1. Azad G, Mandell DS. {{Concerns of parents and teachers of children with autism in elementary school}}. {Autism};2015 (Jun 11)
Many consensus guidelines encourage parents and teachers to openly communicate about their concerns regarding their children. These guidelines attest to the importance of achieving consensus about what issues are most critical and how to address them. The purpose of this study was to examine whether parents and teachers (1) agree about their concerns for their children with autism and (2) when given the opportunity, whether they discussed these concerns. Participants were 39 parent-teacher dyads of children with autism in kindergarten-through-fifth grade autism support classrooms. Each parent and teacher was interviewed separately about their concerns and then observed together in a discussion about the child. Parents and teachers generally agreed about their primary and secondary concerns. When given an opportunity to communicate their concerns, 49% of the parent-teacher dyads discussed problems that neither reported as their primary concern, and 31% discussed problems that neither reported as their primary or secondary concern. These findings suggest that interventions should target parent-teacher communication, rather than agreement, to facilitate home-school collaboration.
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2. Broderick N, Wade JL, Meyer JP, Hull M, Reeve RE. {{Model Invariance Across Genders of the Broad Autism Phenotype Questionnaire}}. {J Autism Dev Disord};2015 (Jun 11)
ASD is one of the most heritable neuropsychiatric disorders, though comprehensive genetic liability remains elusive. To facilitate genetic research, researchers employ the concept of the broad autism phenotype (BAP), a milder presentation of traits in undiagnosed relatives. Research suggests that the BAP Questionnaire (BAPQ) demonstrates psychometric properties superior to other self-report measures. To examine evidence regarding validity of the BAPQ, the current study used confirmatory factor analysis to test the assumption of model invariance across genders. Results of the current study upheld model invariance at each level of parameter constraint; however, model fit indices suggested limited goodness-of-fit between the proposed model and the sample. Exploratory analyses investigated alternate factor structure models but ultimately supported the proposed three-factor structure model.
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3. Brondino N, Fusar-Poli L, Rocchetti M, Provenzani U, Barale F, Politi P. {{Complementary and Alternative Therapies for Autism Spectrum Disorder}}. {Evid Based Complement Alternat Med};2015;2015:258589.
Background. Complementary and alternative medicine (CAM) represents a popular therapeutic option for patients with autism spectrum disorder (ASD). Unfortunately, there is a paucity of data regarding the efficacy of CAM in ASD. The aim of the present systematic review is to investigate trials of CAM in ASD. Material and Methods. We searched the following databases: MEDLINE, EMBASE, Cochrane Database of Systematic Reviews, CINAHL, Psychology and Behavioral Sciences Collection, Agricola, and Food Science Source. Results. Our literature search identified 2687 clinical publications. After the title/abstract screening, 139 publications were obtained for detailed evaluation. After detailed evaluation 67 studies were included, from hand search of references we retrieved 13 additional studies for a total of 80. Conclusion. There is no conclusive evidence supporting the efficacy of CAM therapies in ASD. Promising results are reported for music therapy, sensory integration therapy, acupuncture, and massage.
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4. Chevallier C, Parish-Morris J, McVey A, Rump KM, Sasson NJ, Herrington JD, Schultz RT. {{Measuring social attention and motivation in autism spectrum disorder using eye-tracking: Stimulus type matters}}. {Autism Res};2015 (Jun 10)
Autism Spectrum Disorder (ASD) is characterized by social impairments that have been related to deficits in social attention, including diminished gaze to faces. Eye-tracking studies are commonly used to examine social attention and social motivation in ASD, but they vary in sensitivity. In this study, we hypothesized that the ecological nature of the social stimuli would affect participants’ social attention, with gaze behavior during more naturalistic scenes being most predictive of ASD vs. typical development. Eighty-one children with and without ASD participated in three eye-tracking tasks that differed in the ecological relevance of the social stimuli. In the « Static Visual Exploration » task, static images of objects and people were presented; in the « Dynamic Visual Exploration » task, video clips of individual faces and objects were presented side-by-side; in the « Interactive Visual Exploration » task, video clips of children playing with objects in a naturalistic context were presented. Our analyses uncovered a three-way interaction between Task, Social vs. Object Stimuli, and Diagnosis. This interaction was driven by group differences on one task only-the Interactive task. Bayesian analyses confirmed that the other two tasks were insensitive to group membership. In addition, receiver operating characteristic analyses demonstrated that, unlike the other two tasks, the Interactive task had significant classification power. The ecological relevance of social stimuli is an important factor to consider for eye-tracking studies aiming to measure social attention and motivation in ASD. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Clarke C. {{Autism Spectrum Disorder and Amplified Pain}}. {Case Rep Psychiatry};2015;2015:930874.
Among the core features of ASD, altered sensitivities in all modalities have been accorded increasing importance. Heightened sensitivity to pain and unusual expressions of and reaction to pain have not hitherto been widely recognised as a presenting feature of ASD in general paediatrics. Failure to recognise ASD as a common cause of pain can lead to late diagnosis, inappropriate treatment, distress, and further disability. Two cases are presented which illustrate the late presentation of Autism Spectrum Disorder (Asperger’s Syndrome subtype) with chronic unusual pain. Conclusion. Pain in autism can be atypical in its experience and expression and for this reason may go unrecognised by physicians treating chronic pain disorders.
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6. Curtin C, Hubbard K, Anderson SE, Mick E, Must A, Bandini LG. {{Food Selectivity, Mealtime Behavior Problems, Spousal Stress, and Family Food Choices in Children with and without Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 13)
Mealtime behavior problems and family stress occur frequently among families of children with autism spectrum disorder (ASD). However, it is unknown whether food selectivity is an associated factor. The associations of high food selectivity with mealtime behavior problems, spousal stress, and influence on family members were assessed among 53 children with ASD and 58 typically developing (TD) children ages 3-11 years. Compared to TD children, children with ASD were more likely to have high food selectivity, and their parents reported more mealtime behavior problems, higher spousal stress, and influence on what other family members ate. High food selectivity was associated with mealtime behavior problems in both groups. Interventions to reduce food selectivity may lead to decreases in mealtime behavior problems.
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7. Guxens M, Ghassabian A, Gong T, Garcia-Esteban R, Porta D, Giorgis-Allemand L, Almqvist C, Aranbarri A, Beelen R, Badaloni C, Cesaroni G, de Nazelle A, Estarlich M, Forastiere F, Forns J, Gehring U, Ibarluzea J, Jaddoe VW, Korek M, Lichtenstein P, Nieuwenhuijsen MJ, Rebagliato M, Slama R, Tiemeier H, Verhulst FC, Volk HE, Pershagen G, Brunekreef B, Sunyer J. {{Air Pollution Exposure during Pregnancy and Childhood Autistic Traits in Four European Population-Based Cohort Studies: The ESCAPE Project}}. {Environ Health Perspect};2015 (Jun 12)
BACKGROUND: Prenatal exposure to air pollutants has been suggested as a possible etiologic factor for the occurrence of autism spectrum disorder. OBJECTIVES: To assess whether prenatal air pollution exposure is associated with childhood autistic traits in the general population. METHODS: Collaborative study of four European population-based birth/child cohorts -CATSS (Sweden), GENERATION R (the Netherlands), GASPII (Italy), and INMA (Spain). Nitrogen oxides (NO2, NOx) and particulate matter (PM) with diameters of <2.5 microm (PM2.5), <10 microm (PM10), and between 2.5-10 microm (PMcoarse) and PM2.5 absorbance- were estimated for birth addresses by land-use regression models based on monitoring campaigns performed between 2008 and 2011. Levels were extrapolated back in time to exact pregnancy periods. Autistic traits were assessed between four and ten years of age using quantitative assessments. Children were classified with autistic traits within the borderline/clinical range and within the clinical range using validated cut-offs. Adjusted cohort-specific effect estimates were combined using random-effects meta-analysis. RESULTS: A total of 8,079 children were included. Prenatal air pollution exposure was not associated with autistic traits within the borderline/clinical range (OR = 0.94; 95% CI: 0.81, 1.10 per each increase by 10 microg/m3 in NO2 pregnancy levels). Similar results were observed in the different cohorts, for the other pollutants, and assessing children with autistic traits within the clinical range or children with autistic traits as a quantitative score. CONCLUSIONS: Prenatal exposure to NO2 and PM was not associated with autistic traits in children from four to ten years of age in four European population-based birth/child cohort studies.
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8. Halladay AK, Bishop S, Constantino JN, Daniels AM, Koenig K, Palmer K, Messinger D, Pelphrey K, Sanders SJ, Singer AT, Taylor JL, Szatmari P. {{Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority}}. {Mol Autism};2015;6:36.
One of the most consistent findings in autism spectrum disorder (ASD) research is a higher rate of ASD diagnosis in males than females. Despite this, remarkably little research has focused on the reasons for this disparity. Better understanding of this sex difference could lead to major advancements in the prevention or treatment of ASD in both males and females. In October of 2014, Autism Speaks and the Autism Science Foundation co-organized a meeting that brought together almost 60 clinicians, researchers, parents, and self-identified autistic individuals. Discussion at the meeting is summarized here with recommendations on directions of future research endeavors.
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9. Johnson CM, Cui N, Zhong W, Oginsky MF, Jiang C. {{Breathing abnormalities in a female mouse model of Rett syndrome}}. {J Physiol Sci};2015 (Jun 13)
Rett syndrome (RTT) is a female neurodevelopmental disease with breathing abnormalities. To understand whether breathing defects occur in the early lives of a group of female Mecp2 +/- mice, a mouse model of RTT, and what percentage of mice shows RTT-like breathing abnormality, breathing activity was measured by plethysmography in conscious mice. Breathing frequency variation and central apnea in a group of Mecp2 +/- females displayed a distribution pattern similar to Mecp2 -/Y males, while the rest resembled the wild-type mice. Similar results were obtained using the k-mean clustering statistics analysis. With two independent methods, about 20 % of female Mecp2 +/- mice showed RTT-like breathing abnormalities that began as early as 3 weeks of age in the Mecp2 +/- mice, and were suppressed with 3 % CO2. The finding that only a small proportion of Mecp2 +/- mice develops RTT-like breathing abnormalities suggests incomplete allele inactivation in the RTT-model Mecp2 +/- mice.
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10. Johnson CMR. {{Development and Pilot Testing of a Healthy Eating Video-Supported Program for Adults with Developmental Disabilities}}. {Can J Diet Pract Res};2014 (Sep);75(3):140-144.
Video technology is a potentially effective means to teach individuals with developmental disabilities (DD) about healthy eating. Research in this area, however, is relatively unexplored. This study developed and tested a video intervention to teach healthy eating to adults with DD. A 5-segment educational video, an accompanying workbook, and a facilitator guide were developed to teach basic healthy eating concepts to adults with DD. Twelve adults with DD took part in a 5-week educational program led by trained facilitators using the materials created. Pre- and posttests were used to measure knowledge gained from participating in the intervention. Seventy-five percent (n = 9) of participants improved their knowledge scores, 8% (n = 1) maintained residue knowledge, and 17% (n = 2) had a decrease in their score. Video instructions can be an effective intervention modality to increase knowledge in adults with DD about healthy eating. Key enablers identified for participants’ knowledge gain included video content developed based on the learning need and cognitive level of intended users; program delivered by facilitators trained in effective teaching strategies; and engaging the participants’ staff, family, and caregivers to provide ongoing reinforcement about healthy eating.
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11. Kramer JM, Liljenquist K, Ni P, Coster WJ. {{Examining differential responses of youth with and without autism on a measure of everyday activity performance}}. {Qual Life Res};2015 (Jun 11)
PURPOSE: This study further investigated items with differential item function (DIF) in the Social/Cognitive domain of a measure of everyday activity performance, the Pediatric Evaluation of Disability Inventory-Computer Adapted Test version for Autism « PEDI-CAT (ASD), » to understand possible sources of response variation in a heterogeneous sample of youth with autism compared to the national standardization sample. METHODS: Cross-sectional design. A convenience sample of parents who identified they had a child between 3 and 21 years (M = 11.9 years, SD = 4.67 years) with autism (n = 365) completed an online survey that included the PEDI-CAT (ASD) and descriptive measures. For 28 items previously identified as having DIF, the PEDI-CAT (ASD) expected item score curves for the autism sample were compared to the original PEDI-CAT standardization sample. The weighted area between expected score curves (wABC) was also calculated; values >0.24 indicate significant DIF. RESULTS: All items had wABC that exceeded the criterion. Compared with peers without disabilities at the same ability level, 11 items were significantly more difficult for the youth with autism and 16 items were significantly easier. One item demonstrated non-uniform DIF. CONCLUSION: Differential responses could indicate that: (1) children with autism have a different developmental pattern of skill acquisition for everyday activities in the Social/Cognitive domain, or (2) parents of children with autism utilize a unique appraisal process when assessing their children’s functional performance of everyday activities. Further research is required to better understand the factors leading to differential responses on the targeted items. The study illustrates the value of in-depth analysis of DIF to gain insight into the impact of a clinical condition on functional performance.
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12. Kucukkal TG, Alexov E. {{Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2}}. {Comput Math Methods Med};2015;2015:746157.
Rett Syndrome (RTT) is a progressive neurodevelopmental disease affecting females. RTT is caused by mutations in the MECP2 gene and various amino acid substitutions have been identified clinically in different domains of the multifunctional MeCP2 protein encoded by this gene. The R133C variant in the methylated-CpG-binding domain (MBD) of MeCP2 is the second most common disease-causing mutation in the MBD. Comparative molecular dynamics simulations of R133C mutant and wild-type MBD have been performed to understand the impact of the mutation on structure, dynamics, and interactions of the protein and subsequently understand the disease mechanism. Two salt bridges within the protein and two critical hydrogen bonds between the protein and DNA are lost upon the R133C mutation. The mutation was found to weaken the interaction with DNA and also cause loss of helicity within the 141-144 region. The structural, dynamical, and energetical consequences of R133C mutation were investigated in detail at the atomic resolution. Several important implications of this have been shown regarding protein stability and hydration dynamics as well as its interaction with DNA. The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant.
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13. Larson FV, Lai MC, Wagner AP, Baron-Cohen S, Holland AJ. {{Testing the ‘Extreme Female Brain’ Theory of Psychosis in Adults with Autism Spectrum Disorder with or without Co-Morbid Psychosis}}. {PLoS One};2015;10(6):e0128102.
INTRODUCTION: Males and females in the general population differ, on average, in their drive for empathizing (higher in females) and systemizing (higher in males). People with autism spectrum disorder (ASD) show a drive for systemizing over empathizing, irrespective of sex, which led to the conceptualisation of ASD as an ‘extreme of the typical male brain’. The opposite cognitive profile, an ‘extreme of the typical female brain’, has been proposed to be linked to conditions such as psychosis and mania/hypomania. METHODS: We compared an empathizing-over-systemizing bias (for short ’empathizing bias’) in individuals with ASD, who had experienced psychotic illness (N = 64) and who had not (N = 71). RESULTS: There were overall differences in the distribution of cognitive style. Adults with ASD who had experienced psychosis were more likely to show an empathizing bias than adults with ASD who had no history of psychosis. This was modulated by IQ, and the group-difference was driven mainly by individuals with above-average IQ. In women with ASD and psychosis, the link between mania/hypomania and an empathizing bias was greater than in men with ASD. CONCLUSIONS: The bias for empathizing over systemizing may be linked to the presence of psychosis in people with ASD. Further research is needed in a variety of clinical populations, to understand the role an empathizing bias may play in the development and manifestation of mental illness.
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14. Lin IF, Yamada T, Komine Y, Kato N, Kato M, Kashino M. {{Vocal Identity Recognition in Autism Spectrum Disorder}}. {PLoS One};2015;10(6):e0129451.
Voices can convey information about a speaker. When forming an abstract representation of a speaker, it is important to extract relevant features from acoustic signals that are invariant to the modulation of these signals. This study investigated the way in which individuals with autism spectrum disorder (ASD) recognize and memorize vocal identity. The ASD group and control group performed similarly in a task when asked to choose the name of the newly-learned speaker based on his or her voice, and the ASD group outperformed the control group in a subsequent familiarity test when asked to discriminate the previously trained voices and untrained voices. These findings suggest that individuals with ASD recognized and memorized voices as well as the neurotypical individuals did, but they categorized voices in a different way: individuals with ASD categorized voices quantitatively based on the exact acoustic features, while neurotypical individuals categorized voices qualitatively based on the acoustic patterns correlated to the speakers’ physical and mental properties.
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15. May T, Cornish K, Rinehart NJ. {{Mechanisms of Anxiety Related Attentional Biases in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 13)
Children with autism spectrum disorder (ASD) have high levels of anxiety. It is unclear whether they exhibit threat-related attentional biases commensurate with anxiety disorders as manifest in non-ASD populations, such as facilitated attention toward, and difficulties disengaging engaging from, threatening stimuli. Ninety children, 45 cognitively able with ASD and 45 age, perceptual-IQ, and gender matched typically developing children, aged 7-12 years, were administered a visual dot probe task using threatening facial pictures. Parent-reported anxiety symptoms were also collected. Children with ASD showed similarly high levels of anxiety compared with normative data from an anxiety disordered sample. Children with ASD had higher levels of parent-reported anxiety but did not show differences in disengaging from, or facilitated attention toward, threatening facial stimuli compared with typically developing children. In contrast to previously published studies of anxious children, in this study there were no differences in attentional biases in children with ASD meeting clinical cutoff for anxiety and those who did not. There were no correlations between attentional biases and anxiety symptoms and no gender differences. These findings indicate the cognitive mechanisms underlying anxiety in cognitively able children with ASD could differ from those commonly found in anxious children which may have implications for both understanding the aetiology of anxiety in ASD and for anxiety interventions.
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16. McConachie H, Parr JR, Glod M, Hanratty J, Livingstone N, Oono IP, Robalino S, Baird G, Beresford B, Charman T, Garland D, Green J, Gringras P, Jones G, Law J, Le Couteur AS, Macdonald G, McColl EM, Morris C, Rodgers J, Simonoff E, Terwee CB, Williams K. {{Systematic review of tools to measure outcomes for young children with autism spectrum disorder}}. {Health Technol Assess};2015 (Jun);19(41):1-506.
BACKGROUND: The needs of children with autism spectrum disorder (ASD) are complex and this is reflected in the number and diversity of outcomes assessed and measurement tools used to collect evidence about children’s progress. Relevant outcomes include improvement in core ASD impairments, such as communication, social awareness, sensory sensitivities and repetitiveness; skills such as social functioning and play; participation outcomes such as social inclusion; and parent and family impact. OBJECTIVES: To examine the measurement properties of tools used to measure progress and outcomes in children with ASD up to the age of 6 years. To identify outcome areas regarded as important by people with ASD and parents. METHODS: The MeASURe (Measurement in Autism Spectrum disorder Under Review) research collaboration included ASD experts and review methodologists. We undertook systematic review of tools used in ASD early intervention and observational studies from 1992 to 2013; systematic review, using the COSMIN checklist (Consensus-based Standards for the selection of health Measurement Instruments) of papers addressing the measurement properties of identified tools in children with ASD; and synthesis of evidence and gaps. The review design and process was informed throughout by consultation with stakeholders including parents, young people with ASD, clinicians and researchers. RESULTS: The conceptual framework developed for the review was drawn from the International Classification of Functioning, Disability and Health, including the domains ‘Impairments’, ‘Activity Level Indicators’, ‘Participation’, and ‘Family Measures’. In review 1, 10,154 papers were sifted – 3091 by full text – and data extracted from 184; in total, 131 tools were identified, excluding observational coding, study-specific measures and those not in English. In review 2, 2665 papers were sifted and data concerning measurement properties of 57 (43%) tools were extracted from 128 papers. Evidence for the measurement properties of the reviewed tools was combined with information about their accessibility and presentation. Twelve tools were identified as having the strongest supporting evidence, the majority measuring autism characteristics and problem behaviour. The patchy evidence and limited scope of outcomes measured mean these tools do not constitute a ‘recommended battery’ for use. In particular, there is little evidence that the identified tools would be good at detecting change in intervention studies. The obvious gaps in available outcome measurement include well-being and participation outcomes for children, and family quality-of-life outcomes, domains particularly valued by our informants (young people with ASD and parents). CONCLUSIONS: This is the first systematic review of the quality and appropriateness of tools designed to monitor progress and outcomes of young children with ASD. Although it was not possible to recommend fully robust tools at this stage, the review consolidates what is known about the field and will act as a benchmark for future developments. With input from parents and other stakeholders, recommendations are made about priority targets for research. FUTURE WORK: Priorities include development of a tool to measure child quality of life in ASD, and validation of a potential primary outcome tool for trials of early social communication intervention. STUDY REGISTRATION: This study is registered as PROSPERO CRD42012002223. FUNDING: The National Institute for Health Research Health Technology Assessment programme.
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17. Nowack N, Wittsiepe J, Kasper-Sonnenberg M, Wilhelm M, Scholmerich A. {{Influence of Low-Level Prenatal Exposure to PCDD/Fs and PCBs on Empathizing, Systemizing and Autistic Traits: Results from the Duisburg Birth Cohort Study}}. {PLoS One};2015;10(6):e0129906.
BACKGROUND: Polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs) and polychlorinated biphenyls (PCBs) are assumed to act as endocrine disruptor chemicals. Prenatal exposure to these pollutants might influence fetal steroid hormone levels, which are thought to be related to sex-typical development and autistic traits. OBJECTIVES: We examined associations of prenatal levels of PCDD/Fs and PCBs with autism traits and sex-typical behaviour in childhood. METHODS: We measured levels of PCDD/Fs and PCBs in maternal blood samples during pregnancy using gas chromatography/high-resolution mass spectrometry. Sex-typical behaviour was assessed at 9 years of age (n = 96) and autistic traits at 10 years of age using the Social Responsiveness Scale (SRS; n = 100). Multiple regression analyses were conducted to estimate the associations between prenatal exposure and outcome variables. RESULTS: Blood concentrations (WHO2005-TEq) of PCDD/Fs ranged from 2.93-46.45 pg/g lipid base (median = 12.91 pg/g lipid base) and concentrations of PCBs were in the range of 1.24-25.47 pg/g lipid base (median = 6.85 pg/g lipid base) which is within the range of German background exposure. We found significant negative associations between PCDD/F levels in maternal blood and SRS scores in the whole group (beta = -6.66, p < .05), in girls (beta = -10.98, p < .05) and, in one SRS subscale, in boys (beta = -6.86, p < .05). For PCB levels, associations with one SRS subscale were significant for the whole study group as were associations with two subscales in girls. We did not find significant associations between PCDD/F or PCB levels and sex-typical behaviour for either sex. CONCLUSIONS: In an earlier part of this study, prenatal exposure to PCDD/Fs and PCBs was found to be associated with lower testosterone levels, therefore, our findings are consistent with the idea that autism spectrum conditions are related to fetal androgen levels. Several possible mechanisms, through which PCDD/Fs and PCBs might influence autistic behaviour, are discussed.
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18. Pisula E, Ziegart-Sadowska K. {{Broader Autism Phenotype in Siblings of Children with ASD-A Review}}. {Int J Mol Sci};2015;16(6):13217-13258.
Although less pronounced, social, cognitive, and personality characteristics associated with autism spectrum disorders (ASD) may be present in people who do not meet ASD diagnostic criteria, especially in first-degree relatives of individuals with ASD. Research on these characteristics, referred to as broader autism phenotype (BAP), provides valuable data on potential expressions of autism-specific deficits in the context of family relations. This paper offers a review of research on BAP in siblings of individuals with ASD, focusing on reports regarding social, communication, and cognitive deficits, published from 1993 to 2014. The studies are divided into two groups based on participants’ age: papers on preschool and older siblings of individuals with ASD; and publications on infants at risk for ASD. On the basis of this review, suggestions are offered for further research and its significance for our understanding of the genetic determinants of autism.
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19. Poole D, Gowen E, Warren PA, Poliakoff E. {{Investigating Visual-Tactile Interactions over Time and Space in Adults with Autism}}. {J Autism Dev Disord};2015 (Jun 11)
It has been suggested that the sensory symptoms which affect many people with autism spectrum conditions (ASC) may be related to alterations in multisensory processing. Typically, the likelihood of interactions between the senses increases when information is temporally and spatially coincident. We explored visual-tactile interactions in adults with ASC for the first time in two experiments using low-level stimuli. Both participants with ASC and matched neurotypical controls only produced crossmodal interactions to near simultaneous stimuli, suggesting that temporal modulation is unaffected in the adult population. We also provide preliminary evidence that visual-tactile interactions may occur over greater spatial distances in participants with ASC, which merits further exploration.
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20. Reiff M, Giarelli E, Bernhardt BA, Easley E, Spinner NB, Sankar PL, Mulchandani S. {{Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2015 (Jun 12)
Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test’s perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
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21. Sauce B, Wass C, Netrakanti M, Saylor J, Schachner M, Matzel LD. {{Heterozygous L1-deficient mice express an autism-like phenotype}}. {Behav Brain Res};2015 (Jun 13)
The L1CAM (L1) gene encodes a cell adhesion molecule that contributes to several important processes in the developing and adult nervous system, including neuronal migration, survival, and plasticity. In humans and mice, mutations in the X chromosome-linked gene L1 cause severe neurological defects in males. L1 heterozygous female mice with one functional copy of the L1 gene show complex morphological features that are different from L1 fully-deficient and wild-type littermate mice. However, almost no information is available on the behavior of L1 heterozygous mice and humans. Here, we investigated the behavior of heterozygous female mice in which the L1 gene is constitutively inactivated. These mice were compared to wild-type littermate females. Animals were assessed in five categories of behavioral tests: five tests for anxiety/stress/exploration, four tests for motor abilities, two tests for spatial learning, three tests for social behavior, and three tests for repetitive behavior. We found that L1 heterozygous mice express abnormalities in the Sociability test (a standard test used in animal models of autism) and exhibit excessive self-grooming (a repetitive behavior also typical in animal models of autism). L1 heterozygous mice also exhibited an increase in sensitivity to light, assessed by a reluctance to enter the lighted areas of novel environments. However, levels of anxiety, stress, motor abilities, and spatial learning in L1 heterozygous mice were similar to those of wild-type mice. These observations raise the possibility that using molecules known to trigger L1 functions may become valuable in ameliorating the consequences of reduced levels in L1 expression in humans.
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22. Shah P, Sowden S. {{Insights into Social Perception in Autism}}. {J Neurosci};2015 (Jun 10);35(23):8689-8690.
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23. Trembath D, Vivanti G, Iacono T, Dissanayake C. {{Accurate or Assumed: Visual Learning in Children with ASD}}. {J Autism Dev Disord};2015 (Jun 13)
Children with autism spectrum disorder (ASD) are often described as visual learners. We tested this assumption in an experiment in which 25 children with ASD, 19 children with global developmental delay (GDD), and 17 typically developing (TD) children were presented a series of videos via an eye tracker in which an actor instructed them to manipulate objects in speech-only and speech + pictures conditions. We found no group differences in visual attention to the stimuli. The GDD and TD groups performed better when pictures were available, whereas the ASD group did not. Performance of children with ASD and GDD was positively correlated with visual attention and receptive language. We found no evidence of a prominent visual learning style in the ASD group.
