1. Cadogan S, McCrimmon AW. {{Pivotal response treatment for children with autism spectrum disorder: A systematic review of research quality}}. {Dev Neurorehabil};2013 (Nov 1)
Abstract Objective: Research has indicated support for pivotal response treatment (PRT) as an effective, efficacious and naturalistic intervention for communication and social functioning of children with autism spectrum disorder (ASD). Previously not undertaken, this article describes a systematic evaluation of the adherence of PRT research studies to standards of ASD research quality. Method: A systematic search was conducted on two databases. Seventeen PRT studies were evaluated on their use of seven specified research standards. Results: Strong adherence to research quality standards was demonstrated in the use of standardized protocols, systematic application of intervention procedures, inter-rater reliability and objective evaluators. Variation was found in adherence to treatment fidelity standards and in the use of longitudinal designs. Only two studies implemented comparison designs. Conclusion: It is recommended that researchers compare interventions, use longitudinal designs, better describe their methodology and implement greater adherence to treatment fidelity to enhance research quality and strengthen conclusions.
Lien vers le texte intégral (Open Access ou abonnement)
2. Carlisle GK. {{Pet Dog Ownership Decisions for Parents of Children With Autism Spectrum Disorder}}. {J Pediatr Nurs};2013 (Oct 16)
This study aimed to examine the role of pet dogs in families of children with autism. Sixty-seven percent of families owned dogs and 94% reported that their children were bonded to their dogs. Parents described previous experience with dogs and beliefs in their benefits as influential in their dog ownership decision-making process. Children living with dogs interacted with them in play and/or sharing personal space. Sensory issues of the children impacted their interaction with dogs inside and outside the home. Time and cost of care were identified burdens of dog ownership. Benefits were the opportunity to learn responsibility and companionship.
Lien vers le texte intégral (Open Access ou abonnement)
3. Esch CE, Zeidler S, Willemsen R. {{Translational endpoints in fragile x syndrome}}. {Neurosci Biobehav Rev};2013 (Oct 30)
Fragile X syndrome (FXS) occurs in less than 10% of the intellectually disabled (ID) population. The cause of FXS is a CGG trinucleotide repeat longer than 200 CGG units within the first exon of the FMR1 gene, which leads to hypermethylation and consequently silencing of the FMR1 gene. The lack of FMR1’s gene product, the fragile X mental retardation protein (FMRP) in neurons is the cause of the ID in patients with FXS. FMRP plays an important role in local protein synthesis at the synapse including modulation of synaptic plasticity. The advancing knowledge about the cellular function of FMRP has led to the identification of translational endpoints for future therapeutic intervention strategies. This review highlights the challenging routes to the identification of reliable outcome measures in preclinical studies using both cellular models and Fmr1 knockout mice. Finally, clinical studies carried out to correct intellectual and behavioral deficits in patients with FXS, using a variety of existing and new drugs, are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
4. Garcia-Junco-Clemente P, Chow DK, Tring E, Lazaro MT, Trachtenberg JT, Golshani P. {{Overexpression of calcium-activated potassium channels underlies cortical dysfunction in a model of PTEN-associated autism}}. {Proc Natl Acad Sci U S A};2013 (Nov 5);110(45):18297-18302.
De novo phosphatase and tensin homolog on chromosome ten (PTEN) mutations are a cause of sporadic autism. How single-copy loss of PTEN alters neural function is not understood. Here we report that Pten haploinsufficiency increases the expression of small-conductance calcium-activated potassium channels. The resultant augmentation of this conductance increases the amplitude of the afterspike hyperpolarization, causing a decrease in intrinsic excitability. In vivo, this change in intrinsic excitability reduces evoked firing rates of cortical pyramidal neurons but does not alter receptive field tuning. The decreased in vivo firing rate is not associated with deficits in the dendritic integration of synaptic input or with changes in dendritic complexity. These findings identify calcium-activated potassium channelopathy as a cause of cortical dysfunction in the PTEN model of autism and provide potential molecular therapeutic targets.
Lien vers le texte intégral (Open Access ou abonnement)
5. Harris B, Barton EE, Albert C. {{Evaluating Autism Diagnostic and Screening Tools for Cultural and Linguistic Responsiveness}}. {J Autism Dev Disord};2013 (Nov 2)
While clear guidelines and best practices exist for the assessment of autism spectrum disorders (ASD), little information is available about assessing for ASD in culturally and linguistically diverse (CLD) populations. CLD populations might be misidentified and under-identified with ASD due to the assessment practices that we employ. Four autism diagnostic tools and six autism screeners were selected and evaluated for their cultural and linguistic responsiveness. Although the evaluation of ASD within CLD populations is highly complex, this study identified the need for improved autism assessment tools and practices. Without the appropriate assessment of these populations, CLD children will likely continue to be misidentified (or not identified at all) and will miss crucial intervention opportunities.
Lien vers le texte intégral (Open Access ou abonnement)
6. Kana RK, Liu Y, Williams DL, Keller TA, Schipul SE, Minshew NJ, Just MA. {{The local, global, and neural aspects of visuospatial processing in autism spectrum disorders}}. {Neuropsychologia};2013 (Oct 30)
Behavioral studies have documented a relative advantage in some aspects of visuospatial cognition in autism although it is not consistently found in higher functioning individuals with autism. The purpose of this functional neuroimaging study was to examine the neural activity in high functioning individuals with autism while they performed a block design task that systematically varied with regard to whether a global pattern was present. Participants were 14 adults with high-functioning autism and 14 age and IQ matched typical controls. The task was to identify a missing block in target figures which had either an obvious global shape or was an arbitrary array of blocks. Behavioral results showed intact, but not superior, performance in our participants with autism. A key group difference was that the participants with autism showed reliably greater activation in occipital and parietal regions in both tasks suggesting an increased reliance of the autism group on posterior brain areas to mediate visuospatial tasks. Thus, increased reliance on relatively posterior brain regions in itself may not guarantee superior performance as seen in the present study.
Lien vers le texte intégral (Open Access ou abonnement)
7. Luyster RJ, Powell C, Tager-Flusberg H, Nelson CA. {{Neural measures of social attention across the first years of life: Characterizing typical development and markers of autism risk}}. {Dev Cogn Neurosci};2013 (Oct 17)
Few studies employing event-related potentials (ERPs) to examine infant perception/cognition have systematically characterized age-related changes over the first few years of life. Establishing a ‘normative’ template of development is important in its own right, and doing so may also better highlight points of divergence for high-risk populations of infants, such as those at elevated genetic risk for autism spectrum disorder (ASD). The present investigation explores the developmental progression of the P1, N290, P400 and Nc components for a large sample of young children between 6 and 36 months of age, addressing age-related changes in amplitude, sensitivity to familiar and unfamiliar stimuli and hemispheric lateralization. Two samples of infants are included: those at low- and high-risk for ASD. The four components of interest show differential patterns of change over time and hemispheric lateralization; however, infants at low- and high-risk for ASD do not show significant differences in patterns of neural response to faces. These results will provide a useful point of reference for future developmental cognitive neuroscience research targeting both typical development and vulnerable populations.
Lien vers le texte intégral (Open Access ou abonnement)
8. Polo-Kantola P, Lampi KM, Hinkka-Yli-Salomaki S, Gissler M, Brown AS, Sourander A. {{Obstetric Risk Factors and Autism Spectrum Disorders in Finland}}. {J Pediatr};2013 (Oct 30)
OBJECTIVE: To examine the relationship between obstetric risk factors and childhood autism, Asperger syndrome, and other pervasive developmental disorders (PDDs). STUDY DESIGN: Registry-based case-control study from all singleton births in Finland from 1990-2005. Cases with childhood autism, Asperger syndrome, or PDD (n = 4713) were identified from the Finnish Hospital Discharge Register. Each case was matched to 4 controls on sex, date of birth, and place of birth. Information on obstetric risk factors was from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. RESULTS: When adjusted with confounders, childhood autism was associated with maternal high blood pressure (OR 1.49, 95% CI 1.1-2.1, P = .018), Apgar scores less than 7 (1 minute, OR 1.46, 95% CI 1.1-2.0, P = .021), and neonatal treatment with monitoring (OR 1.40, 95% CI 1.02-1.9, P = .038). PDD was associated with induced labor (OR 1.25 95% CI 1.1-1.5, P = .007), planned cesarean delivery (OR 1.34, 95% CI 1.1-1.7, P = .009), 1-minute Apgar scores 7-8 ( OR 1.22, 95% CI 1.1-1.4, P = .008) and less than 7 (OR 1.34, 95% CI 1.03-1.8, P = .032), and neonatal intensive care unit treatment (OR 1.52, 95% CI 1.2-2.0, P = .003). Asperger syndrome was associated only with 1-minute Apgar scores 7-8 (OR 1.19, 95% CI 1.03-1.4, P = .018). CONCLUSIONS: Low Apgar scores as well as conditions requiring neonatal special follow-up are important risk factors for childhood autism and PDD. These findings suggest that fetal distress is a potential risk factor for these disorders, but not for Asperger syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
9. Rance G, Saunders K, Carew P, Johansson M, Tan J. {{The Use of Listening Devices to Ameliorate Auditory Deficit in Children with Autism}}. {J Pediatr};2013 (Oct 30)
OBJECTIVES: To evaluate both monaural and binaural processing skills in a group of children with autism spectrum disorder (ASD) and to determine the degree to which personal frequency modulation (radio transmission) (FM) listening systems could ameliorate their listening difficulties. STUDY DESIGN: Auditory temporal processing (amplitude modulation detection), spatial listening (integration of binaural difference cues), and functional hearing (speech perception in background noise) were evaluated in 20 children with ASD. Ten of these subsequently underwent a 6-week device trial in which they wore the FM system for up to 7 hours per day. RESULTS: Auditory temporal processing and spatial listening ability were poorer in subjects with ASD than in matched controls (temporal: P = .014 [95% CI -6.4 to -0.8 dB], spatial: P = .003 [1.0 to 4.4 dB]), and performance on both of these basic processing measures was correlated with speech perception ability (temporal: r = -0.44, P = .022; spatial: r = -0.50, P = .015). The provision of FM listening systems resulted in improved discrimination of speech in noise (P < .001 [11.6% to 21.7%]). Furthermore, both participant and teacher questionnaire data revealed device-related benefits across a range of evaluation categories including Effect of Background Noise (P = .036 [-60.7% to -2.8%]) and Ease of Communication (P = .019 [-40.1% to -5.0%]). Eight of the 10 participants who undertook the 6-week device trial remained consistent FM users at study completion. CONCLUSIONS: Sustained use of FM listening devices can enhance speech perception in noise, aid social interaction, and improve educational outcomes in children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Rustan OG, Folsom TD, Yousefi MK, Fatemi SH. {{Phosphorylated fragile X mental retardation protein at serine 499, is reduced in cerebellar vermis and superior frontal cortex of subjects with autism: implications for fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling}}. {Mol Autism};2013 (Nov 1);4(1):41.
Lohith et al. (Mol Autism 4:15, 2013) recently identified increased metabotropic glutamate receptor 5 (mGluR5) expression in the frontal cortex (FC) of subjects with fragile X syndrome. These results are consistent with postmortem findings in cerebellar vermis and FC of subjects with autism (Fatemi and Folsom, Mol Autism 2:6, 2011; Fatemi et al. Anat Rec 294:1635–1645, 2011), suggesting that increased mGluR5 signaling is common to multiple autism spectrum disorders. Increased mGluR5 signaling may be associated with reduced phosphorylation of fragile X mental retardation protein (FMRP), which could result in the inactivation of this protein. In the current study, we report on reduced expression of phosphorylated FMRP in cerebellar vermis of adults and children with autism and in FC of adults with autism.
Lien vers le texte intégral (Open Access ou abonnement)
11. Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak RJ, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG. {{Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction}}. {Mol Psychiatry};2013 (Nov 5)
Lien vers le texte intégral (Open Access ou abonnement)
12. Vanderkerken L, Heyvaert M, Maes B, Onghena P. {{Psychosocial interventions for reducing vocal challenging behavior in persons with autistic disorder: A multilevel meta-analysis of single-case experiments}}. {Res Dev Disabil};2013 (Oct 30)
Vocal challenging behavior (VCB) forms a common problem in individuals with autistic disorder. Since VCB is associated with negative outcomes for the individual and his or her environment, it is important to know how to manage this type of CB. To evaluate the effectiveness of several psychosocial interventions applied to decrease VCB in individuals with autistic disorder, we conducted a meta-analysis of single-case experiments (SCEs). Fifty-two SCEs, including 74 participants, were combined using a multilevel meta-analysis. The overall treatment effect was large and statistically significant. However, the effect varied significantly over the included studies and participants. Examining this variance, evidence was found for a moderator effect of VCB type and intervention type, with, on average, the largest effects for interventions used to reduce VCB including stereotypical VCB and for interventions containing both antecedent and consequence components. Age, gender, primary treatment setting, publication year, and study quality did not significantly moderate the intervention effect.
Lien vers le texte intégral (Open Access ou abonnement)
13. Wiley S, Gustafson S, Rozniak J. {{Needs of Parents of Children Who Are Deaf/Hard of Hearing With Autism Spectrum Disorder}}. {J Deaf Stud Deaf Educ};2013 (Nov 1)
Little is known about children who are deaf or hard of hearing (D/HH) with a coexisting autism spectrum disorder (ASD). The objective of our study was to understand the needs of children who are D/HH with coexisting ASD. We posed questions for group discussion about diagnostic process, impact of dual diagnosis on communication, and helpful resources. Four parents of three children participated. Challenges in the diagnostic process included the challenges in the appropriateness of the evaluation tools and the limited expertise of the professionals performing the evaluations. Broad-based special educational settings were perceived as helpful. Families described a range of broad-based communication strategies (spoken, sign, and written language, augmentative communication approaches). Families prioritized a focus on behavior and day-to-day functioning over academic performance. Families recognized the lack of professionals who understand ASD and deafness but have found the internet and technology as a mechanism to connect to information and families with similar needs.
Lien vers le texte intégral (Open Access ou abonnement)
14. Xia K, Guo H, Hu Z, Xun G, Zuo L, Peng Y, Wang K, He Y, Xiong Z, Sun L, Pan Q, Long Z, Zou X, Li X, Li W, Xu X, Lu L, Liu Y, Hu Y, Tian D, Long L, Ou J, Zhang L, Pan Y, Chen J, Peng H, Liu Q, Luo X, Su W, Wu L, Liang D, Dai H, Yan X, Feng Y, Tang B, Li J, Miedzybrodzka Z, Xia J, Zhang Z, Zhang X, St Clair D, Zhao J, Zhang F. {{Common genetic variants on 1p13.2 associate with risk of autism}}. {Mol Psychiatry};2013 (Nov 5)
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 x 10-8), non-synonymous rs6537835 (P=3.26 x 10-8) and rs1877455 (P=8.70 x 10-8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.Molecular Psychiatry advance online publication, 5 November 2013; doi:10.1038/mp.2013.146.
Lien vers le texte intégral (Open Access ou abonnement)
15. Zheng Z, Zhang L, Bekele E, Swanson A, Crittendon JA, Warren Z, Sarkar N. {{Impact of robot-mediated interaction system on joint attention skills for children with autism}}. {IEEE Int Conf Rehabil Robot};2013 (Jun);2013:1-8.
With Centers for Disease Control and Prevention prevalence estimates for children with autism spectrum disorder 1 in 88, identification and effective treatment of autism spectrum disorder (ASD) is often characterized as a public health emergency. There is an urgent need for more efficacious treatments whose realistic application will yield more substantial impact on the neurodevelopmental trajectories of young children with ASD. Robotic technology appears particularly promising for potential application to ASD intervention. Initial results applying robotic technology to ASD intervention have consistently demonstrated a unique potential to elicit interest and attention in young children with ASD. As such, technologies capable of intelligently harnessing this potential, along with capabilities for detecting and meaningfully responding to young children’s attention and behavior, may represent intervention platforms with substantial promise for impacting early symptoms of ASD. Our current work describes development and application of a novel adaptive robot-mediated interaction technology for facilitating early joint attention skills for children with ASD. The system is composed of a humanoid robot endowed with a prompt decision hierarchy to alter behavior in concert with reinforcing stimuli within an intervention environment to promote joint attention skills. Results of implementation of this system over time, including specific analyses of attentional bias and performance enhancement, with 6 young children with ASD are presented.
Lien vers le texte intégral (Open Access ou abonnement)
16. Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. {{Epigenetic Dysregulation of SHANK3 in Brain Tissues from Individuals with Autism Spectrum Disorders}}. {Hum Mol Genet};2013 (Nov 1)
The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling of 5 CpG islands (CGI-1 to CGI-5) in the SHANK3 gene in post mortem brain tissues from 54 ASD patients and 43 controls. We found significantly increased overall DNA methylation (epimutation) in three intragenic CGIs (CGI-2, CGI-3, and CGI-4). The increased methylation was clustered in the CGI-2 and CGI-4 in approximately 15% of ASD brain tissues. SHANK3 has an extensive array of mRNA splice variants resulting from combinations of 5 intragenic promoters and alternative splicing of coding exons. Altered expression and alternative splicing of SHANK3 isoforms were observed in brain tissues with increased methylation of SHANK3 CGIs in ASD brain tissues. A DNA methylation inhibitor modified the methylation of CGIs and altered the isoform-specific expression of SHANK3 in cultured cells. This study is the first to find altered methylation patterns in SHANK3 in ASD brain samples. Our finding provides evidence to support an alternative approach to investigating the molecular basis of ASD. The ability to alter the epigenetic modification and expression of SHANK3 by environmental factors suggests that SHANK3 may be a valuable biomarker for dissecting the role of gene and environment interaction in the etiology of ASD.
