1. Beaudet AL. {{Neuroscience. Preventable forms of autism?}}. {Science};2012 (Oct 19);338(6105):342-343.
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2. Damiano CR, Nahmias A, Hogan-Brown AL, Stone WL. {{What Do Repetitive and Stereotyped Movements Mean for Infant Siblings of Children with Autism Spectrum Disorders?}}. {J Autism Dev Disord};2012 (Oct 19)
Repetitive and stereotyped movements (RSMs) in infancy are associated with later diagnoses of autism spectrum disorder (ASD), yet this relationship has not been fully explored in high-risk populations. The current study investigated how RSMs involving object and body use are related to diagnostic outcomes in infant siblings of children with ASD (Sibs-ASD) and typically developing children (Sibs-TD). The rate and number of different types of RSMs were measured at an average of 15 months with follow-up diagnostic evaluations approximately 18 months later. While Sibs-ASD displayed higher rates of RSMs relative to Sibs-TD, rates did not differ according to diagnostic outcome in Sibs-ASD. However preliminary evidence suggests that qualitative differences in RSM type warrant further investigation as early diagnostic markers.
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3. Guthrie W, Swineford LB, Nottke C, Wetherby AM. {{Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation}}. {J Child Psychol Psychiatry};2012 (Oct 19)
Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. Methods: Stability of diagnosis and Autism Diagnostic Observation Schedule – Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS((R)) Project. Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. Results: Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations, although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e., improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Conclusions: Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations. Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain early patterns of change in symptoms may be characteristic of ASD.
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4. Joshi G, Wozniak J, Petty C, Martelon MK, Fried R, Bolfek A, Kotte A, Stevens J, Furtak SL, Bourgeois M, Caruso J, Caron A, Biederman J. {{Psychiatric Comorbidity and Functioning in a Clinically Referred Population of Adults with Autism Spectrum Disorders: A Comparative Study}}. {J Autism Dev Disord};2012 (Oct 18)
To systematically examine the patterns of psychiatric comorbidity and functioning in clinically referred adults with autism spectrum disorders (ASD). Psychiatrically referred adults with and without ASD were compared on measures assessing for psychiatric comorbidity and psychosocial functioning. Sixty-three adults with ASD participated in the study (mean age: 29 +/- 11 years). Adults with ASD in their lifetime suffered from a higher burden of psychiatric disorders (6 +/- 3.4 vs. 3.5 +/- 2.7; p < 0.001) including major depressive disorder and multiple anxiety disorders, and were functionally more impaired with a significant proportion having received both counseling and pharmacotherapy. Adults with ASD have high levels of psychiatric comorbidity and dysfunction comparable to a clinically referred population of adults without ASD.
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5. Kalkman HO. {{A review of the evidence for the canonical Wnt pathway in autism spectrum disorders}}. {Mol Autism};2012 (Oct 19);3(1):10.
ABSTRACT: Microdeletion and microduplication copy number variations are found in patients with autism spectrum disorder and in a number of cases they include genes that are involved in the canonical Wnt signaling pathway (for example, FZD9, BCL9 or CDH8). Association studies investigating WNT2, DISC1, MET, DOCK4 or AHI1 also provide evidence that the canonical Wnt pathway might be affected in autism. Prenatal medication with sodium-valproate or antidepressant drugs increases autism risk. In animal studies, it has been found that these medications promote Wnt signaling, including among others an increase in Wnt2 gene expression. Notably, the available genetic information indicates that not only canonical Wnt pathway activation, but also inhibition seems to increase autism risk. The canonical Wnt pathway plays a role in dendrite growth and suboptimal activity negatively affects the dendritic arbor. In principle, this provides a logical explanation as to why both hypo- and hyperactivity may generate a similar set of behavioral and cognitive symptoms. However, without a validated biomarker to stratify for deviant canonical Wnt pathway activity, it is probably too dangerous to treat patients with compounds that modify pathway activity.
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6. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. {{Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy}}. {Science};2012 (Oct 19);338(6105):394-397.
Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is responsible for phosphorylation-mediated inactivation of the E1alpha subunit of branched-chain ketoacid dehydrogenase (BCKDH). Patients with homozygous BCKDK mutations display reductions in BCKDK messenger RNA and protein, E1alpha phosphorylation, and plasma branched-chain amino acids. Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation. Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.
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7. Plumb AM, Plexico LW. {{Autism Spectrum Disorders: Experience, Training and Confidence Levels of School-Based Speech-Language Pathologists}}. {Lang Speech Hear Serv Sch};2012 (Oct 19)
PURPOSE: To investigate the graduate training experiences of school-based speech-language pathologists (SLPs) working with children with autism spectrum disorders (ASDs). Comparisons were made between recent graduates (post-2006) and pre-2006 graduates to investigate if differences existed in their academic and clinical experiences or their confidence in working with this population. METHOD: A 47-item, web-based, national survey was created to address the purposes of this investigation. Participants were recruited through e-mail and listservs for ASHA special interest divisions 1 (Language, Learning, and Education) and 16 (School-Based Issues). RESULTS: Recent graduates reported a greater amount of graduate coursework relating to ASDs than pre-2006 graduates. However, the pre-2006 graduates reported significantly greater confidence in the areas of counseling parents of children who exhibit « red flags » of ASDs and addressing social communication, as well as literacy and academics in intervention. CONCLUSIONS: Results of the current survey indicated an increase in the amount of pre-professional training that SLPs receive relating to ASDs. Nonetheless, the majority reported that they could have benefitted from additional clinical experience and training working with children with ASDs. The greater degree of confidence reported by the pre-2006 graduates highlights the importance of experience and continuing education for professionals in the field.
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8. Reichow B, Barton EE, Boyd BA, Hume K. {{Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD)}}. {Cochrane Database Syst Rev};2012;10:CD009260.
BACKGROUND: The rising prevalence of autism spectrum disorders (ASD) increases the need for evidence-based behavioral treatments to lessen the impact of symptoms on children’s functioning. At present, there are no curative or psychopharmacological therapies to effectively treat all symptoms of the disorder. Early intensive behavioral intervention (EIBI), a treatment based on the principles of applied behavior analysis delivered for multiple years at an intensity of 20 to 40 hours per week, is one of the more well-established treatments for ASD. OBJECTIVES: To systematically review the evidence for the effectiveness of EIBI in increasing the functional behaviors and skills of young children with ASD. SEARCH METHODS: We searched the following databases on 22 November 2011: CENTRAL (2011 Issue 4), MEDLINE (1948 to November Week 2, 2011), EMBASE (1980 to Week 46, 2011), PsycINFO (1806 to November Week 3, 2011), CINAHL (1937 to current), ERIC (1966 to current), Sociological Abstracts (1952 to current), Social Science Citation Index (1970 to current), WorldCat, metaRegister of Controlled Trials, and Networked Digital Library of Theses and Dissertations. We also searched the reference lists of published papers. SELECTION CRITERIA: Randomized control trials (RCTs), quasi-randomized control trials, or clinical control trials (CCTs) in which EIBI was compared to a no-treatment or treatment-as-usual control condition. Participants must have been less than six years of age at treatment onset and assigned to their study condition prior to commencing treatment. DATA COLLECTION AND ANALYSIS: Two authors independently selected and appraised studies for inclusion and assessed the risk of bias in each included study. All outcome data were continuous, from which standardized mean difference effect sizes with small sample correction were calculated. We conducted random-effects meta-analysis where possible, which means we assumed individual studies would provide different estimates of treatment effects. MAIN RESULTS: One RCT and four CCTs with a total of 203 participants were included. Reliance on synthesis from four CCTs limits the evidential base and this should be borne in mind when interpreting the results. All studies used a treatment-as-usual comparison group. We synthesized the results of the four CCTs using a random-effects model of meta-analysis of the standardized mean differences. Positive effects in favor of the EIBI treatment group were found for all outcomes. The mean effect size for adaptive behavior was g = 0.69 (95% CI 0.38 to 1.01; P < 0.0001). The mean effect size for IQ was g = 0.76 (95% CI 0.40 to 1.11; P < 0.0001). Three measures of communication and language skills all showed results in favor of EIBI: expressive language g = 0.50 (95% CI 0.05 to 0.95; P = 0.03), receptive language g = 0.57 (95% CI 0.20 to 0.94; P = .03), and daily communication skills g = 0.74 (95% CI 0.30 to 1.18; P = 0.0009). The mean effect size for socialization was g = 0.42 (95% CI 0.11 to 0.73; P = 0.0008), and for daily living skills was g = 0.55 (95% CI 0.24 to 0.87; P = 0.0005). Additional descriptive analyses of other aspects related to quality of life and psychopathology are presented. However, due to the inclusion of non-randomized studies, there is a high risk of bias and the overall quality of evidence was rated as ‘low’ using the GRADE system, which rates the quality of evidence from meta-analyses to determine recommendations for practice. AUTHORS’ CONCLUSIONS: There is some evidence that EIBI is an effective behavioral treatment for some children with ASD. However, the current state of the evidence is limited because of the reliance on data from non-randomized studies (CCTs) due to the lack of RCTs. Additional studies using RCT research designs are needed to make stronger conclusions about the effects of EIBI for children with ASD.
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9. Shivers CM, Deisenroth LK, Taylor JL. {{Patterns and Predictors of Anxiety Among Siblings of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Oct 18)
The purpose of this study was to examine patterns of anxiety among siblings of children with autism spectrum disorders (ASD), and determine the characteristics of the child with ASD and their parents that predicted anxiety. Data was collected from 1,755 siblings of children with ASD whose families participated in the Simons Simplex Collection; siblings ranged in age from 3 to 18 years (M = 9 years). Male siblings were at increased risk for sub-clinical anxiety problems during middle childhood. Parental history of anxiety disorders, higher maternal pragmatic language, and more proband behavior problems predicted higher anxiety. While siblings overall did not show elevated anxiety symptoms, higher rates of sub-clinical anxiety problems among males and siblings in middle childhood are cause for concern.
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10. Visser JC, Rommelse N, Vink L, Schrieken M, Oosterling IJ, van der Gaag RJ, Buitelaar JK. {{Narrowly Versus Broadly Defined Autism Spectrum Disorders: Differences in Pre- and Perinatal Risk Factors}}. {J Autism Dev Disord};2012 (Oct 18)
This study examined the differential contribution of pre- and perinatal risks in narrowly versus broadly defined autism spectrum disorder (ASD) and across core symptom domains, IQ and co-morbid problems. Children with a DSM-IV diagnosis of autistic disorder (AD) (n = 121) or pervasive developmental disorder not otherwise specified (PDD-NOS) (n = 75) were compared to a typical control sample (n = 311). Diagnoses were based on extensive assessments between 12 and 49 months of age (M = 33.3, SD = 6.4) and re-evaluated at 43-98 months (M = 68.1, SD = 10.7) in 70 % of the cases. Compared with controls, cases with ASD were more likely to be firstborn and show a suboptimal condition after birth. Case mothers reported more infections and more stress during pregnancy. Although the ASD subgroups showed mostly overlapping risks, cases with PDD-NOS differed from those with AD by higher exposure to smoking during pregnancy (SDP) and by a negative association of smoking with IQ, regardless of confounders. SDP appears to contribute more to broadly defined (PDD-NOS) than to narrowly defined ASD (AD). Findings suggest differences in etiological contributors between ASD phenotypes.
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11. Wilson KP. {{Incorporating Video Modeling into School-Based Intervention for Students with Autism Spectrum Disorders}}. {Lang Speech Hear Serv Sch};2012 (Oct 19)
PURPOSE: Video modeling is an intervention strategy that has been shown to be effective in improving the social and communication skills of students with autism spectrum disorders, or ASD. The purpose of this tutorial is to outline empirically supported, step-by-step instructions for the use of video modeling by school-based SLPs serving students with ASD. METHOD: This tutorial draws from the many reviews and meta-analyses of the video modeling literature conducted over the past decade, presenting empirically supported considerations for school-based SLPs planning to incorporate video modeling into their service delivery for students with ASD. The five overarching procedural phases presented in this tutorial are: (1) preparation; (2) recording the video model; (3) implementing the video modeling intervention; (4) monitoring the student’s response to the intervention; and (5) planning next steps. Conclusions/Implications Video modeling is not only a promising intervention strategy for students with ASD, but it is also a practical and efficient tool, well-suited to the school setting. This tutorial will facilitate school-based SLPs’ incorporation of this empirically supported intervention into their existing strategies for intervention.
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12. Yakubova G, Taber-Doughty T. {{Brief Report: Learning Via the Electronic Interactive Whiteboard for Two Students with Autism and a Student with Moderate Intellectual Disability}}. {J Autism Dev Disord};2012 (Oct 19)
The effects of a multicomponent intervention (a self-operated video modeling and self-monitoring delivered via an electronic interactive whiteboard (IWB) and a system of least prompts) on skill acquisition and interaction behavior of two students with autism and one student with moderate intellectual disability were examined using a multi-probe across students design. Students were taught to operate and view video modeling clips, perform a chain of novel tasks and self-monitor task performance using a SMART Board IWB. Results support the effectiveness of a multicomponent intervention in improving students’ skill acquisition. Results also highlight the use of this technology as a self-operated and interactive device rather than a traditional teacher-operated device to enhance students’ active participation in learning.
