1. Bishop-Fitzpatrick L, Mazefsky CA, Minshew NJ, Eack SM. {{The Relationship Between Stress and Social Functioning in Adults With Autism Spectrum Disorder and Without Intellectual Disability}}. {Autism Res}. 2014.
Adults with autism spectrum disorder (ASD) face substantial challenges accomplishing basic tasks associated with daily living, which are exacerbated by their broad and pervasive difficulties with social interactions. These challenges put people with ASD at increased risk for psychophysiological distress, which likely factors heavily into social functioning for adults with ASD, as suggested by a growing literature on stress in children that indicates that children with ASD have differential responses to stress than healthy children. We hypothesized that adults with ASD and without intellectual disability (n = 38) would experience more stress than healthy volunteers (n = 37) and that there would be an inverse relationship between stress and social functioning in individuals with ASD. Baseline, semi-structured interview data from a randomized controlled trial of two treatments for adults with ASD were used to assess differences in stress between adults with ASD and healthy volunteers and to assess the relationship between stress response and social functioning in adults with ASD. Findings indicate that adults with ASD experience greater perceived and interviewer-observed stress than healthy volunteers and that stress is significantly related to social functioning in adults with ASD. These findings highlight the role of stress in adult functioning and outcomes and suggest the need to develop and assess treatments designed to target stress and coping in adults with ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Blick MG, Puchalski BH, Bolanos VJ, Wolfe KM, Green MC, Ryan BC. {{NOVEL OBJECT EXPLORATION IN THE C58/J MOUSE MODEL OF AUTISTIC-LIKE BEHAVIOR}}. {Behav Brain Res}. 2014.
Mouse models of autistic like behaviors are a valuable tool to use when studying the causes, symptoms, and potential treatments for autism. The inbred C58/J strain is a strain of interest for this model and has previously been shown to possess face validity for some of the core traits of autism, including low social behavior and elevated motor stereotypies. Higher order repetitive behaviors have not been extensively studied in this strain, or in mice in general. In this study, we looked for evidence of higher-order repetitive behaviors in the C58/J strain using a novel object assay. This assay utilized a mouse’s natural exploratory behavior among unfamiliar objects to identify potential sequencing patterns in motor activity. The motor stereotypies displayed by the C58/J strain during testing were consistent with past studies. The C58/J strain also displayed a high preference for a single object in the round arena assays and the females demonstrating elevated sequencing patterns in the round arena. Although the C58/J strain did not show pervasive evidence of higher-order repetitive behaviors across all measures, there was evidence of higher order repetitive behaviors in certain situations. This study further demonstrates the potential of the C58/J mouse strains as a model for lower-order and potentially, higher-order repetitive behaviors. This study also demonstrates that the shape of the novel object arena can change the behavior displayed by the test animals. Further studies utilizing the C58/J strain and further validation of the novel object assay are warranted.
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3. Ewing L, Caulfield F, Read A, Rhodes G. {{Appearance-based trust behaviour is reduced in children with autism spectrum disorder}}. {Autism}. 2014.
Typical individuals make rapid and reliable evaluations of trustworthiness from facial appearances, which can powerfully influence behaviour. However, the same may not be true for children with autism spectrum disorder. Using an economic trust game, the current study revealed that like typical children, children with autism spectrum disorder rationally modulate their trust behaviour based on non-face cues to partner trustworthiness (e.g. reputation information). Critically, however, they are no more likely to place their trust in partners with faces that look trustworthy to them, than those that look untrustworthy. These results cannot be accounted for by any group differences in children’s conceptualization of trustworthiness, ability to read trustworthiness from faces or understanding of the experimental paradigm. Instead, they seem to suggest that there may be a selective failure to spontaneously use facial cues to trustworthiness to guide behaviour in an ecologically valid context.
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4. Griffith GM, Hastings RP, Petalas MA, Lloyd TJ. {{Mothers’ expressed emotion towards children with autism spectrum disorder and their siblings}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Expressed emotion (EE) is a construct used to measure the emotional climate within families. EE is of interest to researchers in the field of autism spectrum disorder (ASD) because of its putative implications for child development. The aim was to explore whether maternal EE differs towards a child with ASD and a non-disabled sibling. METHODS: We adopted a within-family design with 143 mothers of children with ASD and a non-disabled sibling. EE was measured using the Five-Minute Speech Sample. RESULTS: Wilcoxon signed-rank tests were utilised. Mothers were coded as significantly more critical and less warm towards their child with ASD than towards the sibling. There were no significant differences in maternal emotional overinvolvement or overall EE towards the child with ASD and a sibling. CONCLUSIONS: The data support the results of previous research suggesting that EE is linked to the relationship a mother has with individual children, rather than being evidence of the character disposition of mothers. More research is needed to understand the emotional dimensions of parent-child relationships in families with children with ASD.
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5. Hadad BS, Ziv Y. {{Strong Bias Towards Analytic Perception in ASD Does not Necessarily Come at the Price of Impaired Integration Skills}}. {J Autism Dev Disord}. 2014.
We first demonstrated analytic processing in ASD under conditions in which integral processing seems mandatory in TD observers, a pattern that is often taken to indicate a local default processing in ASD. However, this processing bias does not inevitably come at the price of impaired integration skills. Indeed, examining the same group of individuals with ASD on a task with explicit demands for integrated representations, Experiment 2 showed that the same observers with ASD demonstrated intact spatial integration. The results further showed that performance was not only quantitatively, but also qualitatively comparable to that of TD observers, demonstrating the sensitivity of integration in ASD to the same interactive effects of Gestalt cues.
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6. Hansakunachai T, Roongpraiwan R, Sombuntham T, Limprasert P, Ruangdaraganon N. {{A new structured interview for children with autism spectrum disorder based on the DSM-IV}}. {J Med Assoc Thai}. 2014; 97 Suppl 8: S7-14.
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. The clinical spectrum of ASD includes autism, childhood disintegrative disorder Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS). Although the DSM-IVcriteria are well acceptedforASD diagnosis, there are some known limitations for clinicians. The most important issue is lack’ofspecific age-appropriate items in each domain. Thus, the DSM-IVneeds some modifications in order to be appropriate for clinical use. OBJECTIVE: To develop a structured interview for children based on the DSM-IVdiagnostic criteria ofautism and PDD-NOS. MATERIAL ANDMETHOD: From June 2006 to December 2008, 140 Thai children, 121 boys and 19 girls, already diagnosed with ASD, were recruited through the child development clinics of Ramathibodi and Thammasat University Hospitals in Thailand. A 26-item structured interview was developed with scoring according to the DSM-IVdiagnostic criteria for autism andPDD- NOS. To test the accuracy of the structured interview and its reliability, 32 children with ASD were selected and interviewed by four clinicians using the new instrument. One clinician interviewed the parents or caregivers, while three others independently took notes and observed the play behavior of the children. All items from the structured interview as scored by each clinician were compared using inter-rater agreement statistics (Kappa). All of the original 140 patients were then clinically diagnosed again using the structured interview and the results were compared with the initial diagnoses. RESULTS: Ofthe 140patients originally diagnosed with ASD, 110 and 30patients were finally diagnosed with the new interview as having autism and PDD-NOS, respectively. The initial diagnoses from 15 cases (10.7%) were changed according to the structured interview Inter-rater reliability among the four clinicians showed a good level ofagreement (Kappa = 0.897) with statistical significance (p<0.001). The authors only compared the items in the structured interview between the autism and PDD-NOSgroups from 105 cases aged 2-5 years (79 cases with autism and 26 cases with PDD-NOS) because there were only 4 cases with PDD-NOS in the other age groups. Highly significant differences (p<0.001) in clinical items between patients with autism and patients with PDD-NOS from the final diagnoses were noted in 6 of 8 items in the category of restricted, repetitive and stereotyped patterns ofbehavior, interests and activities, which were more common in the autism group than the PDD-NOS group. In addition, the autism group had higher frequencies of using finger-pointing to indicate interest rather than verbalization, and idiosyncratic language, than the PDD-NOS group. CONCLUSION: The newly developed structured interview for Thai children with ASD had a high level ofinterrater reliability between four clinicians. However, most children tested using this structured interview were 2-5years ofage, and the study did not include non-autistic groups. The application ofthis structured interview needs further study with a wider variety ofcases, such as ASD cases from different age groups, children with delayed development and normal children.
7. Hustyi KM, Hall SS, Quintin EM, Chromik LC, Lightbody AA, Reiss AL. {{The Relationship Between Autistic Symptomatology and Independent Living Skills in Adolescents and Young Adults with Fragile X Syndrome}}. {J Autism Dev Disord}. 2014.
Few studies have examined the relationship between autistic symptomatology and competence in independent living skills in adolescents and young adults with fragile X syndrome (FXS). In this study, 70 individuals with FXS, aged 15-25 years, and 35 matched controls were administered direct measures of independent living skills and autistic symptomatology. Results showed that higher levels of autistic symptomatology were associated with lower levels of competence in independent living skills in individuals with FXS, but not in controls. These data indicated that the relationship between autistic symptomatology and independent living skills was syndrome-specific. Early intervention strategies that address autistic symptomatology are sorely needed to improve functional outcomes in this population.
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8. Isomura T, Ito H, Ogawa S, Masataka N. {{Absence of predispositional attentional sensitivity to angry faces in children with autism spectrum disorders}}. {Sci Rep}. 2014; 4: 7525.
A rapid allocation of attention towards threatening stimuli in the environment is crucial for survival. Angry facial expressions act as threatening stimuli, and capture humans’ attention more rapidly than emotionally positive facial expressions – a phenomenon known as the Anger Superiority Effect (ASE). Despite atypical emotional processing, adults with Autism Spectrum Disorders (ASD) have been reported to show ASE similar to typically developed (TD) individuals. One important question is whether the basic process for ASE is intact in individuals with ASD or whether instead they acquire an alternative process that enables ASE. To address this question, we tested the prevalence of ASE in young children with and without ASD using a face-in-the-crowd task. ASE was clearly observed in TD children, whereas ASD children did not show the effect. In contrast to previous reports of ASE in adults or relatively older children with ASD, our results suggest that in ASD basic predispositional mechanisms to allocate attention quickly towards angry faces are not preserved.
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9. Kissin DM, Zhang Y, Boulet SL, Fountain C, Bearman P, Schieve L, Yeargin-Allsopp M, Jamieson DJ. {{Association of assisted reproductive technology (ART) treatment and parental infertility diagnosis with autism in ART-conceived children}}. {Hum Reprod}. 2014.
STUDY QUESTION: Are assisted reproductive technology (ART) treatment factors or infertility diagnoses associated with autism among ART-conceived children? SUMMARY ANSWER: Our study suggests that the incidence of autism diagnosis in ART-conceived children during the first 5 years of life was higher when intracytoplasmic sperm injection (ICSI) was used compared with conventional IVF, and lower when parents had unexplained infertility (among singletons) or tubal factor infertility (among multiples) compared with other types of infertility. WHAT IS KNOWN ALREADY: Some studies found an increased risk of autism among ART-conceived infants compared with spontaneously-conceived infants. However, few studies, and none in the USA, have examined the associations between types of ART procedures and parental infertility diagnoses with autism among ART-conceived children. STUDY DESIGN, SIZE, DURATION: Population-based retrospective cohort study using linkages between National ART Surveillance System (NASS) data for 1996-2006, California Birth Certificate data for 1997-2006, and California Department of Developmental Services (DDS) Autism Caseload data for 1997-2011. PARTICIPANTS/MATERIALS, SETTING, METHODS: All live born ART-conceived infants born in California in 1997-2006 (n = 42 383) with 5-year observation period were included in the study. We assessed the annual incidence of autism diagnosis documented in DDS, which includes information on the vast majority of persons with autism in California, and the association of autism diagnosis with ART treatment factors and infertility diagnoses. MAIN RESULTS AND THE ROLE OF CHANCE: Among ART-conceived singletons born in California between 1997 and 2006, the incidence of autism diagnosis remained at approximately 0.8% (P for trend 0.19) and was lower with parental diagnosis of unexplained infertility (adjusted hazard risk ratio [aHRR]; 95% confidence interval: 0.38; 0.15-0.94) and higher when ICSI was used (aHRR 1.65; 1.08-2.52), when compared with cases without these patient and treatment characteristics. Among ART-conceived multiples, the incidence of autism diagnosis between 1997 and 2006 remained at approximately 1.2% (P for trend 0.93) and was lower with parental diagnosis of tubal factor infertility (aHRR 0.56; 0.35-0.90) and higher when ICSI was used (aHRR 1.71; 1.10-2.66). LIMITATIONS, REASONS FOR CAUTION: Study limitations include imperfect data linkages, lack of data on embryo quality and possible underestimation of autism diagnosis cases. Limitations of the observational study design could affect the analysis by the possibility of residual confounders. Since information about ICSI use was missing for most frozen/thawed embryo transfer cycles, our findings of association of ICSI use and autism diagnosis can only be generalizable to fresh embryo transfer cycles. WIDER IMPLICATIONS OF THE FINDINGS: Our study provides additional evidence of the association between some types of ART procedures with autism diagnosis. Additional research is required to explain the increased risk of autism diagnosis with ICSI use, as well as studies on the effectiveness and safety of ICSI. STUDY FUNDING/COMPETING INTERESTS: The study was partially supported by the National Institutes of Health. The authors have no competing interests that may be relevant to the study.
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10. Memari AH, Ghanouni P, Shayestehfar M, Ghaheri B. {{Postural control impairments in individuals with autism spectrum disorder: a critical review of current literature}}. {Asian J Sports Med}. 2014; 5(3): e22963.
CONTEXT: Motor impairments in individuals with autism spectrum disorder (ASD) have been frequently reported. In this review, we narrow our focus on postural control impairments to summarize current literature for patterns, underlying mechanisms, and determinants of posture in this population. EVIDENCE ACQUISITION: A literature search was conducted through Medline, ISI web of Knowledge, Scopus and Google Scholar to include studies between 1992 and February 2013. RESULTS: Individuals with ASD have problems in maintaining postural control in infancy that well persists into later years. However, the patterns and underlying mechanisms are still unclear. CONCLUSIONS: Examining postural control as an endophenotype or early diagnostic marker of autism is a conceptual premise which should be considered in future investigations. At the end of the review, methodological recommendations on the assessment of postural control have also been provided.
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11. Raz R, Roberts AL, Lyall K, Hart JE, Just AC, Laden F, Weisskopf MG. {{Autism Spectrum Disorder and Particulate Matter Air Pollution before, during, and after Pregnancy: A Nested Case-Control Analysis within the Nurses’ Health Study II Cohort}}. {Environ Health Perspect}. 2014.
BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder with increasing prevalence worldwide, yet with unclear etiology. OBJECTIVE: To explore the association between maternal exposure to particulate matter (PM) air pollution and odds of ASD in her child. METHODS: We conducted a nested case-control study of participants in the Nurses’ Health Study II (NHS II), a prospective cohort of 116,430 US female nurses recruited in 1989, followed by biennial mailed questionnaires. Subjects were NHS II participants’ children born 1990-2002 with ASD (n=245), and children without ASD (n=1522) randomly selected using frequency matching for birth years. ASD was based on maternal report, which was validated against the Autism Diagnostic Interview-Revised in a subset. Monthly averages of PM with diameters </=2.5 microm (PM2.5) and 2.5-10 microm (PM10-2.5) were predicted from a spatiotemporal model for the continental US and linked to residential addresses. RESULTS: PM2.5 exposure during pregnancy was associated with increased odds of ASD, with an adjusted odds ratio (OR) for ASD per interquartile range higher PM2.5 (4.42 microg/m3) of 1.57 (95% CI: 1.22, 2.03) among women with the same address before and after pregnancy (160 cases, 986 controls). Associations with PM2.5 exposure 9 months before or after the pregnancy were weaker in independent models and null when all three time periods were included, while the association with the 9 months of pregnancy remained (OR=1.63; 95% CI: 1.08-2.47). The association between ASD and PM2.5 was stronger for exposure during the third trimester (OR=1.42 per inter-quartile range increase in PM2.5, 95% CI: 1.09, 1.86) than other trimesters (ORs 1.06 and 1.00) when mutually adjusted. There was little association between PM10-2.5 and ASD. CONCLUSIONS: Higher maternal exposure to PM2.5 during pregnancy, in particular the third trimester, was associated with greater odds of her child having ASD.
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12. Sasaki M. {{SPECT findings in autism spectrum disorders and medically refractory seizures}}. {Epilepsy Behav}. 2014.
A high rate of seizures and electroencephalogram abnormalities has been noted in individuals with autism spectrum disorders (ASDs). Common underlying neurodevelopmental abnormalities may exist in the brains of individuals with both ASDs and epilepsy. Single-photon emission computed tomography (SPECT) studies of the brain have provided sensitive brain function findings. Such studies often reveal not only localized areas of hyperperfusion, which could be related to the seizure-onset zone, but also localized areas of hypoperfusion that may correlate with the focal reductions in function observed in the prefrontal lobes, cingulate gyrus, superior temporal gyrus, and mesial temporal lobes of many individuals with both ASDs and epilepsy. The focal neuronal dysfunction revealed by SPECT could be caused by aberrant neuronal connectivity. This article is part of a Special Issue entitled « Autism and Epilepsy ».
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13. Shmaya Y, Eilat-Adar S, Leitner Y, Reif S, Gabis L. {{Nutritional deficiencies and overweight prevalence among children with autism spectrum disorder}}. {Res Dev Disabil}. 2014; 38C: 1-6.
Children with autism spectrum disorder (ASD) are at risk of developing nutritional deviations. Three to six year old children with ASD were compared to their typically developing siblings and to a typically developing age and gender matched control group, in order to evaluate their intake and body mass index. Nutrient intake was compared to the Dietary Reference Intake using three-day diet diaries completed by the parents. The sum percentage of nutritional deficiencies in the ASD group compared to the typical development group was 342.5% (+/-122.9%) vs. 275.9% (+/-106.8%), respectively (P=0.026). A trend toward higher deficiency in the ASD group was observed as compared to the sibling group 363% (+/-122.9%) vs. 283.2% (+/-94.7%) (P=0.071). A higher body mass index was found in the ASD group compared to their counterparts, despite their nutritional deficiencies. In conclusion, children with ASD are more likely to suffer from nutritional deficiencies despite higher body mass index.
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14. Spinelli L, Black FM, Berg JN, Eickholt BJ, Leslie NR. {{Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes}}. {J Med Genet}. 2014.
BACKGROUND: Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and autism, but any genotype-phenotype relationships are poorly understood. METHODS: We have studied the functional consequences of seven PTEN mutations identified in patients diagnosed with autism and macrocephaly and five mutations from severe tumour bearing sufferers of PTEN hamartoma tumour syndrome (PHTS). RESULTS: All seven autism-associated PTEN mutants investigated retained the ability to suppress cellular AKT signalling, although five were highly unstable. Observed effects on AKT also correlated with the ability to suppress soma size and the length and density of dendritic spines in primary neurons. Conversely, all five PTEN mutations from severe cases of PHTS appeared to directly and strongly disrupt the ability to inhibit AKT signalling. CONCLUSIONS: Our work implies that alleles causing incomplete loss of PTEN function are more commonly linked to autism than to severe PHTS cases.
