1. {{Common genetic variants linked with large percentage of autism risk: Study finds spontaneous mutations are less-significant risk factors}}. {Am J Med Genet A};2014 (Nov);164(11):vii-viii.
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2. Bergstrom R, Najdowski AC, Tarbox J. {{A systematic replication of teaching children with autism to respond appropriately to lures from strangers}}. {J Appl Behav Anal};2014 (Oct 19)
We evaluated the effects of behavioral skills training in the home for teaching children with autism to abstain from going with strangers and immediately inform a familiar adult of the stranger’s attempt to lure them in the natural environment. All participants learned to respond correctly to lures in the home and demonstrated concomitant changes in untrained natural settings. In situ training and an added incentive were necessary for 1 participant.
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3. Falck-Ytter T, Thorup E, Bolte S. {{Brief Report: Lack of Processing Bias for the Objects Other People Attend to in 3-Year-Olds with Autism}}. {J Autism Dev Disord};2014 (Oct 21)
Whether gaze following-a key component of joint attention-is impaired in children with autism spectrum disorder (ASD) is currently debated. Functional gaze following involves saccading towards the attended rather than unattended targets (accuracy) as well as a subsequent processing bias for attended objects. Using non-invasive eye tracking technology, we show that gaze following accuracy is intact in intellectually low-functioning 3-year-olds with ASD. However, analyses of the duration of first fixations at the objects in the scene revealed markedly weaker initial processing bias for attended objects in children with ASD compared to children with typical development and non-autistic children with developmental delays. Limited processing bias for the objects other people attend to may negatively affect learning opportunities in ASD.
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4. Hussain R, Tait K. {{Parental perceptions of information needs and service provision for children with developmental disabilities in rural Australia}}. {Disabil Rehabil};2014 (Oct 21):1-8.
Abstract Purpose: Rural Australians comprise a third of the population. However, there are relatively few research studies that have focused on issues for children with developmental disabilities in rural regions. In particular, there is very limited research that gives voice to parents regarding challenges faced by them due to their location in rural regions. Methods: This article is based on the qualitative component of a mixed-methods study undertaken in rural settings. In-depth, face-to-face interviews were conducted with 17 parents yielding 30 h of information rich taped data. Thematic analysis techniques were used to identify major issues. Results: Three core themes emerged from analysis of the qualitative data regarding information and support needs: an ongoing lack of timely and relevant information about disabilities and support services; inadequacies in interactions with service providers particularly doctors and allied health staff; and considerable challenges and barriers to access and use of health services. Conclusions: Within the constraints of limited rural service provision, there are still opportunities for considerable improvements, through focussed in-service training to narrow the information gap, improve provider-client interaction around attitudinal issues and uptake of tele-health to minimise the long waiting times and the need to regularly travel long distances to access services and setting up online support groups. Implications for Rehabilitation There is limited information on challenges faced by parents of children with developmental disabilities in rural Australia. The challenges around lack of information about support systems available add to parental stress as does limited experience, frequent staff turnover and poor attitude of many service providers. There is a need to improve rural service provision. Feasible options within resource constraints include focussed in-service training to narrow the information gap, improve provider-client interaction around attitudinal issues, and uptake of tele-health services. Setting up of parent-professional support groups as well peer support groups using digital technologies will help reduce the sense of isolation for rural carers and minimise impediments related to travelling long distances.
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5. Knight VF, Sartini E. {{A Comprehensive Literature Review of Comprehension Strategies in Core Content Areas for Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Oct 21)
Understanding text can increase access to educational, vocational, and recreational activities for individuals with autism spectrum disorder (ASD); however, limited research has been conducted investigating instructional practices to remediate or compensate for these comprehension challenges. The current comprehensive literature review expanded previous reviews and evaluated research quality using Reichow (Evidence-based practices and treatments for children with autism, pp 25-39. doi: 10.1007/978-1-4419-6975-0_2 , 2011) criteria for identifying evidence-based practices. Three questions guided the review: (a) Which approaches to comprehension instruction have been investigated for students with ASD?; (b) Have there been a sufficient number of acceptable studies using a particular strategy to qualify as an evidence-based practice for teaching comprehension across the content areas?; and (c) What can educators learn from the analysis of high quality studies? Of the 23 studies included in the review, only 13 achieved high or adequate ratings. Results of the review suggest that both response-prompting procedures (e.g., model-lead-test, time delay, system of least prompts,) and visual supports (e.g., procedural facilitators) can increase comprehension skills in content areas of ELA, math, and science. Authors conclude with a discussion of (a) research-based examples of how to use effective approaches, (b) implications for practitioners, and (c) limitations and future research.
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6. Kuo MH, Magill-Evans J, Zwaigenbaum L. {{Parental mediation of television viewing and videogaming of adolescents with autism spectrum disorder and their siblings}}. {Autism};2014 (Oct 21)
Adolescents with autism spectrum disorder spend considerable time in media activities. Parents play an important role in shaping adolescents’ responses to media. This study explored the mediation strategies that parents of adolescents with autism spectrum disorder used to manage television and video game use, factors associated with their use of different strategies, and whether mediation strategies changed over time. A secondary purpose was to examine whether parents applied different mediation strategies to adolescents with autism spectrum disorder versus siblings, and the factors that created stress related to managing media use. Parents of 29 adolescents with autism spectrum disorder and 16 siblings completed questionnaires at two time points. Parents most frequently supervised their television viewing by watching it with the adolescents, and used restrictive strategies to regulate their videogaming. Parents used similar strategies for siblings, but more frequently applied restrictive and instructive strategies for videogaming with adolescents with autism spectrum disorder than their siblings. Restrictive mediation of television viewing for the adolescents decreased significantly over the year. Adolescents’ time spent in media activities, age, and behavior problems, and parents’ concerns about media use were significant factors associated with the strategies that parents employed. Parents’ stress related to the adolescents’ behavioral and emotional responses to parental restrictions.
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7. Lake JK, Weiss JA, Dergal J, Lunsky Y. {{Child, Parent, and Service Predictors of Psychotropic Polypharmacy Among Adolescents and Young Adults with an Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2014 (Oct 20)
Abstract Objective: This study examined the child, parent, and service factors associated with polypharmacy in adolescents and young adults with autism spectrum disorders (ASD). Methods: As part of an online survey examining health service utilization patterns among individuals with ASD, parents provided demographic and clinical information pertaining to their child. This included information on current medication use, as well as information on clinical services received, clinical history, and parent well-being. Analyses examined the bivariate association between individual child, parent, and service variables and polypharmacy. Variables significantly associated with polypharmacy were included in a multiple variable logistic regression. Results: Of the 363 participants sampled, approximately 25% were receiving two or more psychotropic drugs concurrently. The patient’s psychiatric comorbidity, history of hurting others, therapy use, and parent burden were predictors of polypharmacy. Conclusions: Adolescents and young adults with ASD are a highly medicated population with multiple factors associated with psychotropic polypharmacy. Although there may be circumstances in which polypharmacy is necessary, a richer understanding of what predicts polypharmacy may lead to targeted interventions to better support these individuals and their families. Findings also highlight the need to support families of children with ASD prescribed multiple psychotropic medications.
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8. Morgan JT, Barger N, Amaral DG, Schumann CM. {{Stereological study of amygdala glial populations in adolescents and adults with autism spectrum disorder}}. {PLoS One};2014;9(10):e110356.
The amygdala undergoes aberrant development in autism spectrum disorder (ASD). We previously found that there are reduced neuron numbers in the adult postmortem amygdala from individuals with ASD compared to typically developing controls. The current study is a comprehensive stereological examination of four non-neuronal cell populations: microglia, oligodendrocytes, astrocytes, and endothelial cells, in the same brains studied previously. We provide a detailed neuroanatomical protocol for defining each cell type that may be applied to other studies of the amygdala in neurodevelopmental and psychiatric disorders. We then assess whether cell numbers and average volumes differ between ASD and typically developing brains. We hypothesized that a reduction in neuron numbers in ASD might relate to altered immune function and/or aberrant microglial activation, as indicated by increased microglial number and cell body volume. Overall, average non-neuronal cell numbers and volumes did not differ between ASD and typically developing brains. However, there was evident heterogeneity within the ASD cohort. Two of the eight ASD brains displayed strong microglial activation. Contrary to our original hypothesis, there was a trend toward a positive correlation between neuronal and microglial numbers in both ASD and control cases. There were fewer oligodendrocytes in the amygdala of adult individuals with ASD ages 20 and older compared to typically developing controls. This finding may provide a possible sign of altered connectivity or impaired neuronal communication that may change across the lifespan in ASD.
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9. Reese RM, Jamison TR, Braun M, Wendland M, Black W, Hadorn M, Nelson EL, Prather C. {{Brief Report: Use of Interactive Television in Identifying Autism in Young Children: Methodology and Preliminary Data}}. {J Autism Dev Disord};2014 (Oct 21)
Children living in rural and underserved areas experience decreased access to health care services and are often diagnosed with autism at a later age compared to those living in urban or suburban areas. This study examines the utility and validity of an ASD assessment protocol conducted via video conferencing (VC). Participants (n = 17) included families with young children (2.5-6 years) requesting an evaluation for ASD in an interdisciplinary clinic. We randomly assigned families to complete an additional evaluation either in-person or via VC prior to their clinic appointment and compared diagnostic impressions to their interdisciplinary clinic evaluation. Results demonstrate excellent inter-rater agreement on diagnoses between clinicians in the VC setting and the interdisciplinary team, which suggests VC may be a viable method to increase access to autism diagnostic services, and ultimately early intervention, for families in rural and underserved areas.
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10. Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM, Perlis RH, Daly MJ. {{Autism spectrum disorder severity reflects the average contribution of de novo and familial influences}}. {Proc Natl Acad Sci U S A};2014 (Oct 21);111(42):15161-15165.
Autism spectrum disorders (ASDs) are a highly heterogeneous group of conditions-phenotypically and genetically-although the link between phenotypic variation and differences in genetic architecture is unclear. This study aimed to determine whether differences in cognitive impairment and symptom severity reflect variation in the degree to which ASD cases reflect de novo or familial influences. Using data from more than 2,000 simplex cases of ASD, we examined the relationship between intelligence quotient (IQ), behavior and language assessments, and rate of de novo loss of function (LOF) mutations and family history of broadly defined psychiatric disease (depressive disorders, bipolar disorder, and schizophrenia; history of psychiatric hospitalization). Proband IQ was negatively associated with de novo LOF rate (P = 0.03) and positively associated with family history of psychiatric disease (P = 0.003). Female cases had a higher frequency of sporadic genetic events across the severity distribution (P = 0.01). High rates of LOF mutation and low frequencies of family history of psychiatric illness were seen in individuals who were unable to complete a traditional IQ test, a group with the greatest degree of language and behavioral impairment. These analyses provide strong evidence that familial risk for neuropsychiatric disease becomes more relevant to ASD etiology as cases become higher functioning. The findings of this study reinforce that there are many routes to the diagnostic category of autism and could lead to genetic studies with more specific insights into individual cases.
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11. Sinha P, Kjelgaard MM, Gandhi TK, Tsourides K, Cardinaux AL, Pantazis D, Diamond SP, Held RM. {{Autism as a disorder of prediction}}. {Proc Natl Acad Sci U S A};2014 (Oct 21);111(42):15220-15225.
A rich collection of empirical findings accumulated over the past three decades attests to the diversity of traits that constitute the autism phenotypes. It is unclear whether subsets of these traits share any underlying causality. This lack of a cohesive conceptualization of the disorder has complicated the search for broadly effective therapies, diagnostic markers, and neural/genetic correlates. In this paper, we describe how theoretical considerations and a review of empirical data lead to the hypothesis that some salient aspects of the autism phenotype may be manifestations of an underlying impairment in predictive abilities. With compromised prediction skills, an individual with autism inhabits a seemingly « magical » world wherein events occur unexpectedly and without cause. Immersion in such a capricious environment can prove overwhelming and compromise one’s ability to effectively interact with it. If validated, this hypothesis has the potential of providing unifying insights into multiple aspects of autism, with attendant benefits for improving diagnosis and therapy.
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12. Spek AA. {{[The influence of genes and environment on the development of autism spectrum disorders]}}. {Tijdschr Psychiatr};2014;56(10):660-667.
BACKGROUND: Autism spectrum disorders (asd) occur in 0,6% of the general population. On the basis of research in the 70s, 80s and 90s many experts came to the conclusion that asd were in fact genetically determined and were linked only slightly to environmental factors. Recent research, however, indicates that environmental factors really do play an important role.<br/> AIM: To describe and identify the main trends in current research into the causes of asd.<br/> METHOD: The literature was studied with the help of Medline, Cochrane, Web of Science and ScienceDirect.<br/> RESULTS: Recent studies indicate that there is an underlying genetic cause in 35 to 60% of the cases of asd. Environmental factors play a greater role than previously thought and trigger the development of asd in people with a genetic vulnerability to asd. Not only is there evidence of risk factors for asd, but there is also evidence that certain factors protect against asd, for instance the use of folic acid before and during pregnancy.<br/> CONCLUSION: asd are probably related to a combination of gene mutations and environmental factors and to the interactions between the two. Further research is needed into the genetic and environmental causes of asd.
13. Staal W. {{[Genes, environment and autism spectrum disorders]}}. {Tijdschr Psychiatr};2014;56(10):668-669.
14. Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. {{CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors}}. {Proc Natl Acad Sci U S A};2014 (Oct 21);111(42):E4468-4477.
Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis. We explored the transcriptional networks that CHD8 regulates in neural progenitor cells (NPCs) by reducing its expression and then integrating transcriptome sequencing (RNA sequencing) with genome-wide CHD8 binding (ChIP sequencing). Suppressing CHD8 to levels comparable with the loss of a single allele caused altered expression of 1,756 genes, 64.9% of which were up-regulated. CHD8 showed widespread binding to chromatin, with 7,324 replicated sites that marked 5,658 genes. Integration of these data suggests that a limited array of direct regulatory effects of CHD8 produced a much larger network of secondary expression changes. Genes indirectly down-regulated (i.e., without CHD8-binding sites) reflect pathways involved in brain development, including synapse formation, neuron differentiation, cell adhesion, and axon guidance, whereas CHD8-bound genes are strongly associated with chromatin modification and transcriptional regulation. Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development. We also find an intriguing enrichment of cancer-related gene sets among CHD8-bound genes (P < 10(-10)). In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations. These data indicate that heterozygous disruption of CHD8 precipitates a network of gene-expression changes involved in neurodevelopmental pathways in which many ASD-associated genes may converge on shared mechanisms of pathogenesis.
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15. Takara K, Kondo T. {{Comorbid atypical autistic traits as a potential risk factor for suicide attempts among adult depressed patients: a case-control study}}. {Ann Gen Psychiatry};2014;13(1):33.
BACKGROUND: The present study aims to examine if autism spectrum disorder (ASD) is a risk factor for suicide attempts among adult depressed patients and to elucidate the characteristics of suicide attempts in adult depressed patients with ASD. METHODS: We conducted a case-control study. Subjects consisted of 336 retrospectively recruited first-time visit patients to our outpatient clinic with a current major depressive episode; 31 of the 336 patients had attempted suicide. The demographic backgrounds (i.e., age, gender, personal/family history of suicidality); specific psychopathology like bipolarity, agitation, and psychotic features; and comorbidity such as physical diseases, alcohol abuse, cluster B personality disorder, and ASD including pervasive developmental disorder not otherwise specified (PDD-NOS) were examined as potential risk factors for suicide attempts. We compared these variables between the suicide attempters and non-attempters. In addition, we compared suicide attempters to non-attempters within the ASD group and non-ASD group. Binary logistic regression analysis was performed using the significant independent variables from the comparisons between the suicide attempters and non-attempters, and the odds ratios (OR) and 95% confidence intervals (CI) were calculated. RESULTS: Logistic regression analysis demonstrated that agitation during a depressive episode (OR = 7.15, 95% CI = 2.88-17.74), past suicidal behaviors (OR = 4.32, 95% CI =1.70-10.98), and comorbid PDD-NOS (OR = 4.04, 95% CI = 1.20-13.54) were significantly associated with suicide attempts. The most prevalent suicidal method was drug overdose (59.1%) among non-ASD attempters while hanging was the most prevalent (44.4%) in ASD attempters. CONCLUSIONS: Depressed adults with comorbid atypical autistic traits are at higher risk for suicide attempts and may engage in methods that are more lethal.
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16. Warfield ME, Chiri G, Leutz WN, Timberlake M. {{Family well-being in a participant-directed autism waiver program: the role of relational coordination}}. {J Intellect Disabil Res};2014 (Dec);58(12):1091-1104.
BACKGROUND: Massachusetts is one of a very limited number of states exclusively employing participant-direction to deliver autism waiver services to children. A crucial element of this waiver program is the work conducted by the state’s Department of Developmental Services (DDS) staff and state-approved providers with waiver families to facilitate the implementation of the participant-direction model. Our study investigates the effect of the collaboration between state providers and family caregivers on family well-being. METHODS: We conducted a survey of 74 families who have been utilising waiver services for at least 6 months. Participants were asked to rate the coordination with providers as well as to report on parenting stress and impact of waiver services on family functioning. Data from in-home child and family assessments conducted by the state were also abstracted from program records. RESULTS: After controlling for a host of variables hypothesised to affect the outcomes of interest, we found that the family’s view of how well they coordinated with formal providers is significantly associated all of the outcomes. Families who reported greater coordination with state providers experienced lower parenting stress and reported a more positive impact on family functioning. Child externalising behavioural problems and caregiver’s health rating also contributed to parenting stress and family functioning. CONCLUSIONS: Our findings highlight the importance of establishing a collaborative partnership with waiver families in promoting family well-being. These results suggest that training and/or resources that foster team building and communication can positively impact family functioning among families with young children with autism.
