1. Brady N, Warren SF, Fleming K, Keller J, Sterling A. {{The effect of sustained maternal responsivity on later vocabulary development in children with Fragile X Syndrome}}. {Journal of speech, language, and hearing research : JSLHR}. 2013 Sep 10.
PURPOSE: The research question addressed was whether sustained maternal responsivity (a parent-child interaction style characterized by warmth, nurturance and stability as well as specific behaviors such as contingent positive responses to child initiations) was a significant variable predicting vocabulary development of children with FXS through age 9 years. METHOD: Fifty-five mother-child dyads were followed longitudinally when children were between 2 and 10 years of age. Measures of maternal responsivity and child vocabulary were obtained at regular intervals starting at age 2.9 years. Sustained responsivity was indicated by the average responsivity measured over observations 2-5. Responsivity at the first time period, autism symptoms, and cognitive development were used as control variables. RESULTS: After controlling for development and autism symptoms, we found significant effects for sustained responsivity on receptive vocabulary, expressive vocabulary, and the rate of different words children produced through age 9. CONCLUSIONS: Maternal responsivity, which is typically a variable of interest during early childhood, continues to be a significant variable, predicting vocabulary development through the middle childhood period. Thus, responsivity is a potential target for language interventions through this age period.
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2. Corman MK. {{How Mothers Talk About Placement of Their Child With Autism Outside the Home}}. {Qualitative health research}. 2013 Sep 10.
In this article I use insights offered by the poststructural shift and linguistic turn in social scientific inquiry, specifically discourse analysis, to explore mothers’ talk about the placement of their child with autism outside of the home. By viewing mothers’ talk as data, I bring to light the discourses and interpretive practices that mothers drew on to organize their talk of placement. In doing so, I provide insights into how mothers gave meaning to processes of placement while also expanding on commonsensical discursive notions of « good » mothering, caregiving, and family. Implications of the findings are discussed.
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3. Custance DM, Mayer JL, Kumar E, Hill E, Heaton PF. {{Do Children With Autism Re-Enact Object Movements Rather Than Imitate Demonstrator Actions?}}. {Autism research : official journal of the International Society for Autism Research}. 2013 Sep 10.
It has been suggested that autism-specific imitative deficits may be reduced or even spared in object-related activities. However, most previous research has not sufficiently distinguished object movement reenactment (learning about the ways in which object move) from imitation (learning about the topography of demonstrated actions). Twenty children with autism (CWA) and 20 typically developing children (TDC) were presented with puzzle boxes containing prizes. Test objects and experimental conditions were designed to isolate object- and action-related aspects of demonstrations. There were four types of video demonstrations: (a) a full demonstration by an adult; (b) a ghost demonstration with object movements alone; (c) mimed solutions demonstrated adjacent to the objects; and (d) random actions performed on the surface of the objects. There were no significant between-group differences in the degree to which CWA and TDC matched the full demonstrations, the actual demonstrations or in their times to first solution in any of the conditions. Although there was no clear imitative deficit in the CWA, regression analyses were conducted to explore in more detail whether diagnosis, verbal intelligence quotient (VIQ), nonverbal IQ NVIQ, age or motor coordination predicted performance. The results are discussed in relation to the use of extrinsic vs. intrinsic rewards and the interplay between motor coordination and the relative rigidity vs. pliability of objects. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Davidson MM, Ellis Weismer S. {{Characterization and Prediction of Early Reading Abilities in Children on the Autism Spectrum}}. {J Autism Dev Disord}. 2013 Sep 11.
Many children with autism spectrum disorder (ASD) have reading profiles characterized by higher decoding skills and lower reading comprehension. This study assessed whether this profile was apparent in young children with ASD and examined concurrent and longitudinal predictors of early reading. A discrepant profile of reading (higher alphabet and lower meaning) was found in 62 % of this sample. Concurrent analyses revealed that reading proficiency was associated with higher nonverbal cognition and expressive language, and that social ability was negatively related to alphabet knowledge. Nonverbal cognition and expressive language at mean age 2(1/2) years predicted later reading performance at mean age 5(1/2) years. These results support the importance of early language skills as a foundation for reading in children with ASD.
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5. Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. {{Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis}}. {Journal of medical genetics}. 2013 Sep 12.
BACKGROUND: The heritability of autism spectrum disorder is currently estimated at 55%. Identification of the molecular basis of patients with syndromic autism extends our understanding of the pathogenesis of autism in general. The objective of this study was to find the gene mutated in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy. METHODS AND RESULTS: By linkage analysis and exome sequencing, we identified deleterious mutations in SLC35A3 in these patients. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) transporter. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar was significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms. CONCLUSIONS: Spontaneous mutation in SLC35A3 has been discovered in cattle worldwide, recapitulating the human phenotype with arthrogryposis and additional skeletal defects known as Complex Vertebral Malformation syndrome. The skeletal anomalies in the mutant cattle and in our patients, and perhaps even the neurological symptoms are likely the consequence of the lack of high-branched N-glycans and the concomitant abundance of lower-branched glycoforms at the cell surface. This pattern has previously been associated with growth arrest and induction of differentiation. With this study, we add SLC35A3 to the gene list of autism spectrum disorders, and underscore the crucial importance of UDP-GlcNAc in the regulation of the N-glycan branching pathway in the Golgi apparatus.
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6. Ganz JB, Heath AK, Davis JL, Vannest KJ. {{Effects of a self-monitoring device on socially relevant behaviors in adolescents with Asperger disorder: a pilot study}}. {Assistive technology : the official journal of RESNA}. 2013 Fall;25(3):149-57.
This article reports the results of two case studies. Two middle school-aged participants with high-functioning autism spectrum disorders were taught to self-monitor behaviors impacting their social acceptance by peers in their general education settings: oral self-stimulatory behaviors and conversation skills. Results indicate that the intervention was effective to some degree with both participants. As a result of the self-monitoring intervention, one participant decreased self-stimulatory behaviors; however, his data were highly variable throughout the study though lower on average during intervention than in baseline. The other participant’s targeted skills in communication were only slightly improved. Self-monitoring using a vibrating reminder appears to be a low-cost intervention with high levels of social acceptability, low training requirements for teachers or students, and no social stigma.
7. Hattier MA, Matson JL, Macmillan K, Williams L. {{Stereotyped behaviours in children with autism spectrum disorders and atypical development as measured by the BPI-01}}. {Developmental neurorehabilitation}. 2013 Oct;16(5):291-300.
Objective: As repetitive behaviours in children with autism spectrum disorders (ASDs) can significantly interfere with one’s daily functioning, continued research on these behaviours is needed. Methods: This study examined the occurrence of repetitive motor movements in toddlers (17-37 months) with ASD and atypical development and the relationship between stereotypies and sensory impairment. Results: Children with ASD (n = 13) exhibited significantly more repetitive behaviours than the non-ASD group (n = 12). Greater percentages of endorsement were evident for the ASD group on nearly all items of the Behaviour Problems Inventory-01 (BPI-01) Stereotypy subscale. More repetitive behaviours tended to co-occur with other stereotypies for the ASD group. A moderate correlation was found between stereotypy severity and sensory deficits. Conclusion: These findings suggest that stereotyped behaviours can be identified at very young ages, negatively affect the behavioural presentation of those with ASDs and should be considered when developing treatment plans.
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8. Louwerse A, Tulen JH, van der Geest JN, van der Ende J, Verhulst FC, Greaves-Lord K. {{Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2013 Sep 10.
It remains unclear why individuals with autism spectrum disorder (ASD) tend to respond in an atypical manner in social situations. Investigating autonomic and subjective responses to social vs. nonsocial stimuli may help to reveal underlying mechanisms of these atypical responses. This study examined autonomic responses (skin conductance level and heart rate) and subjective responses to social vs. nonsocial pictures in 37 adolescents with an ASD and 36 typically developing (TD) adolescents. Thirty-six pictures from the International Affective Picture System were presented, divided into six categories based on social content (social vs. nonsocial) and pleasantness (pleasant, neutral, and unpleasant). Both in adolescents with ASD as well as TD adolescents, pictures with a social content resulted in higher skin conductance responses (SCRs) for pleasant and unpleasant pictures than for neutral pictures. No differences in SCRs were found for the three nonsocial picture categories. Unpleasant pictures, both with and without a social content, showed more heart rate deceleration than neutral pictures. Self-reported arousal ratings were influenced by the social and affective content of a picture. No differences were found between individuals with ASD and TD individuals in their autonomic and subjective responses to the picture categories. These results suggest that adolescents with ASD do not show atypical autonomic or subjective responses to pictures with and without a social content. These findings make it less likely that impairments in social information processing in individuals with ASD can be explained by atypical autonomic responses to social stimuli. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S. {{Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population}}. {BMJ open}. 2013;3(9):e003660.
INTRODUCTION: Fragile X syndrome (FXS) is the leading cause of inherited intellectual and developmental disability. Policy development relating to carrier screening programmes for FXS requires input from large studies examining not only test uptake but also psychosocial aspects. This study will compare carrier screening in pregnant and non-pregnant populations, examining informed decision-making, psychosocial issues and health economics. METHODS AND ANALYSIS: Pregnant and non-pregnant women are being recruited from general practices and obstetric services. Women receive study information either in person or through clinic mail outs. Women are provided pretest counselling by a genetic counsellor and make a decision about testing in their own time. Data are being collected from two questionnaires: one completed at the time of making the decision about testing and the second 1 month later. Additional data are gathered through qualitative interviews conducted at several time points with a subset of participating women, including all women with a positive test result, and with staff from recruiting clinics. A minimum sample size of 500 women/group has been calculated to give us 88% power to detect a 10% difference in test uptake and 87% power to detect a 10% difference in informed choice between the pregnant and non-pregnant groups. Questionnaire data will be analysed using descriptive statistics and multivariate logistic regression models. Interview data will be thematically analysed. Willingness-to-pay and cost effectiveness analyses will also be performed. Recruitment started in July 2009 and data collection will be completed by December 2013. ETHICS AND DISSEMINATION: Ethics approval has been granted by the Universities of Melbourne and Western Australia and by recruiting clinics, where required. Results will be reported in peer-reviewed publications, conference presentations and through a website http://www.fragilexscreening.net.au. The results of this study will make a significant contribution to discussions about the wider introduction of population carrier screening for FXS.
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10. Mire SS, Nowell KP, Kubiszyn T, Goin-Kochel RP. {{Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related?}}. {Autism}. 2013 Sep 12.
Psychotropic medication use and its relationship to autism spectrum core features were examined in a well-characterized but nonstratified North American sample (N = 1605) of children/adolescents diagnosed with autism spectrum disorders utilizing the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, from the multisite Simons Simplex Collection. Analyses included (a) prevalence of psychotropic use (overall, and by classes), (b) correlations between prevalence of use and autism spectrum core features, age, and cognitive functioning, and (c) logistic regression to identify whether these factors were predictive of psychotropic use. Results indicated 41.7% ever used one or more classes of psychotropic medications, with attention deficit hyperactivity disorder medications used most. Small but significant correlations between psychotropic medication use and (a) social impairment (p < .001) and (b) repetitive behaviors (p < .001) were found. Overall, however, autism spectrum disorder core features are weakly related to medication use. Older children used more psychotropics (p < .001), and higher cognitive functioning was associated with less overall psychotropic use (p < .001). Logistic regression indicated that use of psychotropics was predicted by repetitive behaviors (both clinician-observed and parent-reported), age, and cognitive ability level. Limitations inherent to the Simons Simplex Collection sample, methodology, and the correlational analyses are discussed. Directions for future research include investigation of factors more influential than core symptoms on psychotropic treatment (e.g. parent perceptions, comorbid symptoms).
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11. Rossi CC, Fuentes J, Van de Water J, Amaral DG. {{Brief Report: Antibodies Reacting to Brain Tissue in Basque Spanish Children with Autism Spectrum Disorder and Their Mothers}}. {J Autism Dev Disord}. 2013 Sep 11.
Previous investigations found that a subset of children with autism spectrum disorder (ASD) in California possessed plasma autoantibodies that reacted intensely with brain interneurons or other neural profiles. Moreover, for several cohorts of American women, maternal autoantibody reactivity to specific fetal brain proteins was highly specific to mothers of children with ASD. We sought to determine whether children and their mothers from a regionally specific cohort from the Basque Country of Spain demonstrated similar reactivity. Some children’s plasma reacted to interneurons, beaded axons or other neural profiles with no difference in the occurrence of these antibodies in children with or without ASD. Findings on the maternal antibodies confirmed previous research; plasma reactivity to fetal brain a combination of proteins at 37 and 73 kDa or 39 and 73 kDa was found exclusively in mothers of children with ASD.
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12. Santa Maria L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Morales GM, Hagerman R, Tassone F. {{Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile}}. {Clinical genetics}. 2013 Sep 12.
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated FM. Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.
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13. Somogyi E, Kiraly I, Gergely G, Nadel J. {{Understanding goals and intentions in low-functioning autism}}. {Research in developmental disabilities}. 2013 Sep 6;34(11):3822-32.
We investigated ability to understand goals and attribute intentions in the context of two imitation studies in low-functioning, nonverbal children with autism (L-F CWA), a population that is rarely targeted by research in the domain. Down syndrome children (DSC) and typically developing children (TDC) were recruited to form matched comparison groups. In the two sets of simple action demonstrations only contextual indicators of the model’s intentions were manipulated. In the Head touch experiment the model activated a button on a toy by pushing it with the forehead, whereas in the Hidden box experiment the model used a ball with a magnet to lift a box out of its container. Both actions were unusual and non-affordant with regards to the objects involved, none of the children in the baseline condition produced them. L-F CWA imitated the experimenter exactly, regardless of the model’s intention. TDC showed appreciation of the model’s intention by imitating her actions selectively. DSC reproduced only the intentional action as often as they imitated the experimenter exactly. It is concluded that L-F CWA attributed goals to the observed model, but did not show an appreciation of the model’s intentions even in these simplified, nonverbal contexts.
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14. Woods AG, Mahdavi E, Ryan JP. {{Treating clients with Asperger’s syndrome and autism}}. {Child and adolescent psychiatry and mental health}. 2013 Sep 11;7(1):32.
Asperger’s syndrome (AS) is a form of autism spectrum disorder (ASD) affecting many individuals today. Although neurobiological correlates for AS have been identified, like many ASDs, AS is not completely understood. AS as a distinct disorder is also not universally accepted and in the DSM-5 AS is not considered a separate nosological entity. In contrast to some other ASDs, individuals with AS are commonly characterized by having standard or higher than average intelligence, yet difficulties in social skills and communication can present challenges for these individuals in everyday functioning. Counseling a person with AS or autism presents a unique challenge for the mental health care provider. We have compiled this review consisting of some recent ideas regarding counseling the client with AS with the goal of providing some clinical insights and practical clues. Although the focus of the present paper is largely on AS, many of these strategies could also apply to individuals with high-functioning autism (HFA).
