1. Caubit X, Gubellini P, Roubertoux PL, Carlier M, Molitor J, Chabbert D, Metwaly M, Salin P, Fatmi A, Belaidouni Y, Brosse L, Kerkerian-Le Goff L, Fasano L. Correction: Targeted Tshz3 deletion in corticostriatal circuit components segregates core autistic behaviors. Transl Psychiatry;2022 (May 23);12(1):211.

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2. Choueiri R, Garrison WT, Tokatli V. Early Identification of Autism Spectrum Disorder (ASD): Strategies for Use in Local Communities. Indian J Pediatr;2022 (May 23)

Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a paucity of data on the prevalence of ASD in low- and middle-income countries (LMIC), but early identification may be further delayed in those communities. In this paper, recent studies on strategies for the early detection of ASD, and the prevalence of ASD in LMIC are reviewed. The limitations that can arise in the early identification of ASD in LMIC communities are discussed, and screening tools and strategies that can be helpful are identified. The goal is to recommend models that are culturally appropriate and scientifically valid, easily integrated within community settings while strengthening community systems and reducing disparities in the early identification of ASD. Starting locally by simplifying and demystifying the ASD identification process and building community connections will inform global researchers and policymakers while making a difference in the lives of the children and families affected by ASD.

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3. Duan L, Yin H, Liu J, Wang W, Li J, Shen J, Liu L, Wang Z. Fetal neurodevelopmental spatio-temporal dynamic transcriptional landscape of maternal insult-induce autism spectrum disorder risk. Biochem Biophys Res Commun;2022 (May 14);614:183-190.

Maternal insults during pregnancy induces an increased risk of autism spectrum disorders (ASD) in offspring, but the neuropathological changes in this process remains not to be established. To shed light on this, the transcriptome datasets of maternal blood samples with children later diagnosed with ASD and typical development, and tissue samples of multiple brain regions from ASD patients and human neurodevelopment were conducted to identify the non-chasm differentially expressed genes (DEGs) to generate the spatio-temporal dynamic change. Combined enrichment and interaction network analysis revealed that non-chasm DEGs with similar expression trajectories in the same brain regions, were involved in neural, immune and metabolic GO functions and KEGG pathways, respectively, suggesting that did not performed exactly the same functions. Interestingly, our results found that non-chasm DEGs in frontal cortex and temporal cortex were associated with COVID-19, suggesting that as an environmental risk factor COVID-19 affects an increased risk of ASD.

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4. Gowda VK, Srinivasan VM. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder. Indian J Pediatr;2022 (May 23)

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5. Jurin A, Šimleša S, Cepanec M. Parental perception of the process of communicating a diagnosis of autism spectrum disorder in the Republic of Croatia. Clin Child Psychol Psychiatry;2022 (May 23):13591045221105191.

The process of communicating a diagnosis of an autism spectrum disorder (ASD) stands out as the first important factor when confronting parents with such a diagnosis for their child. The situation in which a child is diagnosed with ASD is viewed as certainly one of the most stressful moments for parents. Previous research has indicated several factors that affect the positivity of parents’ experiences. Therefore, the aim of the current study was to examine the experiences of parents in the Republic of Croatia concerning the process of communicating a diagnosis of ASD to them and to show the satisfaction level of parents with the characteristics of this procedure. The study involved 52 parents of children who were either suspected of having or diagnosed with ASD. For the purposes of the research, a questionnaire was constructed. The results showed a relatively high degree of parental satisfaction with the process of communicating a diagnosis of ASD. A significant correlation was found between parental satisfaction and the presence of positive characteristics in both the diagnostic process and communicating the diagnosis. However, the results also indicated that there is much room for improvement regarding the conditions and manner of expressing this unwanted news.

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6. Khalifa N, Hawken ER, Bickle A, Cabrera M, Heath T, Drury A, Jones J, Ayub M. The use of transcranial direct current stimulation (tDCS) to reduce impulsivity and aggression in adults with mild intellectual developmental disabilities: the tDCS-RIADD randomised controlled trial protocol. Trials;2022 (May 23);23(1):431.

BACKGROUND: Challenging behaviours, in particular aggressive behaviours, are prevalent among people with intellectual developmental disabilities. Predictors of challenging behaviours are numerous, including past history of aggression, poor coping skills and impulsivity. Factors like motor or rapid-response impulsivity (RRI) have neurobiological underpinnings that may be amenable to change via neuromodulation using non-invasive brain stimulation techniques like transcranial direct current stimulation (tDCS). METHODS: This study aims to determine the efficacy of anodal tDCS in reducing RRI and incidents of aggression in people with intellectual developmental disabilities (IDD) in residential or hospital settings. Using a single blind, randomised, sham-controlled trial design, adults with IDD, with a history of impulsivity leading to aggression, will be randomised to receive either repetitive anodal or sham tDCS applied to the left dorsolateral prefrontal cortex. Outcome measures assessing impulsivity and aggression will be collected for up to 1 month following the last tDCS session. DISCUSSION: The results of this study may pave the way for developing targeted interventions for impulsivity and aggressive behaviours in people with IDD.

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7. Kushima M, Yamagata Z. Screen Timing May Be More Likely Than Screen Time to Be Associated With the Risk of Autism Spectrum Disorder-Reply. JAMA Pediatr;2022 (May 23)

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8. Lin YH, Lin SH, Gau SS. Screen Timing May Be More Likely Than Screen Time to Be Associated With the Risk of Autism Spectrum Disorder. JAMA Pediatr;2022 (May 23)

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9. Talesh Jafadideh A, Mohammadzadeh Asl B. Rest-fMRI based comparison study between autism spectrum disorder and typically control using graph frequency bands. Comput Biol Med;2022 (May 17);146:105643.

Graph signal processing (GSP) is a subset of signal processing, allowing for the analysis of functional magnetic resonance imaging (fMRI) data in the topological domain of the brain. One of the most important and popular tools of GSP is graph Fourier transform (GFT), which can analyze the brain signals in different graph frequency bands. This paper has analyzed the resting-state fMRI (rfMRI) data of two sites using the GFT tool to discover new knowledge about autism spectrum disorder (ASD) and find features discriminating between ASD subjects and typical controls (TCs). The results were reported for both structural and functional atlases with different numbers of regions of interest (ROIs). For the ASD group, the signal energy concentrations in low and somewhat high-frequency bands declined by increasing age in most well-known brain networks. The changes of signal energy levels in different graph frequency bands were less for ASD subjects in comparison to TC ones. This result seems to reflect the difficulty in dynamic switching, which in turn leads to lower behavioral flexibility in the ASD group. In the low graph frequency band, the segregation of brain ROIs and brain networks increased with the age of ASD subjects. For TCs, growing up led to the integration of brain ROIs and segregation of brain networks in low and high-frequency bands, respectively. In the low-frequency band, the growing process was accompanied by lower activation and higher isolation of ASD brain networks. In addition, the segregation of salient-ventral attention network and dorsal attention network of ASD subjects grew with age. The structural atlas results indicated the reduced segregation of ASD subjects’ default mode network in the high graph frequency band. The cross-frequency functional connectivity analysis showed that high-frequency signals of the right precentral gyrus and right precuneus posterior cingulate cortex had connections with almost all the low-frequency ROIs so that all connections were dramatically different between ASD and TC. The results of different scenarios at different graph frequency bands demonstrate that the combinatorial usage of functional and structural data through GSP can open a new avenue to investigate ASD.

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10. Zhao M, Havrilla J, Peng J, Drye M, Fecher M, Guthrie W, Tunc B, Schultz R, Wang K, Zhou Y. Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records. J Neurodev Disord;2022 (May 23);14(1):32.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges remain in diagnosing and subtyping ASD due in part to the lack of a validated, standardized vocabulary to characterize clinical phenotypic presentation of ASD. Although the human phenotype ontology (HPO) plays an important role in delineating nuanced phenotypes for rare genetic diseases, it is inadequate to capture characteristic of behavioral and psychiatric phenotypes for individuals with ASD. There is a clear need, therefore, for a well-established phenotype terminology set that can assist in characterization of ASD phenotypes from patients’ clinical narratives. METHODS: To address this challenge, we used natural language processing (NLP) techniques to identify and curate ASD phenotypic terms from high-quality unstructured clinical notes in the electronic health record (EHR) on 8499 individuals with ASD, 8177 individuals with non-ASD psychiatric disorders, and 8482 individuals without a documented psychiatric disorder. We further performed dimensional reduction clustering analysis to subgroup individuals with ASD, using nonnegative matrix factorization method. RESULTS: Through a note-processing pipeline that includes several steps of state-of-the-art NLP approaches, we identified 3336 ASD terms linking to 1943 unique medical concepts, which represents among the largest ASD terminology set to date. The extracted ASD terms were further organized in a formal ontology structure similar to the HPO. Clustering analysis showed that these terms could be used in a diagnostic pipeline to differentiate individuals with ASD from individuals with other psychiatric disorders. CONCLUSION: Our ASD phenotype ontology can assist clinicians and researchers in characterizing individuals with ASD, facilitating automated diagnosis, and subtyping individuals with ASD to facilitate personalized therapeutic decision-making.

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11. Zheng X, Liu L, Wang Y, Wang H, Du Y, Gao L, Zhang Y, Mei S. [Clinical and genetic analysis of two rare male patients with Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (May 10);39(5):488-493.

OBJECTIVE: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. METHODS: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1’s mother to detect the allelic expression difference of the MECP2 gene. RESULTS: Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION: Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.

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