1. Bispo-Torres AC, Lucena R, Tavares-Rodrigues IC, Barouh JL, Lins-Silva DH, Dorea-Bandeira I, Souza LS, Faria-Guimarães D, Tolentino A, Miranda-Scippa Â, Hermens DF, Sampaio AS, Quarantini LC, Glozier N, Hickie IB, Bandeira ID. Psychopathological symptoms in parents and siblings of people on the autism spectrum: A systematic review and meta-analysis. Psychiatry research. 2023; 323: 115145.

Parents and siblings of children on the autism spectrum experience significant distress, and for this reason, it is essential to understand the most prevalent psychopathological symptoms among this population. This work aims to establish the prevalence of psychopathological symptoms in parents and siblings of individuals on the autism spectrum, following the Preferred Reporting Items for Systematic Review and Meta-Analyses Protocols (PRISMA-P) criteria. Searches were carried out using the PubMed/Medline, Embase, PsycINFO, SciELO, and Biblioteca Virtual em Saúde (BVS) databases. Twenty-three articles were included in this review. Depressive symptoms were the most frequently reported conditions, with a higher prevalence in mothers of children on the autism spectrum. In the meta-analysis, mothers of children on the autism spectrum scored higher by 0.42 standard deviations on the symptom scales (SMD 0.42; CI 0.25-0.59), with low statistical heterogeneity (I(2) 0%, p = 0.5) when compared with mothers of children with atypical development. The psychopathological symptoms of relatives should be investigated as part of the follow-up procedures for the child on the autism spectrum to facilitate their treatment.

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2. Cui W, Du J, Sun M, Zhu S, Zhao S, Peng Z, Tan L, Li Y. Dynamic multi-site graph convolutional network for autism spectrum disorder identification. Computers in biology and medicine. 2023; 157: 106749.

Multi-site learning has attracted increasing interests in autism spectrum disorder (ASD) identification tasks by its efficacy on capturing data heterogeneity of neuroimaging taken from different medical sites. However, existing multi-site graph convolutional network (MSGCN) often ignores the correlations between different sites, and may obtain suboptimal identification results. Moreover, current feature extraction methods characterizing temporal variations of functional magnetic resonance imaging (fMRI) signals require the time series to be of the same length and cannot be directly applied to multi-site fMRI datasets. To address these problems, we propose a dual graph based dynamic multi-site graph convolutional network (DG-DMSGCN) for multi-site ASD identification. First, a sliding-window dual-graph convolutional network (SW-DGCN) is introduced for feature extraction, simultaneously capturing temporal and spatial features of fMRI data with different series lengths. Then we aggregate the features extracted from multiple medical sites through a novel dynamic multi-site graph convolutional network (DMSGCN), which effectively considers the correlations between different sites and is beneficial to improve identification performance. We evaluate the proposed DG-DMSGCN on public ABIDE I dataset containing data from 17 medical sites. The promising results obtained by our framework outperforms the state-of-the-art methods with increase in identification accuracy, indicating that it has a potential clinical prospect for practical ASD diagnosis. Our codes are available on https://github.com/Junling-Du/DG-DMSGCN.

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3. Deng W, Marmelat V, Vanderbilt DL, Gennaro F, Smith BA. Barcoding, linear and nonlinear analysis of full-day leg movements in infants with typical development and infants at risk of developmental disabilities: Cross-sectional study. Infancy : the official journal of the International Society on Infant Studies. 2023.

Traditional methods do not capture the multidimensional domains and dynamic nature of infant behavioral patterns. We aim to compare full-day, in-home leg movement data between infants with typical development (TD) and infants at risk of developmental disabilities (AR) using barcoding and nonlinear analysis. Eleven infants with TD (2-10 months) and nine infants AR (adjusted age: 2-14 months) wore a sensor on each ankle for 7 days. We calculated the standard deviation for linear variability and sample entropy (SampEn) of leg acceleration and angular velocity for nonlinear variability. Movements were also categorized into 16 barcoding states, and we calculated the SampEn and proportions of the barcoding. All variables were compared between the two groups using independent-samples t-test or Mann-Whitney U test. The AR group had larger linear variability compared to the TD group. SampEn was lower in the AR group compared to TD group for both acceleration and angular velocity. Two barcoding states’ proportions were significantly different between the two groups. The results showed that nonlinear analysis and barcoding could be used to identify the difference of dynamic multidimensional movement patterns between infants AR and infants with TD. This information may help early diagnosis of developmental disabilities in the future.

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4. Harris E. Inflammation Genes Show Age-Dependent Link With Autism. Jama. 2023.

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5. Schaeffer J, Abd El-Raziq M, Castroviejo E, Durrleman S, Ferré S, Grama I, Hendriks P, Kissine M, Manenti M, Marinis T, Meir N, Novogrodsky R, Perovic A, Panzeri F, Silleresi S, Sukenik N, Vicente A, Zebib R, Prévost P, Tuller L. Language in autism: domains, profiles and co-occurring conditions. Journal of neural transmission (Vienna, Austria : 1996). 2023.

This article reviews the current knowledge state on pragmatic and structural language abilities in autism and their potential relation to extralinguistic abilities and autistic traits. The focus is on questions regarding autism language profiles with varying degrees of (selective) impairment and with respect to potential comorbidity of autism and language impairment: Is language impairment in autism the co-occurrence of two distinct conditions (comorbidity), a consequence of autism itself (no comorbidity), or one possible combination from a series of neurodevelopmental properties (dimensional approach)? As for language profiles in autism, three main groups are identified, namely, (i) verbal autistic individuals without structural language impairment, (ii) verbal autistic individuals with structural language impairment, and (iii) minimally verbal autistic individuals. However, this tripartite distinction hides enormous linguistic heterogeneity. Regarding the nature of language impairment in autism, there is currently no model of how language difficulties may interact with autism characteristics and with various extralinguistic cognitive abilities. Building such a model requires carefully designed explorations that address specific aspects of language and extralinguistic cognition. This should lead to a fundamental increase in our understanding of language impairment in autism, thereby paving the way for a substantial contribution to the question of how to best characterize neurodevelopmental disorders.

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6. Song C, Broadie K. Fragile X mental retardation protein coordinates neuron-to-glia communication for clearance of developmentally transient brain neurons. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(12): e2216887120.

In the developmental remodeling of brain circuits, neurons are removed by glial phagocytosis to optimize adult behavior. Fragile X mental retardation protein (FMRP) regulates neuron-to-glia signaling to drive glial phagocytosis for targeted neuron pruning. We find that FMRP acts in a mothers against decapentaplegic (Mad)-insulin receptor (InR)-protein kinase B (Akt) pathway to regulate pretaporter (Prtp) and amyloid precursor protein-like (APPL) signals directing this glial clearance. Neuronal RNAi of Drosophila fragile X mental retardation 1 (dfmr1) elevates mad transcript levels and increases pMad signaling. Neuronal dfmr1 and mad RNAi both elevate phospho-protein kinase B (pAkt) and delay neuron removal but cause opposite effects on InR expression. Genetically correcting pAkt levels in the mad RNAi background restores normal remodeling. Consistently, neuronal dfmr1 and mad RNAi both decrease Prtp levels, whereas neuronal InR and akt RNAi increase Prtp levels, indicating FMRP works with pMad and insulin signaling to tightly regulate Prtp signaling and thus control glial phagocytosis for correct circuit remodeling. Neuronal dfmr1 and mad and akt RNAi all decrease APPL levels, with the pathway signaling higher glial endolysosome activity for phagocytosis. These findings reveal a FMRP-dependent control pathway for neuron-to-glia communication in neuronal pruning, identifying potential molecular mechanisms for devising fragile X syndrome treatments.

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7. Yew RY, Hooley M, Stokes MA. Factors of relationship satisfaction for autistic and non-autistic partners in long-term relationships. Autism : the international journal of research and practice. 2023: 13623613231160244.

Previous research has found that autistic people report lower satisfaction in their romantic relationships compared to non-autistic people. However, the majority of this research has focused on autistic traits as barriers to relationship satisfaction, while overlooking the role of their partners in these relationships. Our study explored a range of factors in both autistic people and non-autistic partners of autistic people and how they may be linked to long-term relationship satisfaction. These factors included social and communication skills, personality traits, social loneliness, partner responsiveness, and sexual satisfaction. We found that partner responsiveness was a strong predictor of relationship satisfaction for both autistic and non-autistic partners, suggesting that rather than focusing intervention solely on the autistic person, the role of their partner should also be considered. Service providers who work with couples involving an autistic person to enhance their relationship satisfaction could focus on assisting their clients to identify each other’s needs and how best to meet them.

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8. Zlatnik K, Milliken A, Weaver M, Sideridis G, Harris H, Harstad E. Gastrointestinal and Sleep Issues in Toddlers With Autism Versus Other Neurodevelopmental Disorders. Clinical pediatrics. 2023: 99228231156774.

Neurodevelopmental disorders (NDDs) are frequently associated with gastrointestinal symptoms (GIS) and sleep issues, but there are insufficient data on the occurrence of these symptoms in young children with autism spectrum disorder (ASD) compared with other NDDs. We abstracted data on 500 children aged 18 to 36 months with ASD and 146 children aged 18 to 47 months with non-ASD NDDs to compare the frequency of these symptoms. In the overall sample, there was a high rate of GIS (46.0%) and sleep difficulties (22.6%). In age-adjusted analyses, children with non-ASD NDDs were more likely to have GIS (61.0% vs 41.6%; adjusted odds ratio [OR] = 2.35; 95% confidence interval = 1.56-3.56) and sleep difficulties (34.9% vs 19.0%; adjusted OR = 2.08; 95% confidence interval = 1.33-3.26) compared with those with ASD. These findings demonstrate the need to assess these symptoms in all young children with developmental concerns to provide appropriate guidance to their families.

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9. Zohny SM, Habib MZ, Mohamad MI, Elayat WM, Elhossiny RM, El-Salam MFA, Hassan GAM, Aboul-Fotouh S. Memantine/Aripiprazole Combination Alleviates Cognitive Dysfunction in Valproic Acid Rat Model of Autism: Hippocampal CREB/BDNF Signaling and Glutamate Homeostasis. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2023.

Significant efforts are increasingly directed towards identifying novel therapeutic targets for autism spectrum disorder (ASD) with a rising role of aberrant glutamatergic transmission in the pathogenesis of ASD-associated cellular and behavioral deficits. This study aimed at investigating the role of chronic memantine (20 mg/kg/day) and aripiprazole (3 mg/kg/day) combination therapy in the management of prenatal sodium valproate (VPA)-induced autistic-like/cognitive deficits in male Wistar rats. Pregnant female rats received a single intraperitoneal injection of VPA (600 mg/kg) to induce autistic-like behaviors in their offspring. Prenatal VPA induced autistic-like symptoms (decreased social interaction and the appearance of stereotyped behavior) with deficits in spatial learning (in Morris water maze) and cognitive flexibility (in the attentional set-shifting task) in addition to decreased hippocampal protein levels of phosphorylated cAMP response element-binding protein (p-CREB), brain-derived neurotrophic factor (BDNF), and gene expression of glutamate transporter-1 (Glt-1) with a decline in GABA/glutamate ratio (both measured by HPLC). These were accompanied by the appearance of numerous neurofibrillary tangles (NFTs) with enhanced apoptosis in hippocampal sections. Memantine/aripiprazole combination increased the protein levels of p-CREB, BDNF, and Glt-1 gene expression with restoration of GABA/glutamate balance, attenuation of VPA-induced neurodegenerative changes and autistic-like symptoms, and improvement of cognitive performance. This study draws attention to the favorable cognitive effects of memantine/aripiprazole combination in autistic subjects which could be mediated via enhancing CREB/BDNF signaling with increased expression of astrocytic Glt-1 and restoration of GABA/glutamate balance, leading to inhibition of hippocampal NFTs formation and neuronal apoptosis.

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