1. Adhya D, Swarup V, Nagy R, Dutan L, Shum C, Valencia-Alarcón EP, Jozwik KM, Mendez MA, Horder J, Loth E, Nowosiad P, Lee I, Skuse D, Flinter FA, Murphy D, McAlonan G, Geschwind DH, Price J, Carroll J, Srivastava DP, Baron-Cohen S. {{Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals}}. {Biol Psychiatry};2020 (Jun 23)
BACKGROUND: Autism is a heterogeneous collection of disorders with a complex molecular underpinning. Evidence from postmortem brain studies have indicated that early prenatal development may be altered in autism. Induced pluripotent stem cells (iPSCs) generated from individuals with autism with macrocephaly also indicate prenatal development as a critical period for this condition. But little is known about early altered cellular events during prenatal stages in autism. METHODS: iPSCs were generated from 9 unrelated individuals with autism without macrocephaly and with heterogeneous genetic backgrounds, and 6 typically developing control individuals. iPSCs were differentiated toward either cortical or midbrain fates. Gene expression and high throughput cellular phenotyping was used to characterize iPSCs at different stages of differentiation. RESULTS: A subset of autism-iPSC cortical neurons were RNA-sequenced to reveal autism-specific signatures similar to postmortem brain studies, indicating a potential common biological mechanism. Autism-iPSCs differentiated toward a cortical fate displayed impairments in the ability to self-form into neural rosettes. In addition, autism-iPSCs demonstrated significant differences in rate of cell type assignment of cortical precursors and dorsal and ventral forebrain precursors. These cellular phenotypes occurred in the absence of alterations in cell proliferation during cortical differentiation, differing from previous studies. Acquisition of cell fate during midbrain differentiation was not different between control- and autism-iPSCs. CONCLUSIONS: Taken together, our data indicate that autism-iPSCs diverge from control-iPSCs at a cellular level during early stage of neurodevelopment. This suggests that unique developmental differences associated with autism may be established at early prenatal stages.
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2. Amiri M, Lamballais S, Geenjaar E, Blanken LME, El Marroun H, Tiemeier H, White T. {{Environment-Wide Association Study (E(n) WAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population-Based Study}}. {Autism Res};2020 (Aug 23)
A combination of genetic and environmental factors contributes to the origins of autism spectrum disorder (ASD). While a number of studies have described specific environmental factors associating with emerging ASD, studies that compare and contrast multiple environmental factors in the same study are lacking. Thus, the goal of this study was to perform a prospective, data-driven environmental-wide association study of pre- and perinatal factors associated with the later development of autistic symptoms in childhood. The participants included 3891 6-year-old children from a birth cohort with pre- and perinatal data. Autistic symptoms were measured using the Social Responsiveness Scale in all children. Prior to any analyses, the sample was randomly split into a discovery set (2920) and a test set (921). Multiple linear regression analyses were performed for each of 920 variables, correcting for six of the most common covariates in epidemiological studies. We found 111 different pre- and perinatal factors associated with autistic traits during childhood. In secondary analyses where we controlled for parental psychopathology, 23 variables in the domains of family and interpersonal relationships were associated with the development of autistic symptoms during childhood. In conclusion, a data-driven approach was used to identify a number of pre- and perinatal risk factors associating with higher childhood autistic symptoms. These factors include measures of parental psychopathology and family and interpersonal relationships. These measures could potentially be used for the early identification of those at increased risk to develop ASD. LAY SUMMARY: A combination of genetic and environmental factors contributes to the development of autism spectrum disorder (ASD). Each environmental factor may affect the risk of ASD. In a study on 6-year-old children, a number of pre- and perinatal risk factors were identified that are associated with autistic symptoms in childhood. These factors include measures of parental psychopathology and family and interpersonal relationships. These variables could potentially serve as markers to identify those at increased risk to develop ASD or autistic symptoms.
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3. Bremer E, Martin Ginis KA, Bassett-Gunter RL, Arbour-Nicitopoulos KP. {{Factors Associated with Participation in Physical Activity Among Canadian School-Aged Children with Autism Spectrum Disorder: An Application of the International Classification of Functioning, Disability and Health}}. {Int J Environ Res Public Health};2020 (Aug 14);17(16)
We have a limited understanding of the socioenvironmental factors associated with participation in physical activity among school-aged children with autism spectrum disorder (ASD), particularly regarding how the school environment may influence their participation. Using the International Classification of Functioning, Disability and Health (ICF) as a framework, this study examined the effect of body functions and structure, activity, and personal factors on in-school physical activity; and whether in-school physical activity, considered a socioenvironmental factor, is associated with out-of-school physical activity (i.e., participation) among elementary school-aged children (6-13 years of age) with ASD. Parents of 202 children with ASD (78.2% boys; M(age) = 9.4 years) completed an online survey, as part of a larger study, to assess their child’s functioning and physical activity in- and out-of-school. Results indicated that the majority of children (85.1%) did not meet physical activity guidelines. In-school physical activities significantly predicted out-of-school physical activities including leisure-time moderate-to-vigorous physical activity (R(2) = 0.27, F(10,154) = 5.67, p < 0.001) and meeting the physical activity guidelines (R(2) = 0.23, Χ(2) (10) = 31.9, p < 0.001). These findings underscore the importance of supporting children with ASD to be physically active in school, which may impact physical activity levels out-of-school. Lien vers le texte intégral (Open Access ou abonnement)
4. Candini M, di Pellegrino G, Frassinetti F. {{The plasticity of the interpersonal space in autism spectrum disorder}}. {Neuropsychologia};2020 (Aug 19):107589.
In recent years, there has been a dramatic increase in research examining interpersonal space, i.e., the sector of space immediately around the body in which we interact with other people. These studies have consistently revealed impairments of interpersonal space regulation in psychopathological disorders characterized by social disability, such as autism, schizophrenia and social anxiety. The primary goal of this review is to discuss several key points that have emerged in research on interpersonal space regulation in autism spectrum disorders. Particularly, we review recent behavioral evidence revealing that individuals with autism prefer abnormally larger or shorter interpersonal distance than healthy controls, indicating a deficit in regulating the size of interpersonal space (permeability). Then, we focus on how individuals with autism fail to modify their interpersonal space following a brief cooperative interaction with an unfamiliar adult, suggesting a deficit in adapting interpersonal space to the social context (plasticity). Moreover, we discuss evidence indicating that space regulation deficits primarily affect interpersonal (i.e., social), but not peripersonal (i.e., action), space in autism. Finally, we take into consideration the variables influencing interpersonal space plasticity such as person’s perspective and severity of social impairment as well as its neural underpinnings. These findings may provide a critical contribution to understanding of the functional mechanisms underlying interpersonal space regulation and its rehabilitation in autism spectrum disorders.
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5. Chonchaiya W. {{Social/digital media exposure early in life associated with autistic symptoms}}. {J Pediatr};2020 (Sep);224:179-183.
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6. Fusar-Poli L, Cavone V, Tinacci S, Concas I, Petralia A, Signorelli MS, Díaz-Caneja CM, Aguglia E. {{Cannabinoids for People with ASD: A Systematic Review of Published and Ongoing Studies}}. {Brain Sci};2020 (Aug 20);10(9)
The etiopathogenesis of autism spectrum disorder (ASD) remains largely unclear. Among other biological hypotheses, researchers have evidenced an imbalance in the endocannabinoid (eCB) system, which regulates some functions typically impaired in ASD, such as emotional responses and social interaction. Additionally, cannabidiol (CBD), the non-intoxicating component of Cannabis sativa, was recently approved for treatment-resistant epilepsy. Epilepsy represents a common medical condition in people with ASD. Additionally, the two conditions share some neuropathological mechanisms, particularly GABAergic dysfunctions. Hence, it was hypothesized that cannabinoids could be useful in improving ASD symptoms. Our systematic review was conducted according to the PRISMA guidelines and aimed to summarize the literature regarding the use of cannabinoids in ASD. After searching in Web of Knowledge(TM), PsycINFO, and Embase, we included ten studies (eight papers and two abstracts). Four ongoing trials were retrieved in ClinicalTrials.gov. The findings were promising, as cannabinoids appeared to improve some ASD-associated symptoms, such as problem behaviors, sleep problems, and hyperactivity, with limited cardiac and metabolic side effects. Conversely, the knowledge of their effects on ASD core symptoms is scarce. Interestingly, cannabinoids generally allowed to reduce the number of prescribed medications and decreased the frequency of seizures in patients with comorbid epilepsy. Mechanisms of action could be linked to the excitatory/inhibitory imbalance found in people with ASD. However, further trials with better characterization and homogenization of samples, and well-defined outcomes should be implemented.
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7. Ismail NAS, Ramli NS, Hamzaid NH, Hassan NI. {{Exploring Eating and Nutritional Challenges for Children with Autism Spectrum Disorder: Parents’ and Special Educators’ Perceptions}}. {Nutrients};2020 (Aug 20);12(9)
Autism spectrum disorder (ASD) is a complex neurodevelopmental disability that is frequently associated with food refusal, limited food repertoire and high-frequency single food intake mainly among children with ASD. Provision of nutrition can be very challenging due to the fact of these behavioural problems, either for the parents or special educators. Healthy nutrition is associated with providing and consuming nutritious food with results being in a good state of health. Semi-structured focus group discussions (FGDs) were conducted among 20 participants at a National Autism Centre to explore their understanding towards healthy nutrition. They were parents and special educators who were actively involved with children with ASD. A series of discussions were transcribed verbatim, and four researchers examined each transcript. Inductive analysis linking codes into main thematic categories was conducted using the constant comparison approach across the full data set. The outcome suggested that participants had limited knowledge relating to the proper dietary and nutritional needs of the children. The key messages from the discussion provide a foundation on the development of a nutrition education module which involves primary caretakers of children with ASD.
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8. Kumazaki H, Muramatsu T, Yoshikawa Y, Matsumoto Y, Ishiguro H, Kikuchi M, Sumiyoshi T, Mimura M. {{Optimal robot for intervention for individuals with autism spectrum disorders}}. {Psychiatry Clin Neurosci};2020 (Aug 22)
With recent rapid advances in technology, human-like robots have begun functioning in a variety of ways. As increasing anecdotal evidence suggests, robots may offer many unique opportunities for helping individuals with autism spectrum disorders (ASD). Individuals with ASD often achieve a higher degree of task engagement through the interaction with robots than through interactions with human trainees. The type and form of robots to be used for individuals with ASD have been meticulously considered. Simple robots and animal robots are acceptable because of their simplicity and the ease of interesting and engaging interactions. Android robots have the benefit of the potential of generalization into daily life to some extent. Considering the affinity between robots and users is important to draw out the potential capabilities of robotic intervention to the fullest extent. In the robotic condition, factors such as the appearance, biological motion, clothes, hairstyle, and disposition are important. Many factors of a user such as age, sex, and intelligence quotient may also affect the affinity of individuals with ASD toward a robot. The potential end-users of this technology are unaware or unconvinced of the potential roles of robots in autism spectrum disorder interventions. If trainers have extensive experience in using robots, they can identify many potential roles of robots based on their experience. To date, only a few studies have been conducted in the field of robotics for providing assistance to individuals with ASD, and future studies are needed to realize an optimal robot for this purpose. This article is protected by copyright. All rights reserved.
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9. Kuo HC. {{Kawasaki-like disease among Italian children in the COVID-19 era}}. {J Pediatr};2020 (Sep);224:179-183.
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10. Lidstone DE, Miah FZ, Poston B, Beasley JF, Mostofsky SH, Dufek JS. {{Children with Autism Spectrum Disorder Show Impairments During Dynamic Versus Static Grip-force Tracking}}. {Autism Res};2020 (Aug 23)
Impairments in visuomotor integration (VMI) may contribute to anomalous development of motor, as well as social-communicative, skills in children with autism spectrum disorder (ASD). However, it is relatively unknown whether VMI impairments are specific to children with ASD versus children with other neurodevelopmental disorders. As such, this study addressed the hypothesis that children with ASD, but not those in other clinical control groups, would show greater deficits in high-VMI dynamic grip-force tracking versus low-VMI static presentation. Seventy-nine children, aged 7-17 years, participated: 22 children with ASD, 17 children with fetal alcohol spectrum disorder (FASD), 18 children with Attention-Deficit Hyperactivity Disorder (ADHD), and 22 typically developing (TD) children. Two grip-force tracking conditions were examined: (1) a low-VMI condition (static visual target) and (2) a high-VMI condition (dynamic visual target). Low-frequency force oscillations <0.5 Hz during the visuomotor task were also examined. Two-way ANCOVAs were used to examine group x VMI and group x frequency effects (α = 0.05). Children with ASD showed a difficulty, above that seen in the ADHD/FASD groups, tracking dynamic, but not static, visual stimuli as compared to TD children. Low-frequency force oscillations <0.25 Hz were also significantly greater in the ASD versus the TD group. This study is the first to report VMI deficits during dynamic versus static grip-force tracking and increased proportion of force oscillations <0.25 Hz during visuomotor tracking in the ASD versus TD group. Dynamic VMI impairments may be a core psychophysiologic feature that could contribute to impaired development of motor and social-communicative skills in ASD. LAY SUMMARY: Children with autism spectrum disorder (ASD) show difficulties using dynamic visual stimuli to guide their own movements compared to their typically developing (TD) peers. It is unknown whether children without a diagnosis of ASD, but with other neurological disorders, show similar difficulties processing dynamic visual stimuli. In this study, we showed that children with ASD show a difficulty using dynamic, but not static, visual stimuli to guide movement that may explain atypical development of motor and social skills. Lien vers le texte intégral (Open Access ou abonnement)
11. Maniscalco L, Frédérique BB, Roccella M, Matranga D, Tripi G. {{A Preliminary Study on Cranio-Facial Characteristics Associated with Minor Neurological Dysfunctions (MNDs) in Children with Autism Spectrum Disorders (ASD)}}. {Brain Sci};2020 (Aug 18);10(8)
Background. Craniofacial anomalies and minor neurological dysfunction (MNDs) have been identified, in literature, as risk factors for neurodevelopmental disorders. They represent physical indicators of embryonic development suggesting a possible contributory role of complications during early, even pre-conceptional, phases of ontogeny in autism spectrum disorders (ASD). Limited research has been conducted about the co-occurrence of the two biomarkers in children with ASD. This study investigates the associative patterns of cranio-facial anomalies and MNDs in ASD children, and whether these neurodevelopmental markers correlate with intensity of ASD symptoms and overall functioning. Methods. Caucasian children with ASD (n = 33) were examined. Measures were based on five anthropometric cranio-facial indexes and a standardized and detailed neurological examination according to Touwen. Relationships between anthropometric z-scores, MNDs and participant characteristics (i.e., age, cognitive abilities, severity of autistic symptoms measured using the Childhood Autism Rating Scale (CARS) checklist) were assessed. Results. With respect to specific MNDs, significant positive correlations were found between Cephalic Index and Sensory deficits (p-value < 0.001), which did not correlate with CARS score. Importantly, CARS score was positively linked with Intercanthal Index (p-value < 0.001), and negatively associated with posture and muscle tone (p-value = 0.027) and Facial Index (p-value = 0.004). Conclusion. Our data show a link between a specific facial phenotype and anomalies in motor responses, suggesting early brain dysmaturation involving subcortical structures in cerebro-craniofacial development of autistic children. This research supports the concept of a "social brain functional morphology" in autism spectrum disorders. Lien vers le texte intégral (Open Access ou abonnement)
12. Moyses-Oliveira M, Yadav R, Erdin S, Talkowski ME. {{New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders}}. {Curr Opin Genet Dev};2020 (Aug 23);65:195-206.
Over the last two years, remarkable gene discovery efforts have implicated disruption of pathways involving gene regulatory functions and neuronal processes in autism spectrum disorder (ASD), and more broadly defined neurodevelopmental disorders (NDDs). Functional studies in the developing brain and across cell types demonstrate that the spatiotemporal expression patterns of many of these genes coalesce on subnetworks with distinct developmental trajectories. Here, we review the convergent biological processes derived from gene discovery and functional genomics in ASD and NDD from 2018-2020. We further probe the mechanistic insights that suggest these frequently perturbed pathways are interconnected and, ultimately, converge on specific functional deficits in human neurodevelopment.
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13. Omiya T, Deguchi N, Togari T, Yamazaki Y. {{Factors Influencing Sense of Coherence: Family Relationships, High School Life and Autism Spectrum Tendency}}. {Children (Basel)};2020 (Aug 21);7(9)
Adolescence is marked by significant life stress. Recently, school refusal and dropouts as well as suicide among Japanese adolescents have increased. Sense of coherence (SOC) is recognized as a competency that helps people deal with stress. The purpose of this study was to examine the factors influencing SOC in male and female high school students. We conducted a survey with 203 pairs of high school students and their mothers, in Tokyo, to explore their SOC, family relationships, school belonging, and autistic traits. Analysis of the data revealed a weak relationship between female students’ SOC and that of their mothers, and no relationship between male students’ SOC and their mothers’ SOC. Feelings of acceptance and recognition from teachers improved students’ SOC, irrespective of gender. Low SOC in mothers had a negative impact on female students’ SOC, and children’s lack of imagination (an autism spectrum tendency) had a negative impact on male students’ SOC. This study revealed the importance of support at home and school according to the needs of both genders.
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14. Ozsivadjian A, Hollocks MJ, Magiati I, Happé F, Baird G, Absoud M. {{Is cognitive inflexibility a missing link? The role of cognitive inflexibility, alexithymia and intolerance of uncertainty in externalising and internalising behaviours in young people with autism spectrum disorder}}. {J Child Psychol Psychiatry};2020 (Aug 21)
BACKGROUND: Internalising (anxiety and low mood) and externalising (aggressive or outburst behaviours, and irritability) difficulties are very common in autism spectrum disorder (ASD) across the life span, relatively stable over time and often associated with poorer quality of life. Understanding the cognitive mechanisms underlying internalising and externalising difficulties in ASD is essential for developing targeted supports and interventions. In the present study, we investigated established and less-researched cognitive factors hypothesised to contribute to internalising and/or externalising difficulties in ASD, namely cognitive inflexibility (CI), intolerance of uncertainty (IU) and alexithymia. Based on previous models and clinical experience, we hypothesised that IU would lead to internalising symptoms, with alexithymia contributing to this pathway, and that CI would have a direct effect on externalising behaviours and may indirectly contribute to internalising symptoms via increasing IU. METHODS: Our sample consisted of 95 5- to 18-year-olds presenting to a specialist neurodevelopmental clinic and receiving a diagnosis of ASD. Parents/caregivers completed questionnaires assessing ASD symptomatology, internalising and externalising difficulties, CI, IU and alexithymia. Structural equation modelling was used to examine the hypothesised pathways and relationships between the main variables of interest. RESULTS: Cognitive Inflexibility played a significant direct role in the pathway from ASD symptoms to externalising symptoms in ASD, and indirect role via IU in the pathway to internalising problems. Relationships between alexithymia and both internalising and externalising symptoms were weaker, with alexithymia predicting internalising difficulties via IU only. CONCLUSIONS: The finding of a direct pathway from CI to externalising behaviours is novel, as is the indirect role of CI in internalising symptomatology. Of the three cognitive mechanisms examined, only CI significantly predicted externalising symptoms. Possible implications for interventions and supports targeting these cognitive processes in ASD are discussed.
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15. Precenzano F, Parisi L, Lanzara V, Vetri L, Operto FF, Pastorino GMG, Ruberto M, Messina G, Risoleo MC, Santoro C, Bitetti I, Marotta R. {{Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications}}. {Medicina (Kaunas)};2020 (Aug 19);56(9)
A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.
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16. Robinson AC, Bajaj N, Hadjivassiliou M, Minshull J, Mahmood A, Roncaroli F. {{Neuropathology of a case of fragile X-associated tremor ataxia syndrome without tremor}}. {Neuropathology};2020 (Aug 23)
Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG trinucleotide expansion from 55 to 200 repeats in the non-coding region of the fragile X mental retardation 1 (FMR1) gene (FMR1). Clinical features include cognitive decline, progressive tremor, and gait ataxia. Neuropathologically, FXTAS shows white matter changes, hippocampal and cerebellar involvement, and p62-positive eosinophilic intranuclear inclusions in astrocytes and neurons. Here, we document the neuropathological findings from a subject who developed cognitive impairment but not tremor and was proved to have genetically confirmed FMR1 premutation. Microscopically, typical p62-postive intranuclear inclusions were present in all the regions examined. Neocortical regions demonstrated gliosis of layer I and mild degree of neuronal loss and atrophy across the other layers. The molecular, Purkinje’s cell, and granule cell layers of the cerebellar folia demonstrated mild gliosis, and cerebellar white matter was mildly affected. Aside from p62-positive inclusions, the hippocampus was spared. Arteries in the deep white matter often showed changes consistent with moderate small vessel disease (SVD). Reactive gliosis and severe SVD were features of basal ganglia. Florid reactive astrocytosis was found in the white matter of all regions. Axonal loss and features of axonal damage were found in the white matter of the centrum semiovale. Microglial activation was widespread and evenly seen in both the white matter and grey matter, although the grey matter appeared more severely affected. Pathology associated with Alzheimer’s disease was limited. Similarly, no abnormal accumulations of α-synuclein were present. We postulate that age at death and disease duration may play a role in the extent of the pathological features associated with FXTAS. The present results suggest that immunohistochemical staining for p62 can help with the diagnosis of cases with atypical phenotype. In addition, it is likely that the cognitive impairment observed was a result of white matter changes.
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17. Roden RC, Schmidt EK, Holland-Hall C. {{Sexual health education for adolescents and young adults with intellectual and developmental disabilities: recommendations for accessible sexual and reproductive health information}}. {Lancet Child Adolesc Health};2020 (Sep);4(9):699-708.
Sexual and reproductive health is an important aspect of human development, but discussions with adolescents and young adults on this topic are often challenging for health-care providers. As a result, many adolescents and young adults do not receive appropriate, comprehensive sexual education, despite recognition from WHO and the UN that access to this education is a human right. Adolescents and young adults with mild to moderate intellectual or developmental disability, or both, are just as likely to be sexually active as are their peers without disability; however, these individuals are less likely to receive comprehensive sexual education. To ensure adequate comprehensive sexual education for adolescents and young adults with intellectual and developmental disabilities, sexual health educators should facilitate conversations about sexual and reproductive health that are non-judgmental and sexually inclusive. Such initiatives should use an educational framework grounded in universal design for learning, including use of multiple media types with clear, concise language and images.
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18. Samadi H, Samadi SA. {{Understanding Different Aspects of Caregiving for Individuals with Autism Spectrum Disorders (ASDs) a Narrative Review of the Literature}}. {Brain Sci};2020 (Aug 14);10(8)
BACKGROUND: There has been a considerable endeavor to understand associated challenges of caregiving for a child with Autism Spectrum Disorders (ASDs) and to develop the necessary skills and approaches to assist parents of children with ASD. Different studies have been stressed the importance and need for parental involvement in the intervention process to increase positive impacts. METHODS: The process of caregiving and the associated challenges should be understood from different aspects to be able to facilitate parent involvement in intervention implementation. In a narrative literature review, ten selected reviews were considered and each review considered a special aspect of caregiving for an individual with ASD. RESULTS: Five main different factors in the available literature and reviews were considered as different themes that needed to be reconsidered in the studies on the impacts of caregiving for an individual with ASD. CONCLUSIONS: It is concluded that to facilitate parental involvement in the intervention process, and to support caregivers of this group of individuals this review highlights the need for improved research in some proposed areas in this field and to bridge the gap between research and practice in this field.
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19. Schwartz S, Wang L, Shinn-Cunningham BG, Tager-Flusberg H. {{Neural Evidence for Speech Processing Deficits During a Cocktail Party Scenario in Minimally and Low Verbal Adolescents and Young Adults with Autism}}. {Autism Res};2020 (Aug 22)
As demonstrated by the Cocktail Party Effect, a person’s attention is grabbed when they hear their name in a multispeaker setting. However, individuals with autism (ASD) are commonly challenged in multispeaker settings and often do not respond to salient speech, including one’s own name (OON). It is unknown whether neural responses during this Cocktail Party scenario differ in those with ASD and whether such differences are associated with expressive language or auditory filtering abilities. We measured neural responses to hearing OON in quiet and multispeaker settings using electroencephalography in 20 minimally or low verbal ASD (ASD-MLV), 27 verbally fluent ASD (ASD-V), and 27 neurotypical (TD) participants, ages 13-22. First, we determined whether TD’s neural responses to OON relative to other names could be quantified with early frontal mismatch responses (MMRs) and late, slow shift parietal and frontal responses (LPPs/FNs). Second, we compared the strength of MMRs and LPPs/FNs across the three groups. Third, we tested whether participants with poorer auditory filtering abilities exhibited particularly weak neural responses to OON heard in a multispeaker setting. Our primary finding was that TDs and ASD-Vs, but not ASD-MLVs, had significant MMRs to OON in a multispeaker setting, and strength of LPPs positively correlated with auditory filtering abilities in those with ASD. These findings reveal electrophysiological correlates of auditory filtering disruption within a clinical population that has severe language and communication impairments and offer a novel neuroimaging approach to studying the Cocktail Party effect in neurotypical and clinical populations. LAY SUMMARY: We found that minimally and low verbal adolescents and young adults with autism exhibit decreased neural responses to one’s own name when heard in a multispeaker setting. In addition, decreased strength of neural responses in those with autism correlated with decreased auditory filtering abilities. We propose that these neural deficits may reflect the ineffective processing of salient speech in noisy settings and contribute to language and communication deficits observed in autism.
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20. Wachtel LE. {{Far From an Elective Procedure: Electroconvulsive Therapy and Autism in the Era of COVID-19}}. {J ect};2020 (Aug 18)
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21. Washington P, Leblanc E, Dunlap K, Penev Y, Kline A, Paskov K, Sun MW, Chrisman B, Stockham N, Varma M, Voss C, Haber N, Wall DP. {{Precision Telemedicine through Crowdsourced Machine Learning: Testing Variability of Crowd Workers for Video-Based Autism Feature Recognition}}. {J Pers Med};2020 (Aug 13);10(3)
Mobilized telemedicine is becoming a key, and even necessary, facet of both precision health and precision medicine. In this study, we evaluate the capability and potential of a crowd of virtual workers-defined as vetted members of popular crowdsourcing platforms-to aid in the task of diagnosing autism. We evaluate workers when crowdsourcing the task of providing categorical ordinal behavioral ratings to unstructured public YouTube videos of children with autism and neurotypical controls. To evaluate emerging patterns that are consistent across independent crowds, we target workers from distinct geographic loci on two crowdsourcing platforms: an international group of workers on Amazon Mechanical Turk (MTurk) (N = 15) and Microworkers from Bangladesh (N = 56), Kenya (N = 23), and the Philippines (N = 25). We feed worker responses as input to a validated diagnostic machine learning classifier trained on clinician-filled electronic health records. We find that regardless of crowd platform or targeted country, workers vary in the average confidence of the correct diagnosis predicted by the classifier. The best worker responses produce a mean probability of the correct class above 80% and over one standard deviation above 50%, accuracy and variability on par with experts according to prior studies. There is a weak correlation between mean time spent on task and mean performance (r = 0.358, p = 0.005). These results demonstrate that while the crowd can produce accurate diagnoses, there are intrinsic differences in crowdworker ability to rate behavioral features. We propose a novel strategy for recruitment of crowdsourced workers to ensure high quality diagnostic evaluations of autism, and potentially many other pediatric behavioral health conditions. Our approach represents a viable step in the direction of crowd-based approaches for more scalable and affordable precision medicine.
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22. Wijker C, Steen SV, Spek A, Leontjevas R, Enders-Slegers MJ. {{Social Development of Adults with Autism Spectrum Disorder During Dog-Assisted Therapy: A Detailed Observational Analysis}}. {Int J Environ Res Public Health};2020 (Aug 14);17(16)
Social communication and self-esteem are often affected in adults with autism spectrum disorder. Implementation and evaluation of interventions targeting social skills are challenged due to specific characteristics of autism. Intensive, valid evaluation of social skills programs is needed. In this explorative multiple case study, we examined effects and working mechanisms of dog-assisted therapy on social communication and self-esteem, by analyzing detailed observations with Monte Carlo permutation tests (testing against 10,000 random samples) and using self- and other-reports in N=6 high-functioning adults with ASD. Results showed significant positive effects on secure body posture. There was an indication of improved self-esteem and more spontaneous touching of the dog, while no convincing increase was found for verbal initiatives. Cross-correlation analyses revealed that touching the therapy dog may be an important determinant to elicit social development in Animal Assisted Therapy (AAT). Considering preliminary results, we recommend exploring underlying mechanisms more thoroughly with real-time observations, accounting for possible gender-effects.
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23. Wu X, Li W, Zheng Y. {{Recent Progress on Relevant microRNAs in Autism Spectrum Disorders}}. {Int J Mol Sci};2020 (Aug 17);21(16)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose pathogenesis is unclear and is affected by both genetic and environmental factors. The microRNAs (miRNAs) are a kind of single-stranded non-coding RNA with 20-22 nucleotides, which normally inhibit their target mRNAs at a post-transcriptional level. miRNAs are involved in almost all biological processes and are closely related to ASD and many other diseases. In this review, we summarize relevant miRNAs in ASD, and analyze dysregulated miRNAs in brain tissues and body fluids of ASD patients, which may contribute to the pathogenesis and diagnosis of ASD.
