Pubmed du 23/11/22

Pubmed du jour

1. Autism 101 commentaries. Autism research : official journal of the International Society for Autism Research. 2022.

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2. Adebayo OL, Dewenter I, Rinne L, Golubiani G, Solomonia R, Müller M. Retraction notice to « Intensified mitochondrial hydrogen peroxide release occurs in all brain regions, affects male as well as female Rett mice, and constitutes a life-long burden » [Arch. Biochem. Biophys. 696 (15 December 2020) 10866]. Archives of biochemistry and biophysics. 2022; 732: 109467.

This article has been retracted: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal). This article has been retracted at the request of the Editor-in-Chief and Authors. Professor Michael Müller approached the journal explaining that he had encountered an issue in the way the spectrofluorometric data analyses was performed. The normalization of the fluorescence curves to their respective starting points (as explained in Figure 1A) overestimated the changes in Mecp2-mutant mice, which usually started at lower levels. This overestimation applies to Figure 3 A-D as well as Table 2 and Table 3 and altered the outcomes of the study. Both the EiC and the authors agreed that a corrigendum would not be appropriate due to the change in conclusion and that the paper should therefore be retracted. The authors apologise for any confusion this paper may have resulted in.

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3. Chan CYZ, Williams K, May T, Wan WH, Brignell A. Is language ability associated with behaviors of concern in autism? A systematic review. Autism research : official journal of the International Society for Autism Research. 2022.

This review systematically synthesized evidence on the association between structural language ability and behaviors of concern (BoC) in autism. Four databases were searched for studies that included >10 autistic participants, measures of structural language (content and/or form of language) and BoC, and an analysis of their association. BoCs included self-injurious behavior (SIB), aggression, tantrums, and externalizing behavior. Methodological quality of studies were assessed using the Newcastle Ottawa Scale. Forty-five publications (n = 11,961) were included. Forty studies were cross-sectional and five were prospective cohort studies. Over 70% of the studies investigating expressive language and SIB (n = 10), aggression (n = 5), tantrums (n = 3), and externalizing behavior (n = 17) reported an inverse association, where lower expressive language ability was associated with increased BoC. Eleven out of sixteen studies of combined expressive and receptive language reported an inverse relationship with SIB or aggression. All outcomes were rated as moderate to very low certainty of evidence. This review highlights evidence showing an inverse association between expressive or combined language ability and SIB, and externalizing behavior in autism. However, further high-quality studies that use standardized, consistent measures of language and behavior and investigate longitudinal associations are needed. Early detection and support for reduced structural language difficulties have substantial potential to assist in reducing BoC.

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4. Chen VC, Wu SI, Lin CF, Lu ML, Chen YL, Stewart R. Association of Prenatal Exposure to Benzodiazepines With Development of Autism Spectrum and Attention-Deficit/Hyperactivity Disorders. JAMA network open. 2022; 5(11): e2243282.

IMPORTANCE: Prenatal exposure to benzodiazepines is reported to be associated with neurodevelopmental disorders among children, but associations of maternal genetic confounding with neurodevelopmental disorders among children have not been taken into consideration. OBJECTIVE: To ascertain whether prenatal benzodiazepine exposure was associated with development of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). DESIGN, SETTING, AND PARTICIPANTS: This cohort study used linked data from birth certificate registration and the Taiwan National Health Insurance Research Database from January 1, 2004, to December 31, 2017, on 1 138 732 mothers with 1 516 846 live births between January 1, 2004, and December 31, 2017. Data were analyzed between February 20, 2021, and September 19, 2022. EXPOSURE: Benzodiazepine exposure during pregnancy (first trimester to third trimester) was defined as having at least one benzodiazepine prescription dispensed. MAIN OUTCOMES AND MEASURES: The main outcomes were ADHD and ASD. RESULTS: There were 1 516 846 children (mean [SD] gestational age, 38.5 [1.8] years; 789 455 boys [52.0%]) born full term who were younger than 14 years of age and followed up to 2017; 5.0% of the children (n = 76 411) were exposed to a benzodiazepine during pregnancy. Benzodiazepine exposure during pregnancy was associated with increased risks of ADHD (first trimester exposure: hazard ratio [HR], 1.24 [95% CI, 1.20-1.28]; second trimester exposure: HR, 1.27 [95% CI, 1.21-1.34]; third trimester exposure: HR, 1.25 [95% CI, 1.14-1.37]) and ASD (first trimester exposure: HR, 1.13 [95% CI, 1.05-1.21]; second trimester exposure: HR, 1.10 [95% CI, 0.98-1.22]; third trimester exposure: HR, 1.21 [95% CI, 1.00-1.47]). However, no differences were found with unexposed sibling controls during the same time frame for ADHD (first trimester exposure: HR, 0.91 [95% CI, 0.83-1.00]; second trimester exposure: HR, 0.89 [95% CI, 0.78-1.01]; third trimester exposure: HR, 1.08 [95% CI, 0.83-1.41]) or ASD (first trimester exposure: HR, 0.92 [95% CI, 0.75-1.14]; second trimester exposure: HR, 0.97 [95% CI, 0.71-1.33]; third trimester exposure: HR, 1.07 [95% CI, 0.53-2.16]). Similar findings were also noted in the stratification analysis of short-acting and long-acting benzodiazepines. CONCLUSIONS AND RELEVANCE: This cohort study suggests that previously described adverse neurodevelopmental outcomes associated with benzodiazepine exposure during pregnancy were likely to be accounted for by maternal genetic confounding.

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5. Di Y, Diao Z, Zheng Q, Li J, Cheng Q, Li Z, Fang S, Wang H, Wei C, Zheng Q, Liu Y, Han J, Liu Z, Fan J, Ren W, Tian Y. Differential Alterations in Striatal Direct and Indirect Pathways Mediate Two Autism-like Behaviors in Valproate-Exposed Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2022; 42(41): 7833-47.

Autism is characterized by two key diagnostic criteria including social deficits and repetitive behaviors. Although recent studies implicated ventral striatum in social deficits and dorsal striatum in repetitive behaviors, here we revealed coexisting and opposite morphologic and functional alterations in the dorsostriatal direct and indirect pathways, and such alterations in these two pathways were found to be responsible, respectively, for the two abovementioned different autism-like behaviors exhibited by male mice prenatally exposed to valproate. The alteration in direct pathway was characterized by a potentiated state of basal activity, with impairment in transient responsiveness of D1-MSNs during social exploration. Concurrent alteration in indirect pathway was a depressed state of basal activity, with enhancement in transient responsiveness of D2-MSNs during repetitive behaviors. A causal relationship linking such differential alterations in these two pathways to the coexistence of these two autism-like behaviors was demonstrated by the cell type-specific correction of abnormal basal activity in the D1-MSNs and D2-MSNs of valproate-exposed mice. The findings support those differential alterations in two striatal pathways mediate the two coexisting autism-like behavioral abnormalities, respectively. This result will help in developing therapeutic options targeting these circuit alterations.SIGNIFICANCE STATEMENT Autism is characterized by two key diagnostic criteria including social deficits and repetitive behaviors. Although a number of recent studies have implicated ventral striatum in social deficits and dorsal striatum in repetitive behaviors, but social behaviors need to be processed by a series of actions, and repetitive behaviors, especially the high-order repetitive behaviors such as restrictive interests, have its scope to cognitive and emotional domains. The current study, for the first time, revealed that prenatal valproate exposure induced coexisting and differential alterations in the dorsomedial striatal direct and indirect pathways, and that these alterations mediate the two coexisting autism-like behavioral abnormalities, respectively. This result will help in developing therapeutic options targeting these circuit alterations to address the behavioral abnormalities.

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6. Dindar K, Loukusa S, Leinonen E, Mäkinen L, Mämmelä L, Mattila ML, Ebeling H, Hurtig T. Autistic adults and adults with sub-clinical autistic traits differ from non-autistic adults in social-pragmatic inferencing and narrative discourse. Autism : the international journal of research and practice. 2022: 13623613221136003.

Previous social-pragmatic and narrative research involving autistic individuals has mostly focused on children. Little is known about how autistic adults and adults who have autistic traits but do not have a diagnosis of an autism spectrum disorder (ASD) interpret complex social situations and tell narratives about these situations. We asked 32 autistic young adults, 18 adults with autistic traits but no ASD diagnosis, and 34 non-autistic young adults to watch socially complex situations and freely tell narratives about what they thought was occurring in each situation. These narratives were analysed for how the participants had interpreted the situations and for the type of narratives they produced. We found that the groups had both similarities and differences. Regarding the differences, we found that the autistic adults and adults with autistic traits interpreted the situations differently from the non-autistic adults. The autistic adults found different aspects of the situations relevant, had different foci and placed greater importance on details than the non-autistic adults. The autistic adults and adults with autistic traits also differed from the non-autistic adults by having more detail- and event-focused narratives whereas the non-autistic adults were more likely to base their narratives on their own broad interpretations of the situations. Perceptual processing styles appeared to play a bigger role in interpreting the situations for the autistic adults and adults with autistic traits than the non-autistic adults. Our findings suggest that autistic adults and adults with autistic traits focus on different aspects in their social world than non-autistic adults.

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7. Dutra ML, Dias P, Freiberger V, Ventura L, Comim CM, Martins DF, Bobinski F. Maternal immune activation induces autism-like behavior and reduces brain-derived neurotrophic factor levels in the hippocampus and offspring cortex of C57BL/6 mice. Neuroscience letters. 2022; 793: 136974.

Prenatal factors such as viral or bacterial infections occurring mainly during the first trimesters of pregnancy can increase the incidence of autism spectrum disorder (ASD) in children. In an animal model, it is already known that maternal immune activation (MIA) induces autistic-like behavior. However, it is unclear whether this behavior presents itself in young animals. In this preclinical experimental study, we investigated in the offspring of C57BL/6 female mice submitted to MIA with lipopolysaccharide (LPS), typically altered behaviors in ASD, such as social interaction and stereotyped self-grooming movement, as well as the levels of the brain-derived neurotrophic factor (BDNF) and interleukin 17A (IL-17A) in the hippocampus and cortex, at 28 and 60 days. Adult animals aged 60 days, offspring of females submitted to MIA, showed a decrease in the time of social interaction and an increase in the number of self-cleaning movements. In the hippocampus of the offspring of females submitted to MIA, a decrease in BDNF levels was found at 28 days and 60 days of life, and a decrease in IL-17A levels only at 60 days. The levels of BDNF and IL-17A did not change in the cortex of the offspring of mice submitted to MIA at the evaluated times. Young animals aged 28 days still showed typical behavior, without social deficits and stereotyped movements that characterize ASD, which suggests that at this age it is still not possible to observe the repercussions of MIA in this model. In the neurochemical issues of the hippocampal region, impairment of BDNF levels has already been demonstrated, which may be an important factor for the observation of ASD-like behaviors in adult mice at 60 days.

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8. Floris DL, Peng H, Warrier V, Lombardo MV, Pretzsch CM, Moreau C, Tsompanidis A, Gong W, Mennes M, Llera A, van Rooij D, Oldehinkel M, Forde NJ, Charman T, Tillmann J, Banaschewski T, Moessnang C, Durston S, Holt RJ, Ecker C, Dell’Acqua F, Loth E, Bourgeron T, Murphy DGM, Marquand AF, Lai MC, Buitelaar JK, Baron-Cohen S, Beckmann CF. The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. The American journal of psychiatry. 2022: appiajp20220194.

OBJECTIVE: The male preponderance in prevalence of autism is among the most pronounced sex ratios across neurodevelopmental conditions. The authors sought to elucidate the relationship between autism and typical sex-differential neuroanatomy, cognition, and related gene expression. METHODS: Using a novel deep learning framework trained to predict biological sex based on T(1)-weighted structural brain images, the authors compared sex prediction model performance across neurotypical and autistic males and females. Multiple large-scale data sets comprising T(1)-weighted MRI data were employed at four stages of the analysis pipeline: 1) pretraining, with the UK Biobank sample (>10,000 individuals); 2) transfer learning and validation, with the ABIDE data sets (1,412 individuals, 5-56 years of age); 3) test and discovery, with the EU-AIMS/AIMS-2-TRIALS LEAP data set (681 individuals, 6-30 years of age); and 4) specificity, with the NeuroIMAGE and ADHD200 data sets (887 individuals, 7-26 years of age). RESULTS: Across both ABIDE and LEAP, features positively predictive of neurotypical males were on average significantly more predictive of autistic males (ABIDE: Cohen’s d=0.48; LEAP: Cohen’s d=1.34). Features positively predictive of neurotypical females were on average significantly less predictive of autistic females (ABIDE: Cohen’s d=1.25; LEAP: Cohen’s d=1.29). These differences in sex prediction accuracy in autism were not observed in individuals with ADHD. In autistic females, the male-shifted neurophenotype was further associated with poorer social sensitivity and emotional face processing while also associated with gene expression patterns of midgestational cell types. CONCLUSIONS: The results demonstrate an increased resemblance in both autistic male and female individuals’ neuroanatomy with male-characteristic patterns associated with typically sex-differential social cognitive features and related gene expression patterns. The findings hold promise for future research aimed at refining the quest for biological mechanisms underpinning the etiology of autism.

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9. Garcia JM, Odahowski CL. An urban versus rural comparison of obesity between youth with and without autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022.

To examine obesity prevalence in youth with autism spectrum disorder (ASD) and neurotypical (NT) youth living in rural and urban areas. Data is from the 2019 National Survey of Children’s Health, a national dataset that collected information on child health and well-being. Overweight/obesity status was based on parent/caregiver report of child height and weight. Urban and rural status was determined by whether children lived in/near a city. Chi-square tests were conducted to examine differences in obesity prevalence in youth with ASD and NT youth living in rural and urban areas. Overall, 43.9% of youth with ASD were overweight/obese compared to 30.6% of NT youth (p < 0.001). There was a significantly higher proportion of NT youth living in rural areas (36.44%) who were overweight/obese compared to urban NT youth (30.35%, p = 0.002). There were no significant differences in the proportion of overweight/obese youth with ASD living in rural areas (44.02%) compared to urban areas (44.44%, p = 0.96). Urban residence reduced the odds of overweight/obese compared to rural residence among NT youth (aOR = 0.77, 95%CI = 0.66-0.90) but urban/rural residence was not a significant factor in models for ASD youth (aOR = 1.25, 95%CI = 0.63-2.48). In contrast to NT youth, there were no differences in levels of overweight/obesity in youth with ASD living in rural areas compared to urban areas. Further research on how sociodemographic factors and geographic location affect obesity in youth with ASD is warranted.

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10. Goenka A, Fonseca LD, Yu SG, George MC, Wong C, Stolfi A, Kumar G. Staring spells in children with autism spectrum disorder: A clinical dilemma. Autism : the international journal of research and practice. 2022: 13623613221137240.

It is a common occurrence for children with autism spectrum disorder to be diagnosed with staring spells. Staring spells are defined as periods of time when children « space out » and are subcategorized as either « absence seizures » (brain activity resembling a seizure but with no physical seizure symptoms) or « non-epileptic spells » (inattentiveness or daydreaming). Due to the subtle characteristics of staring spells, they are usually diagnosed via long-term video electroencephalogram. The child is monitored for 3-5 days with an electroencephalogram which records brain waves. An electroencephalogram may be difficult to perform in children with autism spectrum disorder due to behavior, cognitive, or sensory concerns. Therefore, we wanted to investigate other clinical characteristics that may help us differentiate between epileptic seizures versus non-epileptic spells in children with autism spectrum disorder presenting with staring spells. We reviewed 140 charts retrospectively from the years of 2010-2021. We abstracted demographic and clinical information from the electronic medical record system and reviewed electroencephalogram videos to group the 140 children into epileptic seizure diagnosis group versus non-epileptic spell group. Of the 140 children in this study, 22 were diagnosed with epileptic seizures and the remaining were diagnosed with non-epileptic spells. We found that the two groups differed in certain clinical characteristics such as how long the staring spells lasted, how many staring spells the child had in 1 week, and whether they responded to verbal commands. We believe that clinical features may be helpful in differentiating epileptic seizures from non-epileptic spells in children with autism spectrum disorder.

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11. Hamilton C, Liebert A, Pang V, Magistretti P, Mitrofanis J. Lights on for Autism: Exploring Photobiomodulation as an Effective Therapeutic Option. Neurology international. 2022; 14(4): 884-93.

Autism is a neurodevelopmental condition that starts in childhood and continues into adulthood. The core characteristics include difficulties with social interaction and communication, together with restricted and repetitive behaviours. There are a number of key abnormalities of brain structure and function that trigger these behavioural patterns, including an imbalance of functional connectivity and synaptic transmission, neuronal death, gliosis and inflammation. In addition, autism has been linked to alterations in the gut microbiome. Unfortunately, as it stands, there are few treatment options available for patients. In this mini-review, we consider the effectiveness of a potential new treatment for autism, known as photobiomodulation, the therapeutic use of red to near infrared light on body tissues. This treatment has been shown in a range of pathological conditions-to improve the key changes that characterise autism, including the functional connectivity and survival patterns of neurones, the patterns of gliosis and inflammation and the composition of the microbiome. We highlight the idea that photobiomodulation may form an ideal treatment option for autism, one that is certainly worthy of further investigation.

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12. Kuroda M, Kawakubo Y, Kamio Y, Yamasue H, Kono T, Nonaka M, Matsuda N, Kataoka M, Wakabayashi A, Yokoyama K, Kano Y, Kuwabara H. Preliminary efficacy of cognitive-behavioral therapy on emotion regulation in adults with autism spectrum disorder: A pilot randomized waitlist-controlled study. PloS one. 2022; 17(11): e0277398.

Previous studies have demonstrated the clinical utility of cognitive-behavioral therapy in improving emotion regulation in children on the autism spectrum. However, no studies have elucidated the clinical utility of cognitive-behavioral therapy in improving emotion regulation in autistic adults. The aim of the present pilot study was to explore the preliminary clinical utility of a group-based cognitive-behavioral therapy program designed to address emotion regulation skills in autistic adults. We conducted a clinical trial based on a previously reported protocol; 31 participants were randomly allocated to the intervention group and 29 to the waitlist control group. The intervention group underwent an 8-week program of cognitive-behavioral therapy sessions. Two participants from the intervention group withdrew from the study, leaving 29 participants (93.5%) in the group. Compared with the waitlist group, the cognitive-behavioral therapy group exhibited significantly greater pre-to-post (Week 0-8) intervention score improvements on the attitude scale of the autism spectrum disorder knowledge and attitude quiz (t = 2.21, p = 0.03, d = 0.59) and the difficulty describing feelings scale of the 20-item Toronto Alexithymia Scale (t = -2.07, p = 0.04, d = -0.57) in addition to pre-to-follow-up (Week 0-16) score improvements on the emotion-oriented scale of the Coping Inventory for Stressful Situations (t = -2.14, p = 0.04, d = -0.59). Our study thus provides preliminary evidence of the efficacy of the group-based cognitive-behavioral therapy program on emotion regulation in autistic adults, thereby supporting further evaluation of the effectiveness of the cognitive-behavioral therapy program in the context of a larger randomized clinical trial. However, the modest and inconsistent effects underscore the importance of continued efforts to improve the cognitive-behavioral therapy program beyond current standards.

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13. Liu X, Cui Y, Zhang Y, Xiang G, Yu M, Wang X, Qiu B, Li XG, Liu W, Zhang D. Rescue of social deficits by early-life melatonin supplementation through modulation of gut microbiota in a murine model of autism. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2022; 156: 113949.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a rapidly increasing global prevalence. Early unstable and immature microbiota are often observed in ASD patients, resulting in neurobehavioral dysfunction. Since the establishment of stable gut microbiota in early life falls into the same critical time window as neurodevelopment, manipulations of the gut microbiota during early life could become a promising strategy for ASD. Melatonin is an endogenous hormone and can restore gut microbial dysbiosis under various disease conditions. Here, we explored the effects of melatonin supplementation during early life on the gut microbiota of the offspring and the subsequent impact on ASD-associated behaviors. Using the valproic acid (VPA) – induced mouse model of autism, we found that melatonin supplementation during late gestation and early postnatal development rescued the social deficits of the offspring. In addition, melatonin restored gut microbial dysbiosis in the VPA-exposed offspring, which was characterized by the significant upregulation of Akkermansia spp. Furthermore, supplementation of Akkermansia spp. alleviated the social deficits induced by VPA exposure via activating the dopaminergic neurons in the ventral tegmental area. These findings discover a novel mechanism underlying the gut microbiota regulation of social behaviors and provide the biological basis for developing gut microbiota-based therapeutics for ASD.

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14. Luckasson R, Schalock RL, Tassé MJ, Shogren KA. The intellectual and developmental disability shared citizenship paradigm: its cross-cultural status, implementation and confirmation. Journal of intellectual disability research : JIDR. 2022.

BACKGROUND: Dramatic changes in societal approaches to people with intellectual and developmental disabilities (IDD), and the services and supports they receive are reflected in a new paradigm that we name the shared citizenship paradigm. The shared citizenship paradigm (1) incorporates an updated and contemporary set of values and beliefs about people with IDD and their right to participate fully in all aspects of life and society; (2) is characterised by a holistic approach to IDD, a contextual model of human functioning, disability rights principles and person-centred implementation strategies; (3) incorporates the exponential growth in knowledge about the causes and characteristics of IDD and factors influencing the elimination of barriers to positive outcomes for people with IDD; and (4) is reflected in international covenants, such as the United Nations Convention on the Rights of People with Disabilities (UNCRPD), and in international policy goals and associated personal outcome domains. METHOD: We conducted a preliminary survey on the cross-cultural status of the shared citizenship paradigm with a small purposefully sampled international group of professionals known to have extensive knowledge, experience, and publications regarding their country’s current IDD-related policies and practices. RESULTS: One or more paradigm components were evident to a moderate degree in the respondents’ countries, and the paradigm is being used to provide individualised services and supports, to guide organisation transformation and systems change, and, to a lesser degree, to frame evidence-based inquiry. CONCLUSIONS: Core components of the shared citizenship paradigm are present internationally. To further enhance implementation and confirmation of the paradigm, we propose implementation strategies and confirmation techniques.

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15. Nabi SU, Rehman MU, Arafah A, Taifa S, Khan IS, Khan A, Rashid S, Jan F, Wani HA, Ahmad SF. Treatment of Autism Spectrum Disorders by Mitochondrial-targeted Drug: Future of Neurological Diseases Therapeutics. Current neuropharmacology. 2022.

Autism is a neurodevelopmental disorder with a complex etiology that might involve environmental and genetic variables. Recently, some epidemiological studies conducted in various parts of the world have estimated a significant increase in the prevalence of autism, with 1 in every 59 children having some degree of autism. Since autism has been associated with other clinical abnormalities, there is every possibility that a sub-cellular component may be involved in the progression of autism. The organelle remains a focus based on mitochondria’s functionality and metabolic role in cells. Furthermore, the mitochondrial genome is inherited maternally and has its DNA and organelle that remain actively involved during embryonic development; these characteristics have linked mitochondrial dysfunction to autism. Although rapid stride has been made in autism research, there are limited studies that have made particular emphasis on mitochondrial dysfunction and autism. Accumulating evidence from studies conducted at cellular and sub-cellular levels has indicated that mitochondrial dysfunction’s role in autism is more than expected. The present review has attempted to describe the risk factors of autism, the role of mitochondria in the progression of the disease, oxidative damage as a trigger point to initiate mitochondrial damage, which manifests as Autism Spectrum Disorders (ASD), genetic determinants of the disease, possible pathogenic pathways and therapeutic regimen in vogue and the developmental stage. Furthermore, in the present review, an attempt has been made to include the novel therapeutic regimens under investigation at different clinical trial stages and their potential possibility to emerge as promising drugs against ASD.

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16. Odermatt SD, Möhring W, Grieder S, Grob A. Cognitive and Developmental Functions in Autistic and Non-Autistic Children and Adolescents: Evidence from the Intelligence and Development Scales-2. Journal of Intelligence. 2022; 10(4).

Autistic individuals often show impairments in cognitive and developmental domains beyond the core symptoms of lower social communication skills and restricted repetitive behaviors. Consequently, the assessment of cognitive and developmental functions constitutes an essential part of the diagnostic evaluation. Yet, evidence on differential validity from intelligence and developmental tests, which are commonly used with autistic individuals, varies widely. In the current study, we investigated the cognitive (i.e., intelligence, executive functions) and developmental (i.e., psychomotor skills, social-emotional skills, basic skills, motivation and attitude, participation during testing) functions of autistic and non-autistic children and adolescents using the Intelligence and Development Scales-2 (IDS-2). We compared 43 autistic (M(age) = 12.30 years) with 43 non-autistic (M(age) = 12.51 years) participants who were matched for age, sex, and maternal education. Autistic participants showed significantly lower mean values in psychomotor skills, language skills, and the evaluation of participation during testing of the developmental functions compared to the control sample. Our findings highlight that autistic individuals show impairments particularly in motor and language skills using the IDS-2, which therefore merit consideration in autism treatment in addition to the core symptoms and the individuals’ intellectual functioning. Moreover, our findings indicate that particularly motor skills might be rather neglected in autism diagnosis and may be worthy of receiving more attention. Nonsignificant group differences in social-emotional skills could have been due to compensatory effects of average cognitive abilities in our autistic sample.

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17. Pattison E, Papadopoulos N, Fuller-Tyszkiewicz M, Sciberras E, Hiscock H, Williams K, McGillivray J, Mihalopoulos C, Bellows ST, Marks D, Howlin P, Rinehart N. Randomised Controlled Trial of a Behavioural Sleep Intervention, ‘Sleeping Sound’, for Autistic Children: 12-Month Outcomes and Moderators of Treatment. Journal of autism and developmental disorders. 2022: 1-16.

This study examined the sustained and moderating effects of a behavioural sleep intervention for autistic children in a randomised controlled trial. Autistic children (5-13 years) with sleep problems were randomised to the Sleeping Sound intervention or Treatment as Usual (TAU). At 12-month follow-up (n = 150), caregivers of children in the Sleeping Sound group reported greater reduction in child sleep problems compared to TAU (p < .001, effect size: - 0.4). The long-term benefits of the intervention were greater for children taking sleep medication, children of parents who were not experiencing psychological distress, and children with greater autism severity. The Sleeping Sound intervention demonstrated sustained improvements in child sleep. Identified moderators may inform treatment by indicating which subgroups may benefit from further support.

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18. Rong Y, Weng Y, Chen F, Peng G. Categorical perception of Mandarin lexical tones in language-delayed autistic children. Autism : the international journal of research and practice. 2022: 13623613221138687.

Some theories suggested that autistic people have better pitch perception skills than non-autistic people. However, in a context where pitch patterns are used to differentiate word meanings (i.e. lexical tones), autistic people may encounter difficulties, especially those with less language experience. We tested this by asking language-delayed autistic children to identify and discriminate two Mandarin lexical tones (/yi/ with Tone 1, meaning ‘clothes’; /yi/ with Tone 2, meaning ‘aunt’; /yi/: the standard romanization of Mandarin Chinese). On average, these autistic children were 7.35 years old, but their developmental age in language ability was 4.20, lagging behind 7-year-old non-autistic children in terms of language ability. Autistic children’s performance in identifying and discriminating lexical tones was compared with two groups of non-autistic children: one group was matched with the autistic group on age, and the other was matched based on language ability. Autistic children performed differently from the non-autistic children matched on age, while autistic and non-autistic children matched on language ability exhibited seemingly similar performance. However, both the non-autistic groups have developed the perceptual ability to process lexical tones as different categories, but this ability was still developing in autistic children. Finally, we found autistic children who performed worse in identifying lexical tones had poorer language ability. The results suggest that language disability might have adverse influence on the development of skills of speech sound processing.

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19. Ross A, Grove R, McAloon J. The relationship between camouflaging and mental health in autistic children and adolescents. Autism research : official journal of the International Society for Autism Research. 2022.

Camouflaging involves the masking of autistic traits in social situations. While camouflaging may function as a potential barrier to the early diagnosis of autism, minimal research into camouflaging in autistic young people has been conducted. It is also important to evaluate the impact of camouflaging on the mental health of autistic children and adolescents. This study evaluated camouflaging in a sample of 359 female and 374 male autistic children and adolescents (4-17 years, 48.9% females). Findings indicated that camouflaging was a significant predictor of internalizing (i.e., anxiety, depression, somatic complaints) symptoms, when controlling for age, gender, and IQ. We also found evidence for some gender differences in camouflaging. Parents endorsed more autistic traits for females compared with males, whereas there were no differences in autistic traits across sex in the clinician-administered assessment. There was also evidence for a relationship between age and camouflaging, with adolescents showing a larger discrepancy between parent and clinician reported autistic traits. This has implications for clinical assessment and future research and is important for understanding how best to support the mental health of autistic children and adolescents.

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20. Roussel J, Larcher R, Sicard P, Bideaux P, Richard S, Marmigère F, Thireau J. The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice. Scientific reports. 2022; 12(1): 20150.

Recent understanding of Autism Spectrum Disorder (ASD) showed that peripheral primary mechanosensitive neurons involved in touch sensation and central neurons affected in ASD share transcriptional regulators. Mutant mice for ASD-associated transcription factors exhibit impaired primary tactile perception and restoring those genes specifically in primary sensory neurons rescues some of the anxiety-like behavior and social interaction defects. Interestingly, peripheral mechanosensitive sensory neurons also project to internal organs including the cardiovascular system, and an imbalance of the cardio-vascular sympathovagal regulation is evidenced in ASD and intellectual disability. ASD patients have decreased vagal tone, suggesting dysfunction of sensory neurons involved in cardio-vascular sensing. In light of our previous finding that the ASD-associated Meis2 gene is necessary for normal touch neuron development and function, we investigated here if its inactivation in mouse peripheral sensory neurons also affects cardio-vascular sympathovagal regulation and baroreflex. Combining echocardiography, pharmacological challenge, blood pressure monitoring, and heart rate variability analysis, we found that Meis2 mutant mice exhibited a blunted vagal response independently of any apparent cardiac malformation. These results suggest that defects in primary sensory neurons with mechanosensitive identity could participate in the imbalanced cardio-vascular sympathovagal tone found in ASD patients, reinforcing current hypotheses on the role of primary sensory neurons in the etiology of ASD.

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21. Shin HM, Oh J, Schmidt RJ, Pearce EN. Prenatal Exposure to Per- and Polyfluoroalkyl Substances, Maternal Thyroid Dysfunction, and Child Autism Spectrum Disorder. Endocrinology and metabolism (Seoul, Korea). 2022.

Autism spectrum disorder (ASD), with its high economic and societal costs, is a growing public health concern whose prevalence has risen steadily over the last two decades. Although actual increased incidence versus improved diagnosis remains controversial, the increased prevalence of ASD suggests non-inherited factors as likely contributors. There is increasing epidemiologic evidence that abnormal maternal thyroid function during pregnancy is associated with increased risk of child ASD and other neurodevelopmental disorders. Prenatal exposure to endocrine-disrupting chemicals such as per- and polyfluoroalkyl substances (PFAS) is known to disrupt thyroid function and can affect early brain development; thus, thyroid dysfunction is hypothesized to mediate this relationship. The concept of a potential pathway from prenatal PFAS exposure through thyroid dysfunction to ASD etiology is not new; however, the extant literature on this topic is scant. The aim of this review is to evaluate and summarize reports with regard to potential mechanisms in this pathway.

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22. Zhang M, Hu X, Jiao J, Yuan D, Li S, Luo T, Wang M, Situ M, Sun X, Huang Y. Brain white matter microstructure abnormalities in children with optimal outcome from autism: a four-year follow-up study. Scientific reports. 2022; 12(1): 20151.

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder, with only a small proportion of people obtaining optimal outcomes. We do not know if children with ASD exhibit abnormalities in the white matter (WM) microstructure or if this pattern would predict ASD prognosis in a longitudinal study. 182 children with ASD were recruited for MRI and clinical assessment; 111 completed a four-year follow-up visit (30 with optimal outcomes, ASD-; 81 with persistent diagnosis, ASD+). Additionally, 72 typically developing controls (TDC) were recruited. The microstructural integrity of WM fiber tracts was revealed using tract-based spatial statistics (TBSS) and probabilistic tractography analyses. We examined the neuroimaging abnormality associated with ASD and its relationship to ASD with optimal outcome. The ASD+ and TDC groups were propensity score matched to the ASD- group in terms of age, gender, and IQ. TBSS indicated that children with ASD exhibited abnormalities in the superior longitudinal fasciculus (SLF), inferior longitudinal fasciculus (ILF), and extending to the anterior thalamic radiation (ATR) and cingulum; whereas the ASD+ group showed more severe abnormalities than the ASD- group. Probabilistic tractography analysis revealed that ASD+ group exhibited lower Fractional Anisotropy (FA) of the left superior thalamic radiation (STR L) than ASD- group, and that FA value of the STR L was a significant predictor of optimal outcome (EX(B), 6.25; 95% CI 2.50-15.63; p < 0.001). Children with ASD showed significant variations in SLF_L and STR_L, and STR_L was a predictor of 'ASD with optimal outcome'. Our findings may aid in comprehension of the mechanisms of 'ASD with optimal outcome'.

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