1. Adler BA, Wink LK, Early M, Shaffer R, Minshawi N, McDougle CJ, Erickson CA. {{Drug-refractory aggression, self-injurious behavior, and severe tantrums in autism spectrum disorders: A chart review study}}. {Autism}. 2014 Feb 26.
Aggression, self-injurious behavior, and severe tantrums are impairing symptoms frequently experienced by individuals with autism spectrum disorders. Despite US Food and Drug Administration approval of two atypical antipsychotics targeting these symptoms in youth with autistic disorder, they remain frequently drug refractory. We define drug-refractory aggression, self-injurious behavior, and severe tantrums in people with autism spectrum disorders as behavioral symptoms requiring medication adjustment despite previous trials of risperidone and aripiprazole or previous trials of three psychotropic drugs targeting the symptom cluster, one of which was risperidone or aripiprazole. We reviewed the medical records of individuals of all ages referred to our clinic for autism spectrum disorder diagnostic evaluation, as well as pharmacotherapy follow-up notes for all people meeting autism spectrum disorder criteria, for drug-refractory symptoms. Among 250 consecutively referred individuals, 135 met autism spectrum disorder and enrollment criteria, and 53 of these individuals met drug-refractory symptom criteria. Factors associated with drug-refractory symptoms included age 12 years or older (p < 0.0001), diagnosis of autistic disorder (p = 0.0139), and presence of intellectual disability (p = 0.0273). This pilot report underscores the significance of drug-refractory aggression, self-injurious behavior, and severe tantrums; suggests the need for future study clarifying factors related to symptom development; and identifies the need for focused treatment study of this impairing symptom domain.
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2. Brodeur DA, Gordon Green C, Flores H, Burack JA. {{Time Estimation Among Low-Functioning Individuals With Autism Spectrum Disorders: Evidence of Poor Sensitivity to Variability of Short Durations}}. {Autism research : official journal of the International Society for Autism Research}. 2014 Feb 26.
Time estimation of short durations (under 1 sec) was examined in low-functioning individuals with autism spectrum disorder (ASD) and typically developing (TD) children matched on mental age. Temporal bisection and generalization tasks were used to examine basic perceptual timing mechanisms. For both tasks, the participants with ASD demonstrated less sensitivity to variability in short durations than the TD children, adding to a growing body of literature suggesting deficits in timing exist for longer durations. The results highlight the need to examine multiple levels of processing of time-related information from basic perceptual mechanisms to higher level cognitive mechanisms. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, Disney MD, Jaffrey SR. {{Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome}}. {Science (New York, NY)}. 2014 Feb 28;343(6174):1002-5.
Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its epigenetic silencing. Here, we show that FMR1 silencing is mediated by the FMR1 mRNA. The FMR1 mRNA contains the transcribed CGG-repeat tract as part of the 5′ untranslated region, which hybridizes to the complementary CGG-repeat portion of the FMR1 gene to form an RNA.DNA duplex. Disrupting the interaction of the mRNA with the CGG-repeat portion of the FMR1 gene prevents promoter silencing. Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide-repeat RNA and DNA.
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4. Happe F. {{International society for autism research news}}. {Autism research : official journal of the International Society for Autism Research}. 2014 Feb;7(1):180.
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5. Hathorn C, Alateeqi N, Graham C, O’Hare A. {{Impact of Adherence to Best Practice Guidelines on the Diagnostic and Assessment Services for Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014 Feb 27.
Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective analysis of comprehensive clinical notes demonstrated that the recommended discretionary use of structured history instruments was increased after medical training (p = 0.003). 56 % (51/90) of children received the diagnosis of ASD at their initial specialist appointment. 51 % underwent the recommended discretionary structured observational instrument. This further assessment was more likely to be required for older children in the reaudited group (p = 0.001). The implications for service capacity planning when delivering best practice recommendations are discussed.
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6. Head AM, McGillivray JA, Stokes MA. {{Gender differences in emotionality and sociability in children with autism spectrum disorders}}. {Molecular autism}. 2014 Feb 28;5(1):19.
BACKGROUND: Four times as many males are diagnosed with high functioning autism compared to females. A growing body of research that focused on females with autism spectrum disorder (ASD) questions the assumption of gender invariance in ASD. Clinical observations suggest that females with ASD superficially demonstrate better social and emotional skills than males with ASD, which may camouflage other diagnostic features. This may explain the under-diagnosis of females with ASD. METHODS: We hypothesised that females with ASD would display better social skills than males with ASD on a test of friendship and social function. One hundred and one 10- to 16-year-olds (ASD females, n = 25; typically developing (TD) females, n = 25; ASD males, n = 25; TD males, n = 26) were interviewed (using the friendship questionnaire (FQ)) with high scores indicating the child has close, empathetic and supportive relationships. One parent of each child completed the FQ to assess whether there are differences in perception of friendships between parents and children. RESULTS: It was found that, independent of diagnosis, females demonstrated higher scores on the FQ than males. Further, regardless of gender, children with ASD demonstrated lower scores than TD children. Moreover, the effect of ASD was independent of gender. Interestingly, females with ASD and TD males displayed similar scores on the FQ. CONCLUSIONS: This finding is supported by clinical reports that females with ASD have more developed social skills than males with ASD. Further research is now required to examine the underlying causes for this phenomenon in order to develop gender-appropriate diagnostic criteria and interventions for ASD.
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7. Hoefman R, Payakachat N, van Exel J, Kuhlthau K, Kovacs E, Pyne J, Tilford JM. {{Caring for a Child with Autism Spectrum Disorder and Parents’ Quality of Life: Application of the CarerQol}}. {J Autism Dev Disord}. 2014 Feb 28.
This study describes the impact of caregiving on parents of children with autism spectrum disorders (ASDs). Secondly, we investigate construct validation of the care-related quality of life instrument (CarerQol) measuring impact of caregiving. Primary caregivers of children with ASDs were included. Many parents experienced considerable problems combining daily activities with care, had financial problems or suffered from depressive mood. Validity tests showed that a higher impact of caring on the CarerQol was positively associated with higher subjective burden and lower family quality of life. Most of the associations between CarerQol scores and background characteristics confirmed previous research. The CarerQol validly measures the impact of caregiving for children with ASDs on caregivers in our sample. The CarerQol may therefore be useful for including parent outcomes in research on ASDs.
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8. Iarocci G, Armstrong K. {{Age-Related Changes in Conjunctive Visual Search in Children with and without ASD}}. {Autism research : official journal of the International Society for Autism Research}. 2014 Feb 20.
Visual-spatial strengths observed among people with autism spectrum disorder (ASD) may be associated with increased efficiency of selective attention mechanisms such as visual search. In a series of studies, researchers examined the visual search of targets that share features with distractors in a visual array and concluded that people with ASD showed enhanced performance on visual search tasks. However, methodological limitations, the small sample sizes, and the lack of developmental analysis have tempered the interpretations of these results. In this study, we specifically addressed age-related changes in visual search. We examined conjunctive visual search in groups of children with (n = 34) and without ASD (n = 35) at 7-9 years of age when visual search performance is beginning to improve, and later, at 10-12 years, when performance has improved. The results were consistent with previous developmental findings; 10- to 12-year-old children were significantly faster visual searchers than their 7- to 9-year-old counterparts. However, we found no evidence of enhanced search performance among the children with ASD at either the younger or older ages. More research is needed to understand the development of visual search in both children with and without ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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9. King C, Murphy GH. {{A Systematic Review of People with Autism Spectrum Disorder and the Criminal Justice System}}. {J Autism Dev Disord}. 2014 Feb 28.
This paper provides a systemic review of the available literature on people with autism spectrum disorder (ASD) in the criminal justice system (CJS). The review considers two main types of study: those that examined the prevalence of people with ASD in the CJS and those that examined the prevalence of offending in populations with ASD. In addition, types of offences in people with ASD, co-morbid psychiatric diagnoses, and characteristics of people with ASD who commit offences (including predisposing factors) are considered. A combination of search terms was used in a variety of databases in order to find all of the available literature on this topic, and research studies were included based on specified inclusion and exclusion criteria. It was found that whilst there is an emerging literature base on this topic, there are a wide variety of methodologies used, making direct comparison difficult. Nevertheless it can be concluded so far that people with ASD do not seem to be disproportionately over-represented in the CJS, though they commit a range of crimes and seem to have a number of predisposing features. There is poor evidence of the presence of comorbid psychiatric diagnoses (except in mental health settings) amongst offenders with ASD, and little evidence of the oft-asserted over-representation of certain kinds of crimes. It is recommended that further research of good quality is required in this area, rather than studies that examine populations that are not representative of all those with ASD.
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10. Lin IF, Kashino M, Ohta H, Yamada T, Tani M, Watanabe H, Kanai C, Ohno T, Takayama Y, Iwanami A, Kato N. {{The effect of intranasal oxytocin versus placebo treatment on the autonomic responses to human sounds in autism: a single-blind, randomized, placebo-controlled, crossover design study}}. {Molecular autism}. 2014 Feb 28;5(1):20.
BACKGROUND: Many individuals with autism spectrum disorders (ASD) have difficulty with verbal communication, which might be due to a lack of spontaneous orientation toward social auditory stimuli. Previous studies have shown that a single dose of oxytocin improves speech comprehension in autism. The primary aim of this study was to investigate whether the orientation behaviors toward human sounds are different for neurotypical (NT) adults and adults with ASD and whether oxytocin has an effect on their orientation behaviors toward human sounds. METHODS: This was a randomized, placebo-controlled, within-subject, crossover design study of intranasal oxytocin versus placebo in 13 NT adults and 16 adults with ASD. Subjects were randomized to 24 IU intranasal oxytocin or placebo on different days, and they were blind to the treatment. The participants then listened passively to human and non-human affective sounds while their skin conductance responses (SCRs) and the changes in peripheral blood vessel constriction were monitored as an indicator of spontaneous orientation. The monitored data were analyzed by a mixed-design ANOVA. RESULTS: Oxytocin enhanced the difference between the SCRs to human and non-human sounds in both the NT and ASD groups (F(1,56) = 6.046, p = 0.017). Further correlation coefficient analysis showed significant correlations between this SCR difference and the scores in the autism spectrum quotient ‘attention to detail’ and ‘social skill’ subscales and interpersonal reactivity index and social functioning scale in the ASD group. Oxytocin was well tolerated, and no serious adverse effects were reported. CONCLUSIONS: The difference in SCRs implies that oxytocin nasal spray may enhance orientation behaviors toward human sounds in the presence of other environmental sounds in both ASD and NT adults.Trial registration: UMIN-CTR Clinical Trial, Unique trial number: UMIN000005809.
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11. Macpherson K, Charlop MH, Miltenberger CA. {{Using Portable Video Modeling Technology to Increase the Compliment Behaviors of Children with Autism During Athletic Group Play}}. {J Autism Dev Disord}. 2014 Feb 27.
A multiple baseline design across participants was used to examine the effects of a portable video modeling intervention delivered in the natural environment on the verbal compliments and compliment gestures demonstrated by five children with autism. Participants were observed playing kickball with peers and adults. In baseline, participants demonstrated few compliment behaviors. During intervention, an iPad(R) was used to implement the video modeling treatment during the course of the athletic game. Viewing the video rapidly increased the verbal compliments participants gave to peers. Participants also demonstrated more response variation after watching the videos. Some generalization to an untrained activity occurred and compliment gestures also occurred. Results are discussed in terms of contributions to the literature.
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12. Rizvi AA, Margey R. {{PFO and ASD Closure in Adulthood: Where Do We Stand?}}. {Current treatment options in cardiovascular medicine}. 2014 Apr;16(4):295.
OPINION STATEMENT: Ever since the observation was made linking a higher prevalence of a patent foramen ovale (PFO) in younger individuals with cryptogenic stroke (CS), there has been a vigorous debate as to the role the PFO plays and a search for the optimal management strategy to prevent recurrent CS. Data from observational studies from the past two decades have demonstrated the superiority of percutaneous device closure over medical therapy. The recent publication of three randomized controlled trials (RCTs), which failed to demonstrate the superiority of percutaneous closure has reignited the controversy as to how best treat these patients. In this article, we will review the contemporary literature from the past three years including the results from new meta-analyses of medical therapy and device closure. In addition, we will review the three published randomized control trials to date (ie, CLOSURE I, the PC trial, and RESPECT) along with a meta-analysis of their results. While on primary intention-to-treat analysis, the three RCTs failed to demonstrate a superiority of percutaneous PFO closure vs medical therapy, a closer look at the data seems to suggest a trend toward benefit. We come to the conclusion that the issue of optimal treatment of PFO in patients with CS is far from settled and is unlikely to be a « one size fits all » approach due to the heterogeneity of this condition. In our opinion, based on the entirety of available data, both observational and randomized, there is likely a role for percutaneous device closure in select patients with CS in whom a PFO is the likely cause of their first stroke and will remain a significant risk for recurrent neurologic events. The article will go on to review current indications for atrial septal defect (ASD) closure and will highlight safety, efficacy and caveats regarding this technique.
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13. Root NB, Case LK, Burrus CJ, Ramachandran VS. {{External self-representations improve self-awareness in a child with autism}}. {Neurocase}. 2014 Feb 26.
We have previously suggested that the social symptoms of autism spectrum disorder (ASD) could be caused in part by a dysfunctional mirror neuron system (MNS). Since the recursive activity of a functioning MNS might enable the brain to integrate visual and motor sensations into a coherent body schema, the deficits in self-awareness often seen in ASD might be caused by the same mirror neuron dysfunction. CL is an autistic adolescent who is profoundly fascinated with his reflection, looking in mirrors at every opportunity. We demonstrate that CL’s abnormal gait improves significantly when using a mirror for visual feedback. We also show that both the fascination and the happiness that CL derives from looking at a computer-generated reflection diminish when a delay is introduced between the camera input and screen output. We believe that immediate, real-time visual feedback allows CL to integrate motor sensations with external visual ones into a coherent body schema that he cannot internally generate, perhaps due to a dysfunctional MNS.
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14. Verhoeff B. {{Autism in flux: a history of the concept from Leo Kanner to DSM-5}}. {History of psychiatry}. 2013 Dec;24(4):442-58.
In this paper, I argue that a new relation between past and present – a supposed historical continuity in the meaning of autism – is created by the histories written by the discipline itself. In histories of autism written by ‘practitioner-historians’, a sense of scientific progress and an essentialist understanding of autism legitimize and reinforce current understandings and research directions in the field of autism. Conceptual discontinuities and earlier complexities and disputes concerning classifying and delineating autism are usually left out of the positivist narrative of autism. In an alternative history of the concept of autism, I demonstrate that there have been major shifts in the type of symptoms, signs and impairments that were – and are – thought to be essential and specific for autism.
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15. Yuan H, Dougherty JD. {{Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association}}. {Autism research : official journal of the International Society for Autism Research}. 2014 Feb 25.
Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings. In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n = 1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n = 2732). We did not identify any SNP that reached genome-wide significance (P < 10-8 ), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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16. Zainal H, Magiati I, Tan JW, Sung M, Fung DS, Howlin P. {{A Preliminary Investigation of the Spence Children’s Anxiety Parent Scale as a Screening Tool for Anxiety in Young People with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Feb 27.
Despite high rates of clinically elevated anxiety difficulties in children and adolescents with autism spectrum disorders (ASDs), very few studies have systematically examined the usefulness of commonly used caregiver report anxiety screening tools with this population. This study investigated the use of the Spence Children’s Anxiety Scale-Parent version (SCAS-P) as a screening tool for anxiety disorders when compared to a standardized DSM-IV-TR-based clinical interview, the Kiddie-Schedule for Schizophrenia and Affective Disorders-Present and Lifetime version (K-SADS-PL). Thirty-two caregivers of youth with a clinical diagnosis of ASD (mean age 10.3 years) attending a specialist autism school participated in this study. They first completed the SCAS-P, a measure of adaptive functioning and a checklist of other emotional and behavioral difficulties. They were then interviewed with the K-SADS-PL. Internal consistency for the SCAS Total score was .88, but Cronbach’s alphas were <.70 in three of the six SCAS-P subscales. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the SCAS-P against K-SADS diagnosis were .75, .71, .27, and .95, respectively. All values were >.70, except for the PPV. Evidence of convergent validity between the SCAS-P, K-SADS-PL and DBC anxiety subscale was also found. The high false positive rates notwithstanding, the preliminary data of acceptable to excellent sensitivity, specificity and NPV values tentatively suggest that the SCAS-P may be useful for screening non-help seeking young people with ASD for elevated anxiety symptoms. Further replication in larger studies is needed and ways in which the SCAS-P could be further developed and investigated for use with youth with ASD are discussed.
