1. Álvarez-Couto M, García-Villamisar D, Del Pozo A. Challenging behaviors in adults with autism spectrum disorder and intellectual disability: A differential analysis from a transdiagnostic approach. J Intellect Disabil;2023 (Jun 14):17446295231184116.

This study aimed at analyzing the differences in challenging behaviors between adults with intellectual disability and ASD and those who only had intellectual disability, as well as to explore associations between transdiagnostic and clinical variables to these differences. Therapists and educators of 163 adults with intellectual disability (83 with additional ASD diagnosis) completed the test battery. Mean difference analysis and univariate analyses of covariance were performed to determine the impact of clinical variables and transdiagnostic variables on the frequency and severity of challenging behaviors. Results showed that adults with ASD and intellectual disability presented higher frequency and severity of these behaviors. A significant effect of the diagnosis of ASD on the frequency and severity of self-injuries and stereotypies was found. Also, some transdiagnostic variables influencing the presence of these behaviors were highlighted. These factors should be considered when planning and designing interventions for behavioral problems in this population.

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2. Brighenti S, Mustacchia L, Cicinelli G, Chieregato S, Comella C, Torrero L, Granata F, Keller R. Social Skills and Cognitive Training to Support Work-Related Skills and Job Placement in a Group of Autistic Adults : Effectiveness of a Neuropsychological and Social Skills Intervention: A Case Series Study on a Pilot Program. Community Ment Health J;2023 (Jun 15)

Autistic people may have difficulties in finding and keeping a job. Studies highlight that only 34% of autistic people are employed compared to 54% of people with disability. 58% of people with ASD have never had a job. Social cognition and cognitive strains may also have a significant impact on working life. The primary goal of our project is supporting autistic people through a training program focused on neuropsychological and social skills training to improve participant’ job skills. Through an Individual Placement and Support model the project involved various Partners to guide, identify skills and interests, provide cognitive and psychological support for autistic people. Results highlighted neuropsychological training efficacy, especially in inhibitory control and good rate of employment status at the end of the project. Findings are encouraging and underline the importance of a multidisciplinary approach to support autistic people in their work life considering their expectations, needs and inclinations.

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3. Folz J, Akdağ R, Nikolić M, van Steenbergen H, Kret ME. Facial mimicry and metacognitive judgments in emotion recognition are distinctly modulated by social anxiety and autistic traits. Sci Rep;2023 (Jun 15);13(1):9730.

Facial mimicry as well as the accurate assessment of one’s performance when judging others’ emotional expressions have been suggested to inform successful emotion recognition. Differences in the integration of these two information sources might explain alterations in the perception of others’ emotions in individuals with Social Anxiety Disorder and individuals on the autism spectrum. Using a non-clinical sample (N = 57), we examined the role of social anxiety and autistic traits in the link between facial mimicry, or confidence in one’s performance, and emotion recognition. While participants were presented with videos of spontaneous emotional facial expressions, we measured their facial muscle activity, asked them to label the expressions and indicate their confidence in accurately labelling the expressions. Our results showed that confidence in emotion recognition was lower with higher social anxiety traits even though actual recognition was not related to social anxiety traits. Higher autistic traits, in contrast, were associated with worse recognition, and a weakened link between facial mimicry and performance. Consequently, high social anxiety traits might not affect emotion recognition itself, but the top-down evaluation of own abilities in emotion recognition contexts. High autistic traits, in contrast, may be related to lower integration of sensorimotor simulations, which promote emotion recognition.

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4. Gießing C. Identifying Reproducible Biomarkers of Autism Based on Functional Brain Connectivity. Biol Psychiatry;2023 (Jul 1);94(1):2-3.

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5. Leisman G, Melillo R, Melillo T. Prefrontal functional connectivities in autism spectrum disorders: A connectopathic disorder affecting movement, interoception, and cognition. Brain Res Bull;2023 (Jun 15);198:65-76.

The prefrontal cortex is included in a neuronal system that includes the basal ganglia, the thalamus, and the cerebellum. Most of the higher and more complex motor, cognitive, and emotional behavioral functions are thought to be found primarily in the frontal lobes. Insufficient connectivity between the medial prefrontal cortex (mPFC) and other regions of the brain that are distant from each other involved in top-down information processing rely on the global integration of data from multiple input sources and enhance low level perception processes (bottom-up information processing). The reduced deactivation in mPFC and in the rest of the Default Network during global task processing is consistent with the integrative modulatory role served by the mPFC. We stress the importance of understanding the degree to which sensory and movement anomalies in individuals with autism spectrum disorder (ASD) can contribute to social impairment. Further investigation on the neurobiological basis of sensory symptoms and its relationship to other clinical features found in ASD is required Treatment perhaps should not be first behaviorally based but rather based on facilitating sensory motor development.

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6. Leung FY, Shah P, Mason D, Livingston LA. Re-examining the association between the age of learning one is autistic and adult outcomes. Autism;2023 (Jun 14):13623613231173056.

An interesting recent study found that people who learned they were autistic at a younger age felt more positive about their lives (i.e., had better quality of life) than those who learned at an older age. However, this study has some limitations: (a) the study only involved a fairly small group of university students, (b) whether ‘learning one is autistic’ referred to learning about one’s diagnosis or receiving one’s diagnosis was unclear, (c) the influence of other factors on the link between age of learning one is autistic and quality of life was not considered, and (d) the assessment of different areas of quality of life was limited. Addressing these limitations, we re-examined whether the age at which one learns they are autistic relates to quality of life in adulthood. Contrary to the previous study, we found the age at which one learns about their autism does not have a significantly independent impact on their quality of life as an adult. Rather, other factors (e.g., autistic traits, sex, and additional mental health conditions) may have a greater impact. Given our participant sample was larger and more diverse in age and education level compared to previous research, this finding is likely to be more applicable to autistic adults from different backgrounds. Importantly, however, we are not suggesting that individuals should be made aware of their diagnosis later than sooner. Getting a timely diagnosis remains crucial for autistic people and their families to access appropriate support.

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7. Li Y, Xie T, Cardoso Melo RD, de Vries M, Lakerveld J, Zijlema W, Hartman CA. Longitudinal effects of environmental noise and air pollution exposure on autism spectrum disorder and attention-deficit/hyperactivity disorder during adolescence and early adulthood: The TRAILS study. Environ Res;2023 (Jun 15);227:115704.

BACKGROUND: Exposure to ambient noise and air pollution may affect the manifestation and severity of Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). However, evidence is limited, and most studies solely assessed environmental exposures during pregnancy and early childhood. OBJECTIVE: To examine the longitudinal effects of ambient noise and air pollutants on ASD and ADHD symptom severity during adolescence and early adulthood. METHODS: Using a longitudinal design, we included 2750 children between 10 and 12 years old from the TRacking Adolescents’ Individual Lives Survey (TRAILS) in the Netherlands, who were assessed in 6 waves from 2001 to 2017. ASD was measured by the Children’s Social Behavior Questionnaire and the Adult Social Behavior Questionnaire. ADHD was measured by Child Behavior Checklist and the Adult Behavior Checklist. Ambient noise and air pollution exposures, including Ozone (O(3)), soot, sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), particulate matter 2.5 (PM(2.5)), and PM(10) were modeled at the residential level according to standardized protocols. The longitudinal associations between exposures and symptom outcomes were examined using linear mixed models. RESULTS: We found evidence that higher levels of exposure to PM were associated with more severe ASD and ADHD symptoms. This association decreased over time. We did not observe any other consistent associations of noise or other air pollutants with ASD and ADHD severity. CONCLUSION: The current study provides evidence for the negative impact of PM on ASD and ADHD symptoms. We did not find evidence of the negative health impact of other air pollutants and noise exposures on ASD or ADHD symptoms. Our study adds more evidence on the presence of associations between PM air pollution and neurodevelopmental diseases among adolescents and young adults.

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8. Lin Y. A deep learning algorithm-based visual strategy intervention study for children with autism spectrum disorders – extraction and detection of children’s behavioral features. Eur Rev Med Pharmacol Sci;2023 (Jun);27(11):4914-4928.

OBJECTIVE: Autism spectrum disorder is a group of neurodevelopmental disorders. The disease’s etiology is unclear, and there is no specific drug treatment for the core symptoms of autism spectrum disease. The study aims to explore effective intervention methods for children with autism spectrum disorders. MATERIALS AND METHODS: This paper proposes a visual strategy intervention method for children with autism spectrum disorders. This method combines feature extraction and abnormal behavior detection and can use a visual cue strategy to integrate children into social groups. Firstly, the spatial-temporal feature fusion structure is added to extract behavioral features from children, and the spatial information contained in MotionNet is fused with temporal features. Optical Flow Feature (OFF) subnetwork is added to the optical flow extraction feature network. Each layer feature is input to the OFF subnet to extract the time feature further. Then, a behavior detection method based on the sequential pool is proposed. This method combines attention mechanism and clustering pool to effectively describe human behavior dynamics in the long, redundant video under complex background. Finally, feature extraction and behavior detection experiments are carried out on SDUFall, Weizmann, and HMDB51 data sets. RESULTS: The model’s accuracy is still slightly higher than others in that only the video Red-Green-Blue (RGB) frame is used as input. Compared with OFF, SDUFall can reach 88.64%, and HMDB51 can only reach 63.81%. In contrast, the proposed model can reach 72.09%, higher than others. The descriptor obtained the best result of 92.57%, which is 3.64%, 2.58%, and 1.73% higher than the other three comparison descriptors. The data show that the method presented here is effective and has advantages in detecting children’s abnormal behavior. CONCLUSIONS: This method and visual intervention for children with autism spectrum disorders can help them to overcome social barriers.

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9. Olde Heuvel F, Ouali Alami N, Aousji O, Pogatzki-Zahn E, Zahn PK, Wilhelm H, Deshpande D, Khatamsaz E, Catanese A, Woelfle S, Schön M, Jain S, Grabrucker S, Ludolph AC, Verpelli C, Michaelis J, Boeckers TM, Roselli F. Shank2 identifies a subset of glycinergic neurons involved in altered nociception in an autism model. Mol Autism;2023 (Jun 14);14(1):21.

BACKGROUND: Autism Spectrum Disorders (ASD) patients experience disturbed nociception in the form of either hyposensitivity to pain or allodynia. A substantial amount of processing of somatosensory and nociceptive stimulus takes place in the dorsal spinal cord. However, many of these circuits are not very well understood in the context of nociceptive processing in ASD. METHODS: We have used a Shank2(-/-) mouse model, which displays a set of phenotypes reminiscent of ASD, and performed behavioural and microscopic analysis to investigate the role of dorsal horn circuitry in nociceptive processing of ASD. RESULTS: We determined that Shank2(-/-) mice display increased sensitivity to formalin pain and thermal preference, but a sensory specific mechanical allodynia. We demonstrate that high levels of Shank2 expression identifies a subpopulation of neurons in murine and human dorsal spinal cord, composed mainly by glycinergic interneurons and that loss of Shank2 causes the decrease in NMDAR in excitatory synapses on these inhibitory interneurons. In fact, in the subacute phase of the formalin test, glycinergic interneurons are strongly activated in wild type (WT) mice but not in Shank2(-/-) mice. Consequently, nociception projection neurons in laminae I are activated in larger numbers in Shank2(-/-) mice. LIMITATIONS: Our investigation is limited to male mice, in agreement with the higher representation of ASD in males; therefore, caution should be applied to extrapolate the findings to females. Furthermore, ASD is characterized by extensive genetic diversity and therefore the findings related to Shank2 mutant mice may not necessarily apply to patients with different gene mutations. Since nociceptive phenotypes in ASD range between hyper- and hypo-sensitivity, diverse mutations may affect the circuit in opposite ways. CONCLUSION: Our findings prove that Shank2 expression identifies a new subset of inhibitory interneurons involved in reducing the transmission of nociceptive stimuli and whose unchecked activation is associated with pain hypersensitivity. We provide evidence that dysfunction in spinal cord pain processing may contribute to the nociceptive phenotypes in ASD.

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10. Ruiz Callejo D, Wouters J, Boets B. Speech-in-noise perception in autistic adolescents with and without early language delay. Autism Res;2023 (Jun 15)

Speech-in-noise perception seems aberrant in individuals with autism spectrum disorder (ASD). Potential aggravating factors are the level of linguistic skills and impairments in auditory temporal processing. Here, we investigated autistic adolescents with and without language delay as compared to non-autistic peers, and we assessed speech perception in steady-state noise, temporally modulated noise, and concurrent speech. We found that autistic adolescents with intact language capabilities and not those with language delay performed worse than NT peers on words-in-stationary-noise perception. For the perception of sentences in stationary noise, we did not observe significant group differences, although autistic adolescents with language delay tend to perform worse in comparison to their TD peers. We also found evidence for a robust deficit in speech-in-concurrent-speech processing in ASD independent of language ability, as well as an association between early language delay in ASD and inadequate temporal speech processing. We propose that reduced voice stream segregation and inadequate social attentional orienting in ASD result in disproportional informational masking of the speech signal. These findings indicate a speech-in-speech processing deficit in autistic adolescents with broad implications for the quality of social communication.

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11. Samuel R, Manikandan B, Russell PSS. Caregiver experiences of feeding children with developmental disabilities: a qualitative study using interpretative phenomenological analysis from India. BMJ Open;2023 (Jun 14);13(6):e072714.

OBJECTIVE: We aimed to explore caregiver experiences of feeding children with developmental disabilities, in the context of it being influenced by biological, personal and social factors. DESIGN: This study applied a qualitative study design through focus group discussions (FGDs), using interpretative phenomenological analysis. Data were analysed using thematic content analysis. SETTING: This study was conducted at the Child Psychiatry Unit of a tertiary care centre in South India, between March and November 2020. PARTICIPANTS: Seventeen mothers of children with developmental disabilities, who provided written informed consent, participated in four FGDs. RESULTS: Three over-arching themes were identified. Feeding experience: (a) a tedious, confusing task; (b) disproportionate onus on mothers; (c) influenced by sociocultural norms. CONCLUSION: Feeding can be a stressful activity for both caregiver and child, influenced by family structure and sociocultural belief systems. Considering caregivers’ emotional status, facilitatory and hindering environmental factors, and actively exploring strategies to promote the generalisation of strategies learnt into real-life outcomes are essential in tailoring deficit-specific feeding interventions.

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12. Stott J, Wright T, Holmes J, Wilson J, Griffiths-Jones S, Foster D, Wright B. A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders. PLoS One;2023;18(6):e0287131.

AIMS: To identify differential expression of shorter non-coding RNA (ncRNA) genes associated with autism spectrum disorders (ASD). BACKGROUND: ncRNA are functional molecules that derive from non-translated DNA sequence. The HUGO Gene Nomenclature Committee (HGNC) have approved ncRNA gene classes with alignment to the reference human genome. One subset is microRNA (miRNA), which are highly conserved, short RNA molecules that regulate gene expression by direct post-transcriptional repression of messenger RNA. Several miRNA genes are implicated in the development and regulation of the nervous system. Expression of miRNA genes in ASD cohorts have been examined by multiple research groups. Other shorter classes of ncRNA have been examined less. A comprehensive systematic review examining expression of shorter ncRNA gene classes in ASD is timely to inform the direction of research. METHODS: We extracted data from studies examining ncRNA gene expression in ASD compared with non-ASD controls. We included studies on miRNA, piwi-interacting RNA (piRNA), small NF90 (ILF3) associated RNA (snaR), small nuclear RNA (snRNA), small nucleolar RNA (snoRNA), transfer RNA (tRNA), vault RNA (vtRNA) and Y RNA. The following electronic databases were searched: Cochrane Library, EMBASE, PubMed, Web of Science, PsycINFO, ERIC, AMED and CINAHL for papers published from January 2000 to May 2022. Studies were screened by two independent investigators with a third resolving discrepancies. Data was extracted from eligible papers. RESULTS: Forty-eight eligible studies were included in our systematic review with the majority examining miRNA gene expression alone. Sixty-four miRNA genes had differential expression in ASD compared to controls as reported in two or more studies, but often in opposing directions. Four miRNA genes had differential expression in the same direction in the same tissue type in at least 3 separate studies. Increased expression was reported in miR-106b-5p, miR-155-5p and miR-146a-5p in blood, post-mortem brain, and across several tissue types, respectively. Decreased expression was reported in miR-328-3p in bloods samples. Seven studies examined differential expression from other classes of ncRNA, including piRNA, snRNA, snoRNA and Y RNA. No individual ncRNA genes were reported in more than one study. Six studies reported differentially expressed snoRNA genes in ASD. A meta-analysis was not possible because of inconsistent methodologies, disparate tissue types examined, and varying forms of data presented. CONCLUSION: There is limited but promising evidence associating the expression of certain miRNA genes and ASD, although the studies are of variable methodological quality and the results are largely inconsistent. There is emerging evidence associating differential expression of snoRNA genes in ASD. It is not currently possible to say whether the reports of differential expression in ncRNA may relate to ASD aetiology, a response to shared environmental factors linked to ASD such as sleep and nutrition, other molecular functions, human diversity, or chance findings. To improve our understanding of any potential association, we recommend improved and standardised methodologies and reporting of raw data. Further high-quality research is required to shine a light on possible associations, which may yet yield important information.

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13. Tamang MK, Ali A, Pertile RN, Cui X, Alexander S, Nitert MD, Palmieri C, Eyles D. Developmental vitamin D-deficiency produces autism-relevant behaviours and gut-health associated alterations in a rat model. Transl Psychiatry;2023 (Jun 14);13(1):204.

Developmental vitamin D (DVD)-deficiency is an epidemiologically established risk factor for autism. Emerging studies also highlight the involvement of gut microbiome/gut physiology in autism. The current study aims to examine the effect of DVD-deficiency on a broad range of autism-relevant behavioural phenotypes and gut health. Vitamin D deficient rat dams exhibited altered maternal care, DVD-deficient pups showed increased ultrasonic vocalizations and as adolescents, social behaviour impairments and increased repetitive self-grooming behaviour. There were significant impacts of DVD-deficiency on gut health demonstrated by alterations to the microbiome, decreased villi length and increased ileal propionate levels. Overall, our animal model of this epidemiologically validated risk exposure for autism shows an expanded range of autism-related behavioural phenotypes and now alterations in gut microbiome that correlate with social behavioural deficits raising the possibility that DVD-deficiency induced ASD-like behaviours are due to alterations in gut health.

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14. Tang Y, Chen D, Liu H, Cai C, Li X. Deep EEG Superresolution via Correlating Brain Structural and Functional Connectivities. IEEE Trans Cybern;2023 (Jul);53(7):4410-4422.

Electroencephalogram (EEG) excels in portraying rapid neural dynamics at the level of milliseconds, but its spatial resolution has often been lagging behind the increasing demands in neuroscience research or subject to limitations imposed by emerging neuroengineering scenarios, especially those centering on consumer EEG devices. Current superresolution (SR) methods generally do not suffice in the reconstruction of high-resolution (HR) EEG as it remains a grand challenge to properly handle the connection relationship amongst EEG electrodes (channels) and the intensive individuality of subjects. This study proposes a deep EEG SR framework correlating brain structural and functional connectivities (Deep-EEGSR), which consists of a compact convolutional network and an auxiliary fully connected network for filter generation (FGN). Deep-EEGSR applies graph convolution adapting to the structural connectivity amongst EEG channels when coding SR EEG. Sample-specific dynamic convolution is designed with filter parameters adjusted by FGN conforming to functional connectivity of intensive subject individuality. Overall, Deep-EEGSR operates on low-resolution (LR) EEG and reconstructs the corresponding HR acquisitions through an end-to-end SR course. The experimental results on three EEG datasets (autism spectrum disorder, emotion, and motor imagery) indicate that: 1) Deep-EEGSR significantly outperforms the state-of-the-art counterparts with normalized mean squared error (NMSE) decreased by 1%-6% and the improvement of signal-to-noise ratio (SNR) up to 1.2 dB and 2) the SR EEG manifests superiority to the LR alternative in ASD discrimination and spatial localization of typical ASD EEG characteristics, and this superiority even increases with the scale of SR.

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15. Thérien VD, Degré-Pelletier J, Barbeau EB, Samson F, Soulières I. Different levels of visuospatial abilities linked to differential brain correlates underlying visual mental segmentation processes in autism. Cereb Cortex;2023 (Jun 14)

The neural underpinnings of enhanced locally oriented visual processing that are specific to autistics with a Wechsler’s Block Design (BD) peak are largely unknown. Here, we investigated the brain correlates underlying visual segmentation associated with the well-established autistic superior visuospatial abilities in distinct subgroups using functional magnetic resonance imaging. This study included 31 male autistic adults (15 with (AUTp) and 16 without (AUTnp) a BD peak) and 28 male adults with typical development (TYP). Participants completed a computerized adapted BD task with models having low and high perceptual cohesiveness (PC). Despite similar behavioral performances, AUTp and AUTnp showed generally higher occipital activation compared with TYP participants. Compared with both AUTnp and TYP participants, the AUTp group showed enhanced task-related functional connectivity within posterior visuoperceptual regions and decreased functional connectivity between frontal and occipital-temporal regions. A diminished modulation in frontal and parietal regions in response to increased PC was also found in AUTp participants, suggesting heavier reliance on low-level processing of global figures. This study demonstrates that enhanced visual functioning is specific to a cognitive phenotypic subgroup of autistics with superior visuospatial abilities and reinforces the need to address autistic heterogeneity by good cognitive characterization of samples in future studies.

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16. Tonizzi I, Usai MC. Math abilities in autism spectrum disorder: A meta-analysis. Res Dev Disabil;2023 (Jun 15);139:104559.

BACKGROUND: Studies focusing on math abilities in autism spectrum disorder (ASD) are limited and often provide inconsistent results. AIM: This meta-analysis was conducted to investigate math abilities in people with autism spectrum disorder (ASD) compared to typically developing (TD) participants. METHODS AND PROCEDURES: According with PRISMA guidelines, a systematic search strategy was adopted. First, 4405 records were identified through database searching; then, the title-abstract screening led to the identification of 58 potentially relevant studies and, finally, after the full-text screening, 13 studies were included. OUTCOMES AND RESULTS: Results shows that the group with ASD (n = 533) performed lower than the TD group (n = 525) with a small-to-medium effect (g=0.49). The effect size was not moderated by task-related characteristics. Instead, sample-related characteristics, specifically age, verbal intellectual functioning, and working memory, were significant moderators. CONCLUSIONS AND IMPLICATIONS: This meta-analysis shows that people with ASD have poorer math skills than their TD peers, suggesting the importance of investigating math abilities in autism, taking into account the role of moderating variables.

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17. Turan B, Algedik Demirayak P, Yildirim Demirdogen E, Gulsen M, Cubukcu HC, Guler M, Alarslan H, Yilmaz AE, Dursun OB. Toward the detection of reduced emotion expression intensity: an autism sibling study. J Clin Exp Neuropsychol;2023 (Jun 15):1-11.

INTRODUCTION: Expressing emotions through spontaneous facial expression is an important nonverbal social communication skill. In our study, we aimed to demonstrate that both children with autism spectrum disorder (ASD) and the non-ASD siblings of children with ASD have deficits in this skill. METHOD: In this study, we analyzed the six core facial emotion expressions of three distinct groups of children – those diagnosed with ASD (n = 60), non-ASD siblings (n = 60), and typically developed children (n = 60). To analyze facial expressions, we employed a computer vision program that uses machine learning algorithms to detect facial features and conducted an evidence-based task that involved assessing participants’ ability to recognize facial emotion expressions. RESULTS: Deficits in spontaneous emotion expression were shown in the children with ASD and in non-ASD siblings when compared with typically developed children. Interestingly, it was determined that these deficits were not related to the severity of the autism symptoms in the ASD group. CONCLUSIONS: The results of the study suggest that computer-based automated analysis of facial expressions with contextual social scenes task holds potential for measuring limitations in the ability to express emotions, and they supplement the traditional clinical assessment of social phenotypical behavior deficits. This applies both to children with ASD and especially, to the non-ASD siblings of children with ASD. This study adds a novel approach to previous literature examining the emotion expression skills.

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18. Vorstman JAS, Scherer SW. Contemplating syndromic autism. Genet Med;2023 (Jun 15):100919.

Genetic factors contribute to the etiology of autism spectrum disorder (ASD), a group of neurodevelopmental conditions with an estimated population prevalence of 2.3%. Further elucidation of the genetic architecture underlying ASD continues. Against this backdrop, we review history and current use of the concept « syndromic autism », which refers to both genetic etiology and phenotypic co-comorbidity. We question whether this term is still helpful, both in clinical and in research contexts. We will outline the arguments in support of potentially abandoning usage of this construct and propose alternative strategies to facilitate the identification of clinically relevant subsets of individuals diagnosed with ASD. The emergence of the concept of syndromic autism, while understandable from a historical perspective, erroneously conflates two different attributions: genetic etiology and phenotypic co-morbidity. Current evidence indicates that these two components are independent, not only when the concept is used to describe individual patients, but also when used as a descriptor of (groups of) genes. Continued usage of distinction between syndromic versus non-syndromic autism may slow scientific progress and negatively affect clinical care. We propose that the use of scientifically valid and clinically useful distinctions will strengthen the evidence-base of clinical and research practice.

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19. Wilkerson JR, Ifrim MF, Valdez-Sinon AN, Hahn P, Bowles JE, Molinaro G, Janusz-Kaminska A, Bassell GJ, Huber KM. FMRP phosphorylation and interactions with Cdh1 regulate association with dendritic RNA granules and MEF2-triggered synapse elimination. Neurobiol Dis;2023 (Jun 15);182:106136.

Fragile X Messenger Ribonucleoprotein (FMRP) is necessary for experience-dependent, developmental synapse elimination and the loss of this process may underlie the excess dendritic spines and hyperconnectivity of cortical neurons in Fragile X Syndrome, a common inherited form of intellectual disability and autism. Little is known of the signaling pathways that regulate synapse elimination and if or how FMRP is regulated during this process. We have characterized a model of synapse elimination in CA1 neurons of organotypic hippocampal slice cultures that is induced by expression of the active transcription factor Myocyte Enhancer Factor 2 (MEF2) and relies on postsynaptic FMRP. MEF2-induced synapse elimination is deficient in Fmr1 KO CA1 neurons, and is rescued by acute (24 h), postsynaptic and cell autonomous reexpression of FMRP in CA1 neurons. FMRP is an RNA binding protein that suppresses mRNA translation. Derepression is induced by posttranslational mechanisms downstream of metabotropic glutamate receptor signaling. Dephosphorylation of FMRP at S499 triggers ubiquitination and degradation of FMRP which then relieves translation suppression and promotes synthesis of proteins encoded by target mRNAs. Whether this mechanism functions in synapse elimination is not known. Here we demonstrate that phosphorylation and dephosphorylation of FMRP at S499 are both necessary for synapse elimination as well as interaction of FMRP with its E3 ligase for FMRP, APC/Cdh1. Using a bimolecular ubiquitin-mediated fluorescence complementation (UbFC) assay, we demonstrate that MEF2 promotes ubiquitination of FMRP in CA1 neurons that relies on activity and interaction with APC/Cdh1. Our results suggest a model where MEF2 regulates posttranslational modifications of FMRP via APC/Cdh1 to regulate translation of proteins necessary for synapse elimination.

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20. Yeh TC, Chen MH, Bai YM, Tsai SJ, Hsu JW, Huang KL, Su TP, Chen TJ, Liang CS. Longitudinal follow-up of subsequent psychiatric comorbidities among children and adolescents with autism spectrum disorder. J Affect Disord;2023 (Jun 15);331:245-250.

BACKGROUND: The mental health of children and adolescents with autism spectrum disorder (ASD) is a concern of recent years. However, a large-scale longitudinal study investigating the risk and the time course of subsequent psychiatric comorbidities is still lacking. METHODS: Using the Taiwan National Health Insurance Research Database, 13,382 children and adolescents with ASD, and 53,528 age- and sex-matched non-ASD controls were enrolled between 2001 and 2009, and followed to the end of 2011. The adjusted hazard ratio (HR) with a corresponding 95 % confidence interval for psychiatric comorbidities among children and adolescents with ASD vs matched controls was estimated. The subjects who developed schizophrenia, bipolar disorder, depressive disorder, anxiety disorder, and obsessive-compulsive disorder (OCD) were identified during the follow-up. RESULTS: Children and adolescents with ASD compared with controls were more likely to be diagnosed with schizophrenia (19.21; 13.74, 26.88), bipolar disorder (17.59; 12.66, 24.44), depressive disorder (5.56; 4.72, 6.56), anxiety disorder (5.01; 4.49, 5.59), and OCD (16.12; 11.66, 22.30) later in life. The time course of subsequent psychiatric comorbidity showed that anxiety disorder occurred first, usually in late childhood, with psychotic and affective disorders proceeding in adolescence. Those with ASD and anxiety disorder had an additionally increased likelihood of developing subsequent psychiatric comorbidity compared with those with ASD only. LIMITATION: In claims data analysis, clinical parameters or possible confounders may not be fully captured. CONCLUSION: Patients with ASD are predisposed to the development of anxiety disorder in late childhood, as well as schizophrenia, bipolar disorder, depressive disorder, and OCD in adolescence.

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21. Zeisel A, Thiel T, Gaigg SB, Roessner V, Ring M. Validation of the German Glasgow Sensory Questionnaire and replication of sensory processing differences in students with higher and lower Autism-Spectrum Quotient. BMC Psychiatry;2023 (Jun 14);23(1):426.

BACKGROUND: The Glasgow Sensory Questionnaire (GSQ) gives insight into sensory processing differences (hypo- and hyper-sensitivity across modalities), which is a clinically defining characteristic of autism spectrum disorder (ASD). Because there is no validated German version of this instrument, this study aimed at validating the German GSQ. Further, a replication of the GSQ’s sensory processing differences was intended. METHODS: University students of Technische Universität or Universitätsklinikum in Dresden, Germany, were recruited via email distribution or the university homepage and 297 German-speaking students completed the online survey, comprising the German GSQ, Autism-Spectrum Quotient (AQ) and Symptom-Checklist (SCL-90). For validation of the German GSQ, confirmatory factor analyses followed by exploratory factor analyses were applied. RESULTS: The German GSQ has moderate to low validity, good to acceptable reliability, and a different internal structure from the original GSQ. Replicating the sensory processing differences in students with higher and lower AQ was not successful. CONCLUSIONS: Results indicate that the GSQ, developed especially for individuals with ASD, is less informative for the general population if there are not enough individuals with higher AQ scores in the sample.

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