1. {{Correction for Chen et al., MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome}}. {Proc Natl Acad Sci U S A};2015 (Jun 2);112(22):E2982.
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2. Carbillon L, Lachassinne E, Mekinian A. {{Preeclampsia, placental insufficiency, autism, and antiphospholipid antibodies}}. {JAMA Pediatr};2015 (Jun 1);169(6):605-606.
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3. de Marchena AB, Eigsti IM, Yerys BE. {{Brief Report: Generalization Weaknesses in Verbally Fluent Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 2)
Individuals with autism spectrum disorder (ASD) have difficulty generalizing-i.e., relating new stimuli to past experiences. Few experimental studies have addressed this weakness, despite its impact on intervention effects. In a reanalysis of data (de Marchena et al. Cognition 119(1):96-113, 2011), we tested a novel form of generalization-the ability to transfer a strategy used in one context to a similar context-in verbally fluent youth with ASD and matched typically developing controls. Participants with ASD were subtly less likely to learn from experience; their generalizations were less consistent. Generalization in ASD correlated with receptive vocabulary but not age, suggesting a link to language development. A richer understanding of how to promote generalization in ASD will advance both theory and practice.
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4. Duffney LJ, Zhong P, Wei J, Matas E, Cheng J, Qin L, Ma K, Dietz DM, Kajiwara Y, Buxbaum JD, Yan Z. {{Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators}}. {Cell Rep};2015 (May 27)
Haploinsufficiency of the Shank3 gene, which encodes a scaffolding protein at glutamatergic synapses, is a highly prevalent and penetrant risk factor for autism. Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3-deficient mice exhibit autism-like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex. Concomitantly, Shank3-deficient mice have a marked loss of cortical actin filaments, which is associated with the reduced Rac1/PAK activity and increased activity of cofilin, the major actin depolymerizing factor. The social deficits and NMDAR hypofunction are rescued by inhibiting cofilin or activating Rac1 in Shank3-deficient mice and are induced by inhibiting PAK or Rac1 in wild-type mice. These results indicate that the aberrant regulation of synaptic actin filaments and loss of synaptic NMDARs contribute to the manifestation of autism-like phenotypes. Thus, targeting actin regulators provides a strategy for autism treatment.
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5. Focquaert F, Vanneste S. {{Autism spectrum traits in normal individuals: a preliminary VBM analysis}}. {Front Hum Neurosci};2015;9:264.
In light of the new DSM-5 autism spectrum disorders diagnosis in which the autism spectrum reflects a group of neurodevelopmental disorders existing on a continuum from mild to severe expression of autistic traits, and recent empirical findings showing a continuous distribution of autistic traits in the general population, our voxel based morphometry study compares normal individuals with high autistic traits to normal individuals with low autistic traits. We hypothesize that normal individuals with high autistic traits in terms of empathizing and systemizing [high systemizing (HS)/low empathizing (LE)] share brain irregularities with individuals that fall within the clinical autism spectrum disorder. We find differences in several social brain network areas between our groups. Specifically, we find increased gray matter (GM) volume in the orbitofrontal cortex, the cuneus, the hippocampus and parahippocampus and reduced GM volume in the inferior temporal cortex, the insula, and the amygdala in our HS/LE individuals relative to our HE/LS (low autistic traits in terms of empathizing and systemizing) individuals.
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6. Huang W, Xia Q, Luo S, He H, Zhu T, Du Q, Duan R. {{Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population}}. {Mol Genet Genomic Med};2015 (May);3(3):172-181.
Fragile X syndrome is mainly caused by a CGG repeat expansion within the 5′ UTR of the fragile X mental retardation 1 (FMR1) gene. Previous analyses of the FMR1 CGG repeat patterns and flanking haplotypes in Caucasians and African Americans have identified several factors that may influence repeat instability. However, the CGG repeat patterns and distribution for FRAXAC2 have not yet been investigated in mainland Chinese. We surveyed the CGG repeat lengths in 1113 Han Chinese (534 males and 579 females), and the CGG repeat patterns of 534 males were determined by sequence analysis. We also explored the flanking haplotypes (DXS548-FRAXAC1-FRAXAC2) in 566 unaffected and 28 unrelated fragile X Chinese males. The most frequent alleles for DXS548 and FRAXAC1 were identical between our Chinese population and other Asian populations. We identified several low-abundance alleles for DXS548 and FRAXAC1 not found in previous studies in mainland Chinese and Taiwanese cohorts. The most frequent allele was (CGG)29 followed by (CGG)30, and the most frequent patterns were 9 + 9 + 9, 10 + 9 + 9, and 9 + 9 + 6 + 9, similar to those in Singaporeans. We identified only one premutation female carrier with 89 CGG repeats in the 1113 Han Chinese. A few associations between the CGG repeat patterns and flanking haplotypes were determined in this study. In general, the Chinese population had a smaller number of alleles and lower expected heterozygosity for all three STR markers and FRAXA locus when compared with Caucasians and African Americans. We identified a novel haplotype 7-3-5 + that is significantly associated with the full mutation.
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7. Johnco CJ, De Nadai AS, Lewin AB, Ehrenreich-May J, Wood JJ, Storch EA. {{Defining Treatment Response and Symptom Remission for Anxiety Disorders in Pediatric Autism Spectrum Disorders Using the Pediatric Anxiety Rating Scale}}. {J Autism Dev Disord};2015 (Jun 2)
This study examined optimal guidelines to assess treatment response and remission for anxiety in youth with autism spectrum disorders (ASD) using the Pediatric Anxiety Rating Scale (PARS). Data was collected for 108 children aged 7-16 years with comorbid anxiety and ASD before and after receiving cognitive behavior therapy. Optimal cut-offs on the PARS were assessed using signal detection analyses using receiver operating characteristic methods. Maximum agreement with response criteria was achieved at 15 % reduction in symptoms on the PARS. Maximum agreement with remission criteria was achieved at 40 % reduction in symptoms, or at a score of 10 or below at post-treatment. Results have implications for standardizing criteria used in research trials and clinical practice.
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8. Keskin M, Erdeve SS, Aycan Z. {{Rett syndrome and precocious puberty association}}. {J Pediatr Endocrinol Metab};2015 (May 30)
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9. Kurita D, Wakuda T, Takagai S, Takahashi Y, Iwata Y, Suzuki K, Mori N. {{Deterioration of clinical features of a patient with autism spectrum disorder after anti-NMDA-receptor encephalitis}}. {Psychiatry Clin Neurosci};2015 (Jun 2)
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10. Nuske HJ, Vivanti G, Dissanayake C. {{No Evidence of Emotional Dysregulation or Aversion to Mutual Gaze in Preschoolers with Autism Spectrum Disorder: An Eye-Tracking Pupillometry Study}}. {J Autism Dev Disord};2015 (Jun 2)
The ‘gaze aversion hypothesis’, suggests that people with Autism Spectrum Disorder (ASD) avoid mutual gaze because they experience it as hyper-arousing. To test this hypothesis we showed mutual and averted gaze stimuli to 23 mixed-ability preschoolers with ASD (M Mullen DQ = 68) and 21 typically-developing preschoolers, aged 2-5 years, using eye-tracking technology to measure visual attention and emotional arousal (i.e., pupil dilation). There were no group differences in attention to the eye region or pupil dilation. Both groups dilated their pupils more to mutual compared to averted gaze. More internalizing symptoms in the children with ASD related to less emotional arousal to mutual gaze. The pattern of results suggests that preschoolers with ASD are not dysregulated in their responses to mutual gaze.
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11. Renard D, Fourcade G, Castelnovo G. {{Teaching NeuroImages: Corpus callosum splenium hyperintensity in fragile X-associated tremor ataxia syndrome}}. {Neurology};2015 (Jun 2);84(22):e194.
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12. Sato A, Takamatsu Y, Kasai Y, Kobayashi S, Hino T, Ikeda K, Mizuguchi M. {{[JSNP Excellent Presentation Award for CINP2014: Tsc2 haploinsufficiency is associated with more severe autism-related behavioral deficits in mouse models of tuberous sclerosis complex]}}. {Nihon Shinkei Seishin Yakurigaku Zasshi};2015 (Apr);35(2):51-52.
13. Sinha S, McGovern RA, Sheth SA. {{Deep brain stimulation for severe autism: from pathophysiology to procedure}}. {Neurosurg Focus};2015 (Jun);38(6):E3.
Autism is a heterogeneous neurodevelopmental disorder characterized by early-onset impairment in social interaction and communication and by repetitive, restricted behaviors and interests. Because the degree of impairment may vary, a spectrum of clinical manifestations exists. Severe autism is characterized by complete lack of language development and potentially life-threatening self-injurious behavior, the latter of which may be refractory to medical therapy and devastating for affected individuals and their caretakers. New treatment strategies are therefore needed. Here, the authors propose deep brain stimulation (DBS) of the basolateral nucleus of the amygdala (BLA) as a therapeutic intervention to treat severe autism. The authors review recent developments in the understanding of the pathophysiology of autism. Specifically, they describe the genetic and environmental alterations that affect neurodevelopment. The authors also highlight the resultant microstructural, macrostructural, and functional abnormalities that emerge during brain development, which create a pattern of dysfunctional neural networks involved in socioemotional processing. They then discuss how these findings implicate the BLA as a key node in the pathophysiology of autism and review a reported case of BLA DBS for treatment of severe autism. Much progress has been made in recent years in understanding the pathophysiology of autism. The BLA represents a logical neurosurgical target for treating severe autism. Further study is needed that considers mechanistic and operative challenges.
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14. Stins JF, Emck C, de Vries EM, Doop S, Beek PJ. {{Attentional and sensory contributions to postural sway in children with autism spectrum disorder}}. {Gait Posture};2015 (May 21)
Postural control is known to depend on sensory and cognitive factors. Little is known about how children with autism spectrum disorder (ASD) regulate static balance, and to what extent vision and cognition contribute to the regulation of balance in this group. We compared a group of children with mild ASD and a group of age- and gender-matched controls on various postural tasks, standing on a Wii Balance Board. We tested a sensory disturbance (closing the eyes) and a cognitive disturbance (word memorization) on the control of quiet standing. Analysis of center-of-pressure excursions revealed moderate effects of cognitive load, but clear effects of vision. We found a greater destabilizing effect of closing the eyes (greater postural excursions in the medio-lateral direction) for the ASD group than for controls. No group differences were found on word recall and on a standardized balance test (Movement Assessment Battery for Children; M-ABC2). We suggest that the postural effects reflect tighter coupling between vision and motor adjustments in ASD than in controls, which is consistent with recent suggestions of greater reliance on vision in this group.
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15. Takahashi N, Tarumi W, Itoh MT, Ishizuka B. {{The Stage- and Cell Type-Specific Localization of Fragile X Mental Retardation Protein in Rat Ovaries}}. {Reprod Sci};2015 (Jun 2)
Premutations of the fragile X mental retardation 1 (FMR1) gene are associated with increased risk of primary ovarian insufficiency. Here we examined the localization of the Fmr1 gene protein product, fragile X mental retardation protein (FMRP), in rat ovaries at different stages, including fetus, neonate, and old age. In ovaries dissected from 19 days postcoitum embryos, the germ cells were divided into 2 types: one with decondensed chromatin in the nucleus was FMRP positive in the cytoplasm, but the other with strongly condensed chromatin in the nucleus was FMRP negative in the cytoplasm. The FMRP was predominantly localized to the cytoplasm of oocytes in growing ovarian follicles. Levels of FMRP in oocytes from elderly (9 or 14 months of age) ovaries were lower than in those from younger ovaries. These results suggest that FMRP is associated with the activation of oogenesis and oocyte function. Especially, FMRP is likely to be implicated in germline development during oogenesis.
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16. Walker CK, Ashwood P, Hertz-Picciotto I. {{Preeclampsia, placental insufficiency, autism, and antiphospholipid antibodies-reply}}. {JAMA Pediatr};2015 (Jun 1);169(6):606-607.
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17. Wang H, Doering LC. {{Autism spectrum disorders: emerging mechanisms and mechanism-based treatment}}. {Front Cell Neurosci};2015;9:183.
