1. Ausderau KK, Sideris J, Little LM, Furlong M, Bulluck JC, Baranek GT. {{Sensory subtypes and associated outcomes in children with autism spectrum disorders}}. {Autism Res}. 2016.
Sensory features are prevalent and heterogeneous across children with ASD and these features have been associated with child outcomes. Identification of clinically defined sensory subtypes may enhance our understanding of unique phenotypes that have implications for etiology, prognosis, and intervention. This longitudinal study used a national online survey aimed to identify associations of previously validated sensory subtypes to specific child and family characteristics and functional outcomes [vineland adaptive behavior scale-II (VABS) and parenting stress index short form (PSI)]. The sensory experiences questionnaire-3.0 was collected from caregivers with children with ASD, ages 2-12, at two time points (Time 1, n = 1307, Time 2, n = 884), 1 year apart. Functional outcomes assessments were collected at the second time point. A latent profile transition analysis (LPTA) was used to test associations, and results indicated that the attenuated-preoccupied subtype presented with the significantly lowest levels of VABS adaptive behavior composite scores compared to the other three sensory subtypes. Both the VABS maladaptive behavior index and the total PSI score were significantly highest in the extreme-mixed subtype. These results underscore the clinical utility of this subtyping approach for differentiating characteristics and functional outcomes associated with clinically defined sensory phenotypes. These findings may have implications for better understanding etiology, prognosis, and more precise targets for interventions designed to ameliorate sensory difficulties, and ultimately mitigate negative developmental consequences and parenting stress. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Brewer N, Zoanetti J, Young RL. {{The influence of media suggestions about links between criminality and autism spectrum disorder}}. {Autism}. 2016.
We examined whether media reports linking criminal behaviour and autism spectrum disorder foster negative attitudes towards individuals with autism spectrum disorder. In a between-subjects design, participants were exposed to (a) a media story in which a murderer was labelled with autism spectrum disorder (media exposure condition) or not labelled with any disorder (control) and (b) an autism spectrum disorder-education condition attacking the myth that people diagnosed with autism spectrum disorder are likely to be violent criminals or a no-autism spectrum disorder-education condition. Participants attitudes towards three different crime perpetrators (one with autism spectrum disorder) described in separate vignettes were probed. The media exposure linking crime and autism spectrum disorder promoted more negative attitudes towards individuals with autism spectrum disorder, whereas the positive autism spectrum disorder-related educational message had the opposite effect.
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3. Cascia J, Barr JJ. {{Associations Among Vocabulary, Executive Function Skills and Empathy in Individuals with Autism Spectrum Disorder}}. {J Appl Res Intellect Disabil}. 2016.
BACKGROUND: Individuals with autism spectrum disorder (ASD) have been characterized as having deficits in social communication and empathy which present difficulties in the areas of social reciprocity, sharing of emotions and developing and maintaining relationships. This study explores the associations between vocabulary, executive function skills and empathy in individuals with ASD. METHOD: A survey study with a purposive sample was used. Twenty adolescents with ASD completed receptive and expressive vocabulary assessments while their parent and teacher completed executive function and empathy scales. RESULTS: Results indicated that higher vocabulary and executive function skills were associated with higher empathy. Nonparametric analyses also showed that executive function mediated the association between empathy and vocabulary. Differences between parent and teacher responses were also explored. CONCLUSIONS: The results suggest that targeting vocabulary and executive function skills prior to, or in conjunction with, social skills in educational and therapeutic settings may prove beneficial.
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4. Dow D, Guthrie W, Stronach ST, Wetherby AM. {{Psychometric analysis of the Systematic Observation of Red Flags for autism spectrum disorder in toddlers}}. {Autism}. 2016.
The purpose of this study was to examine the utility of the Systematic Observation of Red Flags as an observational level-two screening measure to detect risk for autism spectrum disorder in toddlers when used with a video-recorded administration of the Communication and Symbolic Behavior Scales. Psychometric properties of the Systematic Observation of Red Flags were examined in a sample of 247 toddlers of 16- to 24 months old: 130 with autism spectrum disorder, 61 with developmental delays, and 56 typically developing. Individual items were examined for performance to create an algorithm with improved sensitivity and specificity, yielding a total Composite score and Domain scores for Social Communication and Restricted Repetitive Behaviors. Codes indicating clear symptom presence were collapsed to yield a count of the number of Red Flags for the overall scale and each symptom domain. Results indicated significant group differences with large effects for the Composite, both Domain scores, and Red Flags score, and good discrimination (area under the curve = 0.84-0.87) between autism spectrum disorder and nonspectrum groups for the Composite, Social Communication Domain, and Social Communication Red Flags score. The Systematic Observation of Red Flags provides an observational screening measure for 16- to 24-month-olds with good discrimination, sensitivity, and specificity. A cutoff of 20 on the Composite is recommended to optimally detect autism spectrum disorder risk.
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5. Feinberg E, Abufhele M, Sandler J, Augustyn M, Cabral H, Chen N, Diaz Linhart Y, Cesar Levesque Z, Aebi M, Silverstein M. {{Reducing Disparities in Timely Autism Diagnosis Through Family Navigation: Results From a Randomized Pilot Trial}}. {Psychiatr Serv}. 2016: appips201500162.
OBJECTIVE: Emerging evidence suggests that autism spectrum disorder (ASD) can be diagnosed by age 18 months and that early intensive behavioral intervention positively affects ASD core deficits. This pilot randomized controlled trial examined the feasibility of using an adapted form of patient navigation, Family Navigation (FN), to improve timely diagnosis of ASD in low-income families from racial-ethnic minority groups. METHODS: Forty children referred for an ASD diagnostic assessment were randomly allocated to receive FN or usual care. The primary outcome, time to diagnostic resolution, was assessed with survival analysis. RESULTS: Nineteen of 20 FN children completed the diagnostic assessment, compared with 11 of 19 children receiving usual care (hazard ratio=3.21, 95% confidence interval=1.47-6.98, p<.01). In regard to engagement of participants, 17 of 20 families (85%) met with the navigator for the targeted three in-person visits (median=4, range 1-9). CONCLUSIONS: FN may be a promising intervention to address barriers that impede timely ASD diagnosis. Lien vers le texte intégral (Open Access ou abonnement)
6. Forgeot d’Arc B, Delorme R, Zalla T, Lefebvre A, Amsellem F, Moukawane S, Letellier L, Leboyer M, Mouren MC, Ramus F. {{Gaze direction detection in autism spectrum disorder}}. {Autism}. 2016.
Detecting where our partners direct their gaze is an important aspect of social interaction. An atypical gaze processing has been reported in autism. However, it remains controversial whether children and adults with autism spectrum disorder interpret indirect gaze direction with typical accuracy. This study investigated whether the detection of gaze direction toward an object is less accurate in autism spectrum disorder. Individuals with autism spectrum disorder (n = 33) and intelligence quotients-matched and age-matched controls (n = 38) were asked to watch a series of synthetic faces looking at objects, and decide which of two objects was looked at. The angle formed by the two possible targets and the face varied following an adaptive procedure, in order to determine individual thresholds. We found that gaze direction detection was less accurate in autism spectrum disorder than in control participants. Our results suggest that the precision of gaze following may be one of the altered processes underlying social interaction difficulties in autism spectrum disorder.
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7. Ghilain CS, Parlade MV, McBee MT, Coman DC, Owen T, Gutierrez A, Boyd B, Odom S, Alessandri M. {{Validation of the Pictorial Infant Communication Scale for preschool-aged children with autism spectrum disorder}}. {Autism}. 2016.
Joint attention, or the shared focus of attention between objects or events and a social partner, is a crucial milestone in the development of social communication and a notable area of deficit in children with autism spectrum disorder. While valid parent-report screening measures of social communication are available, the majority of these measures are designed to assess a wide range of behaviors. Targeted assessment of joint attention and related skills is primarily limited to semi-structured, examiner-led interactions, which are time-consuming and laborious to score. The Pictorial Infant Communication Scale is an efficient parent-report measure of joint attention that can be used as a complement to structured assessments in fully characterizing early social communication development. This study examined the psychometric properties of the Pictorial Infant Communication Scale. Results revealed a high degree of internal consistency and strong intercorrelations between subscales. Additionally, confirmatory factor analysis supported a three-factor model of joint attention. Furthermore, significant correlations between the Pictorial Infant Communication Scale and direct clinical measures of child joint attention, language skills, and autism spectrum disorder symptom severity were suggestive of concurrent validity. Findings suggest that the Pictorial Infant Communication Scale is a promising tool for measuring joint attention skills in preschool-aged children with autism spectrum disorder.
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8. Guan J, Yang E, Yang J, Zeng Y, Ji G, Cai JJ. {{Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis}}. {Hum Genet}. 2016.
Autism spectrum disorder (ASD) is characterized by substantial phenotypic and genetic heterogeneity, which greatly complicates the identification of genetic factors that contribute to the disease. Study designs have mainly focused on group differences between cases and controls. The problem is that, by their nature, group difference-based methods (e.g., differential expression analysis) blur or collapse the heterogeneity within groups. By ignoring genes with variable within-group expression, an important axis of genetic heterogeneity contributing to expression variability among affected individuals has been overlooked. To this end, we develop a new gene expression analysis method-aberrant gene expression analysis, based on the multivariate distance commonly used for outlier detection. Our method detects the discrepancies in gene expression dispersion between groups and identifies genes with significantly different expression variability. Using this new method, we re-visited RNA sequencing data generated from post-mortem brain tissues of 47 ASD and 57 control samples. We identified 54 functional gene sets whose expression dispersion in ASD samples is more pronounced than that in controls, as well as 76 co-expression modules present in controls but absent in ASD samples due to ASD-specific aberrant gene expression. We also exploited aberrantly expressed genes as biomarkers for ASD diagnosis. With a whole blood expression data set, we identified three aberrantly expressed gene sets whose expression levels serve as discriminating variables achieving >70 % classification accuracy. In summary, our method represents a novel discovery and diagnostic strategy for ASD. Our findings may help open an expression variability-centered research avenue for other genetically heterogeneous disorders.
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9. Ijalba E. {{Hispanic Immigrant Mothers of Young Children With Autism Spectrum Disorders: How Do They Understand and Cope With Autism?}}. {Am J Speech Lang Pathol}. 2016: 1-14.
Purpose: This study aimed to understand the experiences of raising a child with autism spectrum disorders (ASD) in a group of Hispanic immigrant mothers. The following 3 aspects were explored: (a) the families’ social environments, (b) cultural beliefs on development and autism, and (c) perceptions of bilingualism influencing language choices. Method: In-depth 3-part phenomenological interviews and thematic analyses were conducted with 22 Hispanic immigrant mothers of preschool children with ASD. Results: A total of 3 thematic categories emerged: stigmatization and social isolation, preconceptions about developmental milestones and autism, and mothers’ reluctance to speak Spanish with their children. A lack of awareness about autism influenced social isolation, and autism was viewed as temporary and associated with fear or sadness. The mothers believed that exposure to 2 languages would increase their children’s language difficulties. Conclusions: Hispanic immigrant mothers raising children with autism were often challenged by immigration status, economic hardship, and advice against using Spanish with their children. Professional training and parent education are needed to facilitate early identification of ASD. Immigrant families should be encouraged to communicate in the home language with their children. Information about ASD should be disseminated through community outreach, home-school connections, and pediatricians, who remain pivotal in informing Hispanic immigrant families.
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10. Kitazoe N, Fujita N, Izumoto Y, Terada SI, Hatakenaka Y. {{Whether the Autism Spectrum Quotient consists of two different subgroups? Cluster analysis of the Autism Spectrum Quotient in general population}}. {Autism}. 2016.
The purpose of this study was to investigate whether the individuals in the general population with high scores on the Autism Spectrum Quotient constituted a single homogeneous group or not. A cohort of university students (n = 4901) was investigated by cluster analysis based on the original five subscales of the Autism Spectrum Quotient. Based on the results of the analysis, the students could be divided into six clusters: the first with low scores on all the five subscales, the second with high scores on only the ‘attention to detail’ subscale, the third and fourth with intermediate scores on all the subscales, the fifth with high scores on four of the five subscales but low scores on the ‘attention to detail’ subscale and the sixth with high scores on all the five subscales. The students with high total Autism Spectrum Quotient scores (n = 166) were divided into two groups: one with high scores on four subscales but low scores on the ‘attention to detail’ subscale and the other with high scores on all the five subscales. The results of this study suggested that individuals from the general population with high Autism Spectrum Quotient scores may consist of two qualitatively different groups.
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11. Krajnc N, Zidar J. {{The role of transcranial magnetic stimulation in evaluation of motor cortex excitability in Rett syndrome}}. {Eur J Paediatr Neurol}. 2016.
Rett syndrome (RTT) is a frequent neurodevelopmental disorder confirmed by clinical criteria and supported by the methyl-CpG-binding protein 2 gene (MECP2) mutation. A short central motor conduction time (CMCT) was reported in transcranial magnetic stimulation (TMS) studies performed in RTT. This was attributed to hyperexcitability of the motor cortex and/or spinal motor neurons, but was not studied further. AIM: We performed TMS in RTT to evaluate motor cortex excitability by determining the cortical motor threshold (CMT) and motor cortex inhibition by the cortical silent period (CSP) besides measuring CMCT. METHODS: Single-pulse TMS was performed in 17 Rett patients, diagnosed by clinical criteria and MECP2 mutation testing, and the same number of healthy controls. The outcome measures were compared between RTT groups with different antiepileptic drugs (AED) and those with and without the MECP2 mutation. RESULTS: CMCT was shorter, but we found elevated CMT and shorter CSP, which suggests decreased excitatory and inhibitory motor cortical function. The outcome was independent of AED and the presence or absence of the MECP2 mutation. INTERPRETATION: Decreased excitatory and inhibitory motor cortical function could explain the short CMCT, with higher stimulus intensities needed to excite pyramidal neurons.
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12. Levy SE, Frasso R, Colantonio S, Reed H, Stein G, Barg FK, Mandell D, Fiks AG. {{Shared Decision Making and Treatment Decisions for Young Children with Autism Spectrum Disorder}}. {Acad Pediatr}. 2016.
OBJECTIVE: To describe influences on shared decision making (SDM) between primary care pediatricians and parents of young children with autism spectrum disorder (ASD). METHODS: We conducted a qualitative study using key informant interviews with 20 pediatricians of varying experience from 10 primary care practices and 20 English speaking parents of young children (ages 2-5 years) with a parent reported diagnosis of ASD. Subjects were recruited through purposive sampling. Interviews were audio taped, transcribed verbatim and analyzed using an integrated approach to data analysis. Differences in coding were resolved by consensus. We achieved thematic saturation and ceased recruitment after 20 interviews were completed within each group. RESULTS: Three primary themes emerged: 1) pediatricians and parents reported knowledge gaps by pediatricians about ASD treatments and community resources and ambiguity regarding the pediatrician’s role in ASD care; 2) there was little communication between parents and pediatricians about treatment choices; 3) use of CAM treatments created conflict between pediatricians and parents and, as a result, parents may independently pursue treatments, without benefit of discussing safety and efficacy with pediatricians. Despite these barriers, parents desired increased support and guidance from their pediatricians, including for CAM. CONCLUSIONS: Much work is needed to effectively foster SDM in the context of ASD treatment decisions in primary care, including pediatrician training in ASD to enhance knowledge about evidence-based and novel treatments, clinical practice guidelines and community resources.
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13. Mari-Bauset S, Llopis-Gonzalez A, Zazpe I, Mari-Sanchis A, Morales Suarez-Varela M. {{Comparison of nutritional status between children with autism spectrum disorder and typically developing children in the Mediterranean Region (Valencia, Spain)}}. {Autism}. 2016.
This case-control study investigated nutrient intake, healthy eating index with 10 items on foods and nutrients, on 3-day food diaries and anthropometric measurements in 105 children with autism spectrum disorder and 495 typically developing children (6-9 years) in Valencia (Spain). Children with autism spectrum disorder were at a higher risk for underweight, eating more legumes, vegetables, fiber, and some micronutrients (traditional Mediterranean diet) but fewer dairy and cereal products, and less iodine, sodium, and calcium than their typically developing peers. Differences existed in total energy intake but healthy eating index and food variety score differences were not significant. Autism spectrum disorder group failed to meet dietary recommendations for thiamin, riboflavin, vitamin C, or calcium. Risk of inadequate intake of fiber, vitamin E, and sodium was lower in children with autism spectrum disorder than typically developing children. Results suggest that (1) risk of inadequate intake of some micronutrients in children with autism spectrum disorder and (2) cultural patterns and environment may influence food intake and anthropometric characteristics in autism spectrum disorder. Primary care should include anthropometric and nutritional surveillance in this population to identify intervention on a case-by-case basis. Future research should explore dietary patterns and anthropometric characteristics in different autism spectrum disorder populations in other countries, enhancing our understanding of the disorder’s impact.
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14. Michael C. {{Why we need research about autism and ageing}}. {Autism}. 2016.
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15. Saad AF, Alshehri W, Lei J, Kechichian TB, Gamble P, Alhejaily N, Shabi Y, Saade GR, Costantine MM, Burd I. {{Maternal Fructose Consumption Disrupts Brain Development of Offspring in a Murine Model of Autism Spectrum Disorder}}. {Am J Perinatol}. 2016.
Objective The objective of this study was to localize by neuroimaging the altered structural brain development of these offspring using an autism model of transgenic mice lacking contactin-associated protein-like 2 (Cntnap2). Materials and Methods Pregnant dams were randomly allocated to fructose solution (10% W/V) as only drinking fluid or water. Cntnap2 heterozygous (+/-) offspring from each group were euthanized at 6 months of age and their whole brains evaluated by magnetic resonance imaging. T2-weighted images were acquired to evaluate the volumes of 29 regions of interest involved in autism spectrum disorder (ASD) pathogenesis. Whole brains were washed and processed for Nissl staining. Mann-Whitney U test and one-way analysis of variance were used for statistical analysis (significance: p < 0.05). Results The corpus callosum, anterior commissure, and caudate putamen were significantly smaller in Cntnap2 (+/-) male offspring exposed to fructose. No brain alterations were found in the female counterparts. Nissl staining of the caudate putamen revealed higher neuronal cell count in the male fructose offspring. Female group revealed an increase in caudate putamen neuronal cell count. Conclusion Metabolic dysregulation in pregnancy alters fetal brain development in genetically predisposed offspring. This is consistent with findings in human studies and supports the role of intrauterine factors in the etiology of autism. Lien vers le texte intégral (Open Access ou abonnement)
16. Tobe RH, Corcoran CM, Breland M, MacKay-Brandt A, Klim C, Colcombe SJ, Leventhal BL, Javitt DC. {{Differential profiles in auditory social cognition deficits between adults with autism and schizophrenia spectrum disorders: A preliminary analysis}}. {J Psychiatr Res}. 2016; 79: 21-7.
Impairment in social cognition, including emotion recognition, has been extensively studied in both Autism Spectrum Disorders (ASD) and Schizophrenia (SZ). However, the relative patterns of deficit between disorders have been studied to a lesser degree. Here, we applied a social cognition battery incorporating both auditory (AER) and visual (VER) emotion recognition measures to a group of 19 high-functioning individuals with ASD relative to 92 individuals with SZ, and 73 healthy control adult participants. We examined group differences and correlates of basic auditory processing and processing speed. Individuals with SZ were impaired in both AER and VER while ASD individuals were impaired in VER only. In contrast to SZ participants, those with ASD showed intact basic auditory function. Our finding of a dissociation between AER and VER deficits in ASD relative to Sz support modality-specific theories of emotion recognition dysfunction. Future studies should focus on visual system-specific contributions to social cognitive impairment in ASD.
