1. Aresti-Bartolome N, Garcia-Zapirain B. {{Technologies as support tools for persons with autistic spectrum disorder: a systematic review}}. {Int J Environ Res Public Health};2014;11(8):7767-7802.
This study analyzes the technologies most widely used to work on areas affected by the Autistic Spectrum Disorder (ASD). Technologies can focus on the strengths and weaknesses of this disorder as they make it possible to create controlled environments, reducing the anxiety produced by real social situations. Extensive research has proven the efficiency of technologies as support tools for therapy and their acceptation by ASD sufferers and the people who are with them on a daily basis. This article is organized by the types of systems developed: virtual reality applications, telehealth systems, social robots and dedicated applications, all of which are classified by the areas they center on: communication, social learning and imitation skills and other ASD-associated conditions. 40.5% of the research conducted is found to be focused on communication as opposed to 37.8% focused on learning and social imitation skills and 21.6% which underlines problems associated with this disorder. Although most of the studies reveal how useful these tools are in therapy, they are generic tools for ASD sufferers in general, which means there is a lack of personalised tools to meet each person’s needs.
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2. Donaldson AL, Stahmer AC. {{Team Collaboration: The Use of Behavior Principles for Serving Students with ASD}}. {Lang Speech Hear Serv Sch};2014 (Aug 5)
Purpose: SLPs and behavior analysts are key members of school-based teams that serve children with autism spectrum disorders (ASD). Behavior analysts approach assessment and intervention through the lens of applied behavior analysis (ABA). ABA-based interventions have been found effective for targeting skills across multiple domains for children with ASD. However, some SLPs may be unfamiliar with the breadth of ABA-based interventions. The intent of this tutorial is to briefly introduce key ABA principles, provide examples of ABA-based interventions used within schools, and identify strategies for successful collaboration between behavior analysts and SLPs. Method: This tutorial draws from empirical studies of ABA-based interventions for children with ASD within school settings, as well as discussions in the extant literature about the use of behavior principles by SLPs, and strategies for interdisciplinary collaboration. Conclusion: Given the prevalence of ASD at 1 in 68 children (CDC, 2014) and the high cost of serving these children within schools (an average cost of 286% over regular education; Chambers, Shkolnik & Perez, 2003), the need for effective, comprehensive service provision and efficiency within interdisciplinary teams is paramount. Communication, mutual understanding, and recognition of common ground between SLPs and behavior analysts can lead to successful collaboration.
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3. Gallego PK, Burris JL, Rivera SM. {{Visual motion processing deficits in infants with the fragile X premutation}}. {J Neurodev Disord};2014;6(1):29.
BACKGROUND: Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene’s protein product, fragile X mental retardation protein (FMRP), ultimately causing cognitive and behavioral impairments that are characteristic of the syndrome. In our previous work with infants and toddlers with FXS, we have been able to describe much about their cognitive and visual processing abilities. In light of recent work on the mild cognitive deficits and functional and structural brain differences that are present in adults with the fragile X (FX) premutation, in the present study we examined whether some of the low-level visual processing deficits we have observed in infants with FXS would also be present in infants with the FX premutation (55-200 CGG repeats). METHODS: We chose a contrast detection task using second-order motion stimuli on which infants with FXS previously showed significantly increased detection thresholds (Vision Res 48:1471-1478, 2008). Critically, we also included a developmental delay comparison group of infants with Down syndrome (DS), who were matched to infants with FXS on both chronological and mental age, to speak to the question of whether this second-order motion processing deficit is a FX-specific phenomenon. RESULTS: As reported previously, infants with the FX full mutation showed motion contrast detection threshold levels that were significantly higher than age-matched typically developing control infants. Strikingly, the motion detection contrast levels of FX premutation infants were also significantly higher than typically developing (TD) infants and not significantly different from the group of infants with FXS or with DS. CONCLUSIONS: These results, which are in keeping with a growing body of evidence on the mild cognitive and perceptual processing deficits and functional and structural brain differences that are present in adults and older children with the FX premutation, underscore the pressing need to study and describe the processing capabilities of infants and toddlers with the FX premutation.
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4. Hiroi N, Hiramoto T, Harper KM, Suzuki G, Boku S. {{Mouse Models of 22q11.2-Associated Autism Spectrum Disorder}}. {Autism Open Access};2012;Suppl 1:001.
Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genesTbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms.
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5. Kennedy DP, Adolphs R. {{Violations of personal space by individuals with autism spectrum disorder}}. {PLoS One};2014;9(8):e103369.
The ability to maintain an appropriate physical distance (i.e., interpersonal distance) from others is a critical aspect of social interaction and contributes importantly to real-life social functioning. In Study 1, using parent-report data that had been acquired on a large number of individuals (ages 4-18 years) for the Autism Genetic Resource Exchange and the Simons Simplex Collection, we found that those with Autism Spectrum Disorder (ASD; n = 766) more often violated the space of others compared to their unaffected siblings (n = 766). This abnormality held equally across ASD diagnostic categories, and correlated with clinical measures of communication and social functioning. In Study 2, laboratory experiments in a sample of high-functioning adults with ASD demonstrated an altered relationship between interpersonal distance and personal space, and documented a complete absence of personal space in 3 individuals with ASD. Furthermore, anecdotal self-report from several participants confirmed that violations of social distancing conventions continue to occur in real-world interactions through adulthood. We suggest that atypical social distancing behavior offers a practical and sensitive measure of social dysfunction in ASD, and one whose psychological and neurological substrates should be further investigated.
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6. Ko WR, Huang JY, Chiang YC, Nfor ON, Ko PC, Jan SR, Lung CC, Chang HC, Lin LY, Liaw YP. {{Risk of autistic disorder after exposure to general anaesthesia and surgery: A nationwide, retrospective matched cohort study}}. {Eur J Anaesthesiol};2014 (Aug 6)
BACKGROUND: Deficits of learning, memory and cognition have been observed in newborn animals exposed to general anaesthetics. However, conclusions from clinical studies conducted in humans to investigate the relationship between anaesthesia and neurodevelopmental disorders have been inconsistent. Autistic disorder is typically recognised earlier than other neurobehavioural disorders. Although certain genes apparently contribute to autistic disorder susceptibility, other factors such as perinatal insults and exposure to neurotoxic agents may play a crucial role in gene-environmental interaction. OBJECTIVE: This study was designed to investigate the association of exposure to general anaesthesia/surgery with autistic disorder. We hypothesised that exposure to general anaesthesia and surgery before 2 years of age is associated with an increased risk of developing autistic disorder. DESIGN: A retrospective matched-cohort study. SETTING: A medical university. Data from the National Health Insurance Research Database of Taiwan from 2001 to 2010 were analysed. PATIENTS: The birth cohort included 114 435 children, among whom 5197 were exposed to general anaesthesia and surgery before the age of 2 years. The 1 : 4 matched controls comprised 20 788 children. MAIN OUTCOME MEASURES: The primary endpoint was the diagnosis of autistic disorder after the first exposure to general anaesthesia and surgery. RESULTS: No differences were found in the incidence of autistic disorder between the exposed group (0.96%) and the unexposed controls (0.89%) (P = 0.62). Cox proportional regression showed that the hazard ratio of exposure to general anaesthesia and surgery was 0.93 [95% confidence interval (95% CI) 0.57 to 1.53] after adjusting for potential confounders. Age at first exposure did not influence the risk of autistic disorder. No relationship was found between the total number of exposures and the risk of autistic disorder. CONCLUSION: Exposure to general anaesthesia and surgery before the age of 2 years, age at first exposure and number of exposures were not associated with the development of autistic disorder.
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7. Kover ST, Davidson MM, Sindberg HA, Weismer SE. {{Use of the ADOS for Assessing Spontaneous Expressive Language in Young Children with ASD: A Comparison of Sampling Contexts}}. {J Speech Lang Hear Res};2014 (Aug 5)
Purpose: The current study compared the spontaneous expressive language of children with autism spectrum disorder (ASD) across multiple language sampling contexts: the Autism Diagnostic Observation Schedule (ADOS) and play with an examiner or parent. Method: Participants were children with ASD (n = 63; 55 males) with a mean age of 45 months (SD = 3.94; Range = 37-53). The number of utterances produced, percent intelligibility, number of different words, mean length of utterance, and the number of requests, comments, and instances of turn-taking were calculated for the ADOS, examiner-child play, and parent-child play. Children were categorized into Tager-Flusberg et al.’s (2009) developmental language phases for each context. Result: Effects of sampling context were identified for all variables examined. The ADOS resulted in fewer utterances and lower structural and pragmatic language performance than examiner- and/or parent-child play. Categorization of children into language phases differed across contexts. Conclusion: Use of the ADOS as a language sampling context may lead to underestimating the abilities of young children with ASD relative to play with an examiner or parent. Researchers and clinicians should be aware of context effects, particularly for assessments designed to observe autism symptoms.
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8. Lewis S. {{Neurodegenerative disease: Brain-gut connection in autism?}}. {Nat Rev Neurosci};2014 (Aug 6)
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9. LoParo D, Waldman ID. {{The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis}}. {Mol Psychiatry};2014 (Aug 5)
The oxytocin receptor gene (OXTR) has been studied as a risk factor for autism spectrum disorder (ASD) owing to converging evidence from multiple levels of analysis that oxytocin (OXT) has an important role in the regulation of affiliative behavior and social bonding in both nonhuman mammals and humans. Inconsistency in the effect sizes of the OXTR variants included in association studies render it unclear whether OXTR is truly associated with ASD, and, if so, which OXTR single-nucleotide polymorphisms (SNPs) are associated. Thus, a meta-analytic review of extant studies is needed to determine whether OXTR shows association with ASD, and to elucidate which specific SNPs have a significant effect on ASD. The current meta-analysis of 16 OXTR SNPs included 3941 individuals with ASD from 11 independent samples, although analyses of each individual SNP included a subset of this total. We found significant associations between ASD and the SNPs rs7632287, rs237887, rs2268491 and rs2254298. OXTR was also significantly associated with ASD in a gene-based test. The current meta-analysis is the largest and most comprehensive investigation of the association of OXTR with ASD and the findings suggest directions for future studies of the etiology of ASD.Molecular Psychiatry advance online publication, 5 August 2014; doi:10.1038/mp.2014.77.
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10. Maurer BT. {{Revising the CHAT checklist for autism disorders}}. {JAAPA};2014 (Aug 4)
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11. Parker KJ, Garner JP, Libove RA, Hyde SA, Hornbeak KB, Carson DS, Liao CP, Phillips JM, Hallmayer JF, Hardan AY. {{Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder}}. {Proc Natl Acad Sci U S A};2014 (Aug 4)
The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals and humans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTR SNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3-12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly and positively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h2 = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the « G » allele of rs53576 showed impaired affect recognition performance and carriers of the « A » allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences on individual differences in human social functioning, including the severe social impairments which characterize ASD.
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12. Pathania M, Davenport EC, Muir J, Sheehan DF, Lopez-Domenech G, Kittler JT. {{The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines}}. {Transl Psychiatry};2014;4:e423.
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13. Rahbar MH, Samms-Vaughan M, Ma J, Bressler J, Loveland KA, Ardjomand-Hessabi M, Dickerson AS, Grove ML, Shakespeare-Pellington S, Beecher C, McLaughlin W, Boerwinkle E. {{Role of Metabolic Genes in Blood Arsenic Concentrations of Jamaican Children with and without Autism Spectrum Disorder}}. {Int J Environ Res Public Health};2014;11(8):7874-7895.
Arsenic is a toxic metalloid with known adverse effects on human health. Glutathione-S-transferase (GST) genes, including GSTT1, GSTP1, and GSTM1, play a major role in detoxification and metabolism of xenobiotics. We investigated the association between GST genotypes and whole blood arsenic concentrations (BASC) in Jamaican children with and without autism spectrum disorder (ASD). We used data from 100 ASD cases and their 1:1 age- and sex-matched typically developing (TD) controls (age 2-8 years) from Jamaica. Using log-transformed BASC as the dependent variable in a General Linear Model, we observed a significant interaction between GSTP1 and ASD case status while controlling for several confounding variables. However, for GSTT1 and GSTM1 we did not observe any significant associations with BASC. Our findings indicate that TD children who had the Ile/Ile or Ile/Val genotype for GSTP1 had a significantly higher geometric mean BASC than those with genotype Val/Val (3.67 microg/L vs. 2.69 microg/L, p < 0.01). Although, among the ASD cases, this difference was not statistically significant, the direction of the observed difference was consistent with that of the TD control children. These findings suggest a possible role of GSTP1 in the detoxification of arsenic.
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14. Rhodes G, Ewing L, Jeffery L, Avard E, Taylor L. {{Reduced adaptability, but No fundamental disruption, of norm-based face-coding mechanisms in cognitively able children and adolescents with autism}}. {Neuropsychologia};2014 (Aug 1)
Faces are adaptively coded relative to visual norms that are updated by experience. This coding is compromised in autism and the broader autism phenotype, suggesting that atypical adaptive coding of faces may be an endophenotype for autism. Here we investigate the nature of this atypicality, asking whether adaptive face-coding mechanisms are fundamentally altered, or simply less responsive to experience, in autism. We measured adaptive coding, using face identity aftereffects, in cognitively able children and adolescents with autism and neurotypical age- and ability-matched participants. We asked whether these aftereffects increase with adaptor identity strength as in neurotypical populations, or whether they show a different pattern indicating a more fundamental alteration in face-coding mechanisms. As expected, face identity aftereffects were reduced in the autism group, but they nevertheless increased with adaptor strength, like those of our neurotypical participants, consistent with norm-based coding of face identity. Moreover, their aftereffects correlated positively with face recognition ability, consistent with an intact functional role for adaptive coding in face recognition ability. We conclude that adaptive norm-based face-coding mechanisms are basically intact in autism, but are less readily calibrated by experience.
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15. Siegel M, Beresford CA, Bunker M, Verdi M, Vishnevetsky D, Karlsson C, Teer O, Stedman A, Smith KA. {{Preliminary Investigation of Lithium for Mood Disorder Symptoms in Children and Adolescents with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2014 (Aug 5)
Abstract Objective: Children with autism spectrum disorder (ASD) have higher rates of comorbid psychiatric disorders, including mood disorders, than the general child population. Although children with ASD may experience irritability (aggression, self-injury, and tantrums), a portion also experience symptoms that are typical of a mood disorder, such as euphoria/elevated mood, mania, hypersexuality, paranoia, or decreased need for sleep. Despite lithium’s established efficacy in controlling mood disorder symptoms in the neurotypical population, lithium has been rarely studied in children with ASD. Methods: We performed a retrospective chart review of 30 children and adolescents diagnosed with ASD by the, Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) criteria who were prescribed lithium in order to assess target symptoms, safety, and tolerability. Clinical Global Impressions – Improvement (CGI-I) ratings were performed by two board-certified child psychiatrists with expertise in ASD. CGI-I scores were dichotomized into « improved » (CGI-I score of 1 or 2) or « not improved » (CGI-I score >/=3). Results: Forty-three percent of patients who received lithium were rated as « improved » on the CGI-I. Seventy-one percent of patients who had two or more pretreatment mood disorder symptoms were rated as « improved. » The presence of mania (p=0.033) or euphoria/elevated mood (p=0.041) were the pretreatment symptoms significantly associated with an « improved » rating. The mean lithium blood level was 0.70 mEq/L (SD=0.26), and the average length of lithium treatment was 29.7 days (SD=23.9). Forty-seven percent of patients were reported to have at least one side effect, most commonly vomiting (13%), tremor (10%), fatigue (10%), irritability (7%), and enuresis (7%). Conclusions: This preliminary assessment of lithium in children and adolescents with ASD suggests that lithium may be a medication of interest for those who exhibit two or more mood disorder symptoms, particularly mania or euphoria/elevated mood. A relatively high side effect rate merits caution, and these results are limited by the retrospective, uncontrolled study design. Future study of lithium in a prospective trial with treatment-sensitive outcome measures may be indicated.
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16. Uppal N, Wicinski B, Buxbaum JD, Heinsen H, Schmitz C, Hof PR. {{Neuropathology of the Anterior Midcingulate Cortex in Young Children With Autism}}. {J Neuropathol Exp Neurol};2014 (Aug 6)
The anterior cingulate cortex, which is involved in cognitive and affective functioning, is important in investigating disorders in which individuals exhibit impairments in higher-order functions. In this study, we examined the anterior midcingulate cortex (aMCC) at the cellular level in patients with autism and in controls. We focused our analysis on layer V of the aMCC because it contains von Economo neurons, specialized cells thought to be involved in emotional expression and focused attention. Using a stereologic approach, we determined whether there were neuropathologic changes in von Economo neuron number, pyramidal neuron number, or pyramidal neuron size between diagnostic groups. When the groups were subdivided into young children and adolescents, pyramidal neuron and von Economo neuron numbers positively correlated with autism severity in young children, as measured by the Autism Diagnostic Interview-Revised. Young children with autism also had significantly smaller pyramidal neurons than their matched controls. Because the aMCC is involved in decision-making during uncertain situations, decreased pyramidal neuron size may reflect a potential reduction in the functional connectivity of the aMCC.
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17. Wang SS, Kloth AD, Badura A. {{The Cerebellum, Sensitive Periods, and Autism}}. {Neuron};2014 (Aug 6);83(3):518-532.
Cerebellar research has focused principally on adult motor function. However, the cerebellum also maintains abundant connections with nonmotor brain regions throughout postnatal life. Here we review evidence that the cerebellum may guide the maturation of remote nonmotor neural circuitry and influence cognitive development, with a focus on its relationship with autism. Specific cerebellar zones influence neocortical substrates for social interaction, and we propose that sensitive-period disruption of such internal brain communication can account for autism’s key features.
