1. Al-Mazeedi SH, Al-Ayadhi LY. {{Plasma levels of Alpha and Gamma Synuclein in Autism Spectrum Disorder: A Severity Indicator}}. {Medical principles and practice : international journal of the Kuwait University, Health Science Centre}. 2020.
OBJECTIVES: To correlate plasma levels of α-synuclein and γ-synuclein in ASD children in order to elucidate their possible contribution to the pathogenesis of ASD and to study their association with the severity of the disorder. SUBJECTS AND METHODS: plasma level of Alpha and Gamma Synuclein in 38 male children diagnosed with autism spectrum disorder (ASD) compared with 40 healthy age-matched male children by using enzyme linked immunosorbent assay (ELISA). RESULTS: Our results showed that plasma levels of α-synuclein (18.02 ± 5.3 pg/mL) were significantly higher in ASD children compared to control children (14.39 ± 2 pg/mL) and plasma levels of γ-synuclein were decreased in ASD group (23.74 ± 7.7 pg/mL) compared to control group (32.40 ± 6.8 pg/mL) (p<0.0001). Our data also indicates that plasma levels of both α-synuclein and γ-synuclein are significantly associated with the severity of ASD. CONCLUSIONS: Our study showed that alteration in synaptic proteins Alpha and Gamma Synuclein might be associated with ASD pathogenesis and might be an indicator of the severity of the disorder. Lien vers le texte intégral (Open Access ou abonnement)
2. Banke TG, Barria A. {{Transient Enhanced GluA2 Expression in Young Hippocampal Neurons of a Fragile X Mouse Model}}. {Front Synaptic Neurosci}. 2020; 12: 588295.
AMPA-type glutamate receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits and play important roles in synaptic transmission and plasticity. Here, we have investigated the development of AMPAR-mediated synaptic transmission in the hippocampus of the Fmr1 knock-out (KO) mouse, a widely used model of Fragile X syndrome (FXS). FXS is the leading monogenic cause of intellectual disability and autism spectrum disorders (ASD) and it is considered a neurodevelopmental disorder. For that reason, we investigated synaptic properties and dendritic development in animals from an early stage when synapses are starting to form up to adulthood. We found that hippocampal CA1 pyramidal neurons in the Fmr1-KO mouse exhibit a higher AMPAR-NMDAR ratio early in development but reverses to normal values after P13. This increase was accompanied by a larger presence of the GluA2-subunit in synaptic AMPARs that will lead to altered Ca(2+) permeability of AMPARs that could have a profound impact upon neural circuits, learning, and diseases. Following this, we found that young KO animals lack Long-term potentiation (LTP), a well-understood model of synaptic plasticity necessary for proper development of circuits, and exhibit an increased frequency of spontaneous miniature excitatory postsynaptic currents, a measure of synaptic density. Furthermore, post hoc morphological analysis of recorded neurons revealed altered dendritic branching in the KO group. Interestingly, all these anomalies are transitory and revert to normal values in older animals. Our data suggest that loss of FMRP during early development leads to temporary upregulation of the GluA2 subunit and this impacts synaptic plasticity and altering morphological dendritic branching.
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3. Christopoulou M, Voniati L, Drosos K, Armostis S. {{Colorful Semantics in Cypriot-Greek-Speaking Children with Autism Spectrum Disorder}}. {Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)}. 2020: 1-10.
OBJECTIVES: The aims of this study were: (1) to investigate the effect of colorful semantics (CS) on the morphosyntactic and semantic development of Cypriot-Greek (CG)-speaking children with autism spectrum disorder (ASD) to obtain a better understanding of its role in an augmentative communication (AC) intervention program; (2) to address the paucity of intervention tools geared for CG-speaking children with ASD. PARTICIPANTS AND METHODS: The study included 24 boys and 16 girls with ASD, all preschool-aged 4-6 years. All were verbal but with limited production and minimal mean length of utterance. The study followed a randomized control trial design with equally sized experimental and control groups. The experimental group followed a therapeutic program using the AC with a CS protocol, while the control group’s AC intervention did not include the CS protocol. RESULTS: The use of CS significantly improved the children’s semantic and morphosyntactic development. CONCLUSIONS: The intervention results illustrate the effectiveness of CS in this study; however, generalizability of effectiveness to other similar CG-speaking children with ASD requires further evidence.
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4. Clothier J, Absoud M. {{Autism spectrum disorder and kidney disease}}. {Pediatric nephrology (Berlin, Germany)}. 2020.
Neurodevelopmental impairments have been recognised as a major association of paediatric kidney disease and bladder dysfunction, presenting challenges to clinicians and families to provide reasonable adjustments in order to allow access to investigations and treatments. Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterised by impairments in social interaction/communication and repetitive sensory-motor behaviours. Mental health, learning and physical co-morbidities are common. There is emerging evidence that ASD and kidney disease have some overlaps with genetic copy number variants and environmental factors contributing to shared pathogenesis. Prevalence rates of ASD in kidney disease are currently not known. A high index of suspicion of underlying ASD is required when a young person presents with communication difficulties, anxiety or behaviour that challenges, which should then trigger referral for a neurodevelopmental and behavioural assessment. We discuss practical approaches for providing care, which include understanding methods of communication and sensory, behavioural and environmental adaptations.
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5. Demartini B, Nisticò V, Bertino V, Faggioli R, Casiraghi A, Mazza D, Ferrucci R, Priori A, Gambini O. {{Intranasal Oxytocin and Social Interactions in 5 Patients With High-Functioning Autism Spectrum Disorder}}. {Journal of clinical psychopharmacology}. 2021; 41(1): 86-9.
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6. Ferri SL, Dow HC, Schoch H, Youn Lee J, Brodkin ES, Abel T. {{Age- and Sex-Specific Fear Conditioning Deficits in Mice Lacking Pcdh10, an Autism Associated Gene}}. {Neurobiology of learning and memory}. 2020: 107364.
PCDH10 is a gene associated with Autism Spectrum Disorder. It is involved in the growth of thalamocortical projections and dendritic spine elimination. Previously, we characterized Pcdh10 haploinsufficient mice (Pcdh10(+/-) mice) and found male-specific social deficits and dark phase hypoactivity. Pcdh10(+/-) males exhibit increased dendritic spine density of immature morphology, decreased NMDAR expression, and decreased gamma synchronization in the basolateral amygdala (BLA). Here, we further characterize Pcdh10(+/-) mice by testing for fear memory, which relies upon BLA function. We used both male and female Pcdh10(+/-) mice and their wild-type littermates at two ages, juvenile and adult, and in two learning paradigms, cued and contextual fear conditioning. We found that males at both ages and in both assays exhibited fear conditioning deficits, but females were only impaired as adults in the cued condition. These data are further evidence for male-specific alterations in BLA-related behaviors in Pcdh10(+/-) mice and suggest that these mice may be a useful model for dissecting male specific brain and behavioral phenotypes relevant to social and emotional behaviors.
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7. Fóthi Á, Soorya L, Lőrincz A. {{The Autism Palette: Combinations of Impairments Explain the Heterogeneity in ASD}}. {Frontiers in psychiatry}. 2020; 11: 503462.
Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric condition traditionally defined by core symptoms in social behavior, speech/communication, repetitive behavior, and restricted interests. Beyond the core symptoms, autism has strong association with other disorders such as intellectual disability (ID), epilepsy, schizophrenia among many others. This paper outlines a theory of ASD with capacity to connect heterogeneous « core » symptoms, medical and psychiatric comorbidities as well as other etiological theories of autism in a unifying cognitive framework rooted in neuroscience and genetics. Cognition is embedded into an ever-developing structure modified by experiences, including the outcomes of environment influencing behaviors. The key constraint of cognition is that the brain can handle only 7±2 relevant variables at a time, whereas sensory variables, i.e., the number of sensory neurons is orders of magnitude larger. As a result, (a) the extraction, (b) the encoding, and (c) the capability for the efficient cognitive manipulation of the relevant variables, and (d) the compensatory mechanisms that counteract computational delays of the distributed components are critical. We outline our theoretical model to describe a Cartesian Factor (CF) forming, autoencoder-like cognitive mechanism which breaks combinatorial explosion and is accelerated by internal reinforcing machineries and discuss the neural processes that support CF formation. Impairments in any of these aspects may disrupt learning, cognitive manipulation, decisions on interactions, and execution of decisions. We suggest that social interactions are the most susceptible to combinations of diverse small impairments and can be spoiled in many ways that pile up. Comorbidity is experienced, if any of the many potential impairments is relatively strong. We consider component spoiling impairments as the basic colors of autism, whereas the combinations of individual impairments make the palette of autism. We put forth arguments on the possibility of dissociating the different main elements of the impairments that can appear together. For example, impairments of generalization (domain general learning) and impairments of dealing with many variable problems, such as social situations may appear independently and may mutually enhance their impacts. We also consider mechanisms that may lead to protection.
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8. Fu L, Weng J, Feng M, Xiao X, Xiao T, Fu J, Qiu N, Li C, Da Y, Ke X. {{Predictors of Change in Play-Based Communication and Behavior Intervention for High-Risk ASD: The Role of Mother-Child Dyadic Synchrony}}. {Front Pediatr}. 2020; 8: 581893.
Background: Interindividual variability is important in the evolution of adaptative profiles of children with ASD having benefited from an early intervention make up for deficits in communication, language and social interactions. Therefore, this paper aimed to determine the nature of factors influencing the efficacy variability of a particular intervention technique i.e., « Play-based communication and behavior intervention » (PCBI). Methods: The participants comprised 70 13-30-month-old toddlers with ASD enrolled in PCBI for 12 weeks. The Autism Treatment Evaluation Checklist (ATEC) was used to evaluate the efficacy of PCBI. Video recordings of 5 min of free-play before and after PCBI were used to examine behaviors of mothers and children and parent-child dyadic synchrony. Hierarchical multiple regression analyses and machine learning algorithms were performed to explore the effect of these potential predictors (mothers’ factors, children’s factors and videotaped mother-child interaction) of intervention efficacy. Results: The hierarchical regression analysis and the machine learning algorithms indicated that parenting stress, level of completion of training at home and mother-child dyadic synchrony were crucial factors in predicting and monitoring the efficacy of PCBI. Conclusions: In summary, the findings suggest that PCBI could be particularly beneficial to children with ASD who show a good performance in the mother-child dyadic synchrony evaluation. A better dyadic mother-child synchrony could enhance the PCBI efficacy through adapted emotional and behavioral responses of the mother and the child and has a beneficial influence on the child’s psychological development.
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9. Grossi E, Valbusa G, Buscema M. {{Detection of an Autism EEG Signature From Only Two EEG Channels Through Features Extraction and Advanced Machine Learning Analysis}}. {Clinical EEG and neuroscience}. 2020: 1550059420982424.
BACKGROUND AND OBJECTIVE: In 2 previous studies, we have shown the ability of special machine learning systems applied to standard EEG data in distinguishing children with autism spectrum disorder (ASD) from non-ASD children with an overall accuracy rate of 100% and 98.4%, respectively. Since the equipment routinely available in neonatology units employ few derivations, we were curious to check if just 2 derivations were enough to allow good performance in the same cases of the above-mentioned studies. METHODS: A continuous segment of artifact-free EEG data lasting 1 minute in ASCCI format from C3 and C4 EEG channels present in 2 previous studies, was used for features extraction and subsequent analyses with advanced machine learning systems. A features extraction software package (Python tsfresh) applied to time-series raw data derived 1588 quantitative features. A special hybrid system called TWIST (Training with Input Selection and Testing), coupling an evolutionary algorithm named Gen-D and a backpropagation neural network, was used to subdivide the data set into training and testing sets as well as to select features yielding the maximum amount of information after a first variable selection performed with linear correlation index threshold. RESULTS: After this intelligent preprocessing, 12 features were extracted from C3-C4 time-series of study 1 and 36 C3-C4 time-series of study 2 representing the EEG signature. Acting on these features the overall accuracy predictive capability of the best artificial neural network acting as a classifier in deciphering autistic cases from typicals (study 1) and other neuropsychiatric disorders (study 2) resulted in 100 % for study 1 and 94.95 % for study 2. CONCLUSIONS: The results of this study suggest that also a minor part of EEG contains precious information useful to detect autism if treated with advanced computational algorithms. This could allow in the future to use standard EEG from newborns to check if the ASD signature is already present at birth.
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10. Hendriks MHA, Dillen C, Vettori S, Vercammen L, Daniels N, Steyaert J, Op de Beeck H, Boets B. {{Neural processing of facial identity and expression in adults with and without autism: A multi-method approach}}. {Neuroimage Clin}. 2020; 29: 102520.
The ability to recognize faces and facial expressions is a common human talent. It has, however, been suggested to be impaired in individuals with autism spectrum disorder (ASD). The goal of this study was to compare the processing of facial identity and emotion between individuals with ASD and neurotypicals (NTs). Behavioural and functional magnetic resonance imaging (fMRI) data from 46 young adults (aged 17-23 years, N(ASD) = 22, N(NT) = 24) was analysed. During fMRI data acquisition, participants discriminated between short clips of a face transitioning from a neutral to an emotional expression. Stimuli included four identities and six emotions. We performed behavioural, univariate, multi-voxel, adaptation and functional connectivity analyses to investigate potential group differences. The ASD-group did not differ from the NT-group on behavioural identity and expression processing tasks. At the neural level, we found no differences in average neural activation, neural activation patterns and neural adaptation to faces in face-related brain regions. In terms of functional connectivity, we found that amygdala seems to be more strongly connected to inferior occipital cortex and V1 in individuals with ASD. Overall, the findings indicate that neural representations of facial identity and expression have a similar quality in individuals with and without ASD, but some regions containing these representations are connected differently in the extended face processing network.
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11. Herdien L, Pileggi LA, Malcolm-Smith S. {{Leftward cradling bias in males and its relation to autistic traits and lateralised emotion processing}}. {Brain and cognition}. 2020; 147: 105652.
Recent research has identified a leftward cradling bias in males, although males are much less lateralised than females. It has been suggested that on an individual level this leftward bias is strengthened as males acquire caregiving experience. Furthermore, recent explanations propose that leftward cradling bias is facilitated by right-hemispheric specialisation for processing facial emotions. Some have suggested that it is specifically facilitated by right-hemispheric specialisation for basic social-affective processes that underlie our capacity to relate to others. The present study investigated male cradling bias in relation to these three factors. Ninety-eight right-handed males aged 18-56 years were observed across four separate trials of an imaginary cradling scenario. Caregiving experience, attachment style, hemispheric lateralisation for processing facial emotion, and autistic traits were measured. A leftward cradling bias was observed in 72.4% of participants and was not contingent on caregiving experience. Regression analyses revealed that right-hemispheric lateralisation for processing facial emotions and autistic traits were both significant predictors of leftward cradling, while attachment style did not predict leftward cradling. Overall, our findings indicate that the leftward cradling bias in males is not contingent on previous caregiving experience and provide further support for right-hemispheric specialisation and basic social-affective processing explanations.
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12. Joshi G, Wilens T, Firmin ES, Hoskova B, Biederman J. {{Pharmacotherapy of attention deficit/hyperactivity disorder in individuals with autism spectrum disorder: A systematic review of the literature}}. {Journal of psychopharmacology (Oxford, England)}. 2020: 269881120972336.
AIM: To assess the empirical evidence for the treatment of attention deficit/hyperactivity disorder (ADHD) in populations with autism spectrum disorder (ASD). METHODS: A systemic PubMed, PsychINFO, Embase, and Medline database search of peer-reviewed literature was conducted. Included in the review were controlled trials published in English with sample sizes ⩾10 participants examining the safety and efficacy of anti-ADHD medication in ASD populations. Data was extracted on relevant variables of study design, demographics, associated psychopathology, medication dose, efficacy, and tolerability. RESULTS: Nine controlled trials met the inclusion and exclusion criteria: five with methylphenidate, three with atomoxetine, and one with guanfacine. Sample sizes ranged from 10 to 128 with 430 children participating across all the trials. In all the trials, treatment response was significantly superior to placebo. However, almost all trials assessed only hyperactivity, and most included only participants with intellectual disability with high levels of irritability. None of the trials distinguished agitation from hyperactivity. The response on hyperactivity for methylphenidate and atomoxetine was less than that observed in the neurotypical population; however, the response for guanfacine surpassed results observed in neurotypical populations. Treatment-emergent mood lability (i.e. mood dysregulation and mood-related adverse events) was frequently associated with methylphenidate and guanfacine treatments. Worse treatment outcomes were associated with individuals with lower intellectual capability compared with those with higher IQs. CONCLUSIONS: here is a scarcity of controlled trials examining ADHD treatments in ASD populations, particularly in intellectually capable individuals with ASD and in adults. Response to ADHD medications in ASD were adversely moderated by the presence of intellectual disability and mood lability.
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13. Karanth P. {{From Aphasia and Allied disorders to Autism Spectrum Disorders – A Mutualistic Symbiotic Relationship. (A Five Decade Long Journey in Neuro-Communication Disorders)}}. {Annals of Indian Academy of Neurology}. 2020; 23(Suppl 2): S63-s6.
The study of aphasia and the range of allied disorders, that accompany it has provided a rich source of clinical information providing insights in to the complexities of the human brain and how it affects the functioning of the individual, as well as how it influences his experiencing of the world; subsequently verified by more rigorous scientific research. An attempt is made here to document similar clinical insights in to the experiences of children with autism spectrum disorders (ASD), now known to have atypical neuro development; on the basis of clinical observations and self-reports of these children, vetted by the author’s long standing experience of working with those with neurogenic communication disorders, both adult and child. As with the aphasias, these clinical documentations and insights could lead to more carefully controlled research, paving the way for better understanding and interventional support for those with ASD.
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14. Kuroki M, Fukui T. {{Visual Hand Recognition in Hand Laterality and Self-Other Discrimination Tasks: Relationships to Autistic Traits and Positive Body Image}}. {Front Psychol}. 2020; 11: 587080.
In a study concerning visual body part recognition, a « self-advantage » effect, whereby self-related body stimuli are processed faster and more accurately than other-related body stimuli, was revealed, and the emergence of this effect is assumed to be tightly linked to implicit motor simulation, which is activated when performing a hand laterality judgment task in which hand ownership is not explicitly required. Here, we ran two visual hand recognition tasks, namely, a hand laterality judgment task and a self-other discrimination task, to investigate (i) whether the self-advantage emerged even if implicit motor imagery was assumed to be working less efficiently and (ii) how individual traits [such as autistic traits and the extent of positive self-body image, as assessed via the Autism Spectrum Quotient (AQ) and the Body Appreciation Scale-2 (BAS-2), respectively] modulate performance in these hand recognition tasks. Participants were presented with hand images in two orientations [i.e., upright (egocentric) and upside-down (allocentric)] and asked to judge whether it was a left or right hand (an implicit hand laterality judgment task). They were also asked to determine whether it was their own, or another person’s hand (an explicit self-other discrimination task). Data collected from men and women were analyzed separately. The self-advantage effect in the hand laterality judgment task was not revealed, suggesting that only two orientation conditions are not enough to trigger this motor simulation. Furthermore, the men’s group showed a significant positive correlation between AQ scores and reaction times (RTs) in the laterality judgment task, while the women’s group showed a significant negative correlation between AQ scores and differences in RTs and a significant positive correlation between BAS-2 scores and dprime in the self-other discrimination task. These results suggest that men and women differentially adopt specific strategies and/or execution processes for implicit and explicit hand recognition tasks.
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15. Luu J, Jellett R, Yaari M, Gilbert M, Barbaro J. {{A Comparison of Children Born Preterm and Full-Term on the Autism Spectrum in a Prospective Community Sample}}. {Frontiers in neurology}. 2020; 11: 597505.
Introduction: Previous research suggests children diagnosed with autism spectrum disorder (ASD or « autism ») born extremely and very preterm face substantially delayed development than their peers born full-term. Further, children born preterm are proposed to show a unique behavioral phenotype, which may overlap with characteristics of autism, making it difficult to disentangle their clinical presentation. To clarify the presentation of autism in children born preterm, this study examined differences in key indicators of child development (expressive language, receptive language, fine motor, and visual reception) and characteristics of autism (social affect and repetitive, restricted behaviors). Materials and Methods: One fifty-eight children (136 full-term, twenty-two preterm) diagnosed with autism, aged 22-34 months, were identified prospectively using the Social Attention and Communication Surveillance tools during community-based, developmental surveillance checks in the second year of life. Those identified at « high likelihood » of an autism diagnosis were administered the Mullen Scales of Early Learning and the Autism Diagnostic Observation Schedule. Results: The children born preterm and full-term did not differ significantly in their fine motor, visual reception, expressive language, or receptive language skills. No significant differences in social affect and repetitive and restrictive behavior traits were found. Discussion: The findings of this study differs from previous research where children diagnosed with autism born very or extremely preterm were developmentally delayed and had greater autistic traits than their term-born peers. These null findings may relate to the large proportion of children born moderate to late preterm in this sample. This study was unique in its use of a community-based, prospectively identified sample of children diagnosed with autism at an early age. It may be that children in these groups differ from clinic- and hospital-based samples, that potential differences emerge later in development, or that within the autism spectrum, children born preterm and full-term develop similarly. It was concluded that within the current sample, at 2 years of age, children diagnosed with autism born preterm are similar to their peers born full-term. Thus, when clinicians identify characteristics of autism in children born preterm, it is important to refer the child for a diagnostic assessment for autism.
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16. Maras K, Norris JE, Nicholson J, Heasman B, Remington A, Crane L. {{Ameliorating the disadvantage for autistic job seekers: An initial evaluation of adapted employment interview questions}}. {Autism}. 2020: 1362361320981319.
Despite possessing valuable skills, differences in the way that autistic people understand and respond to others in social situations mean that they are frequently disadvantaged in job interviews. We examined how autistic and non-autistic adults compared on standard (unmodified) job interview questions, and then used these findings to develop and evaluate supportive adaptations to questions. Fifty adults (25 autistic, 25 non-autistic) took part in two mock job interviews. Interview 1 provided a baseline measure of performance when answering typical, unmodified interview questions. Employment experts (unaware of participants’ autism diagnoses) rated all interviewees on their responses to each question and their overall impressions of them and then provided feedback about how interviewees could improve and how questions could be adapted to facilitate this. Interviewees also provided feedback about the interview process, from their perspective. Adaptations to the questions were developed, with Interview 2 taking place approximately 6 months later. Results demonstrated that, in Interview 1, employment experts rated autistic interviewees less favourably than non-autistic interviewees. Ratings of both autistic and non-autistic participants’ answers improved in Interview 2, but particularly for autistic interviewees (such that differences between autistic and non-autistic interviewees’ performance reduced in Interview 2). Employers should be aware that adaptations to job interview questions are critical to level the playing field for autistic candidates.
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17. Needham BD, Adame MD, Serena G, Rose DR, Preston GM, Conrad MC, Campbell AS, Donabedian DH, Fasano A, Ashwood P, Mazmanian SK. {{Plasma and Fecal Metabolite Profiles in Autism Spectrum Disorder}}. {Biol Psychiatry}. 2020.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition with hallmark behavioral manifestations including impaired social communication and restricted repetitive behavior. In addition, many affected individuals display metabolic imbalances, immune dysregulation, gastrointestinal dysfunction, and altered gut microbiome compositions. METHODS: We sought to better understand nonbehavioral features of ASD by determining molecular signatures in peripheral tissues through mass spectrometry methods (ultrahigh performance liquid chromatography-tandem mass spectrometry) with broad panels of identified metabolites. Herein, we compared the global metabolome of 231 plasma and 97 fecal samples from a large cohort of children with ASD and typically developing control children. RESULTS: Differences in amino acid, lipid, and xenobiotic metabolism distinguished ASD and typically developing samples. Our results implicated oxidative stress and mitochondrial dysfunction, hormone level elevations, lipid profile changes, and altered levels of phenolic microbial metabolites. We also revealed correlations between specific metabolite profiles and clinical behavior scores. Furthermore, a summary of metabolites modestly associated with gastrointestinal dysfunction in ASD is provided, and a pilot study of metabolites that can be transferred via fecal microbial transplant into mice is identified. CONCLUSIONS: These findings support a connection between metabolism, gastrointestinal physiology, and complex behavioral traits and may advance discovery and development of molecular biomarkers for ASD.
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18. Pecukonis M, Perdue KL, Wong J, Tager-Flusberg H, Nelson CA. {{Exploring the relation between brain response to speech at 6-months and language outcomes at 24-months in infants at high and low risk for autism spectrum disorder: A preliminary functional near-infrared spectroscopy study}}. {Developmental cognitive neuroscience}. 2020; 47: 100897.
Infants at high familial risk for autism spectrum disorder (ASD) are at increased risk for language impairments. Studies have demonstrated that atypical brain response to speech is related to language impairments in this population, but few have examined this relation longitudinally. We used functional near-infrared spectroscopy (fNIRS) to investigate the neural correlates of speech processing in 6-month-old infants at high (HRA) and low risk (LRA) for autism. We also assessed the relation between brain response to speech at 6-months and verbal developmental quotient (VDQ) scores at 24-months. LRA infants exhibited greater brain response to speech in bilateral anterior regions of interest (ROIs) compared to posterior ROIs, while HRA infants exhibited similar brain response across all ROIs. Compared to LRA infants, HRA+ infants who were later diagnosed with ASD had reduced brain response in bilateral anterior ROIs, while HRA- infants who were not later diagnosed with ASD had increased brain response in right posterior ROI. Greater brain response in left anterior ROI predicted VDQ scores for LRA infants only. Findings highlight the importance of studying HRA+ and HRA- infants separately, and implicate a different, more distributed neural system for speech processing in HRA infants that is not related to language functioning.
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19. Petkar MA, Rodrigo T. {{Primary cutaneous malignant melanoma in Rett syndrome – report of a case with nuclear features resembling herpes simplex virus cytopathic effects – a hitherto unrecognized morphological variant}}. {Journal of cutaneous pathology}. 2020.
Rett syndrome (RTT) is a progressive neurological disorder, affecting females with mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). While MECP2 has been implicated in cancers of the breast, colon and prostrate, cancer in patients with RTT is rare. We present a case of malignant melanoma in a patient with RTT, which additionally, displayed hitherto undescribed nuclear features, resembling herpes simplex virus cytopathic effects. This article is protected by copyright. All rights reserved.
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20. Rojas-Charry L, Nardi L, Methner A, Schmeisser MJ. {{Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders}}. {Journal of molecular medicine (Berlin, Germany)}. 2020.
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.
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21. Samia P, Kanana M, King J, Donald KA, Newton CR, Denckla C. {{Childhood autism spectrum disorder: insights from a tertiary hospital cohort in Kenya}}. {African journal of health sciences}. 2020; 33(2): 12-21.
INTRODUCTION: Autism spectrum disorder (ASD) is characterized by impairments in behavior, social communication, and interaction. There is little data on ASD from sub-Saharan Africa (SSA) describing clinical characteristics in large cohorts of patients. Preliminary studies report a high male sex ratio, excess of nonverbal cases, possible infectious etiologies, and comorbidities e.g. epilepsy. OBJECTIVE: To describe the clinical characteristics of children diagnosed with ASD in an African context. METHODS: A retrospective medical chart review identified 116 children diagnosed with ASD according to DSM-5 criteria at a pediatric neurology clinic in Nairobi, Kenya. RESULTS: The male to female ratio was 4.3:1. The median age at presentation was 3 years with speech delay as the most common reason for presentation. Expressive language delay was observed in 90% of the population. Sixty percent who obtained imaging had normal MRI brain findings. Only 44% and 34% of children had access to speech therapy and occupational therapy respectively. Epilepsy and ADHD were the most prevalent comorbidities. CONCLUSION: An early median age at presentation and preponderance of male gender is observed. Access to speech therapy and other interventions was low. A prospective study would help determine outcomes for similar children following appropriate interventions.
22. Simashkova NV, Ivanov MV, Makushkin EV, Sharlay IA, Klyushnik TP, Kozlovskaya GV. {{[Screening of the risk of mental and developmental disorders in children of early age in the Russian population (2017-2019)]}}. {Zh Nevrol Psikhiatr Im S S Korsakova}. 2020; 120(11): 79-86.
OBJECTIVE: Screening of children 18-48 months of age at risk of mental and developmental disorders in the general population. MATERIAL AND METHODS: The survey was conducted by a continuous epidemiological method in primary health care institutions in the nine largest regions of Russia. For the period 2017-2019, 595 691 parents of children, aged 18-48 months, were surveyed. RESULTS AND CONCLUSION: The prevalence risk rate for mental and developmental disorders was determined as 1.307:10 000. The prevalence rate for mental and behavioural disorders (ICD-10) was 151:10 000. The analysis of the structure of mental and behavioural disorders was carried out. An increase in cases of pervasive developmental disorders (item F84) was detected – autism spectrum disorders (ASD) with an increase in the age of children. The prevalence of ASD under the age of 48 months was found to be 18:10 000, compared with 2015-2016 – 5:10 000 under the age of 24 months.
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23. Srinivasan V, Udayakumar N, Anandan K. {{Influence of Primary Auditory Cortex in the Characterization of Autism Spectrum in Young Adults using Brain Connectivity Parameters and Deep Belief Networks: An fMRI Study}}. {Current medical imaging}. 2020; 16(9): 1059-73.
BACKGROUND: The spectrum of autism encompasses High Functioning Autism (HFA) and Low Functioning Autism (LFA). Brain mapping studies have revealed that autism individuals have overlaps in brain behavioural characteristics. Generally, high functioning individuals are known to exhibit higher intelligence and better language processing abilities. However, specific mechanisms associated with their functional capabilities are still under research. OBJECTIVE: This work addresses the overlapping phenomenon present in autism spectrum through functional connectivity patterns along with brain connectivity parameters and distinguishes the classes using deep belief networks. METHODS: The task-based functional Magnetic Resonance Images (fMRI) of both high and low functioning autistic groups were acquired from ABIDE database, for 58 low functioning against 43 high functioning individuals while they were involved in a defined language processing task. The language processing regions of the brain, along with Default Mode Network (DMN) have been considered for the analysis. The functional connectivity maps have been plotted through graph theory procedures. Brain connectivity parameters such as Granger Causality (GC) and Phase Slope Index (PSI) have been calculated for the individual groups. These parameters have been fed to Deep Belief Networks (DBN) to classify the subjects under consideration as either LFA or HFA. RESULTS: Results showed increased functional connectivity in high functioning subjects. It was found that the additional interaction of the Primary Auditory Cortex lying in the temporal lobe, with other regions of interest complimented their enhanced connectivity. Results were validated using DBN measuring the classification accuracy of 85.85% for high functioning and 81.71% for the low functioning group. CONCLUSION: Since it is known that autism involves enhanced, but imbalanced components of intelligence, the reason behind the supremacy of high functioning group in language processing and region responsible for enhanced connectivity has been recognized. Therefore, this work that suggests the effect of Primary Auditory Cortex in characterizing the dominance of language processing in high functioning young adults seems to be highly significant in discriminating different groups in autism spectrum.
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24. Termine C, Grossi E, Anelli V, Derhemi L, Cavanna AE. {{Possible tics diagnosed as stereotypies in patients with severe autism spectrum disorder: a video-based evaluation}}. {Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology}. 2020.
BACKGROUND: The association of stereotypies and tics is not rare in children with severe autism spectrum disorder (ASD). The differential diagnosis between stereotypies and tics in this patient population can be difficult; however, it could be clinically relevant because of treatment implications. METHODS: A total of 108 video recordings of repetitive behaviors in young patients with stereotypies in the context of ASD were reviewed by a movement disorders expert and a trainee, in order to assess the prevalence of possible co-morbid tics. The Modified Rush Videotape Rating Scale (MRVS) was used to rate tic frequency and severity. RESULTS: Out of 27 patients with stereotypies (24 males; mean age 14 years), 18 (67%) reported possible tics. The most frequently observed tics were eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. The mean MRVS score was 5, indicating mild tic severity. The only significant difference between patients with tics and patients without tics was the total number of stereotypies, which was higher in the subgroup of patients without tics (p = 0.01). CONCLUSIONS: Expert review of video-recordings of repetitive behaviors in young patients with ASD and stereotypies suggests the possibility of a relatively high rate of co-morbid tics. These findings need to be integrated with a comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations.
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25. Vyshedskiy A, Khokhlovich E, Dunn R, Faisman A, Elgart J, Lokshina L, Gankin Y, Ostrovsky S, deTorres L, Edelson SM, Ilyinskii PO. {{Novel Prefrontal Synthesis Intervention Improves Language in Children with Autism}}. {Healthcare (Basel, Switzerland)}. 2020; 8(4).
Prefrontal synthesis (PFS) is defined as the ability to juxtapose mental visuospatial objects at will. Paralysis of PFS may be responsible for the lack of comprehension of spatial prepositions, semantically-reversible sentences, and recursive sentences observed in 30 to 40% of individuals with autism spectrum disorder (ASD). In this report we present data from a three-year-long clinical trial of 6454 ASD children age 2 to 12 years, which were administered a PFS-targeting intervention. Tablet-based verbal and nonverbal exercises emphasizing mental-juxtaposition-of-objects were organized into an application called Mental Imagery Therapy for Autism (MITA). The test group included participants who completed more than one thousand exercises and made no more than one error per exercise. The control group was selected from the rest of participants by a matching procedure. Each test group participant was matched to the control group participant by age, gender, expressive language, receptive language, sociability, cognitive awareness, and health score at first evaluation using propensity score analysis. The test group showed a 2.2-fold improvement in receptive language score vs. control group (p < 0.0001) and a 1.4-fold improvement in expressive language (p = 0.0144). No statistically significant change was detected in other subscales not targeted by the exercises. These findings show that language acquisition improves after training PFS and that a further investigation of the PFS-targeting intervention in a randomized controlled study is warranted. Lien vers le texte intégral (Open Access ou abonnement)
