1. Adebayo OL, Dewenter I, Rinne L, Golubiani G, Solomonia R, Müller M. {{Intensified mitochondrial hydrogen peroxide release occurs in all brain regions, affects male as well as female Rett mice, and constitutes a life-long burden}}. {Archives of biochemistry and biophysics}. 2020: 108666.
The neurodevelopmental disorder Rett syndrome (RTT) affects mostly females. Upon an apparently normal initial development, cognitive impairment, irregular breathing, motor dysfunction, and epilepsy occur. The complex pathogenesis includes, among others, mitochondrial impairment, redox imbalance, and oxidative damage. As these arise already in neonatal Rett mice, they were proposed contributors of disease progression. Several mitochondrial studies in RTT used either full brains or selected brain regions only. Here, we mapped brain-wide mitochondria-related ROS generation. Using sophisticated multi-sample spectrofluorimetry, H(2)O(2) release by isolated mitochondria was quantified in a coupled reaction of Amplex UltraRed and horseradish peroxidase. All brain regions and the entire lifespan were characterized in male and female mice. In WT mice, mitochondrial H(2)O(2) release was usually highest in cortex and lowest in hippocampus. Maximum rates occurred at postnatal day (PD) 10 and they slightly declined with further maturation. Already at PD 10, male and female Rett mice showed exaggerated mitochondrial H(2)O(2) releases in first brain regions and persistent brain-wide increases from PD 50 on. Interestingly, female Rett mice were more intensely affected than male Rett mice, with their brainstem, midbrain and hippocampus being most severely struck. In conclusion, we used a reliable multi-sample cuvette-based assay on mitochondrial ROS release to perform brain-wide analyzes along the entire lifespan. Mitochondrial H(2)O(2) release in Rett mice is intensified in all brain regions, includes hemizygous males and heterozygous females, and affects all maturational stages. Therefore, intensified mitochondrial H(2)O(2) release seriously needs to be considered throughout RTT pathogenesis and may constitute a potential therapeutic target.
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2. Au AH, Shum KK, Cheng Y, Tse HM, Wong RM, Li J, Au TK. {{Autism spectrum disorder screening in preschools}}. {Autism}. 2020: 1362361320967529.
With professional training and regular opportunities to observe children interacting with their peers, preschool teachers are in a good position to notice children’s autism spectrum disorder symptomatology. Yet even when a preschool teacher suspects that a child may have autism spectrum disorder, fear of false alarm may hold the teacher back from alerting the parents, let alone suggesting them to consider clinical assessment for the child. A valid and convenient screening tool can help preschool teachers make more informed and hence more confident judgment. We set out to develop a screening tool that capitalizes on peer interaction as a naturalistic « stress test » to identify children more likely than their peers to have autism spectrum disorder. A total of 304 3- to 4-year-olds were observed at school with an 84-item preliminary checklist; data-driven item reduction yielded a 13-item Classroom Observation Scale. The Classroom Observation Scale scores correlated significantly with Autism Diagnostic Observation Schedule-2 scores. To validate the scale, another 322 2- to 4-year-olds were screened using the Classroom Observation Scale. The screen-positive children and randomly selected typically developing peers were assessed for autism spectrum disorder 1.5 years later. The Classroom Observation Scale as used by teachers and researchers near preschool onset predicted autism spectrum disorder diagnoses 1.5 years later. This user-friendly 13-item Classroom Observation Scale enables teachers and healthcare workers with little or no clinical training to identify, with reliable and valid results, preschoolers more likely than their peers to have autism spectrum disorder.
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3. Bai M, Ye D, Guo X, Xi J, Liu N, Wu Y, Jia W, Wang G, Chen W, Li G, Jiapaer Z, Kang J. {{Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism}}. {EMBO reports}. 2020; 21(11): e50283.
A microdeletion within human chromosome 5q14.3 has been associated with the occurrence of neurodevelopmental disorders, such as autism and intellectual disability, and MEF2C haploinsufficiency was identified as main cause. Here, we report that a brain-enriched long non-coding RNA, NDIME, is located near the MEF2C locus and is required for normal neural differentiation of mouse embryonic stem cells (mESCs). NDIME interacts with EZH2, the major component of polycomb repressive complex 2 (PRC2), and blocks EZH2-mediated trimethylation of histone H3 lysine 27 (H3K27me3) at the Mef2c promoter, promoting MEF2C transcription. Moreover, the expression levels of both NDIME and MEF2C were strongly downregulated in the hippocampus of a mouse model of autism, and the adeno-associated virus (AAV)-mediated expression of NDIME in the hippocampus of these mice significantly increased MEF2C expression and ameliorated autism-like behaviors. The results of this study reveal an epigenetic mechanism by which NDIME regulates MEF2C transcription and neural differentiation and suggest potential effects and therapeutic approaches of the NDIME/MEF2C axis in autism.
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4. Bottema-Beutel K, Kim SY, Crowley S, Yoder PJ. {{Developmental associations between joint engagement and autistic children’s vocabulary: A cross-lagged panel analysis}}. {Autism}. 2020: 1362361320968641.
In this study, we used a cross-lagged panel analysis to examine correlations over time between two types of engagement between children and their parents and children’s later expressive and receptive vocabularies. This kind of design can help researchers understand which early developmental achievements « drive » later developmental achievements. It is important for intervention researchers to know which developmental achievements happen first, so that they can set intervention goals appropriately. The two joint engagement variables we examined were (a) higher order supported joint engagement, which occurs when caregivers influence their child’s play with toys and the child reciprocally responds to the caregiver, but does not manage the interaction by shifting gaze between the toys and the caregiver, and (b) higher order supported joint engagement that co-occurs with caregiver’s follow-in talk (higher order supported joint engagement + follow-in). Follow-in talk occurs when the caregiver talks about objects and events that the child is focused on. Ninety-one autistic children (n = 91) with language delay (mean chronological age = 39 months) participated, along with their primary caregivers. Each of the four variables was measured twice, 8 months apart. Our statistical procedures showed that early higher order supported joint engagement and early higher order supported joint engagement + follow-in were significantly associated with later expressive and receptive vocabulary. In contrast, associations between early vocabulary variables and later joint engagement variables were not significant. Our results suggest that higher order supported joint engagement and higher order supported joint engagement + follow-in may be useful initial intervention targets, for developmental interventions aimed at promoting language development in autistic children who are initially language delayed.
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5. Bradshaw J, Gillespie S, McCracken C, King BH, McCracken JT, Johnson CR, Lecavalier L, Smith T, Swiezy N, Bearss K, Sikich L, Donnelly C, Hollander E, McDougle CJ, Scahill L. {{Predictors of Caregiver Strain for Parents of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Parents of children with autism spectrum disorder (ASD) face higher levels of caregiver strain compared to parents of children with other disabilities. This study examined child clinical features that predict high levels of caregiver strain for 374 parents of children with ASD. Caregiver strain was measured using the Caregiver Strain Questionnaire (CGSQ) objective, subjective internalized, and subjective externalized subscales. Confirmatory factor analysis indicated an acceptable fit for the original CGSQ three-factor solution. The strongest child predictors across CGSQ subscales were: disruptive behavior for objective strain, autism severity and disruptive behavior for subjective internalized strain, and oppositional behavior and hyperactivity for subjective externalized strain. Individualized interventions that attend to specific elements of parental strain may reduce strain and improve family wellbeing.
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6. Buxbaum JD, Cutler DJ, Daly MJ, Devlin B, Roeder K, Sanders SJ. {{Not All Autism Genes Are Created Equal: A Response to Myers et al}}. {Am J Hum Genet}. 2020; 107(5): 1000-3.
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7. Cai K, Yu Q, Herold F, Liu Z, Wang J, Zhu L, Xiong X, Chen A, Müller P, Kramer AF, Müller NG, Zou L. {{Mini-Basketball Training Program Improves Social Communication and White Matter Integrity in Children with Autism}}. {Brain Sci}. 2020; 10(11).
Impairments in social communication (SC) represent one of the core symptoms of autism spectrum disorder (ASD). While previous studies have demonstrated that exercise intervention improves SC in children with ASD, there is currently no neuroscientific evidence supporting its benefits. Therefore, we evaluated the outcomes of a long-term exercise intervention on SC and white matter integrity (WMI) in children with ASD, and further explored the neural mechanism of exercise intervention on SC in these children. Twenty-nine children aged 3-6 years with ASD were assigned to either exercise group (n = 15) or control group (n = 14). The exercise group received a scheduled mini-basketball training program (5 sessions per week, forty minutes per session) for 12 consecutive weeks, while the control group was instructed to maintain their daily activities. Groups were assessed before and after intervention on SC and WMI. SC scores were lower in the exercise group post-intervention. Compared with the control group, WMI of the exercise group showed higher fractional anisotropy in the body of corpus callosum, fornix, right cerebral peduncle, left posterior limb of internal capsule, right retrolenticular part of internal capsule, left anterior corona radiate and left superior fronto-occipital fasciculus; lower mean diffusivity in the left anterior corona radiate and the bilateral corticospinal tract. Furthermore, increased WMI was associated with lower scores on a measure of social cognition in the overall sample. This study is the first to provide evidence that exercise intervention improves SC and white matter integrity in children with autism.
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8. Chien CW, Lai YYC, Lin CY, Graham F. {{Occupational Performance Coaching with Parents to Promote Community Participation and Quality of Life of Young Children with Developmental Disabilities: A Feasibility Evaluation in Hong Kong}}. {Int J Environ Res Public Health}. 2020; 17(21).
Participation in community activities contributes to child development and health-related quality of life (HRQOL), but restricted participation has been reported in children with disabilities. Occupational performance coaching (OPC) is an intervention that targets participatory goals in child performance through coaching parents, with evidence of effectiveness for pediatric populations. Little is known about the feasibility of OPC in Hong Kong, or its effect on children’s community participation and HRQOL. A mixed-methods case study design was applied to explore Hong Kong parents’ experience of OPC in relation to goal achievement, community participation, and HRQOL change in children. Four parents of young children with developmental disabilities (aged five to six years) received OPC for three to eight sessions within one to three months. Quantitative pre- and post-intervention data were analyzed descriptively. Semi-structured interviews with parents were conducted at post-intervention, and analyzed using content analysis. Results showed a trend of improvement in goal performance, child involvement in community activities, and specific aspects of HRQOL among most participants. Parents perceived undertaking OPC positively, described gaining insights and skills, and felt supported. The findings suggest that OPC warrants further investigation for use in Hong Kong, to promote children’s community participation and quality of life.
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9. Cicaloni V, Pecorelli A, Cordone V, Tinti L, Rossi M, Hayek J, Salvini L, Tinti C, Valacchi G. {{A proteomics approach to further highlight the altered inflammatory condition in Rett syndrome}}. {Archives of biochemistry and biophysics}. 2020; 696: 108660.
Rett syndrome (RTT) is a progressive neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. RTT patients show multisystem disturbances associated with perturbed redox homeostasis and inflammation, which appear as possible key factors in RTT pathogenesis. In this study, using primary dermal fibroblasts from control and RTT subjects, we performed a proteomic analysis that, together with data mining approaches, allowed us to carry out a comprehensive characterization of RTT cellular proteome. Functional and pathway enrichment analyses showed that differentially expressed proteins in RTT were mainly enriched in biological processes related to immune/inflammatory responses. Overall, by using proteomic data mining as supportive approach, our results provide a detailed insight into the molecular pathways involved in RTT immune dysfunction that, causing tissue and organ damage, can increase the vulnerability of affected patients to unknown endogenous factors or infections.
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10. Crutel V, Lambert E, Penelaud PF, Albarrán Severo C, Fuentes J, Rosier A, Hervás A, Marret S, Oliveira G, Parellada M, Kyaga S, Gouttefangeas S, Bertrand M, Ravel D, Falissard B. {{Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials)}}. {J Autism Dev Disord}. 2020.
There are currently no approved pharmacological treatments to improve social reciprocity and limit repetitive and rigid behaviors in autism spectrum disorder (ASD). We describe the design of two Phase III studies evaluating the efficacy/safety of bumetanide oral liquid formulation in ASD. These are international, multicenter, randomized, double-blind, placebo-controlled studies in children and adolescents with ASD aged 7 to 17 years (n = 200; study 1), or younger children with ASD aged 2 to 6 years (n = 200; study 2). The primary endpoint of each is change in Childhood Autism Rating Scale 2 total raw score after 6 months. These studies could contribute to the first pharmacological treatment to improve social reciprocity and limit repetitive and rigid behaviors in children and adolescents with ASD.
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11. Desoete A, Warreyn P. {{Introduction to the Special Issue: Mathematical abilities in developmental disabilities}}. {Res Dev Disabil}. 2020; 107: 103805.
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12. Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. {{NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism}}. {Am J Hum Genet}. 2020; 107(5): 963-76.
NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disability; however, its clinical significance remains unclear. To determine its significance, we assemble genotype and phenotype data for 21 affected individuals from 20 unrelated families with predicted deleterious variants in NCKAP1. This includes 16 individuals with de novo (n = 8), transmitted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural variants, and three with potentially disruptive de novo missense variants. We report a de novo and ultra-rare deleterious variant burden of NCKAP1 in individuals with neurodevelopmental disorders which needs further replication. ASD or autistic features, language and motor delay, and variable expression of intellectual or learning disability are common clinical features. Among inherited cases, there is evidence of deleterious variants segregating with neuropsychiatric disorders. Based on available human brain transcriptomic data, we show that NCKAP1 is broadly and highly expressed in both prenatal and postnatal periods and demostrate enriched expression in excitatory neurons and radial glias but depleted expression in inhibitory neurons. Mouse in utero electroporation experiments reveal that Nckap1 loss of function promotes neuronal migration during early cortical development. Combined, these data support a role for disruptive NCKAP1 variants in neurodevelopmental delay/autism, possibly by interfering with neuronal migration early in cortical development.
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13. Hernández-García I, Chamorro AJ, Ternavasio-de la Vega HG, Carbonell C, Marcos M, Mirón-Canelo JA. {{Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies}}. {Int J Environ Res Public Health}. 2020; 17(21).
Autistic spectrum disorder (ASD) is a complex neurodevelopmental disability with a genetic basis, and several studies have suggested a potential role of the reelin gene (RELN) in ASD susceptibility. Accordingly, genetic association studies have explored this potential association, but the results have been controversial thus far. For this reason, we assessed the association of four genetic variants of RELN (the 5’UTR CGG triplet repeat and polymorphisms rs736707, rs362691, and rs2229864) with ASD by means of a systematic review and meta-analysis. We retrieved studies comparing the distribution of the above-mentioned genetic variants between ASD patients and healthy controls. A meta-analysis was conducted using a random effects model, and calculations of the odds ratios (ORs) and confidence intervals (CIs) were performed. A sensitivity analysis and tests to determine the heterogeneity of the results were also performed. Eleven previous studies fulfilled the inclusion criteria and analyzed the association of the above-mentioned genetic variants and ASD. We did not find any significant association between the allele or genotype frequencies of the analyzed polymorphisms and ASD, and large heterogeneity was found for the rs736707 polymorphism. Moreover, no significant differences were found between the 5’UTR triplet repeat and this disorder. In light of current evidence, no single genetic variant within this gene is clearly associated with the development of ASD, and ethnic differences may explain part of the observed heterogeneity. Larger studies among different ethnic groups are needed to establish the role of specific genetic variants within RELN in the etiology of this disorder.
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14. Hu Y, Pereira AM, Gao X, Campos BM, Derrington E, Corgnet B, Zhou X, Cendes F, Dreher JC. {{Right temporoparietal junction underlies avoidance of moral transgression in Autism Spectrum Disorder}}. {J Neurosci}. 2020.
Autism spectrum disorder (ASD) is characterized by a core deficit in theory-of-mind (ToM) ability, which extends to perturbations in moral judgment and decision-making. Although the function of the right temporoparietal junction (rTPJ), a key neural marker of ToM and morality, is known to be altered in autistic individuals, the neurocomputational mechanisms underlying its specific impairment in moral decision-making remain unclear. Here, we addressed this question by employing a novel fMRI task together with computational modeling and representational similarity analysis (RSA). ASD patients and healthy controls (HC) decided in public or private whether to incur a personal cost for funding a morally-good cause (Good Context) or receive a personal gain for benefiting a morally-bad cause (Bad Context). Compared with HC, individuals with ASD were much more likely to reject the opportunity to earn ill-gotten money by supporting a bad cause than HC. Computational modeling revealed that this resulted from unduly weighing benefits for themselves and the bad cause, suggesting that ASD patients apply a rule of refusing to serve a bad cause because they over-evaluate the negative consequences of their actions. Moreover, RSA revealed a reduced rTPJ representation of the information specific to moral contexts in ASD patients. Together, these findings indicate the contribution of rTPJ in representing information concerning moral rules and provide new insights for the neurobiological basis underpinning moral behaviors illustrated by a specific dysfunction of rTPJ in ASD patients.SignificancePrevious investigations have found an altered pattern of moral behaviors in individuals with autism spectrum disorder (ASD), closely associated with a dysfunction in the right temporoparietal junction (rTPJ). However, the specific neurocomputational mechanisms at play that drive the dysfunction of the rTPJ in moral decision-making remain unclear. Here, we show that ASD individuals are more inflexible when following a moral rule even though an immoral action can benefit themselves, and suffer an undue concern about their ill-gotten gains and the moral cost. Moreover, a selectively reduced rTPJ representation of information concerning moral rules was observed in ASD patients. These findings deepen our understanding of the neurobiological roots that underlie atypical moral behaviors in ASD patients.Editor’s Note:The authors have been made aware of concerns and are working to address them in proofs, before the final version of this article is published.
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15. Huggins CF, Donnan G, Cameron IM, Williams JH. {{Emotional self-awareness in autism: A meta-analysis of group differences and developmental effects}}. {Autism}. 2020: 1362361320964306.
Autistic people are thought to have difficulties with identifying and understanding their own emotions. This is referred to as emotional self-awareness. It is important to study emotional self-awareness as people who are more able to understand their own emotions, whether they are autistic or not, are more able to respond to them appropriately, as well as to identify them in other people. It has not yet been confirmed whether autistic people have difficulties with emotional self-awareness, or if any reported difficulties are actually due to the way in which emotional self-awareness is measured in autistic people. If these difficulties do exist, it is also not known when these difficulties emerge. In this research, we reviewed 47 existing studies that measured emotional self-awareness in autistic and non-autistic adults and children. We also compared studies that measured emotional self-awareness in different ways. We found that autistic adults did seem to have poorer emotional self-awareness compared to their neurotypical peers. However, this was not the case with autistic children of age 12 years and below. Instead, differences in emotional self-awareness only seemed to emerge during adolescence. Moreover, these difficulties seemed to increase with age. These results suggest that difficulties with emotional self-awareness may not be inherent in autism. Instead, they may emerge alongside the greater social and mental health difficulties that are experienced by many autistic people during adolescence. We therefore suggest that it is important to find out more about, and subsequently support, the emotional self-awareness difficulties that autistic adolescents may encounter.
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16. Li H, Liu H, Chen X, Zhang J, Tong G, Sun Y. {{Association of food hypersensitivity in children with the risk of autism spectrum disorder: a meta-analysis}}. {European journal of pediatrics}. 2020.
This meta-analysis was performed to clarify the association between food hypersensitivity in children and autism spectrum disorder (ASD) in detail. Relevant studies published in 8 databases before March 2020 were retrieved and screened according to established inclusion criteria. The odds ratio (OR) with the 95% confidence interval (CI) was pooled to estimate the effect. Subgroup analyses were performed in terms of publication year, study design, location, sample size, definition of food hypersensitivity, definition of ASD, and study quality score. Furthermore, we stratified studies by participant sex and age to perform a more detailed analysis. This meta-analysis included 12 published articles with 434,809 subjects. A significant association was observed between food hypersensitivity and the risk of ASD (OR = 2.792, 95% CI: 2.081-3.746). The risk of ASD among girls and subjects younger than 12 with food hypersensitivity may be greater than that among boys and those older than 12. The results of sensitivity analysis and publication bias analysis show that the association is relatively stable.Conclusion: Our results showed a positive association between food hypersensitivity and autism spectrum disorder, and girls and subjects younger than 12 may be more sensitive to this association. The role of food hypersensitivity in the onset of ASD deserves more attention. What is Known: • Food hypersensitivity is a term used to describe food allergies and food intolerance. • ASD is a group of neurodevelopmental disorders that are characterized by deficits in social interaction, repetitive or stereotypic behavior, and verbal communication disorder. • The prevalence rates of ASD and food hypersensitivity in the developed world are increasing. What is New: • In this work, we reviewed and analyzed the available data and studies and found a positive association between food hypersensitivity and ASD. • Girls and children younger than 12 may be more sensitive to have ASD than boys and children older than 12.
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17. Masini E, Loi E, Vega-Benedetti AF, Carta M, Doneddu G, Fadda R, Zavattari P. {{An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity}}. {International journal of molecular sciences}. 2020; 21(21).
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset.
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18. Mithal DS, Chandel NS. {{Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship}}. {Molecular cell}. 2020; 80(3): 381-3.
Recent work by Licznerski et al. suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane proton leak, leading to increased metabolism and changes in protein synthesis that trigger impaired synaptic maturation and autistic behaviors.
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19. Niego A, Benítez-Burraco A. {{Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood}}. {Autism}. 2020: 1362361320965074.
Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.
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20. Piazza M, Baldeo R, Daniel R. {{Vomiting of unclear etiology in an autistic child-multiple possible diagnoses: A case report}}. {Journal of the American College of Emergency Physicians open}. 2020; 1(5): 1009-12.
Appendicitis is a common complaint in the emergency department (ED) presenting with abdominal pain or vomiting and is often the foremost etiology the provider must rule out using history and physical examination. However, history and physical examination is limited in children and the developmentally delayed who are often non-cooperative. Less commonly, choledochal cysts are found that also require management, or rarer still, multiple possible radiologic or surgical diagnoses. This case report follows a delayed child presenting with vomiting found to have a large type 1 choledochal cyst, cholecystitis, and appendicitis on advanced imaging prompting surgical management of these etiologies. This report reviews the evaluation of children with vomiting and the need for thorough evaluation with advanced imaging when appropriate.
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21. Pitzianti M, Fagioli S, Pontis M, Pasini A. {{Attention Deficits Influence the Development of Motor Abnormalities in High Functioning Autism}}. {Child Psychiatry Hum Dev}. 2020.
Early attentional dysfunction is one of the most consistent findings in autism spectrum disorder (ASD), including the high functioning autism (HFA). There are no studies that assess how the atypical attentional processes affect the motor functioning in HFA. In this study, we evaluated attentional and motor functioning in a sample of 15 drug-naive patients with HFA and 15 healthy children (HC), and possible link between attentional dysfunction and motor impairment in HFA. Compared to HC, HFA group was seriously impaired in a considerable number of attentional processes and showed a greater number of motor abnormalities. Significant correlations between attention deficits and motor abnormalities were observed in HFA group. These preliminary findings suggest that deficit of attentional processes can be implied in motor abnormalities in HFA.
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22. Roche L, Adams D, Clark M. {{Research priorities of the autism community: A systematic review of key stakeholder perspectives}}. {Autism}. 2020: 1362361320967790.
It has become very important in autism research to ask the autistic community about what kinds of research they think should be done in order to improve the lives of people with autism. Many studies have reported on research goals from people within the autism community, such as parents of people on the autism spectrum, and practitioners and clinicians who support people on the autism spectrum. So far, the research goals from all of these studies have not been considered together, which is important so that all autism research can be working towards the same goals. We reviewed seven studies that looked at the priorities for autism research from key people within the autism community. Each of the reviewed studies are described according to (a) the types of people involved in the study, (b) the way the research goals from each group of people were identified, (c) the country where they were from and (d) the most common research goals from across all of the studies. Within these seven studies, research that will lead to real-world changes in the daily lives of the autism community and a greater focus on skill training for people with autism across their lives were found to be very important. From this review, we found that it is also very important to include a range of different people from the autism community when deciding what autism research goals should be focused on so that future research can be more helpful for the autism community.
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23. Rosenbaum P. {{How do we know if interventions in developmental disability are effective?}}. {Dev Med Child Neurol}. 2020; 62(12): 1344.
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24. Sablaban IM, Sivananthan M. {{Letter to the Editor: Treating Autism-Associated Sexual Compulsions with Naltrexone}}. {J Child Adolesc Psychopharmacol}. 2020.
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25. Shattnawi KK, Bani Saeed WM, Al-Natour A, Al-Hammouri MM, Al-Azzam M, Joseph RA. {{Parenting a Child With Autism Spectrum Disorder: Perspective of Jordanian Mothers}}. {Journal of transcultural nursing : official journal of the Transcultural Nursing Society}. 2020: 1043659620970634.
INTRODUCTION: Parenting a child diagnosed with autism spectrum disorder (ASD) is challenging for mothers because of concerns related to behavior, difficulties in accessing specialized care, and lack of community acceptance, yet their stories in Jordanian context are still unknown. Common challenges in Jordan include financial burdens, lack of public awareness, and lack of specialized knowledge even among health care providers, which may lead to delays in obtaining the diagnosis and interventions for ASD. METHOD: A phenomenological descriptive approach was used to explore and understand the mothers’ everyday lived experiences of raising a child with ASD. Semistructured interviews were conducted with 14 mothers to identify their challenges so that nurses can identify gaps in services, empower families, and facilitate optimum care to these Jordanian families. FINDINGS: The main themes that emerged were (1) mothers’ journeys with the diagnosis, in which mothers recognized the abnormalities of their children, reported delays in getting the diagnosis and initiation of treatment, and described a wide range of reactions to the diagnosis from grief and guilt to a blessing from God; (2) the burden of care, by which mothers reported physical and emotional exhaustion, financial burdens, and concerns about the quality of available services; and (3) the consequences and the hurdle of having a child with ASD, which affected the family relationships and social life. DISCUSSION: Jordanian mothers caring for children with ASD face several challenges, including physical, psychological, financial, and social challenges, in addition to limited specialized services. Identifying their unique challenges and needs are essential to support them, provide appropriate services and resources, and develop policies and guidelines for culturally competent quality services.
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26. Stockwell KM, Bottini S, Jaswal VK, Gillis JM. {{Brief Report: Social Behavior and Special Interests in the Stigmatization of Autistic College Students}}. {J Autism Dev Disord}. 2020.
Autistic people, by definition, differ in social behavior from non-autistic individuals. One characteristic common to many autistic people is a special interest in a particular topic-something spoken about with such frequency and intensity that it may be stigmatized by non-autistic peers. We investigated college students’ interest in interacting with peers described as behaving in ways characteristic of autism (or not), and additionally described as having a special interest (or not). As expected, autistic characters were more stigmatized, but autistic characters with a special interest were not more stigmatized than those without. Only among non-autistic characters was having a special interest associated with greater stigmatization. Findings give further insight into factors influencing the stigmatization of autistic college students.
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27. Ueoka I, Pham HTN, Matsumoto K, Yamaguchi M. {{Correction: Ueoka, I., et al. Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents. Int. J. Mol. Sci. 2019, 20, 4071}}. {International journal of molecular sciences}. 2020; 21(21).
The author wishes to make the following correction to this paper […].
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28. Vetri L, Roccella M. {{On the Playing Field to Improve: A Goal for Autism}}. {Medicina (Kaunas, Lithuania)}. 2020; 56(11).
In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to report studies about the effects, improvements and difficulties that people with autism have to face when they play the world’s most popular team sport: soccer.
