1. Angelidou A, Alysandratos KD, Asadi S, Zhang B, Francis K, Vasiadi M, et al. {{Brief Report: « Allergic Symptoms » in Children with Autism Spectrum Disorders. More than Meets the Eye?}}. {J Autism Dev Disord}. 2011 Jan 6.
Many children with Autism Spectrum Disorders (ASD) have either family and/or personal history of « allergic symptomatology », often in the absence of positive skin or RAST tests. These symptoms may suggest mast cell activation by non-allergic triggers. Moreover, children with mastocytosis or mast cell activation syndrome (MCAS), a spectrum of rare diseases characterized by increased number of activated mast cells in many organs, appear to have ASD at a rate tenfold higher (1/10 children) than that of the general population (1/100 children). Mast cell activation by allergic, infectious, environmental and stress-related triggers, especially perinatally, would release pro-inflammatory and neurotoxic molecules. We speculate these could disrupt the gut-blood-brain barriers, thus contributing to brain inflammation and ASD pathogenesis. Increased mast cell responsiveness may define at least a subgroup of ASD subjects, who could benefit from inhibition of mast cell activation.
2. Brown HM, Klein PD. {{Writing, Asperger Syndrome and Theory of Mind}}. {J Autism Dev Disord}. 2011 Jan 5.
This research compared the written compositions of 16 adults with high-functioning autism spectrum disorders and 16 neurotypical control participants, and examined the influence of theory of mind on their writing. Participants ranging in age from 17 years to 42 years, matched on Vocabulary subtest scores from the Wechsler Adult Intelligence Scale (1997), completed the Social Attribution Task and wrote an expository and a narrative text. Texts were assessed on 18 variables representing quality, mechanics, and length. It was found that adults with HFASD wrote lower quality narrative and expository texts, and narratives of shorter length. Theory of mind was positively associated with writing quality and text length across both genres.
3. Ghanizadeh A. {{Targeting of Glycine Site on NMDA Receptor as a Possible New Strategy for Autism Treatment}}. {Neurochem Res}. 2011 Jan 6.
The exact pathophysiology of the neurodevelopment disorder of autism is not clear and there is not any curative approach for it. There is only one FDA-approved medication for its management. Therefore, providing of novel treatments is highly required. The hypofunction of GABAergic system and glutamate toxicity are generally believed to have a causal role for autism. The antagonist of the N-methyl-D: -aspartic acid (NMDA) glutamate receptor improves autism. Glycine is required for the activation of NMDA receptor. The antagonist of glycine site decreases NMDA receptor conductance. It is hypothesis that glycine site antagonists can be tested as a new strategy for the management of autism.
4. Ghanizadeh A. {{Can ziconotide as a N-type voltage-sensitive calcium channel blocker open a new mode for treatment of autism? A hypothesis}}. {Neurosciences (Riyadh)}. 2011 Jan;16(1):83.
5. Hertz-Picciotto I, Bergman A, Fangstrom B, Rose MB, Krakowiak P, Pessah IN, et al. {{Polybrominated diphenyl ethers in relation to autism and developmental delay: A case-control study}}. {Environ Health}. 2011 Jan 5;10(1):1.
ABSTRACT: BACKGROUND: Polybrominated diphenyl ethers (PBDEs) are flame retardants used widely and in increasing amounts in the U.S. over the last few decades. PBDEs and their metabolites cross the placenta and studies in rodents demonstrate neurodevelopmental toxicity from prenatal exposures. PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. METHODS: Participants were 100 children from the CHARGE (CHildhood Autism Risk from Genetics and the Environment) Study, a case-control epidemiologic investigation of children with autism/autism spectrum disorder, with developmental delay and from the general population. Diagnoses of autism were confirmed by the Autism Diagnostic Observation Schedule and Autism Diagnostic Inventory-Revised, and of developmental delay using the Mullen’s Scales of Early Learning and the Vineland Adaptive Behavior Scales. Typically developing controls were those with no evidence of delay, autism, or autism spectrum disorder. Eleven PBDE congeners were measured by gas chromatography/mass spectrometry from serum specimens collected after children were assessed. Logistic regression was used to evaluate the association between plasma PBDEs and autism. RESULTS: Children with autism/autism spectrum disorder and developmental delay were similar to typically developing controls for all PBDE congeners, but levels were high for all three groups. CONCLUSIONS: Plasma samples collected post-diagnosis in this study may not represent early life exposures due to changes in diet and introduction of new household products containing PBDEs. Studies with direct measurements of prenatal or infant exposures are needed to assess the possible causal role for these compounds in autism spectrum disorders.
6. Meidenbauer JJ, Mantis JG, Seyfried TN. {{The EL mouse: A natural model of autism and epilepsy}}. {Epilepsia}. 2011 Jan 4.
Purpose: Autism is a multifactorial disorder that involves impairments in social interactions and communication, as well as restricted and repetitive behaviors. About 30% of individuals with autism develop epilepsy by adulthood. The EL mouse has long been studied as a natural model of multifactorial idiopathic generalized epilepsy with complex partial seizures. Because epilepsy is a comorbid trait of autism, we evaluated the EL mouse for behaviors associated with autism. Methods: We compared the behavior of EL mice to age-matched control DDY mice, a genetically related nonepileptic strain. The mice were compared in the open field and in the light-dark compartment tests to measure activity, exploratory behavior, and restricted and repetitive behaviors. The social transmission of food preference test was employed to evaluate social communication. Home-cage behavior was also evaluated in EL and DDY mice as a measure of repetitive activity. Key Findings: We found that EL mice displayed several behavioral abnormalities characteristic of autism. Impairments in social interaction and restricted patterns of interest were evident in EL mice. Activity, exploratory behavior, and restricted behavior were significantly greater in EL mice than in DDY mice. EL mice exhibited impairment in the social transmission of food preference assay. In addition, a stereotypic myoclonic jumping behavior was observed in EL mice, but was not seen in DDY mice. It is of interest to note that seizure activity within 24 h of testing exacerbated the autistic behavioral abnormalities found in EL mice. Significance: These findings suggest that the EL mouse expresses behavioral abnormalities similar to those seen in persons with autism. We propose that the EL mouse can be utilized as a natural model of autism and epilepsy.
7. Mouridsen SE, Rich B, Isager T. {{Epilepsy and other central nervous system diseases in atypical autism: a case control study}}. {J Neural Transm}. 2011 Jan 5.
There is an increased but variable risk of epilepsy in autism spectrum disorders. The objective of this study is to compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 89 individuals diagnosed as children with atypical autism (AA) with 258 matched controls from the general population. Diagnoses were based on data from the nationwide Danish National Hospital Register. The average observation time was 32.9 years, and mean age at follow-up was 48.5 years. Of the 89 individuals with AA, 20 (22.5%) were registered with at least one epilepsy diagnosis against 11 (4.3%) in the comparison group (P < 0.0001; OR 6.5; 95% CI 3.0-14.2). Other CNS diseases occurred with low frequency in both groups, and no single CNS disease (except epilepsy) was significantly more frequent among patients with AA. Low intelligence was a risk factor for epilepsy in AA.
8. Ricciardi S, Boggio EM, Grosso S, Lonetti G, Forlani G, Stefanelli G, et al. {{Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model}}. {Hum Mol Genet}. 2011 Jan 6.
Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene MECP2. RTT becomes manifest after a period of apparently normal development and causes growth deceleration, severe psychomotor impairment and mental retardation. Effective animal models for RTT are available and show morphofunctional abnormalities of synaptic connectivity. However, the molecular consequences of MeCP2 disruption leading to neuronal and synaptic alterations are not known. Protein synthesis regulation via the mammalian target of rapamycin (mTOR) pathway is crucial for synaptic organization and its disruption is involved in a number of neurodevelopmental diseases. We investigated the phosphorylation of the ribosomal protein (rp) S6, whose activation is highly dependent from mTOR activity. Immunohistochemistry showed that rpS6 phosphorylation is severely affected in neurons across cortical areas of Mecp2 mutants and that this alteration precedes the severe symptomatic phase of the disease. Moreover, we found a severe defect of initiation of protein synthesis in the brain of presymptomatic Mecp2 mutant that was not restricted to specific subset of transcripts. Finally, we provide evidence for a general dysfunction of the Akt/mTOR, but not ERK, signaling associated with the disease progression in mutant brains. Our results indicate that defects in Akt/mTOR pathway are responsible for the altered translational control in Mecp2 mutant neurons and disclosed a novel putative biomarker of the pathological process. Importantly, this study provides a novel context of therapeutic interventions that can be designed to successfully restrain or ameliorate the development of RTT.
9. Uddin LQ. {{The self in autism: An emerging view from neuroimaging}}. {Neurocase}. 2011 Jan 4:1-8.
One of the defining characteristics of individuals with autism spectrum disorder (ASD) is difficulty with social interaction and communication with others, or interpersonal interaction. Accordingly, the majority of research efforts to date have focused on understanding the brain mechanisms underlying the deficits in social cognition and language associated with ASD. However, recent empirical and theoretical work has begun to reveal increasing evidence for altered self-representation, or intrapersonal cognition in ASD. Here we review recent studies of the self in ASD, focusing on paradigms examining ‘physical’ aspects of the self, including self-recognition, agency and perspective taking, and ‘psychological’ aspects of the self, including self-knowledge and autobiographical memory. A review of the existing literature suggests that psychological, but not physical, aspects of self-representation are altered in ASD. One key brain region that has emerged as a potential locus of self-related deficits in ASD is the medial prefrontal cortex, part of a larger ‘default mode network’. Collectively, the findings from these studies provide a more comprehensive framework for understanding the complex social, cognitive, and affective symptomatology of ASD.
10. Ye H, Liu J, Wu JY. {{Cell Adhesion Molecules and Their Involvement in Autism Spectrum Disorder}}. {Neurosignals}. 2011 Jan 6;18(2):62-71.
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by abnormalities in social interaction, language development and behavior. Recent genetic studies demonstrate that alterations in synaptic genes including those encoding cell adhesion molecules and their interaction partners play important roles in the pathogenesis of ASD. Systematic analyses of different cell adhesion molecule genes will help elucidate their normal functions and regulatory mechanisms in the establishment and maintenance of normal neural circuits and uncover genetic aberrations contributing to ASD.
