1. Alexiou A, Soursou G, Yarla NS, Ashraf GM. {{Proteins commonly linked to Autism Spectrum Disorder and Alzheimer’s Disease}}. {Curr Protein Pept Sci};2017 (Sep 11)
Several years after the first publication of Barker’s Hypothesis the identification of common patterns and pathways between genetic and epigenetic risk factors in neurodegenerative disorders is still an open problem. For the cases of Alzheimer’s disease and Autism and by taking into consideration the increasing number of diagnosed cases globally, scientists focused on commonly expressed and related proteins like Amyloid beta and the mechanisms of their underlying dysfunctionalities. In this review paper, an attempt to specify significant correlations between proteins linked to Autism Spectrum Disorders and Alzheimer’s Disease is presented. Both diseases are highlighted with an emphasis on the macromolecules that play a fundamental role in their development. These proteins are described and analyzed concerning the underlying pathology of these diseases.
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2. Beadle-Brown J, Wilkinson D, Richardson L, Shaughnessy N, Trimingham M, Leigh J, Whelton B, Himmerich J. {{Imagining Autism: Feasibility of a drama-based intervention on the social, communicative and imaginative behaviour of children with autism}}. {Autism};2017 (Sep 01):1362361317710797.
We report the feasibility of a novel, school-based intervention, coined ‘Imagining Autism’, in which children with autism engage with drama practitioners though participatory play and improvisation in a themed multi-sensory ‘pod’ resembling a portable, tent-like structure. A total of 22 children, aged 7-12 years, from three UK schools engaged in the 10-week programme. Measures of social interaction, communication and emotion recognition, along with parent and teacher ratings, were collected before and up to 12 months after the intervention. Feasibility was evaluated through four domains: (1) process (recruitment, retention, blinding, inter-rater reliability, willingness of children to engage), (2) resources (space, logistics), (3) management (dealing with unexpected changes, ease of assessment) and (4) scientific (data outcomes, statistical analyses). Overall, the children, parents and teachers showed high satisfaction with the intervention, the amount of missing data was relatively low, key assessments were implemented as planned and evidence of potential effect was demonstrated on several key outcome measures. Some difficulties were encountered with recruitment, test administration, parental response and the logistics of setting up the pod. Following several protocol revisions and the inclusion of a control group, future investigation would be justified to more thoroughly examine treatment effects.
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3. Clark MLE, Vinen Z, Barbaro J, Dissanayake C. {{School Age Outcomes of Children Diagnosed Early and Later with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Sep 14)
Early diagnosis of Autism Spectrum Disorder is considered best practice, increasing access to early intervention. Yet, many children are diagnosed after 3-years. The current study investigated the school age outcomes of children who received an early and later diagnosis of ASD. The cognitive and behavioural outcomes of children diagnosed early (n = 48), were compared to children diagnosed after 3-years (n = 37). Children diagnosed early accessed more intervention, demonstrated better verbal and overall cognition at school age, were more likely to attend mainstream school and required less ongoing support than children diagnosed later. Behavioural differences were not found between groups. Earlier diagnosis is important and is likely to promote more positive outcomes at school age due to increased opportunity for EI.
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4. Denisova K, Zhao G. {{Inflexible neurobiological signatures precede atypical development in infants at high risk for autism}}. {Sci Rep};2017 (Sep 12);7(1):11285.
Variability in neurobiological signatures is ubiquitous in early life but the link to adverse developmental milestones in humans is unknown. We examined how levels of signal and noise in movement signatures during the 1st year of life constrain early development in 71 healthy typically developing infants, either at High or Low familial Risk (HR or LR, respectively) for developing Autism Spectrum Disorders (ASD). Delays in early learning developmental trajectories in HR infants (validated in an analysis of 1,445 infants from representative infant-sibling studies) were predicted by worse stochastic patterns in their spontaneous head movements as early as 1-2 months after birth, relative to HR infants who showed more rapid developmental progress, as well as relative to all LR infants. While LR 1-2 mo-old infants’ movements were significantly different during a language listening task compared to during sleep, HR infants’ movements were more similar during both conditions, a striking lack of diversity that reveals context-inflexible experience of ambient information. Contrary to expectation, it is not the level of variability per se that is particularly detrimental in early life. Rather, inflexible sensorimotor systems and/or atypical transition between behavioral states may interfere with the establishment of capacity to extract structure and important cues from sensory input at birth, preceding and contributing to an atypical brain developmental trajectory in toddlerhood.
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5. Fatemi SH, Folsom TD, Thuras PD. {{Altered subcellular localization of fragile X mental retardation signaling partners and targets in superior frontal cortex of individuals with schizophrenia}}. {Neuroreport};2017 (Sep 11)
Schizophrenia is a severe, debilitating, neurodevelopmental disorder that affects 1% of the world’s population. Recent findings from our laboratory have identified reduced levels of fragile X mental retardation protein (FMRP) and several downstream FMRP targets in superior frontal cortex of individuals with schizophrenia. We hypothesized that altered subcellular expression of FMRP and its signaling partners may explain these changes. In the current study we employed subcellular fractionation and western blotting to determine levels of FMRP, phosphorylated-FMRP as well as selected signaling partners [protein phosphatase 2A catalytic subunit (PP2AC), p70 S6 kinase (p70 S6K), and amyloid-beta A4 precursor protein (APP)] in the total homogenate, nuclear, and rough endoplasmic reticulum fractions in superior frontal cortex of individuals with schizophrenia versus controls (N=12/group). In total homogenate of individuals with schizophrenia, we identified significantly lower levels of FMRP, phosphorylated-FMRP, and PP2AC. In the nuclear fraction of individuals with schizophrenia we found significantly higher levels of PP2AC, p70 S6K, APP 120 kDa, and APP 88 kDa proteins. Finally, in rough endoplasmic reticulum of individuals with schizophrenia, we identified significantly lower protein levels of p70 S6K and APP 120 kDa. These results provide evidence for a potential mechanism to explain altered FMRP expression in schizophrenia.
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6. Gelpi E, Botta-Orfila T, Bodi L, Marti S, Kovacs G, Grau-Rivera O, Lozano M, Sanchez-Valle R, Munoz E, Valldeoriola F, Pagonabarraga J, Tartaglia GG, Mila M. {{Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma}}. {Brain};2017 (Aug 01);140(8):e51.
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7. Glickman G, Harrison E, Dobkins K. {{Vaccination Rates among Younger Siblings of Children with Autism}}. {N Engl J Med};2017 (Sep 14);377(11):1099-1101.
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8. Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM. {{Fragile X testing as a second-tier test}}. {Genet Med};2017 (Sep 14)
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9. Iverson JM, Northrup JB, Leezenbaum NB, Parlade MV, Koterba EA, West KL. {{Early Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Sep 12)
This study examined longitudinal growth in gestures and words in infants at heightened (HR) versus low risk (LR) for ASD. The MacArthur-Bates Communicative Development Inventory was administered monthly from 8 to 14 months and at 18 and 24 months to caregivers of 14 HR infants diagnosed with ASD (HR-ASD), 27 HR infants with language delay (HR-LD), 51 HR infants with no diagnosis (HR-ND), and 28 LR infants. Few differences were obtained between LR and HR-ND infants, but HR-LD and HR-ASD groups differed in initial skill levels and growth patterns. While HR-LD infants grew at rates comparable to LR and HR-ND infants, growth was attenuated in the HR-ASD group, with trajectories progressively diverging from all other groups.
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10. Kang MS, Choi TY, Ryu HG, Lee D, Lee SH, Choi SY, Kim KT. {{Autism-like behavior caused by deletion of vaccinia-related kinase 3 is improved by TrkB stimulation}}. {J Exp Med};2017 (Sep 12)
Vaccinia-related kinases (VRKs) are multifaceted serine/threonine kinases that play essential roles in various aspects of cell signaling, cell cycle progression, apoptosis, and neuronal development and differentiation. However, the neuronal function of VRK3 is still unknown despite its etiological potential in human autism spectrum disorder (ASD). Here, we report that VRK3-deficient mice exhibit typical symptoms of autism-like behavior, including hyperactivity, stereotyped behaviors, reduced social interaction, and impaired context-dependent spatial memory. A significant decrease in dendritic spine number and arborization were identified in the hippocampus CA1 of VRK3-deficient mice. These mice also exhibited a reduced rectification of AMPA receptor-mediated current and changes in expression of synaptic and signaling proteins, including tyrosine receptor kinase B (TrkB), Arc, and CaMKIIalpha. Notably, TrkB stimulation with 7,8-dihydroxyflavone reversed the altered synaptic structure and function and successfully restored autism-like behavior in VRK3-deficient mice. These results reveal that VRK3 plays a critical role in neurodevelopmental disorders and suggest a potential therapeutic strategy for ASD.
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11. Lepper TL, Petursdottir AI. {{Effects of response-contingent stimulus pairing on vocalizations of nonverbal children with autism}}. {J Appl Behav Anal};2017 (Sep 13)
Research on stimulus-stimulus pairing to induce novel vocalizations in nonverbal children has typically employed response-independent pairing (RIP) procedures to condition speech sounds as reinforcers. The purpose of the present study was to evaluate the effects of a response-contingent pairing (RCP) procedure on the vocalizations of three nonverbal boys diagnosed with autism spectrum disorder. During RCP, adult-delivered sounds that were either paired with a preferred item (target sounds) or not (nontarget sounds) were presented contingent on a button-press response. In Experiment 1, RCP was compared with an RIP procedure, in which the timing of sound presentations was yoked to the preceding RCP session. RCP produced a greater effect on all participants’ target vocalizations than RIP. Experiment 2 demonstrated the effects of differential reinforcement of the vocalizations induced in Experiment 1. The results suggest that RCP may develop vocalizations more reliably than RIP procedures.
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12. Najdowski AC, Bergstrom R, Tarbox J, Clair MS. {{Teaching children with autism to respond to disguised mands}}. {J Appl Behav Anal};2017 (Sep 13)
Children with autism spectrum disorder (ASD) often have difficulty inferring the private events of others, including private verbal behavior (e.g., thoughts), private emotional responses, and private establishing operations, often referred to as « perspective taking » by the general psychology community. Children with ASD also have difficulty responding to disguised mands. Skinner’s description of the « disguised mand » is verbal behavior wherein the speaker’s mand directly describes neither its reinforcer nor the corresponding establishing operations. Appropriate responding to disguised mands is required for successful social interaction, making it a social skill worth teaching to children with ASD. We used a nonconcurrent multiple baseline across participants design to investigate the effects of a multiple exemplar training package consisting of rules, role play, and feedback for teaching three boys with ASD to respond to disguised mands. The intervention was effective and generalization to novel disguised mands and people was observed.
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13. Schieve LA, Drews-Botsch C, Harris S, Newschaffer C, Daniels J, DiGuiseppi C, Croen LA, Windham GC. {{Maternal and Paternal Infertility Disorders and Treatments and Autism Spectrum Disorder: Findings from the Study to Explore Early Development}}. {J Autism Dev Disord};2017 (Sep 12)
Previous studies of associations between ASD and conception using assisted reproductive technology (ART) are inconsistent and few studies have examined associations with other infertility treatments or infertility disorders. We examined associations between ASD and maternal/paternal infertility disorders and numerous maternal treatments among 1538 mother-child pairs in the Study to Explore Early Development, a population-based case-control study. ASD was associated with any female infertility diagnosis and several specific diagnoses: blocked tubes, endometriosis, uterine-factor infertility, and polycystic ovarian syndrome. Stratified analyses suggested associations were limited to/much stronger among second or later births. The findings were not explained by sociodemographic factors such as maternal age or education or multiple or preterm birth. ASD was not associated with ART or non-ART infertility treatments.
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14. Shephard E, Tye C, Ashwood KL, Azadi B, Asherson P, Bolton PF, McLoughlin G. {{Resting-State Neurophysiological Activity Patterns in Young People with ASD, ADHD, and ASD + ADHD}}. {J Autism Dev Disord};2017 (Sep 13)
Altered power of resting-state neurophysiological activity has been associated with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), which commonly co-occur. We compared resting-state neurophysiological power in children with ASD, ADHD, co-occurring ASD + ADHD, and typically developing controls. Children with ASD (ASD/ASD + ADHD) showed reduced theta and alpha power compared to children without ASD (controls/ADHD). Children with ADHD (ADHD/ASD + ADHD) displayed decreased delta power compared to children without ADHD (ASD/controls). Children with ASD + ADHD largely presented as an additive co-occurrence with deficits of both disorders, although reduced theta compared to ADHD-only and reduced delta compared to controls suggested some unique markers. Identifying specific neurophysiological profiles in ASD and ADHD may assist in characterising more homogeneous subgroups to inform treatment approaches and aetiological investigations.
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15. Sone J, Nakamura T, Koike H, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. {{Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma}}. {Brain};2017 (Aug 01);140(8):e52.
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16. Suzuki T, Miyaki K, Eguchi H, Tsutsumi A. {{Distribution of autistic traits and their association with sociodemographic characteristics in Japanese workers}}. {Autism};2017 (Sep 01):1362361317716605.
This study aimed to confirm whether autistic traits are normally distributed across a population and to describe their association with the sociodemographic characteristics of Japanese workers. The participants were 2075 workers aged 23-65 years from various parts of Japan. Autistic traits were measured using an abridged Japanese version of the Autism-Spectrum Quotient (AQ-Short). The AQ-Short comprises five subcomponents assessing a fascination for numbers and patterns (numbers/patterns), difficulties with imagination, a preference for routine, difficulties with social skills, and difficulties with switching attention. The five subcomponents of the autistic phenotype as well as the overall autistic phenotype itself were continuously distributed across the sample population of Japanese workers. Men had significantly higher AQ-Short scores than women. AQ-Short scores were not associated with age. Except for the numbers/patterns scores, workers of a lower socioeconomic status had significantly higher AQ-Short scores than their respective counterparts. For the numbers/patterns trait, workers of a higher socioeconomic status scored higher. Workers with low general physical activity had or tended to have higher scores for total and all subcomponent traits, except for the numbers/patterns trait. Generally, the autistic phenotype was more prevalent in workers of a low socioeconomic status, while a particular trait was prevalent among workers of a high socioeconomic status.
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17. Wallingford J, Scott AL, Rodrigues K, Doering LC. {{Altered Developmental Expression of the Astrocyte-Secreted Factors Hevin and SPARC in the Fragile X Mouse Model}}. {Front Mol Neurosci};2017;10:268.
Astrocyte dysfunction has been indicated in many neurodevelopmental disorders, including Fragile X Syndrome (FXS). FXS is caused by a deficiency in fragile X mental retardation protein (FMRP). FMRP regulates the translation of numerous mRNAs and its loss disturbs the composition of proteins important for dendritic spine and synapse development. Here, we investigated whether the astrocyte-derived factors hevin and SPARC, known to regulate excitatory synapse development, have altered expression in FXS. Specifically, we analyzed the expression of these factors in wild-type (WT) mice and in fragile X mental retardation 1 (Fmr1) knock-out (KO) mice that lack FMRP expression. Samples were collected from the developing cortex and hippocampus (regions of dendritic spine abnormalities in FXS) of Fmr1 KO and WT pups. Hevin and SPARC showed altered expression patterns in Fmr1 KO mice compared to WT, in a brain-region specific manner. In cortical tissue, we found a transient increase in the level of hevin in postnatal day (P)14 Fmr1 KO mice, compared to WT. Additionally, there were modest decreases in Fmr1 KO cortical levels of SPARC at P7 and P14. In the hippocampus, hevin expression was much lower in P7 Fmr1 KO mice than in WT. At P14, hippocampal hevin levels were similar between genotypes, and by P21 Fmr1 KO hevin expression surpassed WT levels. These findings imply aberrant astrocyte signaling in FXS and suggest that the altered expression of hevin and SPARC contributes to abnormal synaptic development in FXS.
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18. Weiss JA, Isaacs B, Diepstra H, Wilton AS, Brown HK, McGarry C, Lunsky Y. {{Health Concerns and Health Service Utilization in a Population Cohort of Young Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Sep 13)
Individuals with autism spectrum disorder (ASD) have many health needs that place demands on the health service sector. This study used administrative data to compare health profiles in young adults 18-24 years of age with ASD to peers with and without other developmental disability. Young adults with ASD were more likely to have almost all the examined clinical health issues and health service use indicators compared to peers without developmental disability. They were more likely to have at least one psychiatric diagnosis, and visit the family physician, pediatrician, psychiatrist, and emergency department for psychiatric reasons, compared to peers with other developmental disability. Planning for the mental health care of transition age adults with ASD is an important priority for health policy.
