1. {{SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research}}. {Neuron}. 2018; 97(3): 488-93.
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.
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2. Ali A, Cui X, Alexander S, Eyles D. {{The placental immune response is dysregulated developmentally vitamin D deficient rats: Relevance to autism}}. {The Journal of steroid biochemistry and molecular biology}. 2018.
Emerging evidence suggests that maternal or developmental vitamin D (DVD) deficiency is a risk factor for Autism Spectrum Disorders. A well-established association has also been found between gestational infection and increased incidence of autism. Placenta mediates the maternal immune response in respect to the foetus. The placenta is also a major source of vitamin D and locally produced vitamin D is an essential regulator of immune function during pregnancy. Here we investigate the effects of DVD-deficiency on baseline placental immune status and in response to the well-known viral and bacterial immune activating agents polyriboinosinic-polyribocytidylic acid (poly(I:C) and lipopolysaccharide (LPS). We show DVD-deficiency does not affect baseline inflammatory cytokines in placenta. However, when challenged with poly(I:C) but not LPS, DVD-deficient placentas from male foetuses had higher production of IL-6 and 1L-1beta compared to control placentas. This suggests the developing DVD-deficient male foetus may be particularly vulnerable to maternal viral exposures. This in turn may have adverse implications for the developing male brain. In conclusion, a dysregulated placental immune response may provide a plausible mechanism for both the epidemiological links between DVD-deficiency and increased male incidence of developmental conditions such as autism.
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3. Chez M, Lepage C, Parise C, Dang-Chu A, Hankins A, Carroll M. {{Safety and Observations from a Placebo-Controlled, Crossover Study to Assess Use of Autologous Umbilical Cord Blood Stem Cells to Improve Symptoms in Children with Autism}}. {Stem cells translational medicine}. 2018.
The aim of this exploratory study was to assess the safety and clinical effects of autologous umbilical cord blood (AUCB) infusion in children with idiopathic autism spectrum disorder (ASD). Twenty-nine children 2 to 6 years of age with a confirmed diagnosis of ASD participated in this randomized, blinded, placebo-controlled, crossover trial. Participants were randomized to receive AUCB or placebo, evaluated at baseline, 12, and 24 weeks, received the opposite infusion, then re-evaluated at the same time points. Evaluations included assessments of safety, Expressive One Word Picture Vocabulary Test, 4th edition, Receptive One Word Picture Vocabulary Test, 4th edition, Clinical Global Impression, Stanford-Binet Fluid Reasoning and Knowledge, and the Vineland Adaptive Behavior and Socialization Subscales. Generalized linear models were used to assess the effects of the response variables at the 12- and 24-week time periods under each condition (AUCB, placebo). There were no serious adverse events. There were trends toward improvement, particularly in socialization, but there were no statistically significant differences for any endpoints. The results of this study suggest that autologous umbilical cord infusions are safe for children with ASD. Tightly controlled trials are necessary to further progress the study of AUCB for autism. Stem Cells Translational Medicine 2018.
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4. Cosemans N, Vandenhove L, Maljaars J, Van Esch H, Devriendt K, Baldwin A, Fryns JP, Noens I, Peeters H. {{ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder}}. {European journal of medical genetics}. 2018.
We describe a patient with a de novo balanced translocation 46,XY,t(9; 13)(q31.2; q22.1) and autism spectrum disorder, intellectual disability, a metopic craniosynostosis, a corpus callosum dysgenesis and dysmorphic facial features, most notably ptosis. Breakpoint mapping was performed by means of targeted locus amplification (TLA) and sequencing, because conventional breakpoint mapping by means of fluorescent in situ hybridization and long-range PCR was hampered by a complex submicroscopic rearrangement. The translocation breakpoints directly affected the genes KLF12 (chromosome 13) and ZNF462 (chromosome 9). The latter gene was disrupted by multiple breakpoints, resulting in the loss of three fragments and a rearrangement of the remaining fragments. Therefore, haploinsufficiency of ZNF462 was assumed. Loss-of-function variants in ZNF462 have recently been published by Weiss et al. (2017) in a series of eight patients from six independent families delineating the ZNF462-associated phenotype. The latter closely matches with the clinical features of the current translocation patient. Besides, no direct evidence for an association of KLF12 to the phenotypic features was found. Therefore, we conclude that the phenotype of the current patient is mainly caused by the disruption of ZNF462. We present clinical data from birth to adulthood and data on the cognitive and behavioral profile of the current patient which may add to a more precise counseling and surveillance of development in young children with ZNF462 mutations. In addition, the current case illustrates that TLA is an efficient method for determining complex chromosomal breakpoints.
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5. Donegan JJ, Boley AM, Lodge DJ. {{Embryonic stem cell transplants as a therapeutic strategy in a rodent model of autism}}. {Neuropsychopharmacology}. 2018.
Autism is a neurodevelopmental disorder characterized by disruptions in three core behavioral domains: deficits in social interaction, impairments in communication, and repetitive and stereotyped patterns of behavior or thought. There are currently no drugs available for the treatment of the core symptoms of ASD and drugs that target comorbid symptoms often have serious adverse side effects, suggesting an urgent need for new therapeutic strategies. The neurobiology of autism is complex, but converging evidence suggests that ASD involves disruptions in the inhibitory GABAergic neurotransmitter system. Specifically, people with autism have a reduction in parvalbumin (PV)-containing interneurons in the PFC, leading to the suggestion that restoring interneuron function in this region may be a novel therapeutic approach for ASD. Here we used a dual-reporter embryonic stem cell line to generate enriched populations of PV-positive interneurons, which were transplanted into the medial prefrontal cortex (mPFC) of the Poly I:C rodent model of autism. PV interneuron transplants were able to decrease pyramidal cell firing in the mPFC and alleviated deficits in social interaction and cognitive flexibility. Our results suggest that restoring PV interneuron function in the mPFC may be a novel and effective treatment strategy to reduce the core symptoms of autism.
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6. Hannant P, Cassidy S, Van de Weyer R, Mooncey S. {{Sensory and motor differences in Autism Spectrum Conditions and developmental coordination disorder in children: A cross-syndrome study}}. {Human movement science}. 2018; 58: 108-18.
Recent research has shown that Developmental coordination disorder (DCD) can present with some similar symptomology as Autism Spectrum Conditions (ASC). This paper therefore explored the similarities and differences in coordination and sensory responsivity between DCD and ASC. 77 children took part: 42 (35 male, 7 female) with ASC (ages 7-21: mean age 12.23years), 26 (19 male, 7 female) with DCD (ages 7-21; mean age 11.07years) and 9 (2 male, 7 female) with ASC and DCD (ages 8-15; mean age 12.27). All groups completed a battery of validated parent report measures online that included motor coordination (DCDQ), sensory responsivity (SPC-R) and social communication measures (AQ). Results showed no significant differences in coordination, and some significant differences in sensory responsivity between ASC and DCD (increased visual and auditory responsivity and decreased proprioception). Exploratory analysis showed that these differences showed good validity in identifying the diagnosis of ASC and DCD. These results elucidate the underlying causes of motor coordination difficulties in both conditions. Specifically, ASC coordination difficulties appear linked to visual processing impairments, whilst DCD coordination difficulties appear to be linked to spatial processing. This may aid better diagnosis and intervention for these conditions.
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7. Kolacz J, Raspa M, Heilman KJ, Porges SW. {{Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS)}}. {J Autism Dev Disord}. 2018.
Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center Sensory Scales (BBCSS), based on Polyvagal Theory. Parents/guardians reported on 333 individuals with FXS, 41% with ASD features. Factor structure using a split-sample exploratory-confirmatory design conformed to neurophysiological predictions. Internal consistency, test-retest, and inter-rater reliability were good to excellent. BBCSS subscales converged with the Sensory Profile and Sensory Experiences Questionnaire. However, data also suggest that BBCSS subscales reflect unique features related to sensory processing. Individuals with FXS and ASD features displayed more sensory challenges on most subscales.
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8. Krogh-Jespersen S, Kaldy Z, Valadez AG, Carter AS, Woodward AL. {{Goal prediction in 2-year-old children with and without autism spectrum disorder: An eye-tracking study}}. {Autism Res}. 2018.
This study examined the predictive reasoning abilities of typically developing (TD) infants and 2-year-old children with autism spectrum disorder (ASD) in an eye-tracking paradigm. Participants watched a video of a goal-directed action in which a human actor reached for and grasped one of two objects. At test, the objects switched locations. Across these events, we measured: visual anticipation of the action outcome with kinematic cues (i.e., a completed reaching behavior); goal prediction of the action outcome without kinematic cues (i.e., an incomplete reach); and latencies to generate predictions across these two tasks. Results revealed similarities in action anticipation across groups when trajectory information regarding the intended goal was present; however, when predicting the goal without kinematic cues, developmental and diagnostic differences became evident. Younger TD children generated goal-based visual predictions, whereas older TD children were not systematic in their visual predictions. In contrast to both TD groups, children with ASD generated location-based predictions, suggesting that their visual predictions may reflect visuomotor perseveration. Together, these results suggest differences in early predictive reasoning abilities. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The current study examines the ability to generate visual predictions regarding other people’s goal-directed actions, specifically reaching and grasping an object, in infants and children with and without autism spectrum disorder. Results showed no differences in abilities when movement information about a person’s goal was evident; however, differences were evident across age and clinical diagnoses when relying on previous knowledge to generate a visual prediction.
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9. Li H, Fujiura G, Magana S, Parish S. {{Health care expenditures of overweight and obese U.S. adults with intellectual and developmental disabilities}}. {Res Dev Disabil}. 2018; 75: 1-10.
BACKGROUND: U.S. adults with intellectual and developmental disabilities (IDD) have poorer health status and greater risks for being overweight and obese, which are major drivers of health care expenditures in the general population. Health care expenditures and IDD have not been studied using nationally representative samples, and the impact of overweight and obesity have not been examined. AIM: Using nationally representative data, we aimed to compare the health care expenditures of not-overweight, overweight and obese U.S. adults with IDD, and calculate model-adjusted expenditures. METHODS AND PROCEDURES: Pooled data from the 2002-2011 Medical Expenditure Panel Survey linked to National Health Interview Survey (n=1224) were analyzed. Two-part model regressions were conducted, with covariates being year of survey, age, sex, race/ethnicity, household income status, geographical region, urban/rural, marital status, insurance coverage, perceived health status, and perceived mental health status. OUTCOMES AND RESULTS: Overall, obese adults with intellectual and developmental disabilities had higher expenditures than their non-obese peers. Being obese was associated with an estimated additional $2516 in mean expenditures and $1200 in median expenditures compared with the reference group, who were neither overweight nor obese. CONCLUSIONS AND IMPLICATIONS: Obesity is an important predictor of higher health care costs among community-living adults with IDD Finding effective strategies and interventions to address obesity in this population has great financial and policy significance.
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10. Najafabadi MG, Sheikh M, Hemayattalab R, Amir M, Rezaii M, Hafizi S. {{The effect of SPARK on social and motor skills of children with autism}}. {Pediatrics and neonatology}. 2018.
BACKGROUND: This study aimed to evaluate the effectiveness of a selected group exercise known as Sports, Play and Active Recreation for Kids (SPARK) on the motor and behavioral skills of children with autism spectrum disorder (ASD) using a quasi-experimental design with repeated measures. METHODS: Twenty-eight children with ASD (age range of 5e12 years) participated in this study. The participants were examined at baseline, pre-test, and post-test using Bruininks-Oseretsky Test of Motor Proficiency (BOTMP), Autism treatment evaluation checklist (ATEC), and Gilliam Autism Rating Scale-second edition (GARS-2). RESULTS: The results showed that the SPARK program significantly improved balance (static and dynamic), bilateral coordination and social interaction (p < 0.05) in children with ASD. CONCLUSION: The results of this study suggest that the SPARK's training can be considered as a therapeutic option not only for motor enhancement but also for improving social skills in children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
11. Needham BD, Tang W, Wu WL. {{Searching for the gut microbial contributing factors to social behavior in rodent models of autism spectrum disorder}}. {Dev Neurobiol}. 2018.
Social impairment is one of the major symptoms in multiple psychiatric disorders, including autism spectrum disorder (ASD). Accumulated studies indicate a crucial role for the gut microbiota in social development, but these mechanisms remain unclear. This review focuses on two strategies adopted to elucidate the complicated relationship between gut bacteria and host social behavior. In a top-down approach, researchers have attempted to correlate behavioral abnormalities with altered gut microbial profiles in rodent models of ASD, including BTBR mice, maternal immune activation (MIA), maternal valproic acid (VPA) and maternal high-fat diet (MHFD) offspring. In a bottom-up approach, researchers use germ-free (GF) animals, antibiotics, probiotics or pathogens to manipulate the intestinal environment and ascertain effects on social behavior. The combination of both approaches will hopefully pinpoint specific bacterial communities that control host social behavior. Further discussion of how brain development and circuitry is impacted by depletion of gut microbiota is also included. The converging evidence strongly suggests that gut microbes affect host social behavior through the alteration of brain neural circuits. Investigation of intestinal microbiota and host social behavior will unveil any bidirectional communication between the gut and brain and provide alternative therapeutic targets for ASD. (c) 2018 Wiley Periodicals, Inc. Develop Neurobiol, 2018.
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12. Park MTM, Raznahan A, Shaw P, Gogtay N, Lerch JP, Chakravarty MM. {{Neuroanatomical phenotypes in mental illness: identifying convergent and divergent cortical phenotypes across autism, ADHD and schizophrenia}}. {Journal of psychiatry & neuroscience : JPN}. 2018; 43(2): 170094.
BACKGROUND: There is evidence suggesting neuropsychiatric disorders share genomic, cognitive and clinical features. Here, we ask if autism-spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD) and schizophrenia share neuroanatomical variations. METHODS: First, we used measures of cortical anatomy to estimate spatial overlap of neuroanatomical variation using univariate methods. Next, we developed a novel methodology to determine whether cortical deficits specifically target or are « enriched » within functional resting-state networks. RESULTS: We found cortical anomalies were preferentially enriched across functional networks rather than clustering spatially. Specifically, cortical thickness showed significant enrichment between patients with ASD and those with ADHD in the default mode network, between patients with ASD and those with schizophrenia in the frontoparietal and limbic networks, and between patients with ADHD and those with schizophrenia in the ventral attention network. Networks enriched in cortical thickness anomalies were also strongly represented in functional MRI results (Neurosynth; r = 0.64, p = 0.032). LIMITATIONS: We did not account for variable symptom dimensions and severity in patient populations, and our cross-sectional design prevented longitudinal analyses of developmental trajectories. CONCLUSION: These findings suggest that common deficits across neuropsychiatric disorders cannot simply be characterized as arising out of local changes in cortical grey matter, but rather as entities of both local and systemic alterations targeting brain networks.
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13. Plavnick JB, Duenas AD. {{Brief Report: Effects of Video-Based Group Instruction on Spontaneous Social Interaction of Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
Four adolescents with autism spectrum disorder (ASD) were taught to interact with peers by asking social questions or commenting about others during game play or group activities. Participants were shown a video model and then given an opportunity to perform the social behavior depicted in the model when playing a game with one another. All participants demonstrated an increase in both social interaction skills, replicating previous research on video-based group instruction for adolescents with ASD. The results suggest the procedure may be useful for teaching social skills that occur under natural conditions.
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14. Qiu S, Li Y, Li Y, Zhong W, Shi M, Zhao Q, Zhang K, Wang Y, Lu M, Zhu X, Jiang H, Yu Y, Cheng Y, Liu Y. {{Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder}}. {Gene}. 2018; 651: 100-5.
Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD. We investigated the association between polymorphisms in SHANK3 and ASD in the Northeast Han Chinese population. A total of 470 subjects (229 cases and 241 controls) were enrolled in our case-control study. Five single nucleotide polymorphisms (SNPs) (rs756638, rs4824116, rs76268556, rs9616915, and rs75767639) in SHANK3 were selected and genotyped. Our study did not identify a significant association of SHANK3 SNPs with ASD in the Northeast Han Chinese population. Future studies need to test more SHANK3 SNPs in large sample to demonstrate the association between SNPs in SHANK3 and ASD.
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15. Ring M, Gaigg SB, de Condappa O, Wiener JM, Bowler DM. {{Spatial navigation from same and different directions: The role of executive functions, memory and attention in adults with autism spectrum disorder}}. {Autism Res}. 2018.
To resolve some of the inconsistencies in existing research into spatial navigation in autism spectrum disorder (ASD), we tested two large age- and ability-matched groups of ASD and typically developing (TD) participants for their spatial navigation abilities in a route learning task, which has been shown to shed light on the strategies participants employ when navigating complex environments. Participants studied a route through a virtual maze by watching a short video of a first-person perspective navigating a maze. The maze included four four-way intersections that were each marked with two unique landmarks in two corners of the intersection. At test, static images of the intersections, either as seen during the video or as approached from a different direction, were presented and participants had to indicate in which direction they would need to travel (straight, left, or right) in order to follow the originally studied route. On both types of test trials, the ASD group performed worse and their difficulties were related to reduced cognitive flexibility. Eye-movement data and follow-up item-memory tests suggested that navigation difficulties may have been related to differences in attention during encoding and less spontaneous use of landmarks as cues for navigation. Spatial navigation performance was best predicted by memory for landmarks as well as by executive functions. The results are discussed in relation to theories of underlying navigation-related brain regions. More research is needed to disentangle the influence of executive functions, memory and attention on spatial navigation. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Navigating an environment is difficult for people with ASD independent of whether they are travelling in the same or in a different direction from that which they originally studied. The present study suggests that flexibility in alternating travel directions, difficulties in remembering landmarks as well as reduced attention to landmarks while learning a route play a role in the navigation difficulties in ASD. Guidance at route learning might help autistic individuals to improve their ability to navigate in their environments.
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16. Sasson NJ, Morrison KE, Pinkham AE, Faso DJ, Chmielewski M. {{Brief Report: Adults with Autism are Less Accurate at Predicting How Their Personality Traits are Evaluated by Unfamiliar Observers}}. {J Autism Dev Disord}. 2018.
Social cognitive impairments in autism spectrum disorder (ASD) are well-documented, yet little research has examined whether ASD is also characterized by difficulties in meta-perception, or the ability to gauge how one is perceived. In this study, ASD and TD adults (N = 22) largely did not differ on the self-perception of their personality traits or on how they expected to be perceived by unfamiliar observers. However adults with ASD were rated less favorably by TD observers (N = 412) on 19 out of 20 personality items, and adults with ASD were less accurate at predicting how they would be perceived. These findings suggest impaired meta-perception in ASD that may serve as a potential mechanism through which reduced social cognitive ability contributes to social impairment.
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17. Schwartz S, Shinn-Cunningham B, Tager-Flusberg H. {{Meta-analysis and systematic review of the literature characterizing auditory mismatch negativity in individuals with autism}}. {Neurosci Biobehav Rev}. 2018; 87: 106-17.
A number of past studies have used mismatch negativity (MMN) to identify auditory processing deficits in individuals with autism spectrum disorder (ASD). Our meta-analysis compared MMN responses for individuals with ASD and typically developing controls (TD). We analyzed 67 experiments across 22 publications that employed passive, auditory-based MMN paradigms with ASD and TD participants. Most studies lacked design characteristics that would lead to an accurate description of the MMN. Variability between experiments measuring MMN amplitude was smaller when limited to studies that counterbalanced stimuli. Reduced MMN amplitude was found among young children with ASD compared to controls and in experiments that used nonspeech sounds. Still, few studies included adolescents or those with below-average verbal IQ. Most studies suffered from small sample sizes, and aggregating these data did not reveal significant group differences. This analysis points to a need for research focused specifically on understudied ASD samples using carefully designed MMN experiments. Study of individual differences in MMN may provide further insights into distinct subgroups within the heterogeneous ASD population.
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18. Sumiya M, Igarashi K, Miyahara M. {{Emotions surrounding friendships of adolescents with autism spectrum disorder in Japan: A qualitative interview study}}. {PLoS One}. 2018; 13(2): e0191538.
Emotions are embedded in culture and play a pivotal role in making friends and interacting with peers. To support the social participation of students with autism spectrum disorders (ASD) it is essential to understand their emotional life in the context of ethnic and school cultures. We are particularly interested in how anxiety and loneliness are experienced in developing and maintaining friendships in the daily encounters of adolescents with ASD in the specific context of Japanese schools, because these emotions could serve either as facilitators or barriers to social interaction, depending on how individuals manage them. The present qualitative study investigated perceptions of emotions related to friendship in the everyday school life of 11 adolescents with ASD in Japan. Data were collected by means of semi-structured individual interviews, which revealed a wide range of motivations for socialization, limited future prospects to deepen friendships, robust self-awareness of one’s own social challenges, and conscious efforts to cope with these challenges. An inductive approach to data analysis resulted in four themes: social motivation, loneliness, anxiety, and distress. To our knowledge this is the first study to uncover the rich emotional life of adolescents with ASD in the context of their friendships in an Asian culture.
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19. Talbot ZN, Sparks FT, Dvorak D, Curran BM, Alarcon JM, Fenton AA. {{Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome}}. {Neuron}. 2018; 97(3): 684-97.e4.
Silence of FMR1 causes loss of fragile X mental retardation protein (FMRP) and dysregulated translation at synapses, resulting in the intellectual disability and autistic symptoms of fragile X syndrome (FXS). Synaptic dysfunction hypotheses for how intellectual disabilities like cognitive inflexibility arise in FXS predict impaired neural coding in the absence of FMRP. We tested the prediction by comparing hippocampus place cells in wild-type and FXS-model mice. Experience-driven CA1 synaptic function and synaptic plasticity changes are excessive in Fmr1-null mice, but CA1 place fields are normal. However, Fmr1-null discharge relationships to local field potential oscillations are abnormally weak, stereotyped, and homogeneous; also, discharge coordination within Fmr1-null place cell networks is weaker and less reliable than wild-type. Rather than disruption of single-cell neural codes, these findings point to invariant tuning of single-cell responses and inadequate discharge coordination within neural ensembles as a pathophysiological basis of cognitive inflexibility in FXS. VIDEO ABSTRACT.
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20. Tomchek SD, Little LM, Myers J, Dunn W. {{Sensory Subtypes in Preschool Aged Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Given the heterogeneity of autism spectrum disorder (ASD), research has investigated how sensory features elucidate subtypes that enhance our understanding of etiology and tailored treatment approaches. Previous studies, however, have not integrated core developmental behaviors with sensory features in investigations of subtypes in ASD. Therefore, we used latent profile analysis to examine subtypes in a preschool aged sample considering sensory processing patterns in combination with social-communication skill, motor performance, and adaptive behavior. Results showed four subtypes that differed by degree and quality of sensory features, age and differential presentation of developmental skills. Findings partially align with previous literature on sensory subtypes and extends our understanding of how sensory processing aligns with other developmental domains in young children with ASD.
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21. Vuillaume ML, Jeanne M, Xue L, Blesson S, Denomme-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bezieau S, Rondard P, Laumonnier F, Toutain A. {{A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype}}. {Annals of neurology}. 2018; 83(2): 437-9.
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22. Zhang R, Zhou J, Ren J, Sun S, Di Y, Wang H, An X, Zhang K, Zhang J, Qian Z, Shi M, Qiao Y, Ren W, Tian Y. {{Transcriptional and splicing dysregulation in the prefrontal cortex in valproic acid rat model of autism}}. {Reproductive toxicology (Elmsford, NY)}. 2018; 77: 53-61.
Gene-environmental interaction could be the major cause of autism. The aim of the current study is to detect the effects of valproic acid on gene expression profiles and alternatively spliced genes in the prefrontal cortex in rat models of autism. Female rats received a single intraperitoneal injection of 600mg/kg valproic acid at day 12.5 post-conception, and controls were injected with saline. Only male offspring were employed in the current study. RNA sequencing was used to investigate transcriptome in the prefrontal cortex of VPA-exposed rats. There were 3228 differently expressed genes and 637 alternative spliced genes, in VPA rats compared to controls. Pathways enrichment among the differently expressed genes and alternatively spliced genes were associated with neurological diseases and neural system development. The results implied VPA affected transcriptional and splicing events genome-wide and the transcriptional and splicing events may be associated with the autistic behaviors of VPA rats.
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23. Zhou B, Xu Q, Li H, Zhang Y, Wang Y, Rogers SJ, Xu X. {{Effects of Parent-Implemented Early Start Denver Model Intervention on Chinese Toddlers with Autism Spectrum Disorder: A Non-Randomized Controlled Trial}}. {Autism Res}. 2018.
To evaluate the effects of a 26-week, high-intensity, parent-implemented Early Start Denver Model (P-ESDM) intervention on developmental outcomes, severity of autism spectrum disorder (ASD), and parental stress of ASD toddlers in China. Subjects in P-ESDM group (n = 23) were recruited from 1.5- to 2.5-year-old toddlers who were screened positive in Xuhui and Minhang Districts and were diagnosed with ASD. A community (comparison) group of age-matched toddlers with ASD (n = 20) was recruited from other areas. Subjects of the P-ESDM group attended 1.5-hr parent coaching per week for 26 weeks, and those in the community group received interventions available from communities. Assessments were conducted at baseline (T1) and 26 weeks later (T2). After adjusting for baseline differences between the two groups, P-ESDM group demonstrated greater improvement than the community group in general development, especially in Language domain. Neither group demonstrated significant change in ASD severity, but the P-ESDM group showed greater improvement in social affect, parent-reported social communication and symbolic play than community group did. Finally, parents in P-ESDM group experienced decreased parenting stress while those in community group showed an opposite trend, though the differences did not reach significant association with the P-ESDM intervention. Chinese toddlers with ASD receiving 26 weeks of P-ESDM via regular coaching sessions showed significant greater improvement than those receiving community interventions in multiple aspects of development including social communications. These findings add support to the importance of providing early screening, diagnosis, and immediate referral for evidence-based interventions to improve outcome of young children with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The development of early screening and diagnosis of autism spectrum disorder (ASD) in China has highlighted the importance of early intervention for young children with ASD. Our current study demonstrated that parent-implemented Early Start Denver Model (P-ESDM) via coaching from professionals improved developmental outcomes, especially in the language domain, and social communicational behaviors of Chinese toddlers with ASD. P-ESDM may help parents in China provide effective early intervention to their children with ASD via improving their skills when they are still at a waiting list for services or lack access to intervention, and has the potential to alleviate their parenting stress.
