1. Depino AM. {{Peripheral and central inflammation in autism spectrum disorders}}. {Mol Cell Neurosci};2012 (Oct 12)
Recent reports have given a central role to environmental factors in the etiology of autism spectrum disorders (ASD). However, most proposed perinatal factors seem to converge into the activation of the immune system, suggesting that an early inflammatory response could be a unifying factor in the etiology ASD. Here I review the evidence of early immune activation in individuals with ASD, and the chronic peripheral and central alterations observed in the inflammatory response in ASD. This evidence shows that ASD is associated with altered neuroinflammatory processes and abnormal immune responses in adulthood. How these immune alterations can affect developmental programming of adult behavior or directly affect behavior later in life is discussed in the context of both clinical and animal models of research. Recent studies in rodents clearly support a role of elevated cytokines in the behavioral symptoms of ASD, both during development and in adulthood.
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2. Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Jr., Roeder K, Devlin B. {{Common genetic variants, acting additively, are a major source of risk for autism}}. {Mol Autism};2012 (Oct 15);3(1):9.
ABSTRACT: BACKGROUND: Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. METHODS: By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. RESULTS: By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. CONCLUSIONS: Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.
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3. Whitehouse AJ, Holt BJ, Serralha M, Holt PG, Hart PH, Kusel MM. {{Maternal Vitamin D Levels and the Autism Phenotype Among Offspring}}. {J Autism Dev Disord};2012 (Oct 16)
We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype. Serum 25(OH)-vitamin D concentrations of 929 women were measured at 18 weeks’ pregnancy. The mothers of the three children with a clinical diagnosis of autism spectrum disorder had 25(OH)-vitamin D concentrations above the population mean. The offspring of 406 women completed the Autism-Spectrum Quotient in early adulthood. Maternal 25(OH)-vitamin D concentrations were unrelated to offspring scores on the majority of scales. However, offspring of mothers with low 25(OH)-vitamin D concentrations (<49 nmol/L) were at increased risk for ‘high’ scores (>/=2SD above mean) on the Attention Switching subscale (odds ratio: 5.46, 95 % confidence interval: 1.29, 23.05). The involvement of maternal vitamin D during pregnancy in autism requires continued investigation.
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4. Yu B. {{Issues in Bilingualism and Heritage Language Maintenance: Perspectives of Minority-Language Mothers of Children with Autism Spectrum Disorders}}. {Am J Speech Lang Pathol};2012 (Oct 15)
PURPOSE: This study investigated the language practices of ten bilingual, Chinese/English-speaking, immigrant mothers with their children with autism spectrum disorders. It aimed to understand (a) the nature of the language practices, (b) their constraints, and (c) their impact. METHOD: In-depth phenomenological interviewing was employed with thematic and narrative analyses to yield themes. RESULTS: Language practices perceived to be advantageous to intervention access and wellness were adopted. Chinese was valued, but not pursued if it was believed to hinder development or English acquisition. All of the mothers believed bilingualism made learning more challenging. Many believed it caused confusion or exacerbated disabilities. These deficit views of bilingualism were commonly reinforced by professionals. All of the mothers were motivated to help their children learn English but had no assistance to do so. Practices that were sustainable aligned with families’ preferred communication patterns. CONCLUSIONS: There is an urgent need for practitioners to be better informed about issues related to bilingualism and second language learning. Professionals should support parents to arrive at language use patterns that are self-enhancing and congruent with families’ needs.