1. Bryce CI, Jahromi LB. {{Brief Report: Compliance and Noncompliance to Parental Control Strategies in Children with High-Functioning Autism and Their Typical Peers}}. {J Autism Dev Disord};2012 (Jun 12)
The present study examined children’s compliance and noncompliance behaviors in response to parental control strategies in 20 children with high-functioning autism (HFA) and 20 matched typically-developing children. Observational coding was used to measure child compliance (committed, situational), noncompliance (passive, defiance, self-assertion, negotiation) and parent control strategies (commands, reprimands, positive incentives, reasoning, bargaining) in a clean-up task. Sequential analyses were conducted to identify parent behaviors that temporally predicted child compliance or noncompliance. Children with HFA were significantly more noncompliant and less compliant immediately following parents’ indirect commands than typically-developing children, even after controlling for receptive language. These results add to the existing literature on the efficacy of control strategies for children with autism, and have important implications for caregiver interventions.
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2. de Anda FC, Rosario AL, Durak O, Tran T, Graff J, Meletis K, Rei D, Soda T, Madabhushi R, Ginty DD, Kolodkin AL, Tsai LH. {{Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex}}. {Nat Neurosci};2012 (Jun 10)
How neurons develop their morphology is an important question in neurobiology. Here we describe a new pathway that specifically affects the formation of basal dendrites and axonal projections in cortical pyramidal neurons. We report that thousand-and-one-amino acid 2 kinase (TAOK2), also known as TAO2, is essential for dendrite morphogenesis. TAOK2 downregulation impairs basal dendrite formation in vivo without affecting apical dendrites. Moreover, TAOK2 interacts with Neuropilin 1 (Nrp1), a receptor protein that binds the secreted guidance cue Semaphorin 3A (Sema3A). TAOK2 overexpression restores dendrite formation in cultured cortical neurons from Nrp1(Sema-) mice, which express Nrp1 receptors incapable of binding Sema3A. TAOK2 overexpression also ameliorates the basal dendrite impairment resulting from Nrp1 downregulation in vivo. Finally, Sema3A and TAOK2 modulate the formation of basal dendrites through the activation of the c-Jun N-terminal kinase (JNK). These results delineate a pathway whereby Sema3A and Nrp1 transduce signals through TAOK2 and JNK to regulate basal dendrite development in cortical neurons.
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3. Foley AG, Gannon S, Rombach-Mullan N, Prendergast A, Barry C, Cassidy AW, Regan CM. {{Class I Histone deacetylase inhibition ameliorates social cognition and cell adhesion molecule plasticity Deficits In A rodent model of autism spectrum disorder}}. {Neuropharmacology};2012 (Jun 5)
In utero exposure of rodents to valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, has been proposed to induce an adult phenotype with behavioural characteristics reminiscent of those observed in autism spectrum disorder (ASD). We have evaluated the face validity of this model in terms of social cognition deficits which are a major core symptom of ASD. We employed the social approach avoidance paradigm as a measure of social reciprocity, detection of biological motion that is crucial to social interactions, and spatial learning as an indicator of dorsal stream processing of social cognition and found each parameter to be significantly impaired in Wistar rats with prior in utero exposure to VPA. We found no significant change in the expression of neural cell adhesion molecule polysialylation state (NCAM PSA), a measure of construct validity, but a complete inability to increase its glycosylation state which is necessary to mount the neuroplastic response associated with effective spatial learning. Finally, in all cases, we found chronic HDAC inhibition, with either pan-specific or HDAC1-3 isoform-specific inhibitors, to significantly ameliorate deficits in both social cognition and its associated neuroplastic response. We conclude that in utero exposure to VPA provides a robust animal model for the social cognitive deficits of ASD and a potential screen for the development of novel therapeutics for this condition.
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4. Gordijn B, Ten Have H. {{Ethics of autism}}. {Med Health Care Philos};2012 (Jun 12)
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5. Hazlett HC, Gu H, McKinstry RC, Shaw DW, Botteron KN, Dager SR, Styner M, Vachet C, Gerig G, Paterson SJ, Schultz RT, Estes AM, Evans AC, Piven J. {{Brain Volume Findings in 6-Month-Old Infants at High Familial Risk for Autism}}. {Am J Psychiatry};2012 (Jun 1);169(6):601-608.
OBJECTIVE: Individuals with autism as young as 2 years have been observed to have larger brains than healthy comparison subjects. Studies using head circumference suggest that brain enlargement is a postnatal event that occurs around the latter part of the first year. To the authors’ knowledge, no previous brain imaging studies have systematically examined the period prior to age 2. In this study they used magnetic resonance imaging (MRI) to measure brain volume in 6-month-olds at high familial risk for autism. METHOD: The Infant Brain Imaging Study (IBIS) is a longitudinal imaging study of infants at high risk for autism. This cross-sectional analysis compared brain volumes at 6 months of age in high-risk infants (N=98) and infants without family members with autism (N=36). MRI scans were also examined for radiologic abnormalities RESULTS: No group differences were observed for intracranial, cerebrum, cerebellum, or lateral ventricle volume or for head circumference. CONCLUSIONS: The authors did not observe significant group differences for head circumference, brain volume, or abnormalities in radiologic findings from a group of 6-month-old infants at high risk for autism. The authors are unable to conclude that these abnormalities are not present in infants who later go on to receive a diagnosis of autism; rather, abnormalities were not detected in a large group at high familial risk. Future longitudinal studies of the IBIS study group will examine whether brain volume differs in infants who go on to develop autism.
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6. Jaspers M, de Winter AF, Buitelaar JK, Verhulst FC, Reijneveld SA, Hartman CA. {{Early Childhood Assessments of Community Pediatric Professionals Predict Autism Spectrum and Attention Deficit Hyperactivity Problems}}. {J Abnorm Child Psychol};2012 (Jun 12)
For clinically referred children with Autism Spectrum Disorder (ASD) or Attention Deficit/Hyperactivity Disorder (ADHD) several early indicators have been described. However, knowledge is lacking on early markers of less severe variants of ASD and ADHD from the general population. The aim of the present study is to identify early indicators of high risk groups for ASD and ADHD problems based on routine data from community pediatric services between infancy and age four. Data are from 1,816 participants who take part in Tracking Adolescents’ Individual Lives Survey (TRAILS), a longitudinal study. Information on early developmental factors was extracted from charts of routine Preventive Child Healthcare (PCH) visits. To assess ASD and ADHD problems, respectively, we used the Children’s Social Behavior Questionnaire (CSBQ) and the Child Behavior Checklist (CBCL), filled out by parents three times between the ages of 11 and 17. Note that these are parent ratings and not diagnostic instruments performed by trained clinicians. Male gender, low birth weight, low level of education of the mother, social, behavioral, language, psychomotor and eating problems significantly predicted ASD problems (odds ratios (OR) between 1.34 and 2.41). ADHD problems were also predicted by male gender and low level of education of the mother and by maternal smoking during pregnancy, good gross motor skills in first year, early attention and hyperactivity problems, and absence of parent-reported positive behavior (ORs between 1.36 and 1.74). Routine data on early childhood from PCH services are predictive for ASD and ADHD problems in adolescents in the general population. The PCH services are a useful setting to identify high risk groups, and to monitor them subsequently.
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7. Kaiser MD, Pelphrey KA. {{Disrupted action perception in autism: Behavioral evidence, neuroendophenotypes, and diagnostic utility}}. {Dev Cogn Neurosci};2012 (Jan);2(1):25-35.
Disruptions in the visual perception of biological motion are emerging as a hallmark of autism spectrum disorder (ASD), consistent with the pathognomonic social deficits of this neurodevelopmental disorder. Accumulating evidence suggests an early and marked divergence in ASD from the typical developmental tuning of brain regions to process social information. In this review, we discuss a relatively recent yet substantial literature of behavioral and neuroimaging studies that consistently indicates impairments in biological motion perception in ASD. We then illustrate the fundamental disruption in this form of social perception in autism, drawing connections between a genetic liability to develop autism and disrupted associated brain mechanisms, as we describe neuroendophenotypes of autism derived from an fMRI study of biological motion perception in children with autism and their unaffected siblings. Finally, we demonstrate the diagnostic utility of brain responses to biological motion. With the ability to measure brain function in the first year of life comes the potential to chart the development of disrupted biological motion processing in ASD and to specify the gene-brain-behavior interactions shaping this atypical trajectory. We propose that a comprehensive understanding of the development of impaired responses to biological motion in ASD can inform future diagnosis and treatment approaches.
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8. Ramos PS, Sajuthi S, Langefeld CD, Walker SJ. {{Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder}}. {Mol Autism};2012 (Jun 9);3(1):4.
ABSTRACT: BACKGROUND: A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD. FINDINGS: We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 x 10-06, OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 (JARID2) gene (rs13193457, P = 2.71 x 10-06, OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 x 10-06, OR = 1.46 (1.24- 1.72)). CONCLUSIONS: This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.
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9. Siller SS, Broadie K. {{Matrix metalloproteinases and minocycline: therapeutic avenues for fragile x syndrome}}. {Neural Plast};2012;2012:124548.
Fragile X syndrome (FXS) is the most common known genetic form of intellectual disability and autism spectrum disorders. FXS patients suffer a broad range of other neurological symptoms, including hyperactivity, disrupted circadian activity cycles, obsessive-compulsive behavior, and childhood seizures. The high incidence and devastating effects of this disease state make finding effective pharmacological treatments imperative. Recently, reports in both mouse and Drosophila FXS disease models have indicated that the tetracycline derivative minocycline may hold great therapeutic promise for FXS patients. Both models strongly suggest that minocycline acts on the FXS disease state via inhibition of matrix metalloproteinases (MMPs), a class of zinc-dependent extracellular proteases important in tissue remodeling and cell-cell signaling. Recent FXS clinical trials indicate that minocycline may be effective in treating human patients. In this paper, we summarize the recent studies in Drosophila and mouse FXS disease models and human FXS patients, which indicate that minocycline may be an effective FXS therapeutic treatment, and discuss the data forming the basis for the proposed minocycline mechanism of action as an MMP inhibitor.
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10. Sowell ER, Bookheimer SY. {{Promise for finding brain biomarkers among infants at high familial risk for developing autism spectrum disorders}}. {Am J Psychiatry};2012 (Jun 1);169(6):551-553.
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11. Valicenti-McDermott M, Hottinger K, Seijo R, Shulman L. {{Age at Diagnosis of Autism Spectrum Disorders}}. {J Pediatr};2012 (Jun 9)
Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.
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12. Wagner JB, Hirsch SB, Vogel-Farley VK, Redcay E, Nelson CA. {{Eye-Tracking, Autonomic, and Electrophysiological Correlates of Emotional Face Processing in Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Jun 9)
Individuals with autism spectrum disorder (ASD) often have difficulty with social-emotional cues. This study examined the neural, behavioral, and autonomic correlates of emotional face processing in adolescents with ASD and typical development (TD) using eye-tracking and event-related potentials (ERPs) across two different paradigms. Scanning of faces was similar across groups in the first task, but the second task found that face-sensitive ERPs varied with emotional expressions only in TD. Further, ASD showed enhanced neural responding to non-social stimuli. In TD only, attention to eyes during eye-tracking related to faster face-sensitive ERPs in a separate task; in ASD, a significant positive association was found between autonomic activity and attention to mouths. Overall, ASD showed an atypical pattern of emotional face processing, with reduced neural differentiation between emotions and a reduced relationship between gaze behavior and neural processing of faces.
