1. Bazzano A, Zeldin A, Schuster E, Barrett C, Lehrer D. {{Vaccine-related beliefs and practices of parents of children with autism spectrum disorders}}. {Am J Intellect Dev Disabil}. 2012; 117(3): 233-42.
Abstract Although the assertion of a link between vaccines and autism has been scientifically rejected, the theory continues to be popular and may influence the attitudes of parents of children with autism spectrum disorders. The authors sought to assess how often parents change or discontinue their child’s vaccine schedule after autism spectrum disorder diagnosis and whether beliefs about the etiology of autism affect their decision to do so. The authors surveyed 197 (43%) of 460 eligible parents of children under 18 years of age with autism spectrum disorders who were enrolled in a state-funded agency that provides services to those with developmental disabilities in western Los Angeles County. Half of the parents discontinued or changed vaccination practices, and this was associated with a belief that vaccines contributed to autism spectrum disorders, indicating a potential subset of undervaccinated children. Educational tools should be designed to assist physicians when talking to parents of children with autism spectrum disorders about vaccination.
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2. Gandal MJ, Anderson RL, Billingslea EN, Carlson GC, Roberts TP, Siegel SJ. {{Mice with reduced NMDA receptor expression: more consistent with autism than schizophrenia?}}. {Genes Brain Behav}. 2012; 9999(999A).
Reduced NMDA-receptor (NMDAR) function has beenimplicated in the pathophysiology of neuropsychiatric disease, most strongly in schizophrenia but also recently in autism spectrum disorders (ASD). To determinethe direct contribution of NMDAR dysfunction to disease phenotypes, a mouse model with constitutively reduced expression of the obligatory NR1 subunit has been developed and extensively investigated. Adult NR1(neo) (-/-) mice show multiple abnormal behaviors, including reduced social interactions, locomotor hyperactivity, self-injury, deficits in prepulse inhibition, and sensory hypersensitivity, among others. Whereas such phenotypes have largely been interpreted in the context of schizophrenia, these behavioral abnormalities are rather non-specific and are frequently present across models of diseases characterized by negative symptom domains. This study investigated auditory electrophysiological and behavioral paradigms relevant to autism, to determine whether NMDAR hypofunctionmay bemore consistent with adult ASD-like phenotypes. Indeed, transgenic mice demonstrated behavioral deficits relevant to all core ASD symptoms, including decreased social interactions, altered ultrasonic vocalizations, and increased repetitive behaviors.NMDAR disruption recapitulated clinical endophenotypes including reduced prepulse inhibition, auditory-evoked response N1 latency delay, and reduced gamma synchrony. Auditory electrophysiological abnormalities more closely resembled those seen in clinical studies of autism than schizophrenia. These results suggest that NMDA-receptor hypofunction may be associated with a continuum of neuropsychiatric diseases, includingschizophrenia and autism. Neural synchrony abnormalities suggest an imbalance of glutamatergic and GABAergic coupling and may provide a target, along with behavioral phenotypes,for preclinical screening of novel therapeutics. (c) 2012 The Authors. Genes, Brain and Behavior (c) 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.
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3. Gowen E, Hamilton A. {{Motor Abilities in Autism: A Review Using a Computational Context}}. {J Autism Dev Disord}. 2012.
Altered motor behaviour is commonly reported in Autism Spectrum Disorder, but the aetiology remains unclear. Here, we have taken a computational approach in order to break down motor control into different components and review the functioning of each process. Our findings suggest abnormalities in two areas-poor integration of information for efficient motor planning, and increased variability in basic sensory inputs and motor outputs. In contrast, motor learning processes are relatively intact and there is inconsistent evidence for deficits in predictive control. We suggest future work on motor abilities in autism should focus on sensorimotor noise and on higher level motor planning, as these seem to have a significant role in causing motor difficulties for autistic individuals.
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4. Kang-Yi CD, Grinker RR, Mandell DS. {{Korean Culture and Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2012.
This paper reviews the literature on early child development among Koreans, with a focus on autism spectrum disorders (ASD). The literature review of 951 abstracts in English, 101 abstracts in Korean and 27 full articles published from 1994 to 2011 was performed to understand the presentation of and response to ASD in Korean culture. Based on research to date on the identification, description, and treatment of ASD in Korean populations, we argue that at both conceptual and practical levels, early child development and interventions must be understood within cultural context. Culturally informed research on ASD is vital for increasing awareness of the importance of early intervention and the need for educational and psychological services in countries in which autism is stigmatized, misdiagnosed or undiagnosed.
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5. Lanfranchi S, Vianello R. {{Stress, locus of control, and family cohesion and adaptability in parents of children with down, williams, fragile x, and prader-willi syndromes}}. {Am J Intellect Dev Disabil}. 2012; 117(3): 207-24.
Abstract The present study analyzes differences in parental stress in families of children with Down, Williams, Fragile X, and Prader-Willi syndromes, exploring factors that influence parental stress, such as child’s characteristics, parental locus of control, and family cohesion and adaptability. Differences between mothers and fathers are also investigated. Parents were given self-report questionnaires to assess family stress, parental locus of control, and family cohesion and adaptability. Results showed that stress levels were lower in families of children with Down syndrome and higher in those of children with Prader-Willi syndrome. Children’s characteristics and their parents’ locus of control were found to be related to family stress levels in all four syndromes, but several aspects specific to a given syndrome also came to light, as well as some shared and some gender-specific features relating to mothers and fathers.
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6. Maezawa I, Calafiore M, Wulff H, Jin LW. {{Does microglial dysfunction play a role in autism and Rett syndrome?}}. {Neuron Glia Biol}. 2012: 1-13.
Autism spectrum disorders (ASDs) including classic autism is a group of complex developmental disabilities with core deficits of impaired social interactions, communication difficulties and repetitive behaviors. Although the neurobiology of ASDs has attracted much attention in the last two decades, the role of microglia has been ignored. Existing data are focused on their recognized role in neuroinflammation, which only covers a small part of the pathological repertoire of microglia. This review highlights recent findings on the broader roles of microglia, including their active surveillance of brain microenvironments and regulation of synaptic connectivity, maturation of brain circuitry and neurogenesis. Emerging evidence suggests that microglia respond to pre- and postnatal environmental stimuli through epigenetic interface to change gene expression, thus acting as effectors of experience-dependent synaptic plasticity. Impairments of these microglial functions could substantially contribute to several major etiological factors of autism, such as environmental toxins and cortical underconnectivity. Our recent study on Rett syndrome, a syndromic autistic disorder, provides an example that intrinsic microglial dysfunction due to genetic and epigenetic aberrations could detrimentally affect the developmental trajectory without evoking neuroinflammation. We propose that ASDs provide excellent opportunities to study the influence of microglia on neurodevelopment, and this knowledge could lead to novel therapies.
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7. Onore CE, Nordahl CW, Young GS, Van de Water JA, Rogers SJ, Ashwood P. {{Levels of Soluble Platelet Endothelial Cell Adhesion Molecule-1 and P-Selectin Are Decreased in Children with Autism Spectrum Disorder}}. {Biol Psychiatry}. 2012.
BACKGROUND: Although the etiopathology of autism spectrum disorder (ASD) is not clear, there is increasing evidence that dysfunction in the immune system affects many children with ASD. Findings of immune dysfunction in ASD include increases in inflammatory cytokines, chemokines, and microglial activity in brain tissue and cerebrospinal fluid, as well as abnormal peripheral immune cell function. METHODS: Adhesion molecules, such as platelet endothelial adhesion molecule-1 (PECAM-1), intercellular adhesion molecule-1 (ICAM-1), vascular adhesion molecule-1 (VCAM-1), P-selectin, and L-selectin, function to facilitate leukocyte transendothelial migration. We assessed concentrations of soluble adhesion molecules, sPECAM-1, sICAM-1, sVCAM-1, sP-selectin, and sL-selectin in the plasma of 49 participants with ASD and 31 typically developing controls of the same age, all of whom were enrolled as part of the Autism Phenome Project. Behavioral assessment, the levels of soluble adhesion molecules, and head circumference were compared in the same subjects. RESULTS: Levels of sPECAM-1 and sP-selectin were significantly reduced in the ASD group compared to typically developing controls (p < .02). Soluble PECAM-1 levels were negatively associated with repetitive behavior and abnormal brain growth in children with ASD (p = .03). CONCLUSIONS: Because adhesion molecules modulate the permeability and signaling at the blood-brain barrier as well as leukocyte infiltration into the central nervous system, the current data suggest a role for these molecules in the complex pathophysiology of ASD.
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8. Rai D, Golding J, Magnusson C, Steer C, Lewis G, Dalman C. {{Prenatal and early life exposure to stressful life events and risk of autism spectrum disorders: population-based studies in sweden and England}}. {PLoS One}. 2012; 7(6): e38893.
BACKGROUND AND AIM: Exposure to stressful life events during pregnancy has been suggested as a potential risk factor for offspring Autism Spectrum Disorders (ASD), but the literature is limited and inconsistent. We tested the hypothesis that maternal exposure to stressful life events would be associated with increased risks of offspring ASD, and that these risks would be highest for exposures during the prenatal period. METHODS AND RESULTS: We used prospectively collected data from two large population based studies in Sweden and England. In the Swedish study of 4429 ASD cases and 43277 controls, our exposure comprised the occurrence of any severe life event before and during pregnancy and the child’s early life. In the English study (maximum n = 11554, ASD n = 72), we studied the risk of offspring ASD in relation to a combined maternal exposure to multiple (up to 42) common and rare life events, as well as their perceived impact upon the mother during pregnancy and early life. In crude and adjusted regression analyses in both studies, we found no evidence of an association between prenatal life events, or their number and perceived impact and the risk of offspring ASD. Sub-group analysis of ASD with and without intellectual disability in the Swedish study yielded similar results. CONCLUSION: We found no evidence to support the hypotheses that exposure to stressful life events during the prenatal period is associated with an increased risk of offspring ASD.
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9. Sterling A, Barnum L, Skinner D, Warren SF, Fleming K. {{Parenting young children with and without fragile x syndrome}}. {Am J Intellect Dev Disabil}. 2012; 117(3): 194-206.
Abstract The purpose of this study was to examine maternal parenting styles across age-matched siblings using a within-family design, in which one child has Fragile X syndrome. Thirteen families participated; children were aged 16 to 71 months. Mothers completed several videotaped activities with each child separately as well as an interview. Mothers used a consistent, responsive style with both children, using the same degree of positive affect and warmth. Differences included using more behavior management strategies with the child with Fragile X and a conversational style of interaction with the sibling. Differences in approaches suggest the mothers adapted to the developmental differences between the children. The interview data supported these findings; mothers were aware of the changes made to accommodate the developmental differences.
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10. Tse MT. {{Neurodevelopmental disorders: Exploring the links between SHANK2 and autism}}. {Nat Rev Drug Discov}. 2012.
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11. Watanabe T, Yahata N, Abe O, Kuwabara H, Inoue H, Takano Y, Iwashiro N, Natsubori T, Aoki Y, Takao H, Sasaki H, Gonoi W, Murakami M, Katsura M, Kunimatsu A, Kawakubo Y, Matsuzaki H, Tsuchiya KJ, Kato N, Kano Y, Miyashita Y, Kasai K, Yamasue H. {{Diminished Medial Prefrontal Activity behind Autistic Social Judgments of Incongruent Information}}. {PLoS One}. 2012; 7(6): e39561.
Individuals with autism spectrum disorders (ASD) tend to make inadequate social judgments, particularly when the nonverbal and verbal emotional expressions of other people are incongruent. Although previous behavioral studies have suggested that ASD individuals have difficulty in using nonverbal cues when presented with incongruent verbal-nonverbal information, the neural mechanisms underlying this symptom of ASD remain unclear. In the present functional magnetic resonance imaging study, we compared brain activity in 15 non-medicated adult males with high-functioning ASD to that of 17 age-, parental-background-, socioeconomic-, and intelligence-quotient-matched typically-developed (TD) male participants. Brain activity was measured while each participant made friend or foe judgments of realistic movies in which professional actors spoke with conflicting nonverbal facial expressions and voice prosody. We found that the ASD group made significantly less judgments primarily based on the nonverbal information than the TD group, and they exhibited significantly less brain activity in the right inferior frontal gyrus, bilateral anterior insula, anterior cingulate cortex/ventral medial prefrontal cortex (ACC/vmPFC), and dorsal medial prefrontal cortex (dmPFC) than the TD group. Among these five regions, the ACC/vmPFC and dmPFC were most involved in nonverbal-information-biased judgments in the TD group. Furthermore, the degree of decrease of the brain activity in these two brain regions predicted the severity of autistic communication deficits. The findings indicate that diminished activity in the ACC/vmPFC and dmPFC underlies the impaired abilities of individuals with ASD to use nonverbal content when making judgments regarding other people based on incongruent social information.
