1. {{Erratum to article « Sensitivity to Audio-Visual Synchrony and Its Relation to Language Abilities in Children with ASD » Autism Research, 10.1002/aur.1918}}. {Autism Res}. 2018; 11(5): 811-2.
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2. Tanigawa J, Kagitani-Shimono K, Matsuzaki J, Ogawa R, Hanaie R, Yamamoto T, Tominaga K, Nabatame S, Mohri I, Taniike M, Ozono K. {{Atypical auditory language processing in adolescents with autism spectrum disorder}}. {Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology}. 2018.
OBJECTIVE: Individuals with autism spectrum disorder (ASD) often show characteristic differences in auditory processing. To clarify the mechanisms underlying communication impairment in ASD, we examined auditory language processing with both anatomical and functional methods. METHODS: We assessed the language abilities of adolescents with ASD and typically developing (TD) adolescents, and analyzed the surface-based morphometric structure between the groups using magnetic resonance imaging. Furthermore, we measured cortical responses to an auditory word comprehension task with magnetoencephalography and performed network-based statistics using the phase locking values. RESULTS: We observed no structural differences between the groups. However, the volume of the left ventral central sulcus (vCS) showed a significant correlation with linguistic scores in ASD. Moreover, adolescents with ASD showed weaker cortical activation in the left vCS and superior temporal sulcus. Furthermore, these regions showed differential correlations with linguistic scores between the groups. Moreover, the ASD group had an atypical gamma band (25-40Hz) network centered on the left vCS. CONCLUSIONS: Adolescents with ASD showed atypical responses on the auditory word comprehension task and functional brain differences. SIGNIFICANCE: Our results suggest that phonological processing and gamma band cortical activity play a critical role in auditory language processing-related pathophysiology in adolescents with ASD.
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3. Morrison S, Armitano CN, Raffaele CT, Deutsch SI, Neumann SA, Caracci H, Urbano MR. {{Neuromotor and cognitive responses of adults with autism spectrum disorder compared to neurotypical adults}}. {Experimental brain research}. 2018.
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, whose core symptom domains include impaired social communication and narrowed interests and/or repetitive behaviors; in addition, deficits of general cognition, neuromotor function, and movement ability can be observed. This study was designed to examine differences in neuromotor and cognitive functions for a group of young adults with ASD and age-matched controls. It was also of interest to assess whether changes in the intra-individual variability (IIV) of these selected neuromotor and cognitive tasks also occurred. Increased IIV in persons with ASD may reveal important organizational features of their neuromotor system that differ from neurotypical controls. Twenty neurotypical adult individuals (24.3 +/- 2.8 years) and twenty adults with a clinician-assigned diagnosis of ASD (21.2 +/- 4.4 years) participated in this study. Specific cognitive and motor assessments included Trails Making Tests A&B, Symbol Digit Modalities Test, Purdue Pegboard Test, simple reaction time, finger tapping, hand grip strength, balance, and gait. Results revealed that the ASD adults exhibited decreased upper limb strength and slower responses for finger tapping, hand dexterity, reaction times, and gait compared to the non-ASD controls. The general slowing of motor responses for the persons with ASD was also associated with increased within-subject variability during the reaction time, finger tapping, hand grip, and gait assessments compared to neurotypical adults, illustrating that IIV measures may be a useful marker of widespread neuromotor dysfunction for adults with ASD. Overall, these findings are consistent with clinical observations that abnormalities of movement performance and cognitive performance are an associated feature of ASD in young adults.
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4. Hagmeyer S, Sauer AK, Grabrucker AM. {{Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome}}. {Front Synaptic Neurosci}. 2018; 10: 11.
The loss of one copy of SHANK3 (SH3 and multiple ankyrin repeat domains 3) in humans highly contributes to Phelan McDermid syndrome (PMDS). In addition, SHANK3 was identified as a major autism candidate gene. Interestingly, the protein encoded by the SHANK3 gene is regulated by zinc. While zinc deficiency depletes synaptic pools of Shank3, increased zinc levels were shown to promote synaptic scaffold formation. Therefore, the hypothesis arises that patients with PMDS and Autism caused by Shankopathies, having one intact copy of SHANK3 left, may benefit from zinc supplementation, as elevated zinc may drive remaining Shank3 into the post-synaptic density (PSD) and may additional recruit Shank2, a second zinc-dependent member of the SHANK gene family. Further, elevated synaptic zinc levels may modulate E/I ratios affecting other synaptic components such as NMDARs. However, several factors need to be considered in relation to zinc supplementation such as the role of Shank3 in the gastrointestinal (GI) system-the location of zinc absorption in humans. Therefore, here, we briefly discuss the prospect and impediments of zinc supplementation in disorders affecting Shank3 such as PMDS and propose a model for most efficacious supplementation.
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5. Veerappan VD, Sweetha B, Kavitha HR, Sivalingam B, Nambi S, Pauline L. {{Two-Year Follow-up of Isolated Epileptiform Discharges in Autism: An Endophenotypic Biomarker?}}. {Indian journal of psychological medicine}. 2018; 40(3): 219-24.
Context: A significant subset of autistic children exhibit abnormal isolated epileptiform discharges (IEDs) in the absence of clinical epilepsy. The etiological significance of such IEDs is under much debate. Aims: The aim is to study the relationship between IEDs with risk factors, clinical severity, behavioral problems, and social-quotient and follow-up for the occurrence of new seizures. Settings and Design: This study was a prospective double-blind comparative study of autistic children with and without IEDs. Subjects and Methods: All autistic children attending Child Psychiatry Department of tertiary care postgraduate teaching hospital in April 2013 were included in the study. Electroencephalography, risk factors, and clinical severity were assessed. The same cohort of 72 children was followed for 2 years and reassessed. Statistical Analysis Used: Independent sample t-test, Chi-square test, Pearson correlation, and linear by linear association were the statistical methods used. Results: Twenty-four (42%) of the followed up sample exhibited IEDs. 10.52% had converted to clinical seizures within the follow-up period. While there was no difference between risk factors and age at diagnosis between the IED and non-IED groups, there was a significant difference between disease severity, behavioral problems and social quotient between the groups. Conclusions: IED in a subgroup of autistic children point to more severe illness, severe behavioral problems, and severe social impairment over a 2-year follow-up period. Can IED be considered a neurobehavioral endophenotype in autism?
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6. Lopez K, Magana S. {{Perceptions of Family Problems and Pessimism Among Latina and Non-Latina White Mothers Raising Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
To address the limited research on diverse families of children with ASD, we examined the impact of ASD on 46 Latina and 56 non-Latina White mothers from a resiliency perspective. We explored perceptions of family problems, optimism and pessimism among mothers of child with ASD between 1 and 22 years old. Mothers were recruited through support groups and listservs. Univariate and multivariate analyses were conducted. Results indicated fewer perceived family problems and less pessimism about the child’s future among Latina mothers. We found maternal optimism and family cohesion were associated with perceived family problems and mother’s pessimism about the child’s future. Understanding the impact of ASD among diverse families will aid in developing appropriate services that enhances family strengths.
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7. DeThorne LS, Ceman S. {{Genetic testing and autism: Tutorial for communication sciences and disorders}}. {J Commun Disord}. 2018; 74: 61-73.
This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.
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8. Fietz J, Valencia N, Silani G. {{Alexithymia and autistic traits as possible predictors for traits related to depression, anxiety, and stress: A multivariate statistical approach}}. {Journal of evaluation in clinical practice}. 2018.
RATIONALE, AIMS, AND OBJECTIVES: Our study focused on the general population and explored the relationships between autistic traits and alexithymia, on the one hand, and traits related to depression, anxiety, and stress, on the other, using a multivariate statistical approach. In previous research, autistic traits and alexithymia have been linked to these traits both in clinical populations and in the general population. We also investigated a possible multiplicative effect of autistic traits and alexithymia and attempted to determine which of these two variables is the better predictor for health outcomes. METHODS: An online survey was conducted, and 302 participants were included in the statistical analysis. A structural equation modelling approach was chosen, and a model based on prior findings was designed and tested by using IBM SPSS AMOS 21. RESULTS: The results showed significant, medium-sized effects of alexithymia on depression, anxiety, and stress. Additionally, a medium-sized significant effect of autistic traits on depression, a small significant effect on stress, and a small nonsignificant effect on anxiety were found. The interaction term of alexithymia and autistic traits had no significant effects on any of the endogenous variables. CONCLUSIONS: Alexithymia can be considered the better predictor for anxiety in this sample, and it is unlikely that a multiplicative effect of alexithymia and autistic traits exists. The use of multivariate statistical methods provided additional information for understanding the investigated constructs and their interdependence.
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9. Ridderinkhof A, de Bruin EI, Blom R, Bogels SM. {{Mindfulness-Based Program for Children with Autism Spectrum Disorder and Their Parents: Direct and Long-Term Improvements}}. {Mindfulness}. 2018; 9(3): 773-91.
A combined mindfulness-based program for children and their parents (MYmind) was beneficial for adolescents with autism spectrum disorder (ASD). In this study, we investigated whether this program is also beneficial for younger children with ASD, whether effects last on the long-term, and whether it reduces common comorbid problems. Forty-five children referred with ASD aged 8 until 19 years old, and their parents participated. Repeated measures of children’s and parents’ social communication problems, emotional and behavioral functioning, mindful awareness, and of parenting were conducted pre-intervention, post intervention, 2-month follow-up, and 1-year follow-up. While children did not report significant changes in mindful awareness, their social communication problems decreased, and their emotional and behavioral functioning improved. Results were not consistent at each occasion; improvements reported by children were most substantial at a 2-month follow-up and only partly remained at a 1-year follow-up, while all children’s improvements as reported by parents were present on all occasions. Parents themselves reported improved emotional and behavioral functioning, improved parenting, and increased mindful awareness on all occasions. Parents’ social communication problems reduced only directly after the intervention. Most improvements were supported by the qualitative investigation of children’s and parents’ experienced change as reported on open-ended questions. This study suggests that children, including adolescents, with ASD and their parents can benefit from a mindfulness-based program with parallel sessions for children and parents.
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10. Li J, Hu S, Zhang K, Shi L, Zhang Y, Zhao T, Wang L, He X, Xia K, Liu C, Sun Z. {{A comparative study of the genetic components of three subcategories of autism spectrum disorder}}. {Mol Psychiatry}. 2018.
The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) controversially combined previously distinct subcategories of autism spectrum disorder (ASD) into a single diagnostic category. However, genetic convergences and divergences between different ASD subcategories are unclear. By retrieving 1725 exonic de novo mutations (DNMs) from 1628 subjects with autistic disorder (AD), 1873 from 1564 subjects with pervasive developmental disorder not otherwise specified (PDD-NOS), 276 from 247 subjects with Asperger’s syndrome (AS), and 2077 from 2299 controls, we found that rates of putative functional DNMs (loss-of-function, predicted deleterious missense, and frameshift) in all three subcategories were significantly higher than those in control. We then investigated the convergences and divergences of the three ASD subcategories based on four genetic aspects: whether any two ASD subcategories (1) shared significantly more genes with functional DNMs, (2) exhibited similar spatio-temporal expression patterns, (3) shared significantly more candidate genes, and (4) shared some ASD-associated functional pathways. It is revealed that AD and PDD-NOS were broadly convergent in terms of all four genetic aspects, suggesting these two ASD subcategories may be genetically combined. AS was divergent to AD and PDD-NOS for aspects of functional DNMs and expression patterns, whereas AS and AD/PDD-NOS were convergent for aspects of candidate genes and functional pathways. Our results indicated that the three ASD subcategories present more genetic convergences than divergences, favouring DSM-5’s new classification. This study suggests that specifically defined genotypes and their corresponding phenotypes should be integrated analyzed for precise diagnosis of complex disorders, such as ASD.
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11. Nijhof AD, Bardi L, Brass M, Wiersema JR. {{Brain activity for spontaneous and explicit mentalizing in adults with autism spectrum disorder: An fMRI study}}. {Neuroimage Clin}. 2018; 18: 475-84.
The socio-communicative difficulties of individuals with autism spectrum disorder (ASD) are hypothesized to be caused by a specific deficit in the ability to represent one’s own and others’ mental states, referred to as Theory of Mind or mentalizing. However, many individuals with ASD show successful performance on explicit measures of mentalizing, and for this reason, the deficit is thought to be better captured by measures of spontaneous mentalizing. While there is initial behavioral support for this hypothesis, spontaneous mentalizing in ASD has not yet been studied at the neural level. Recent findings indicate involvement of the right temporoparietal junction (rTPJ) in both explicit and spontaneous mentalizing (Bardi et al., 2016). In the current study, we investigated brain activation during explicit and spontaneous mentalizing in adults with ASD by means of fMRI. Based on our hypothesis of a core mentalizing deficit in ASD, decreased rTPJ activity was expected for both forms of mentalizing. A group of 24 adults with ASD and 21 neurotypical controls carried out a spontaneous and an explicit version of the same mentalizing task. They watched videos in which both they themselves and another agent formed a belief about the location of an object (belief formation phase). Only in the explicit task version participants were instructed to report the agent’s belief on some trials. At the behavioral level, no group differences were revealed in either of the task versions. A planned region-of-interest analysis of the rTPJ showed that this region was more active for false- than for true-belief formation, independent of task version, especially when the agent’s belief had a positive content (when the agent was expecting the object). This effect of belief was absent in adults with ASD. A whole-brain analysis revealed reduced activation in the anterior middle temporal pole in ASD for false – versus true-belief trials, independent of task version. Our findings suggest neural differences between adults with ASD and neurotypical controls both during spontaneous and explicit mentalizing, and indicate the rTPJ to be crucially involved in ASD. Moreover, the possible role of the anterior middle temporal pole in disturbed mentalizing in ASD deserves further attention. The finding that these neural differences do not necessarily lead to differential performance warrants further research.
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12. Ronconi L, Gori S, Federici A, Devita M, Carna S, Sali ME, Molteni M, Casartelli L, Facoetti A. {{Weak surround suppression of the attentional focus characterizes visual selection in the ventral stream in autism}}. {Neuroimage Clin}. 2018; 18: 912-22.
Neurophysiological findings in the typical population demonstrate that spatial scrutiny for visual selection determines a center-surround profile of the attentional focus, which is the result of recurrent processing in the visual system. Individuals with autism spectrum disorder (ASD) manifest several anomalies in their visual selection, with strengths in detail-oriented tasks, but also difficulties in distractor inhibition tasks. Here, we asked whether contradictory aspects of perception in ASD might be due to a different center-surround profile of their attentional focus. In two experiments, we tested two independent samples of children with ASD, comparing them with typically developing (TD) peers. In Experiment 1, we used a psychophysical task that mapped the entire spatial profile of the attentional focus. In Experiment 2, we used dense-array electroencephalography (EEG) to explore its neurophysiological underpinnings. Experiment 1 results showed that the suppression, surrounding the attentional focus, was markedly reduced in children with ASD. Experiment 2 showed that the center-surround profile in TD children resulted in a modulation of the posterior N2 ERP component, with cortical sources in the lateral-occipital and medial/inferior temporal areas. In contrast, children with ASD did not show modulation of the N2 and related activations in the ventral visual stream. Furthermore, behavioural and neurophysiological measures of weaker suppression predicted more severe autistic symptomatology. The present findings, showing an altered center-surround profile during attentional selection, give an important insight to understand superior visual processing in autism as well as the experiencing of sensory overload.
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13. Farmer CA, Chilakamarri P, Thurm AE, Swedo SE, Holmes GL, Buckley AW. {{Spindle activity in young children with autism, developmental delay, or typical development}}. {Neurology}. 2018; 91(2): e112-e22.
OBJECTIVE: To determine whether spindle activity differs in young children with and without autism. METHODS: We investigated differences in spindle density, duration, and oscillatory features in 135 young children with autism, developmental delay without autism (DD), or typical development (TD) and secondarily assessed the dimensional relationship between spindle density and both cognitive ability and social functioning. RESULTS: Compared to TD, both spindle density (Cohen d 0.93, 95% confidence interval [CI] 0.49-1.37) and duration (Cohen d 0.58, 95% CI 0.15-1.01) were significantly decreased in autism. Spindle density was also significantly reduced in autism compared to DD (Cohen d 0.61, 95% CI 0.13-1.09). Decreased spindle frequency in autism compared to both TD (Cohen d 0.47, 95% CI 0.04-0.90) and DD (Cohen d 0.58, 95% CI 0.10-1.06) did not survive correction. The DD group did not differ significantly from the TD group on any spindle parameter. These results, suggesting a relationship between spindle density and autism but not DD, were further illustrated in exploratory analyses, wherein nonverbal ratio IQ (RIQ) and the Vineland Socialization domain standard score were strongly correlated with spindle density in the full sample (r = 0.33, p Lien vers le texte intégral (Open Access ou abonnement)
14. Jewett KA, Lee KY, Eagleman DE, Soriano S, Tsai NP. {{Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice}}. {Neuropharmacology}. 2018; 138: 182-92.
Chronic activity perturbations in neurons induce homeostatic plasticity through modulation of synaptic strength or other intrinsic properties to maintain the correct physiological range of excitability. Although similar plasticity can also occur at the population level, what molecular mechanisms are involved remain unclear. In the current study, we utilized a multielectrode array (MEA) recording system to evaluate homeostatic neural network activity of primary mouse cortical neuron cultures. We demonstrated that chronic elevation of neuronal activity through the inhibition of GABA(A) receptors elicits synchronization of neural network activity and homeostatic reduction of the amplitude of spontaneous neural network spikes. We subsequently showed that this phenomenon is mediated by the ubiquitination of tumor suppressor p53, which is triggered by murine double minute-2 (Mdm2). Using a mouse model of fragile X syndrome, in which fragile X mental retardation protein (FMRP) is absent (Fmr1 knockout), we found that Mdm2-p53 signaling, network synchronization, and the reduction of network spike amplitude upon chronic activity stimulation were all impaired. Pharmacologically inhibiting p53 with Pifithrin-alpha or genetically employing p53 heterozygous mice to enforce the inactivation of p53 in Fmr1 knockout cultures restored the synchronization of neural network activity after chronic activity stimulation and partially corrects the homeostatic reduction of neural network spike amplitude. Together, our findings reveal the roles of both Fmr1 and Mdm2-p53 signaling in the homeostatic regulation of neural network activity and provide insight into the deficits of excitability homeostasis seen when Fmr1 is compromised, such as occurs with fragile X syndrome.
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15. Cardillo R, Menazza C, Mammarella IC. {{Visuoconstructive abilities and visuospatial memory in autism spectrum disorder without intellectual disability: Is the role of local bias specific to the cognitive domain tested?}}. {Neuropsychology}. 2018.
OBJECTIVE: Visuospatial processing in autism spectrum disorder (ASD) without intellectual disability remains only partly understood. The aim of the present study was to investigate global versus local visuospatial processing in individuals with ASD, comparing them with typically developing (TD) controls in visuoconstructive and visuospatial memory tasks. METHOD: There were 21 participants with ASD without intellectual disability, and 21 TD controls matched for chronological age (M = 161.37 months, SD = 38.19), gender, and perceptual reasoning index who were tested. Participants were administered tasks assessing the visuoconstructive domain and involving fine motor skills, and visuospatial memory tasks in which visuospatial information had to be manipulated mentally. RESULTS: Using a mixed-effects model approach, our results showed different effects of local bias in the ASD group, depending on the domain considered: the use of a local approach only emerged for the visuoconstructive domain-in which fine motor skills were involved. CONCLUSIONS: These results seem to suggest that the local bias typical of the cognitive profile of ASD without intellectual disability could be a property of specific cognitive domains rather than a central mechanism. (PsycINFO Database Record
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16. Rodriguez S, Munshey F, Caruso TJ. {{Augmented reality for intravenous access in an autistic child with difficult access}}. {Paediatric anaesthesia}. 2018; 28(6): 569-70.
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17. Cezar LC, Kirsten TB, da Fonseca CCN, de Lima APN, Bernardi MM, Felicio LF. {{Zinc as a therapy in a rat model of autism prenatally induced by valproic acid}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 84(Pt A): 173-80.
Autism is characterized by numerous behavioral impairments, such as in communication, socialization and cognition. Recent studies have suggested that valproic acid (VPA), an anti-epileptic drug with teratogenic activity, is related to autism. In rodents, VPA exposure during pregnancy induces autistic-like effects. Exposure to VPA may alter zinc metabolism resulting in a transient deficiency of zinc. Therefore, we selected zinc as a prenatal treatment to prevent VPA-induced impairments in a rat model of autism. Wistar female rats received either saline solution or VPA (400mg/kg, i.p) on gestational day (GD) 12.5. To test the zinc supplementation effect, after 1h of treatment with saline or VPA, a dose of zinc (2mg/kg, s.c.) was injected. The offspring were tested for abnormal communication behaviors with an ultrasound vocalization task on postnatal day (PND) 11, repetitive behaviors and cognitive ability with a T-maze task on PND 29, and social interaction with a play behavior task on PND 30. Tyrosine hydroxylase protein (TH) expression was evaluated in the striatum. Prenatal VPA decreased ultrasonic vocalization, induced repetitive/restricted behaviors and cognitive inflexibility, impaired socialization, and reduced striatal TH levels compared with control group. Zinc treatment reduced VPA-induced autistic-like behaviors. However, we found no evidence of an effect of zinc on the VPA-induced reduction in TH expression. The persistence of low TH expression in the VPA-Zn group suggests that Zn-induced behavioral improvement in autistic rats may not depend on TH activity.
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18. Joensuu M, Lanoue V, Hotulainen P. {{Dendritic spine actin cytoskeleton in autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 84(Pt B): 362-81.
Dendritic spines are small actin-rich protrusions from neuronal dendrites that form the postsynaptic part of most excitatory synapses. Changes in the shape and size of dendritic spines correlate with the functional changes in excitatory synapses and are heavily dependent on the remodeling of the underlying actin cytoskeleton. Recent evidence implicates synapses at dendritic spines as important substrates of pathogenesis in neuropsychiatric disorders, including autism spectrum disorder (ASD). Although synaptic perturbations are not the only alterations relevant for these diseases, understanding the molecular underpinnings of the spine and synapse pathology may provide insight into their etiologies and could reveal new drug targets. In this review, we will discuss recent findings of defective actin regulation in dendritic spines associated with ASD.
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19. Mossa A, Giona F, Pagano J, Sala C, Verpelli C. {{SHANK genes in autism: Defining therapeutic targets}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 84(Pt B): 416-23.
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20. Wang X, Kery R, Xiong Q. {{Synaptopathology in autism spectrum disorders: Complex effects of synaptic genes on neural circuits}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 84(Pt B): 398-415.
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21. Zhu P, Li J, Zhang L, Liang Z, Tang B, Liao WP, Yi YH, Su T. {{Development-related aberrations in Kv1.1 alpha-subunit exert disruptive effects on bioelectrical activities of neurons in a mouse model of fragile X syndrome}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 84(Pt A): 140-51.
Kv1.1, a Shaker homologue potassium channel, plays a critical role in homeostatic regulation of neuronal excitability. Aberrations in the functional properties of Kv1.1 have been implicated in several neurological disorders featured by neuronal hyperexcitability. Fragile X syndrome (FXS), the most common form of inherited mental retardation, is characterized by hyperexcitability in neural network and intrinsic membrane properties. The Kv1.1 channel provides an intriguing mechanistic candidate for FXS. We investigated the development-related expression pattern of the Kv1.1 alpha-subunit by using a Fmr1 knockout (KO) mouse model of FXS. Markedly decreased protein expression of Kv1.1 was found in neonatal and adult stages when compared to age-matched wild-type (WT) mice. Immunohistochemical investigations supported the delayed development-related increases in Kv1.1 expression, especially in CA3 pyramidal neurons. By applying a Kv1.1-specific blocker, dendrotoxin-kappa (DTX-kappa), we isolated the Kv1.1-mediated currents in the CA3 pyramidal neurons. The isolated DTX-kappa-sensitive current of neurons from KO mice exhibited decreased amplitude, lower threshold of activation, and faster recovery from inactivation. The equivalent reduction in potassium current in the WT neurons following application of the appropriate amount of DTX-kappa reproduced the enhanced firing abilities of KO neurons, suggesting the Kv1.1 channel as a critical contributor to the hyperexcitability of KO neurons. The role of Kv1.1 in controlling neuronal discharges was further supported by the parallel developmental trajectories of Kv1.1 expression, current amplitude, and discharge impacts, with a significant correlation between the amplitude of Kv1.1-mediated currents and Kv1.1-blocking-induced firing enhancement. These data suggest that the expression of the Kv1.1 alpha-subunit has a profound pathological relevance to hyperexcitability in FXS, as well as implications for normal development, maintenance, and control of neuronal activities.
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22. Fulceri F, Tonacci A, Lucaferro A, Apicella F, Narzisi A, Vincenti G, Muratori F, Contaldo A. {{Interpersonal motor coordination during joint actions in children with and without autism spectrum disorder: The role of motor information}}. {Res Dev Disabil}. 2018; 80: 13-23.
BACKGROUND: Kinematics plays a key role in action prediction, imitation and joint action coordination. Despite people with autism spectrum disorder (ASD) show a failure to use kinematic cues during observation and imitation, there is a paucity of studies exploring the role of this dysfunction during joint actions in children with ASD. AIM: To evaluate the interpersonal motor coordination of children with ASD and typically developing (TD) children during a joint action task. METHOD: Twenty-two participants performed two cooperative tasks. In the first one (Clear End-Point), children were provided with a priori information on movement end-point. In the second one (Unclear End-Point), the end-point was unknown and children had to use kinematic cues to accomplish the shared goal. RESULTS: We found no between-group differences in the first task, even if children with ASD displayed greater reaction time variability. In the second task, they showed less accurate and slower movements than TD children. Moreover, their movement features did not differ between the two tasks, whereas TD children showed reduced reaction time variability and number of errors in the second task. CONCLUSION: Children with ASD were impaired in joint action coordination when they had to rely only on kinematic information. They were not able to pay more attention to the kinematic cues in absence of a visual goal.
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23. Hirota T, So R, Kim YS, Leventhal B, Epstein RA. {{A systematic review of screening tools in non-young children and adults for autism spectrum disorder}}. {Res Dev Disabil}. 2018; 80: 1-12.
BACKGROUND: Existing reviews of screening tools for Autism Spectrum Disorder (ASD) focus on young children, and not all screening tools have been examined against validated diagnostic procedures. AIMS: To examine the validity of screening tools for ASD in non-young children and adults to provide clinical recommendations about the use of these tools in a variety of clinical settings. METHODS AND PROCEDURES: Electronic databases, including MEDLINE, EMBASE, PsychINFO, Cochrane Library and CINAHL, were searched through March 2017. Studies examining the validity of ASD screening tools against the Autism Diagnostic Observation Schedule and/or the Autism Diagnostic Interview – Revised in non-young children (age 4 or above) and adults were included. Three authors independently reviewed each article for data extraction and quality assessment. OUTCOMES AND RESULTS: 14 studies met the inclusion criteria, of which 11 studies were with children (4-18 years of age) and 3 studies included adults only (19 years of age and above). Included studies were conducted in a general population/low-risk sample (N=3) and a clinically referred/high-risk sample (N=11). In total 11 tools were included. CONCLUSIONS AND IMPLICATIONS: Only three screening tools (the Autism-Spectrum Quotient, the Social Communication Questionnaire, and the Social Responsiveness Scale) were examined in more than 2 studies. These tools may assist in differentiating ASD from other neurodevelopmental and psychiatric disorders or typically developed children. In young adult populations, the paucity of the existing research in this group limits definitive conclusion and recommendations.
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24. Woodard CR, Chung J. {{Feasibility of a play-based intervention set for toddlers with autism}}. {Res Dev Disabil}. 2018; 80: 24-34.
The Meta-play Method is a play-based, naturalistic set of interventions designed to decrease the symptoms associated with autism in toddlers. The purpose of the present study was to explore the feasibility of using this intervention set with a small group of toddlers and their parents. We selected seven toddlers diagnosed with autism and tested these children for autism severity and severity of repetitive behaviors. Parents were trained on the basic concepts of DBTA and the Meta-play activities. Researchers reviewed the integrity of interventions at once- or twice-monthly home visits for a six-month period, and recorded progress as rated by the parent. Activities were adapted at each visit to the interests and progress of the participating toddler. At the end of six months, autism symptoms and repetitive behavior decreased and parents reported high levels of social validity. Additional aspects of data collection and outcome measures, and suitability of interventions and procedures are discussed. While some outcomes were encouraging, a number of changes are recommended for future research.
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25. Korzeniewski SJ, Allred EN, O’Shea TM, Leviton A, Kuban KCK. {{Elevated protein concentrations in newborn blood and the risks of autism spectrum disorder, and of social impairment, at age 10 years among infants born before the 28th week of gestation}}. {Translational psychiatry}. 2018; 8(1): 115.
Among the 1 of 10 children who are born preterm annually in the United States, 6% are born before the third trimester. Among children who survive birth before the 28th week of gestation, the risks of autism spectrum disorder (ASD) and non-autistic social impairment are severalfold higher than in the general population. We examined the relationship between top quartile inflammation-related protein concentrations among children born extremely preterm and ASD or, separately, a high score on the Social Responsiveness Scale (SRS total score >/=65) among those who did not meet ASD criteria, using information only from the subset of children whose DAS-II verbal or non-verbal IQ was >/=70, who were assessed for ASD, and who had proteins measured in blood collected on >/=2 days (N = 763). ASD (N = 36) assessed at age 10 years is associated with recurrent top quartile concentrations of inflammation-related proteins during the first post-natal month (e.g., SAA odds ratio (OR); 95% confidence interval (CI): 2.5; 1.2-5.3) and IL-6 (OR; 95% CI: 2.6; 1.03-6.4)). Top quartile concentrations of neurotrophic proteins appear to moderate the increased risk of ASD associated with repeated top quartile concentrations of inflammation-related proteins. High (top quartile) concentrations of SAA are associated with elevated risk of ASD (2.8; 1.2-6.7) when Ang-1 concentrations are below the top quartile, but not when Ang-1 concentrations are high (1.3; 0.3-5.8). Similarly, high concentrations of TNF-alpha are associated with heightened risk of SRS-defined social impairment (N = 130) (2.0; 1.1-3.8) when ANG-1 concentrations are not high, but not when ANG-1 concentrations are elevated (0.5; 0.1-4.2).
