1. Arbab T, Pennartz CMA, Battaglia FP. {{Impaired hippocampal representation of place in the Fmr1-knockout mouse model of fragile X syndrome}}. {Sci Rep}. 2018; 8(1): 8889.
Fragile X syndrome (FXS) is an X-chromosome linked intellectual disability and the most common known inherited single gene cause of autism spectrum disorder (ASD). Building upon demonstrated deficits in neuronal plasticity and spatial memory in FXS, we investigated how spatial information processing is affected in vivo in an FXS mouse model (Fmr1-KO). Healthy hippocampal neurons (so-called place cells) exhibit place-related activity during spatial exploration, and their firing fields tend to remain stable over time. In contrast, we find impaired stability and reduced specificity of Fmr1-KO spatial representations. This is a potential biomarker for the cognitive dysfunction observed in FXS, informative on the ability to integrate sensory information into an abstract representation and successfully retain this conceptual memory. Our results provide key insight into the biological mechanisms underlying cognitive disabilities in FXS and ASD, paving the way for a targeted approach to remedy these.
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2. Bjorklund G, Skalny AV, Rahman MM, Dadar M, Yassa HA, Aaseth J, Chirumbolo S, Skalnaya MG, Tinkov AA. {{Toxic metal(loid)-based pollutants and their possible role in autism spectrum disorder}}. {Environmental research}. 2018; 166: 234-50.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction, verbal and non-verbal communication, and stereotypic behaviors. Many studies support a significant relationship between many different environmental factors in ASD etiology. These factors include increased daily exposure to various toxic metal-based environmental pollutants, which represent a cause for concern in public health. This article reviews the most relevant toxic metals, commonly found, environmental pollutants, i.e., lead (Pb), mercury (Hg), aluminum (Al), and the metalloid arsenic (As). Additionally, it discusses how pollutants can be a possible pathogenetic cause of ASD through various mechanisms including neuroinflammation in different regions of the brain, fundamentally occurring through elevation of the proinflammatory profile of cytokines and aberrant expression of nuclear factor kappa B (NF-kappaB). Due to the worldwide increase in toxic environmental pollution, studies on the role of pollutants in neurodevelopmental disorders, including direct effects on the developing brain and the subjects’ genetic susceptibility and polymorphism, are of utmost importance to achieve the best therapeutic approach and preventive strategies.
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3. Lees C. {{Prenatal Ultrasonography and Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
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4. Morgan J. {{Has autism found a place in mainstream TV?}}. {The Lancet Neurology}. 2018.
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5. Rosman NP, Abbott J, Vassar R. {{The Association of Prenatal Ultrasonography and Autism Spectrum Disorder-Reply}}. {JAMA Pediatr}. 2018.
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6. Somerset DA, Wilson RD. {{Prenatal Ultrasonography and Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
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7. Van Herwegen J, Rundblad G. {{A Cross-Sectional and Longitudinal Study of Novel Metaphor and Metonymy Comprehension in Children, Adolescents, and Adults With Autism Spectrum Disorder}}. {Front Psychol}. 2018; 9: 945.
Previous studies have shown that comprehension of figurative language is impaired in individuals with autism spectrum disorder (ASD). However, most studies have focused on lexicalized expressions and have only examined performance at one particular point in time, without examining how performance changes over development. The current study examined the comprehension of novel metaphor and metonymy in individuals with ASDs from a large age range, using both a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). Performance in the ASD group was lower compared to typically developing (TD) controls, across all ages. Importantly, the results from Experiments 1 and 2 showed that, although chronological age was not a good predictor for performance of either novel metaphor or metonymy in the cross-sectional design, performance improved when longitudinal data was considered. Correlations between vocabulary knowledge, visuo-spatial abilities and figurative language comprehension abilities were also explored.
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8. Woodbury-Smith M, Paterson AD, O’Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P. {{A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees}}. {J Neurodev Disord}. 2018; 10(1): 20.
BACKGROUND: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees. METHODS: ASD and BAP were assessed using standardized tools in 28 pedigrees from Canada and the USA, each with at least three ASD-diagnosed individuals from two nuclear families. Genome-wide linkage analysis was performed using the posterior probability of linkage (PPL) statistic, a quasi-Bayesian method that provides strength of evidence for or against linkage in an essentially model-free manner, with outcomes on the probability scale. RESULTS: The results confirm appreciable interfamilial heterogeneity as well as a high level of intrafamilial heterogeneity. Both ASD and combined ASD/BAP specific loci are apparent. CONCLUSIONS: Inclusion of subclinical phenotypes such as BAP should be more widely employed in genetic studies of ASD as a way of identifying inherited genetic variants for the disorder. Moreover, the results underscore the need for approaches to identifying genetic risk factors in extended pedigrees that are robust to high levels of inter/intrafamilial locus and allelic heterogeneity.
