1. Feinberg E, Silverstein M, Ferreira-Cesar Z. {{Integrating mental health services for mothers of children with autism}}. {Psychiatric services (Washington, DC)}. 2013 Sep 1;64(9):930.
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2. Genereux DP, Laird CD. {{Why do fragile X carrier frequencies differ between Asian and non-Asian populations?}}. {Genes & genetic systems}. 2013;88(3):211-24.
Asian and non-Asian populations have been reported to differ substantially in the distribution of fragile X alleles into the normal (< 55 CGG repeats), premutation (55-199 CGG repeats), and full-mutation (> 199 CGG repeats) size classes. Our statistical analyses of data from published general-population studies confirm that Asian populations have markedly lower frequencies of premutation alleles, reminiscent of earlier findings for expanded alleles at the Huntington’s Disease locus. To examine historical and contemporary factors that may have shaped and now sustain allele-frequency differences at the fragile X locus, we develop a population-genetic/epigenetic model, and apply it to these published data. We find that founder-haplotype effects likely contribute to observed frequency differences via substantially lower mutation rates in Asian populations. By contrast, any premutation frequency differences present in founder populations would have disappeared in the several millennia since initial establishment of these groups. Differences in the reproductive fitness of female premutation carriers arising from fragile X primary ovarian insufficiency (FXPOI) and from differences in mean maternal age may also contribute to global variation in carrier frequencies.
3. Kim KC, Lee DK, Go HS, Kim P, Choi CS, Kim JW, Jeon SJ, Song MR, Shin CY. {{Pax6-Dependent Cortical Glutamatergic Neuronal Differentiation Regulates Autism-Like Behavior in Prenatally Valproic Acid-Exposed Rat Offspring}}. {Molecular neurobiology}. 2013 Sep 13.
Imbalance in excitatory/inhibitory signal in the brain has been proposed as one of the main pathological features in autism spectrum disorders, although the underlying cellular and molecular mechanism is unclear yet. Because excitatory/inhibitory imbalance can be induced by aberration in glutamatergic/GABAergic neuronal differentiation, we investigated the mechanism of dysregulated neuronal differentiation between excitatory and inhibitory neurons in the embryonic and postnatal brain of prenatally valproic acid-exposed rat offspring, which is often used as an animal model of autism spectrum disorders. Transcription factor Pax6, implicated in glutamatergic neuronal differentiation, was transiently increased in embryonic cortex by valproate exposure, which resulted in the increased expression of glutamatergic proteins in postnatal brain of offspring. Chromatin immunoprecipitation showed increased acetylated histone binding on Pax6 promoter region, which may underlie the transcriptional up-regulation of Pax6. Other histone deacetylase (HDAC) inhibitors including TSA and SB but not valpromide, which is devoid of HDAC inhibitor activity, induced Pax6 up-regulation. Silencing Pax6 expression in cultured rat primary neural progenitor cells demonstrated that up-regulation of Pax6 plays an essential role in valproate-induced glutamatergic differentiation. Blocking glutamatergic transmission with MK-801 or memantine treatment, and to a lesser extent with MPEP treatment, reversed the impaired social behaviors and seizure susceptibility of prenatally valproate-exposed offspring. Together, environmental factors may contribute to the imbalance in excitatory/inhibitory neuronal activity in autistic brain by altering expression of transcription factors governing glutamatergic/GABAergic differentiation during fetal neural development, in conjunction with the genetic preload.
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4. Nickel LR, Thatcher AR, Keller F, Wozniak RH, Iverson JM. {{Posture Development in Infants at Heightened vs. Low Risk for Autism Spectrum Disorders}}. {Infancy : the official journal of the International Society on Infant Studies}. 2013 Sep;18(5):639-61.
Evidence suggests that children and adults diagnosed with autism spectrum disorders (ASD) exhibit difficulties with postural control. Retrospective video studies of infants later diagnosed with ASD indicate that infants who eventually receive an ASD diagnosis exhibit delays in postural development. This study investigates early posture development prospectively and longitudinally in 22 infants at heightened biological risk for ASD (HR) and 18 infants with no such risk (Low Risk; LR). Four HR infants received an autism diagnosis (AD infants) at 36 months. Infants were videotaped at home at 6, 9, 12, and 14 months during everyday activities and play. All infant postures were coded and classified as to whether or not they were infant-initiated. Relative to LR infants, HR infants were slower to develop skill in sitting and standing postures. AD infants exhibited substantial delays in the emergence of more advanced postures and initiated fewer posture changes. Because posture advances create opportunities for infants to interact with objects and people in new and progressively more sophisticated ways, postural delays may have cascading effects on opportunities for infant exploration and learning. These effects may be greater for infants with ASD, for whom posture delays are more significant.
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5. Sakurai T. {{Drug development targeting synaptic molecules – autism mouse models as an example}}. {Nihon yakurigaku zasshi Folia pharmacologica Japonica}. 2013 Sep;142(3):116-21.
6. Singh S. {{Valproate use during pregnancy was linked to autism spectrum disorder and childhood autism in offspring}}. {Annals of internal medicine}. 2013 Aug 20;159(4):JC13.
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7. Underwood E. {{Alarm over autism test}}. {Science (New York, NY)}. 2013 Sep 13;341(6151):1164-7.
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8. Wallisch P, Bornstein AM. {{Enhanced motion perception as a psychophysical marker for autism?}}. {The Journal of neuroscience : the official journal of the Society for Neuroscience}. 2013 Sep 11;33(37):14631-2.
