {Transl Psychiatry};2014;4:e464.
Emerging evidence associates dysfunction in the dopamine (DA) transporter (DAT) with the pathophysiology of autism spectrum disorder (ASD). The human DAT (hDAT; SLC6A3) rare variant with an Ala to Val substitution at amino acid 559 (hDAT A559V) was previously reported in individuals with bipolar disorder or attention-deficit hyperactivity disorder (ADHD). We have demonstrated that this variant is hyper-phosphorylated at the amino (N)-terminal serine (Ser) residues and promotes an anomalous DA efflux phenotype. Here, we report the novel identification of hDAT A559V in two unrelated ASD subjects and provide the first mechanistic description of its impaired trafficking phenotype. DAT surface expression is dynamically regulated by DAT substrates including the psychostimulant amphetamine (AMPH), which causes hDAT trafficking away from the plasma membrane. The integrity of DAT trafficking directly impacts DA transport capacity and therefore dopaminergic neurotransmission. Here, we show that hDAT A559V is resistant to AMPH-induced cell surface redistribution. This unique trafficking phenotype is conferred by altered protein kinase C beta (PKCbeta) activity. Cells expressing hDAT A559V exhibit constitutively elevated PKCbeta activity, inhibition of which restores the AMPH-induced hDAT A559V membrane redistribution. Mechanistically, we link the inability of hDAT A559V to traffic in response to AMPH to the phosphorylation of the five most distal DAT N-terminal Ser. Mutation of these N-terminal Ser to Ala restores AMPH-induced trafficking. Furthermore, hDAT A559V has a diminished ability to transport AMPH, and therefore lacks AMPH-induced DA efflux. Pharmacological inhibition of PKCbeta or Ser to Ala substitution in the hDAT A559V background restores AMPH-induced DA efflux while promoting intracellular AMPH accumulation. Although hDAT A559V is a rare variant, it has been found in multiple probands with neuropsychiatric disorders associated with imbalances in DA neurotransmission, including ADHD, bipolar disorder, and now ASD. These findings provide valuable insight into a new cellular phenotype (altered hDAT trafficking) supporting dysregulated DA function in these disorders. They also provide a novel potential target (PKCbeta) for therapeutic interventions in individuals with ASD.
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4. Carlisle GK. {{The Social Skills and Attachment to Dogs of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Oct 12)
Children with Autism Spectrum Disorder (ASD) have deficits in social skills, and interaction with service dogs has been associated with increased social skills for children with ASD. In this telephone survey of 70 parents of children with ASD, children owning dogs had greater Mean scores for social skills, using the Social Skills Improvement System Rating Scale, while those with some type of pet (not excluding dogs) had significantly greater skills for subscale item « assertion ». Parents described their children as attached to their dogs. Children owning dogs completed the Companion Animal Bonding Scale, and reported strong bonding with dogs. These findings suggest children with ASD may bond with their dogs, and pet ownership may be associated with increased social skills.
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5. Chen J, Yu S, Fu Y, Li X. {{Synaptic proteins and receptors defects in autism spectrum disorders}}. {Front Cell Neurosci};2014;8:276.
Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms contribute to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95, SH3, and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin, and protocadherin, thousand-and-one-amino acid 2 kinase, and contactin, have been shown to play important roles in the development and function of synapses. In addition, synaptic receptors, such as gamma-aminobutyric acid receptors and glutamate receptors, have also been associated with ASDs. This review will primarily focus on the defects of synaptic proteins and receptors associated with ASDs and their roles in the pathogenesis of ASDs via synaptic pathways.
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6. Chuang HC, Huang TN, Hsueh YP. {{Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain}}. {Front Cell Neurosci};2014;8:280.
The activity-regulated gene expression of transcription factors is required for neural plasticity and function in response to neuronal stimulation. T-brain-1 (TBR1), a critical neuron-specific transcription factor for forebrain development, has been recognized as a high-confidence risk gene for autism spectrum disorders. Here, we show that in addition to its role in brain development, Tbr1 responds to neuronal activation and further modulates the Grin2b expression in adult brains and mature neurons. The expression levels of Tbr1 were investigated using both immunostaining and quantitative reverse transcription polymerase chain reaction (RT-PCR) analyses. We found that the mRNA and protein expression levels of Tbr1 are induced by excitatory synaptic transmission driven by bicuculline or glutamate treatment in cultured mature neurons. The upregulation of Tbr1 expression requires the activation of both alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) and N-methyl-D-aspartate (NMDA) receptors. Furthermore, behavioral training triggers Tbr1 induction in the adult mouse brain. The elevation of Tbr1 expression is associated with Grin2b upregulation in both mature neurons and adult brains. Using Tbr1-deficient neurons, we further demonstrated that TBR1 is required for the induction of Grin2b upon neuronal activation. Taken together with the previous studies showing that TBR1 binds the Grin2b promoter and controls expression of luciferase reporter driven by Grin2b promoter, the evidence suggests that TBR1 directly controls Grin2b expression in mature neurons. We also found that the addition of the calcium/calmodulin-dependent protein kinase II (CaMKII) antagonist KN-93, but not the calcium-dependent phosphatase calcineurin antagonist cyclosporin A, to cultured mature neurons noticeably inhibited Tbr1 induction, indicating that neuronal activation upregulates Tbr1 expression in a CaMKII-dependent manner. In conclusion, our study suggests that Tbr1 plays an important role in adult mouse brains in response to neuronal activation to modulate the activity-regulated gene transcription required for neural plasticity.
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7. Ditzian K, Wilder DA, King A, Tanz J. {{An evaluation of the performance diagnostic checklist-human services to assess an employee performance problem in a center-based autism treatment facility}}. {J Appl Behav Anal};2014 (Oct 14)
The Performance Diagnostic Checklist-Human Services (PDC-HS) is an informant-based tool designed to assess the environmental variables that contribute to poor employee performance in human services settings. We administered the PDC-HS to 3 supervisors to assess the variables that contributed to poor performance by 4 staff members when securing clients in therapy rooms at a treatment center for children with autism. The PDC-HS identified a lack of appropriate consequences as contributing to poor staff performance. We then evaluated a PDC-HS-indicated intervention as well as an intervention not suggested by PDC-HS results. The PDC-HS-indicated intervention (graphed feedback) was effective to increase performance; the non-PDC-HS-based intervention was ineffective.
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8. Ervin DA, Merrick J. {{Intellectual and developmental disability: healthcare financing}}. {Front Public Health};2014;2:160.
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9. Fisher WW, Pawich TL, Dickes N, Paden AR, Toussaint K. {{Increasing the saliency of behavior-consequence relations for children with autism who exhibit persistent errors}}. {J Appl Behav Anal};2014 (Oct 14)
Some children with autism spectrum disorders (ASD) display persistent errors that are not responsive to commonly used prompting or error-correction strategies; one possible reason for this is that the behavior-consequence relations are not readily discriminable (Davison & Nevin, 1999). In this study, we increased the discriminability of the behavior-consequence relations in conditional-discrimination acquisition tasks for 3 children with ASD using schedule manipulations in concert with a unique visual display designed to increase the saliency of the differences between consequences in effect for correct responding and for errors. A multiple baseline design across participants was used to show that correct responding increased for all participants, and, after 1 or more exposures to the intervention, correct responding persisted to varying degrees across participants when the differential reinforcement baseline was reintroduced to assess maintenance. These findings suggest that increasing the saliency of behavior-consequence relations may help to increase correct responding in children with ASD who exhibit persistent errors.
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10. Goldman S, DeNigris D. {{Parents’ Strategies to Elicit Autobiographical Memories in Autism Spectrum Disorders, Developmental Language Disorders and Typically Developing Children}}. {J Autism Dev Disord};2014 (Oct 14)
Conversations about the past support the development of autobiographical memory. Parents’ strategies to elicit child’s participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD, n = 11). We focused on the prevalence of directives versus enrichment of events. Groups did not differ in number of events, length, and total turns. However, parents of children with ASD produced more direct questions, corrections, and unrelated turns than parents of TD children. Results highlight how parents adjusted their conversational style to their child’s communication difficulties to maximize interactions and how these strategies may affect the development of personal conversations.
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11. Haar S, Berman S, Behrmann M, Dinstein I. {{Anatomical Abnormalities in Autism?}}. {Cereb Cortex};2014 (Oct 14)
Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange ( approximately 1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals’ group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old.
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12. Irwin J, Preston J, Brancazio L, D’Angelo M, Turcios J. {{Development of an audiovisual speech perception app for children with autism spectrum disorders}}. {Clin Linguist Phon};2014 (Oct 14):1-8.
Abstract Perception of spoken language requires attention to acoustic as well as visible phonetic information. This article reviews the known differences in audiovisual speech perception in children with autism spectrum disorders (ASD) and specifies the need for interventions that address this construct. Elements of an audiovisual training program are described. This researcher-developed program delivered via an iPad app presents natural speech in the context of increasing noise, but supported with a speaking face. Children are cued to attend to visible articulatory information to assist in perception of the spoken words. Data from four children with ASD ages 8-10 are presented showing that the children improved their performance on an untrained auditory speech-in-noise task.
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13. Kao YC, Kramer JM, Liljenquist K, Coster WJ. {{Association between impairment, function, and daily life task management in children and adolescents with autism}}. {Dev Med Child Neurol};2014 (Oct 14)
AIM: This cross-sectional study examined whether impairments or functional skills are associated with the level of responsibility for life tasks for children and adolescents with autism spectrum disorders (ASDs). METHOD: Parents of 263 children and adolescents with ASDs (215 males; 48 females; mean age 12y 6mo [SD 4y 6mo], range 3-21y) completed an online survey that included the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test – Autism Spectrum Disorders (PEDI-CAT-ASD) Daily Activities, Social/Cognitive, and Responsibility domains, a demographic questionnaire, and the Social Communication Questionnaire (SCQ) Current. The International Classification of Functioning, Disability and Health Framework guided the selection of model variables. We used hierarchical multiple regression to examine the relationship between impairment and functional skill predictor variables and the outcome variable, Responsibility. Age was entered in step 1 to control for the impact of development. SCQ Current, IQ, and remaining PEDI-CAT-ASD domains were then entered in step 2. RESULTS: After controlling for age, the model showed that step 2 predictor variables representing both impairments and functional skill improved the model (p<0.001). All variables except the SCQ score were significant predictors of Responsibility. The variance explained by the Daily Activities (2.7%) and Social/Cognitive (4.8%) domain scores was greater than IQ (0.3%). INTERPRETATION: The functional skills of Daily Activities and Social/Cognitive domains were more strongly associated with the management of life tasks than impairments after controlling for age.
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14. Merrick J, Uldall P, Volther J. {{Intellectual and developmental disabilities: denmark, normalization, and de-institutionalization}}. {Front Public Health};2014;2:161.
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15. Nader AM, Courchesne V, Dawson M, Soulieres I. {{Does WISC-IV Underestimate the Intelligence of Autistic Children?}}. {J Autism Dev Disord};2014 (Oct 12)
Wechsler Intelligence Scale for Children (WISC) is widely used to estimate autistic intelligence (Joseph in The neuropsychology of autism. Oxford University Press, Oxford, 2011; Goldstein et al. in Assessment of autism spectrum disorders. Guilford Press, New York, 2008; Mottron in J Autism Dev Disord 34(1):19-27, 2004). However, previous studies suggest that while WISC-III and Raven’s Progressive Matrices (RPM) provide similar estimates of non-autistic intelligence, autistic children perform significantly better on RPM (Dawson et al. in Psychol Sci 18(8):657-662, doi: 10.1111/j.1467-9280.2007.01954.x , 2007). The latest WISC version introduces substantial changes in subtests and index scores; thus, we asked whether WISC-IV still underestimates autistic intelligence. Twenty-five autistic and 22 typical children completed WISC-IV and RPM. Autistic children’s RPM scores were significantly higher than their WISC-IV FSIQ, but there was no significant difference in typical children. Further, autistic children showed a distinctively uneven WISC-IV index profile, with a « peak » in the new Perceptual Reasoning Index. In spite of major changes, WISC-IV FSIQ continues to underestimate autistic intelligence.
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16. Stasolla F, Perilli V, Di Leone A, Damiani R, Albano V, Stella A, Damato C. {{Technological aids to support choice strategies by three girls with Rett syndrome}}. {Res Dev Disabil};2014 (Oct 10);36C:36-44.
This study was aimed at extending the use of assistive technology (i.e. photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose of the study was to reduce stereotypic behaviors exhibited by the participants involved (i.e. body rocking, hand washing and hand mouthing). Finally, a third goal of the study was to monitor the effects of such program on the participants’ indices of happiness. The study was carried out according to a multiple probe design across responses for each participant. Results showed that the three girls increased the adaptive responses and decreased the stereotyped behaviors during intervention phases compared to baseline. Moreover, during intervention phases, the indices of happiness augmented for each girl as well. Clinical, psychological and rehabilitative implications of the findings are discussed.
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17. Tsilioni I, Dodman N, Petra AI, Taliou A, Francis K, Moon-Fanelli A, Shuster L, Theoharides TC. {{Elevated serum neurotensin and CRH levels in children with autistic spectrum disorders and tail-chasing Bull Terriers with a phenotype similar to autism}}. {Transl Psychiatry};2014;4:e466.
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by defects in communication and social interactions, as well as stereotypic behaviors. Symptoms typically worsen with anxiety and stress. ASD occur in early childhood, often present with regression and have a prevalence of 1 out of 68 children. The lack of distinct pathogenesis or any objective biomarkers or reliable animal models hampers our understanding and treatment of ASD. Neurotensin (NT) and corticotropin-releasing hormone (CRH) are secreted under stress in various tissues, and have proinflammatory actions. We had previously shown that NT augments the ability of CRH to increase mast cell (MC)-dependent skin vascular permeability in rodents. CRH also induced NT receptor gene and protein expression in MCs, which have been implicated in ASD. Here we report that serum of ASD children (4-10 years old) has significantly higher NT and CRH levels as compared with normotypic controls. Moreover, there is a statistically significant correlation between the number of children with gastrointestinal symptoms and high serum NT levels. In Bull Terriers that exhibit a behavioral phenotype similar to the clinical presentation of ASD, NT and CRH levels are also significantly elevated, as compared with unaffected dogs of the same breed. Further investigation of serum NT and CRH, as well as characterization of this putative canine breed could provide useful insights into the pathogenesis, diagnosis and treatment of ASD.
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18. Tyler K, MacDonald M, Menear K. {{Physical activity and physical fitness of school-aged children and youth with autism spectrum disorders}}. {Autism Res Treat};2014;2014:312163.
Autism spectrum disorder (ASD) is characterized by impairments in social communication deficits and the presence of restricted and repetitive behaviors, interests, or activities. Literature comparing the physical activity and fitness of children with ASD to typically developing peers is in need of attention. The purpose of this investigation was to examine the physical activity and fitness of school-aged children with ASD (N = 17) in comparison to typically developing peers (N = 12). Participants with ASD completed diagnostic and developmental assessments and a series of physical fitness assessments: 20-meter multistage shuttle, sit-and-reach test, handgrip strength, and body mass index. Physical activity was measured using accelerometry and preestablished cut-points of physical activity (Freedson et al., 2005). MANCOVA revealed significant between-group effects in strength (P = .03), while ANCOVA revealed significant between-group effects in sedentary (P = .00), light (P = .00), moderate (P = .00), and total moderate-to-vigorous (P = .01) physical activity. Children with ASD are less physically active and fit than typically developing peers. Adapted physical activity programs are one avenue with intervention potential to combat these lower levels of physical activity and fitness found in children with ASD.
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19. Whiteley P. {{Nutritional management of (some) autism: a case for gluten- and casein-free diets?}}. {Proc Nutr Soc};2014 (Oct 14):1-6.
Autism spectrum disorders represent a diverse and heterogeneous array of conditions unified by the variable presence of specific behaviours impacting social and communicative functions (social affect) alongside other presentation. Common overt characteristics may come about as a consequence of several different genetic and biological processes differentially manifesting across different people or groups. The concept of plural ‘autisms’ is evolving, strengthened by an increasingly important evidence base detailing different developmental trajectories across the autism spectrum and the appearance of comorbidity variably interacting with core symptoms and onwards influencing quality of life. Reports that dietary intervention, specifically the removal of foods containing gluten and/or casein from the diet, may impact on the presentation of autism for some, complement this plural view of autism. Evidence suggestive of differing responses to the use of a gluten- and casein-free diet, defined as best- and non-response, has combined with some progress on determining the underlying genetic and biological correlates potentially related to such dietary elements. The preliminary suggestion of a possible diet-related autism phenotype is the result. This review will highlight several pertinent aspects onwards to an effect of food in some cases of autism including research on the pharmacological activity of food metabolites, immune response, issues with gut barrier function and some contribution from the gut microbiota. These represent promising areas in need of far greater research inspection in order to potentially define such a diet-related subgroup on the autism spectrum.
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20. Woods AG, Wormwood KL, Wetie AG, Aslebagh R, Crimmins BS, Holsen TM, Darie CC. {{Autism spectrum disorder: An omics perspective}}. {Proteomics Clin Appl};2014 (Oct 14)
Current directions in autism spectrum disorder (ASD) research may require moving beyond genetic analysis alone, based on the complexity of the disorder, heterogeneity and convergence of genetic alterations at the cellular/functional level. Mass spectrometry (MS) has been increasingly used to study central nervous system (CNS) disorders, including ASDs. Proteomic research using MS is directed at understanding endogenous protein changes that occur in ASD. This review focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using MS, including fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS), genetic syndromes highly associated with ASD comorbidity. This article is protected by copyright. All rights reserved.
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21. Xu X, Miller EC, Pozzo-Miller L. {{Dendritic spine dysgenesis in Rett syndrome}}. {Front Neuroanat};2014;8:97.
Spines are small cytoplasmic extensions of dendrites that form the postsynaptic compartment of the majority of excitatory synapses in the mammalian brain. Alterations in the numerical density, size, and shape of dendritic spines have been correlated with neuronal dysfunction in several neurological and neurodevelopmental disorders associated with intellectual disability, including Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder associated with intellectual disability that is caused by loss of function mutations in the transcriptional regulator methyl CpG-binding protein 2 (MECP2). Here, we review the evidence demonstrating that principal neurons in RTT individuals and Mecp2-based experimental models exhibit alterations in the number and morphology of dendritic spines. We also discuss the exciting possibility that signaling pathways downstream of brain-derived neurotrophic factor (BDNF), which is transcriptionally regulated by MeCP2, offer promising therapeutic options for modulating dendritic spine development and plasticity in RTT and other MECP2-associated neurodevelopmental disorders.
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22. Zwaigenbaum L. {{Congenital anomalies and etiological diversity in autism}}. {Dev Med Child Neurol};2014 (Oct 14)
