1. Gadow KD, Pinsonneault JK, Perlman G, Sadee W. {{Association of dopamine gene variants, emotion dysregulation and ADHD in autism spectrum disorder}}. {Res Dev Disabil}. 2014; 35(7): 1658-65.
The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD). Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3′-UTR 9/10 VNTR, rs27072 in the 3′-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on a priori evidence of regulatory activity or, in the case of DAT1 9/10 VNTR, commonly reported associations with ADHD. A sample of 110 children with ASD was assessed with a rigorously validated DSM-IV-referenced rating scale. Global EMD severity (parents’ ratings) was associated with DAT1 intron8 (etap2=.063) and rs2283265 (etap2=.044). Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (etap2=.065) and depression (etap2=.059), and for DRD2 rs2283265, depression (etap2=.053). DRD2 rs2283265 was associated with teachers’ global ratings of ADHD (etap2=.052). DAT1 intron8 was associated with parent-rated hyperactivity (etap2=.045) and both DAT1 9/10 VNTR (etap2=.105) and DRD2 rs2283265 (etap2=.069) were associated with teacher-rated inattention. These findings suggest that dopaminergic gene polymorphisms may modulate EMD and ADHD symptoms in children with ASD but require replication with larger independent samples.
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2. Garcia-Albea E, Reeve SA, Brothers KJ, Reeve KF. {{Using audio script fading and multiple-exemplar training to increase vocal interactions in children with autism}}. {J Appl Behav Anal}. 2014.
Script-fading procedures have been shown to be effective for teaching children with autism to initiate and participate in social interactions without vocal prompts from adults. In previous script and script-fading research, however, there has been no demonstration of a generalized repertoire of vocal interactions under the control of naturally occurring relevant stimuli. In this study, 4 boys with autism were taught to initiate a conversation in the presence of toys through the use of a script and script-fading procedure. Training with multiple categories and exemplars of toys was used to increase the likelihood of generalization of vocal interactions across novel toys. A multiple-probe design across participants was used to assess the effects of these procedures. The intervention successfully brought interactions by children with autism under the control of relevant stimuli in the environment. Future research pertaining to the specific implementation of these procedures (e.g., fading, script placement, participant characteristics) is discussed.
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3. Macdonald M, Lord C, Ulrich DA. {{Motor skills and calibrated autism severity in young children with autism spectrum disorder}}. {Adapt Phys Activ Q}. 2014; 31(2): 95-105.
In addition to the core characteristics of autism spectrum disorder (ASD), motor skill deficits are present, persistent, and pervasive across age. Although motor skill deficits have been indicated in young children with autism, they have not been included in the primary discussion of early intervention content. One hundred fifty-nine young children with a confirmed diagnosis of ASD (n = 110), PDD-NOS (n = 26), and non-ASD (n = 23) between the ages of 14-33 months participated in this study.1 The univariate general linear model tested the relationship of fine and gross motor skills and social communicative skills (using calibrated autism severity scores). Fine motor and gross motor skills significantly predicted calibrated autism severity (p < .05). Children with weaker motor skills have greater social communicative skill deficits. Future directions and the role of motor skills in early intervention are discussed.
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4. Magana S, Li H, Miranda E, Paradiso de Sayu R. {{Improving health behaviours of Latina mothers of youths and adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Latina mothers who care for children with intellectual and developmental disabilities (IDD) over the lifespan struggle to take care of their own health needs in the context of their caregiving experience. Services are typically aimed at the persons with IDD and not their family caregivers. Yet, attending to family caregiver needs may contribute to better long-term care of persons with IDD who remain at home. To address this unmet need, we developed a culturally sensitive health education intervention for Latina mothers who care for youth and adults with IDD. The aim of the intervention is to improve maternal health-related self-efficacy and health behaviours, and to reduce stress. METHOD: A randomised control design was employed to determine preliminary efficacy of the intervention. Paired sample t-tests were conducted to examine within-group changes from baseline to 3-month post-test. Repeated-measures analysis of covariance was used to examine the group-by-time interaction effects. RESULTS: Intervention participants showed greater increases between pre- and post-test in health-related self-efficacy; self-care, nutrition and overall health behaviours. Both groups reported decreases in depressive symptoms and caregiver burden. CONCLUSIONS: While additional research is needed to determine long-term effects and to replicate findings, our results suggest that this culturally sensitive health intervention is a promising way to increase health behaviours which may lead to overall good health for Latina mothers who care for children with IDD across the lifespan.
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5. Siniscalco D, Bradstreet JJ, Sych N, Antonucci N. {{Mesenchymal stem cells in treating autism: Novel insights}}. {World J Stem Cells}. 2014; 6(2): 173-8.
Autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, abnormal to absent verbal communication, restricted interests, and repetitive stereotypic verbal and non-verbal behaviors, influencing the ability to relate to and communicate. The core symptoms of ASDs concern the cognitive, emotional, and neurobehavioural domains. The prevalence of autism appears to be increasing at an alarming rate, yet there is a lack of effective and definitive pharmacological options. This has created an increased sense of urgency, and the need to identify novel therapies. Given the growing awareness of immune dysregulation in a significant portion of the autistic population, cell therapies have been proposed and applied to ASDs. In particular, mesenchymal stem cells (MSCs) possess the immunological properties which make them promising candidates in regenerative medicine. MSC therapy may be applicable to several diseases associated with inflammation and tissue damage, where subsequent regeneration and repair is necessary. MSCs could exert a positive effect in ASDs through the following mechanisms: stimulation of repair in the damaged tissue, e.g., inflammatory bowel disease; synthesizing and releasing anti-inflammatory cytokines and survival-promoting growth factors; integrating into existing neural and synaptic network, and restoring plasticity. The paracrine mechanisms of MSCs show interesting potential in ASD treatment. Promising and impressive results have been reported from the few clinical studies published to date, although the exact mechanisms of action of MSCs in ASDs to restore functions are still largely unknown. The potential role of MSCs in mediating ASD recovery is discussed in light of the newest findings from recent clinical studies.
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6. Werner S, Shulman C. {{Does type of disability make a difference in affiliate stigma among family caregivers of individuals with autism, intellectual disability or physical disability?}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Studies have shown that beyond public and self stigma, stigma can also impact family members. Only scant research has examined the internalised aspects of stigma, known as affiliate stigma, among family caregivers of individuals with disabilities. This study examined affiliate stigma among family caregivers of individuals with developmental disabilities via a comparison between caregivers of individuals with intellectual disabilities (ID), autism spectrum disorders (ASD) and physical disabilities (PD) in Israel. METHODS: Family caregivers (n = 171) of individuals with developmental disabilities, mainly ID (22.4%), ASD (32.9%) and PD (27.1%), completed a self-report structured questionnaire including the Affiliate Stigma Scale and background variables. RESULTS: Results supported a one-factor structure for the Affiliate Stigma Scale. Overall, affiliate stigma was relatively low in this sample, but was found to be higher among caregivers of individuals with ASD when compared with caregivers of individuals with ID or PD. CONCLUSION: Findings from this study point to the importance of supporting caregivers of individuals with ASD to decrease their feelings of stigma. It is also important to further develop scales measuring affiliate stigma in order to capture the multi-dimensional nature of the concept.
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7. Zhang-James Y, Yang L, Middleton FA, Patak J, Faraone SV. {{Autism-related behavioral phenotypes in an Inbred Rat Substrain}}. {Behav Brain Res}. 2014.
Behavioral and genetic differences among Wistar-Kyoto (WKY) rats from different vendors and different breeders have long been observed, but generally overlooked. In our prior work, we found that two closely related WKY substrains, the WKY/NCrl and WKY/NHsd rats, differ in a small percentage of their genome which appeared to be highly enriched for autism risk genes. Although both substrains have been used widely in studies of hypertension, attention deficit/hyperactivity disorder (ADHD) and depression, they have not been tested for any autism-related behavioral phenotypes. Furthermore, these two substrains have often been used interchangeably in previous studies; no study has systematically examined the phenotypic differences that could be attributed by their small yet potentially meaningful genetic differences. In this paper we compared these two substrains on a battery of neurobehavioral tests. Although two substrains were similar in locomotor activity, WKY/NCrl rats were significantly different from WKY/NHsd rats in the elevated plus maze test, as well as measures of social interaction and ultrasonic vocalization. These strains were also compared with Sprague Dawley (SD) rats, a common outbred strain, and spontaneous hypertensive rats (SHR), an inbred rat model for ADHD and hypertension, which were derived from the same ancestor strain as the WKY strains. Our behavioral findings suggest that WKY/NCrl rats may be useful as a model autism spectrum disorders due to their lower social interest, lower ultrasonic vocalization and higher anxiety levels when WKY/NHsd rats are used as the control strain. Given the small genetic difference between the two inbred substrains, future studies to identify the exact gene and sequence variants that differ between the two may be useful for identifying the genetic mechanisms underlying these behaviors.
