1. Trofinetide (Daybue) for Rett syndrome. Med Lett Drugs Ther. 2024; 66(1706): e115-e6.

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2. Abedini SS, Akhavantabasi S, Liang Y, Heng J, Alizadehsani R, Dehzangi I, Bauer DC, Alinejad-Rokny H. A Critical Review of the Impact of Candidate Copy Number Variants on Autism Spectrum Disorder. Mutat Res Rev Mutat Res. 2024: 108509.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder (NDD) influenced by genetic, epigenetic, and environmental factors. Recent advancements in genomic analysis have shed light on numerous genes associated with ASD, highlighting the significant role of both common and rare genetic mutations, as well as copy number variations (CNVs), single nucleotide polymorphisms (SNPs) and unique de novo variants. These genetic variations disrupt neurodevelopmental pathways, contributing to the disorder’s complexity. Notably, CNVs are present in 10%-20% of individuals with autism, with 3%-7% detectable through cytogenetic methods. While the role of submicroscopic CNVs in ASD has been recently studied, their association with genomic loci and genes has not been thoroughly explored. In this review, we focus on 47 CNV regions linked to ASD, encompassing 1,632 genes, including protein-coding genes and long non-coding RNAs (lncRNAs), of which 659 show significant brain expression. Using a list of ASD-associated genes from SFARI, we detect 17 regions harboring at least one known ASD-related protein-coding gene. Of the remaining 30 regions, we identify 24 regions containing at least one protein-coding gene with brain-enriched expression and a nervous system phenotype in mouse mutants, and one lncRNA with both brain-enriched expression and upregulation in iPSC to neuron differentiation. This review not only expands our understanding of the genetic diversity associated with ASD but also underscores the potential of lncRNAs in contributing to its etiology. Additionally, the discovered CNVs will be a valuable resource for future diagnostic, therapeutic, and research endeavors aimed at prioritizing genetic variations in ASD.

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3. Alsayouf HA. Growing evidence of pharmacotherapy effectiveness in managing attention-deficit/hyperactivity disorder in young children with or without autism spectrum disorder: a minireview. Front Psychiatry. 2024; 15: 1408876.

Many children with autism spectrum disorder (ASD) also have attention-deficit/hyperactivity disorder (ADHD). ADHD in children is associated with increased risk of negative outcomes, and early intervention is critical. Current guidelines recommend psychosocial interventions such as behavioral training as the first line of therapy in managing ADHD symptoms in children with or without ASD. Where symptoms are refractory to these interventions, medications such as stimulants, α2-adrenergic agonist inhibitors, selective norepinephrine reuptake inhibitors, and second-generation antipsychotics are recommended. However, these pharmacotherapies do not have regulatory approval for use in children of preschool age, and evidence on their safety and efficacy in this population has historically been very limited. Since publication of the current guidelines in 2020, several new randomized controlled trials and real-world studies have been published that have investigated the efficacy and tolerability of these medications in preschool children with ADHD, with or without comorbid ASD. Here, we provide a review of the key findings of these studies, which suggest that there is growing evidence to support the use of pharmacological interventions in the management of ADHD in preschool children with comorbid ASD.

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4. Battanta NK, Jenni OG, Schaefer C, von Rhein M. Autism spectrum: parents’ perspectives reflecting the different needs of different families. BMC Pediatr. 2024; 24(1): 439.

BACKGROUND: Parents of children on the autism spectrum often face great challenges in the care of their child. Early support tailored to families’ individual needs is therefore crucial for the development and quality of life of both children on the autism spectrum and their families. However, to date it is unclear whether the support available meets the parents’ needs. STUDY AIM: To investigate how the system of care, support, and therapies for children on the autism spectrum is perceived by their parents. METHOD: A total of 57 parents of Swiss children on the autism spectrum participated in an online survey, and 20 of them participated in additional semi-structured interviews. RESULTS: We found that parents of children on the autism spectrum may face substantial challenges and that social support is essential. Two thirds of the participating parents reported a long and difficult diagnostic process as challenging, and 60% expressed their need for closer follow-up after diagnosis and more support. Only one third of the parents stated that they manage their everyday lives well, whereas 17.5% felt exhausted, and more than half of the parents responded that they felt challenged. One fifth indicated that they had poor family support, and half reported substantial financial challenges. At the same time, most families also emphasize how important their neurodivergent children are to the family`s life together. CONCLUSION: It is important that primary pediatricians not only initiate the diagnostic process, but also assess the different needs of the different family independent of the diagnosis and, if necessary, initiate adequate measures or guide parents to institutions in charge. Parents who do not actively express their individual needs should nevertheless be advised about support services, including financial counseling. The positive aspects mentioned by families can be emphasized and used as resources to improve their quality of life.

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5. De Giacomo A, Craig F, Medicamento S, Gradia F, Sardella D, Costabile A, Matera E, Turi M. Identifying Autistic-Like Symptoms in Children with ADHD: A Comparative Study Using ADOS-2. Neuropsychiatr Dis Treat. 2024; 20: 1367-76.

PURPOSE: Recent literature has focused attention on the presence of autistic-like symptoms in children with Attention Deficit/Hyperactivity Disorder (ADHD), who often exhibit social difficulties, posing challenges for a distinct clinical diagnosis. The current study aimed to identify the specific pattern of autistic symptoms in subjects with ADHD or Autistic Spectrum Disorder (ASD), examining similarities or differences at both the domain and individual item levels. PATIENTS AND METHODS: In this study, we enrolled 43 school-age children divided into the following: the ADHD group (n=25) consisted of children initially referred for ASD symptoms but subsequently clinically diagnosed with ADHD, and the ASD group consisted of 18 children with ASD. We used the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), to examine relative differences in the presence of symptoms such as deficits in communication and social interaction, and restricted and repetitive behaviors in these two groups. Comparison between groups was conducted to explore differences in IQ, age, ADOS-2 domains, and externalizing and internalizing problems among the groups. RESULTS: We found significant differences between the groups when comparing summary scores of ADOS-2 domains (Social Affect, Restricted and Repetitive Behavior, and Total Score). Interestingly, at the individual item level, the ADHD group exhibited a similar level of atypical behaviors compared to the ASD group in two items related to the social-communication area: « Pointing » and « Gestures ». Additionally, the frequencies of « Stereotyped/idiosyncratic words or phrases », « Mannerisms », and « Repetitive interests and behaviors » also showed similarities between groups. CONCLUSION: These findings indicate the importance of exploring and developing potential transdiagnostic domains that could be targeted for treatments specifically designed for children with ADHD.

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6. Deng J, Labarta-Bajo L, Brandebura AN, Kahn SB, Pinto AFM, Diedrich JK, Allen NJ. Suppression of astrocyte BMP signaling improves fragile X syndrome molecular signatures and functional deficits. bioRxiv. 2024.

Fragile X syndrome (FXS) is a monogenic neurodevelopmental disorder with manifestations spanning molecular, neuroanatomical, and behavioral changes. Astrocytes contribute to FXS pathogenesis and show hundreds of dysregulated genes and proteins; targeting upstream pathways mediating astrocyte changes in FXS could therefore be a point of intervention. To address this, we focused on the bone morphogenetic protein (BMP) pathway, which is upregulated in FXS astrocytes. We generated a conditional KO (cKO) of Smad4 in astrocytes to suppress BMP signaling, and found this lessens audiogenic seizure severity in FXS mice. To ask how this occurs on a molecular level, we performed in vivo transcriptomic and proteomic profiling of cortical astrocytes, finding upregulation of metabolic pathways, and downregulation of secretory machinery and secreted proteins in FXS astrocytes, with these alterations no longer present when BMP signaling is suppressed. Functionally, astrocyte Smad4 cKO restores deficits in inhibitory synapses present in FXS auditory cortex. Thus, astrocytes contribute to FXS molecular and functional phenotypes, and targeting astrocytes can mitigate FXS symptoms.

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7. Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Commun Biol. 2024; 7(1): 831.

Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We report eleven individuals from seven families harboring predicted pathogenic biallelic, de novo, and heterozygous variants in the NAV3 gene, which encodes the microtubule positive tip protein neuron navigator 3 (NAV3). All affected individuals have intellectual disability (ID), microcephaly, skeletal deformities, ocular anomalies, and behavioral issues. In mouse brain, Nav3 is expressed throughout the nervous system, with more prominent signatures in postmitotic, excitatory, inhibiting, and sensory neurons. When overexpressed in HEK293T and COS7 cells, pathogenic variants impaired NAV3 ability to stabilize microtubules. Further, knocking-down nav3 in zebrafish led to severe morphological defects, microcephaly, impaired neuronal growth, and behavioral impairment, which were rescued with co-injection of WT NAV3 mRNA and not by transcripts encoding the pathogenic variants. Our findings establish the role of NAV3 in neurodevelopmental disorders, and reveal its involvement in neuronal morphogenesis, and neuromuscular responses.

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8. Girolamo T, Ghali S, Larson C. Sentence Production and Sentence Repetition in Autistic Adolescents and Young Adults: Linguistic Sensitivity to Finiteness Marking. J Speech Lang Hear Res. 2024; 67(7): 2297-315.

PURPOSE: Despite the clinical utility of sentence production and sentence repetition to identify language impairment in autism, little is known about the extent to which these tasks are sensitive to potential language variation. One promising method is strategic scoring, which has good clinical utility for identifying language impairment in nonautistic school-age children across variants of English. This report applies strategic scoring to analyze sentence repetition and sentence production in autistic adolescents and adults. METHOD: Thirty-one diverse autistic adolescents and adults with language impairment (ALI; n = 15) and without language impairment (ASD; n = 16) completed the Formulated Sentences and Recalling Sentences subtests of the Clinical Evaluation of Language Fundamentals-Fifth Edition. Descriptive analyses and regression evaluated effects of scoring condition, group, and scoring condition by group on outcomes, as well as group differences in finiteness marking across utterances and morphosyntactic structures. RESULTS: Strategic and unmodified item-level scores were essentially constant on both subtests and significantly lower in the ALI than the ASD group. Only group predicted item-level scores. Group differences were limited to: percent grammatical utterances on Formulated Sentences and percent production of overt structures combined on Sentence Repetition (ALI < ASD). DISCUSSION: Findings support the feasibility of strategic scoring for sentence production and sentence repetition to identify language impairment and indicate that potential language variation in finiteness marking did not confound outcomes in this sample. To better understand the clinical utility of strategic scoring, replication with a larger sample varying in age and comparisons with dialect-sensitive measures are needed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25822336.

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9. Jyonouchi H. Autism spectrum disorder and a possible role of anti-inflammatory treatments: experience in the pediatric allergy/immunology clinic. Front Psychiatry. 2024; 15: 1333717.

Autism spectrum disorder (ASD(1)) is a behaviorally defined syndrome encompassing a markedly heterogeneous patient population. Many ASD subjects fail to respond to the 1(st) line behavioral and pharmacological interventions, leaving parents to seek out other treatment options. Evidence supports that neuroinflammation plays a role in ASD pathogenesis. However, the underlying mechanisms likely vary for each ASD patient, influenced by genetic, epigenetic, and environmental factors. Although anti-inflammatory treatment measures, mainly based on metabolic changes and oxidative stress, have provided promising results in some ASD subjects, the use of such measures requires the careful selection of ASD subjects based on clinical and laboratory findings. Recent progress in neuroscience and molecular immunology has made it possible to allow re-purposing of currently available anti-inflammatory medications, used for autoimmune and other chronic inflammatory conditions, as treatment options for ASD subjects. On the other hand, emerging anti-inflammatory medications, including biologic and gate-keeper blockers, exert powerful anti-inflammatory effects on specific mediators or signaling pathways. It will require both a keen understanding of the mechanisms of action of such agents and the careful selection of ASD patients suitable for each treatment. This review will attempt to summarize the use of anti-inflammatory agents already used in targeting ASD patients, and then emerging anti-inflammatory measures applicable for ASD subjects based on scientific rationale and clinical trial data, if available. In our experience, some ASD patients were treated under diagnoses of autoimmune/autoinflammatory conditions and/or post-infectious neuroinflammation. However, there are little clinical trial data specifically for ASD subjects. Therefore, these emerging immunomodulating agents for potential use for ASD subjects will be discussed based on preclinical data, case reports, or data generated in patients with other medical conditions. This review will hopefully highlight the expanding scope of immunomodulating agents for treating neuroinflammation in ASD subjects.

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10. Klusek J, Will E, Christensen T, Caravella K, Hogan A, Sun J, Smith J, Fairchild AJ, Roberts JE. Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation. J Speech Lang Hear Res. 2024; 67(7): 2316-32.

PURPOSE: The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines for screening and intervention. Given that social communication difficulties have been widely documented in adults with the FXpm and are linked with reduced psychosocial functioning, the present study aimed to characterize the communication profile of the FXpm during early childhood. METHOD: Eighteen children with the FXpm who were identified through cascade testing (89%) or screening at birth (11%) were compared to 21 matched typically developing children, aged 2-4 years. Participants completed standardized assessments of language (Mullen Scales of Early Learning) and adaptive communication (Vineland Adaptive Behavior Scales-II). Social communication was rated from seminaturalistic interaction samples using the Brief Observation of Social Communication Change. RESULTS: Children with the FXpm showed delayed social communication development, with the magnitude of group differences highlighting social communication as a feature that distinguishes children with the FXpm from their peers (p = .046, η(p)(2) = .12). The groups did not differ on the standardized language and adaptive communication measures (ps > .297, η(p)(2)s < .03). CONCLUSIONS: Early screening and treatment of social communication delays may be key to optimizing outcomes for children with the FXpm. Further research is needed to replicate findings in a larger sample, delineate the trajectory and consequences of social communication difficulties across the life span in the FXpm, and determine the potential epidemiological significance of FMR1 as a mediator of developmental communication differences within the general population.

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11. La Valle C, Shen L, Shih W, Kasari C, Shire S, Lord C, Tager-Flusberg H. Does Gestural Communication Influence Later Spoken Language Ability in Minimally Verbal Autistic Children?. J Speech Lang Hear Res. 2024; 67(7): 2283-96.

PURPOSE: The current study examined the predictive role of gestures and gesture-speech combinations on later spoken language outcomes in minimally verbal (MV) autistic children enrolled in a blended naturalistic developmental/behavioral intervention (Joint Attention, Symbolic Play, Engagement, and Regulation [JASPER] + Enhanced Milieu Teaching [EMT]). METHOD: Participants were 50 MV autistic children (40 boys), ages 54-105 months (M = 75.54, SD = 16.45). MV was defined as producing fewer than 20 spontaneous, unique, and socially communicative words. Autism symptom severity (Autism Diagnostic Observation Schedule-Second Edition) and nonverbal cognitive skills (Leiter-R Brief IQ) were assessed at entry. A natural language sample (NLS), a 20-min examiner-child interaction with specified toys, was collected at entry (Week 1) and exit (Week 18) from JASPER + EMT intervention. The NLS was coded for gestures (deictic, conventional, and representational) and gesture-speech combinations (reinforcing, disambiguating, supplementary, other) at entry and spoken language outcomes: speech quantity (rate of speech utterances) and speech quality (number of different words [NDW] and mean length of utterance in words [MLUw]) at exit using European Distributed Corpora Project Linguistic Annotator and Systematic Analysis of Language Transcripts. RESULTS: Controlling for nonverbal IQ and autism symptom severity at entry, rate of gesture-speech combinations (but not gestures alone) at entry was a significant predictor of rate of speech utterances and MLUw at exit. The rate of supplementary gesture-speech combinations, in particular, significantly predicted rate of speech utterances and NDW at exit. CONCLUSION: These findings highlight the critical importance of gestural communication, particularly gesture-speech (supplementary) combinations in supporting spoken language development in MV autistic children.

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12. Liu C, Guo Z, Pang J, Zhang Y, Yang Z, Cao J, Zhang T. Administration of Atosiban, an oxytocin receptor antagonist, ameliorates autistic-like behaviors in a female rat model of valproic acid-induced autism. Behav Brain Res. 2024; 469: 115052.

Autism spectrum disorder (ASD) is a pervasive developmental disorder with gender differences. Oxytocin (OXT) is currently an important candidate drug for autism, but the lack of data on female autism is a big issue. It has been reported that the effect of OXT is likely to be different between male and female ASD patients. In the study, we specifically explored the role of the OXT signaling pathway in a VPA-induced female rat’s model of autism. The data showed that there was an increase of either oxytocin or its receptor expressions in both the hippocampus and the prefrontal cortex of VPA-induced female offspring. To determine if the excess of OXT signaling contributed to autism symptoms in female rats, exogenous oxytocin and oxytocin receptor antagonists Atosiban were used in the experiment. It was found that exogenous oxytocin triggered autism-like behaviors in wild-type female rats by intranasal administration. More interestingly, several autism-like deficits including social interaction, anxiety, and repeat stereotypical sexual behavior in the VPA female offspring were significantly attenuated by oxytocin receptor antagonists Atosiban. Moreover, Atosiban also effectively improved the synaptic plasticity impairment induced by VPA in female offspring. Our results suggest that oxytocin receptor antagonists significantly improve autistic-like behaviors in a female rat model of valproic acid-induced autism.

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13. Rahman MM, Muniyandi RC, Sahran S, Usman OL, Moniruzzaman M. Restoring private autism dataset from sanitized database using an optimized key produced from enhanced combined PSO-GWO framework. Sci Rep. 2024; 14(1): 15763.

The timely identification of autism spectrum disorder (ASD) in children is imperative to prevent potential challenges as they grow. When sharing data related to autism for an accurate diagnosis, safeguarding its security and privacy is a paramount concern to fend off unauthorized access, modification, or theft during transmission. Researchers have devised diverse security and privacy models or frameworks, most of which often leverage proprietary algorithms or adapt existing ones to address data leakage. However, conventional anonymization methods, although effective in the sanitization process, proved inadequate for the restoration process. Furthermore, despite numerous scholarly contributions aimed at refining the restoration process, the accuracy of restoration remains notably deficient. Based on the problems identified above, this paper presents a novel approach to data restoration for sanitized sensitive autism datasets with improved performance. In the prior study, we constructed an optimal key for the sanitization process utilizing the proposed Enhanced Combined PSO-GWO framework. This key was implemented to conceal sensitive autism data in the database, thus avoiding information leakage. In this research, the same key was employed during the data restoration process to enhance the accuracy of the original data recovery. Therefore, the study enhanced the restoration process for ASD data’s security and privacy by utilizing an optimal key produced via the Enhanced Combined PSO-GWO framework. When compared to existing meta-heuristic algorithms, the simulation results from the autism data restoration experiments demonstrated highly competitive accuracies with 99.90%, 99.60%, 99.50%, 99.25%, and 99.70%, respectively. Among the four types of datasets used, this method outperforms other existing methods on the 30-month autism children dataset, mostly.

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14. Su Q, Wong OWH, Lu W, Wan Y, Zhang L, Xu W, Li MKT, Liu C, Cheung CP, Ching JYL, Cheong PK, Leung TF, Chan S, Leung P, Chan FKL, Ng SC. Multikingdom and functional gut microbiota markers for autism spectrum disorder. Nat Microbiol. 2024.

Associations between the gut microbiome and autism spectrum disorder (ASD) have been investigated although most studies have focused on the bacterial component of the microbiome. Whether gut archaea, fungi and viruses, or function of the gut microbiome, is altered in ASD is unclear. Here we performed metagenomic sequencing on faecal samples from 1,627 children (aged 1-13 years, 24.4% female) with or without ASD, with extensive phenotype data. Integrated analyses revealed that 14 archaea, 51 bacteria, 7 fungi, 18 viruses, 27 microbial genes and 12 metabolic pathways were altered in children with ASD. Machine learning using single-kingdom panels showed area under the curve (AUC) of 0.68 to 0.87 in differentiating children with ASD from those that are neurotypical. A panel of 31 multikingdom and functional markers showed a superior diagnostic accuracy with an AUC of 0.91, with comparable performance for males and females. Accuracy of the model was predominantly driven by the biosynthesis pathways of ubiquinol-7 or thiamine diphosphate, which were less abundant in children with ASD. Collectively, our findings highlight the potential application of multikingdom and functional gut microbiota markers as non-invasive diagnostic tools in ASD.

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15. Vinci M, Treccarichi S, Galati Rando R, Musumeci A, Todaro V, Federico C, Saccone S, Elia M, Calì F. A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability. Sci Rep. 2024; 14(1): 15848.

E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). In the current study, a de novo heterozygous mutation was identified in the splicing intronic region adjacent to the last exon of the ARIH2 gene using whole exome sequencing (WES). We hypothesize that this mutation, found in an ASD/ID patient, disrupts the protein Ariadne domain which is involved in the autoinhibition of ARIH2 enzyme. Predictive analyses elucidated the implications of the novel mutation in the splicing process and confirmed its autosomal dominant inheritance model. Nevertheless, we cannot exclude the possibility that other genetic factors, undetectable by WES, such as mutations in non-coding regions and polygenic risk in inter-allelic complementation, may contribute to the patient’s phenotype. This work aims to suggest potential relationship between the detected mutation in ARIH2 gene and both ASD and ID, even though functional studies combined with new sequencing approaches will be necessary to validate this hypothesis.

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16. Wan Y, Su Q, Ng SC. New insights on gut microbiome and autism. Trends Mol Med. 2024.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that often coincides with gut dysbiosis. Studies show that alterations in gut microbiota influence brain function and could serve as diagnostic biomarkers and therapeutic targets. This forum article discusses the role of gut microbiota in ASD pathogenesis and its diagnostic and therapeutic potential.

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17. Xu S, Zhang H, Fan J, Jiang X, Zhang M, Guan J, Ding H, Zhang Y. Auditory Challenges and Listening Effort in School-Age Children With Autism: Insights From Pupillary Dynamics During Speech-in-Noise Perception. J Speech Lang Hear Res. 2024; 67(7): 2410-53.

PURPOSE: This study aimed to investigate challenges in speech-in-noise (SiN) processing faced by school-age children with autism spectrum conditions (ASCs) and their impact on listening effort. METHOD: Participants, including 23 Mandarin-speaking children with ASCs and 19 age-matched neurotypical (NT) peers, underwent sentence recognition tests in both quiet and noisy conditions, with a speech-shaped steady-state noise masker presented at 0-dB signal-to-noise ratio in the noisy condition. Recognition accuracy rates and task-evoked pupil responses were compared to assess behavioral performance and listening effort during auditory tasks. RESULTS: No main effect of group was found on accuracy rates. Instead, significant effects emerged for autistic trait scores, listening conditions, and their interaction, indicating that higher trait scores were associated with poorer performance in noise. Pupillometric data revealed significantly larger and earlier peak dilations, along with more varied pupillary dynamics in the ASC group relative to the NT group, especially under noisy conditions. Importantly, the ASC group’s peak dilation in quiet mirrored that of the NT group in noise. However, the ASC group consistently exhibited reduced mean dilations than the NT group. CONCLUSIONS: Pupillary responses suggest a different resource allocation pattern in ASCs: An initial sharper and larger dilation may signal an intense, narrowed resource allocation, likely linked to heightened arousal, engagement, and cognitive load, whereas a subsequent faster tail-off may indicate a greater decrease in resource availability and engagement, or a quicker release of arousal and cognitive load. The presence of noise further accentuates this pattern. This highlights the unique SiN processing challenges children with ASCs may face, underscoring the importance of a nuanced, individual-centric approach for interventions and support.

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18. Yang C, Xiao H, Zhu H, Du Y, Wang L. Revealing the gut microbiome mystery: A meta-analysis revealing differences between individuals with autism spectrum disorder and neurotypical children. Biosci Trends. 2024; 18(3): 233-49.

The brain-gut axis intricately links gut microbiota (GM) dysbiosis to the development or worsening of autism spectrum disorder (ASD). However, the precise GM composition in ASD and the effectiveness of probiotics are unclear. To address this, we performed a thorough meta-analysis of 28 studies spanning PubMed, PsycINFO, Web of Science, Scopus, and MEDLINE, involving 1,256 children with ASD and 1042 neurotypical children, up to February 2024. Using Revman 5.3, we analyzed the relative abundance of 8 phyla and 64 genera. While individuals with ASD did not exhibit significant differences in included phyla, they exhibited elevated levels of Parabacteroides, Anaerostipes, Faecalibacterium, Clostridium, Dorea, Phascolarctobacterium, Lachnoclostridium, Catenibacterium, and Collinsella along with reduced percentages of Barnesiella, Odoribacter, Paraprevotella, Blautia, Turicibacter, Lachnospira, Pseudomonas, Parasutterella, Haemophilus, and Bifidobacterium. Notably, discrepancies in Faecalibacterium, Clostridium, Dorea, Phascolarctobacterium, Catenibacterium, Odoribacter, and Bifidobacterium persisted even upon systematic exclusion of individual studies. Consequently, the GM of individuals with ASD demonstrates an imbalance, with potential increases or decreases in both beneficial and harmful bacteria. Therefore, personalized probiotic interventions tailored to ASD specifics are imperative, rather than a one-size-fits-all approach.

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19. You W, Choi A, Lee H, Han JY, Lee JH, Shin JY. Adverse Pregnancy and Child Outcomes in Oral Retinoid-Exposed Pregnancies: A Nationwide Population-Based Study. J Korean Med Sci. 2024; 39(26): e201.

BACKGROUND: Oral retinoids are used to treat various dermatological conditions, and their use is increasing in women of childbearing age. However, there is limited knowledge on the incidence of adverse outcomes after retinoid exposure during pregnancy. We aimed to evaluate the risk of adverse outcomes associated with oral retinoid exposure during pregnancy. METHODS: We conducted a retrospective cohort study using the NHIS mother-child linked healthcare database in South Korea. We included all women who gave live birth from April 1, 2009 to December 31, 2020 and their children. The exposure was defined as having ≥ 1 prescription of isotretinoin, alitretinoin, and acitretin from one month before pregnancy to the delivery. The outcomes of interest were adverse child outcomes including major congenital malformations, low birth weight, and neurodevelopmental disorders (autism spectrum disorder and intellectual disorder), and adverse pregnancy outcomes including gestational diabetes mellitus, preeclampsia, and postpartum hemorrhage. Propensity score-based matching weights were used to control for various potential confounders. For congenital malformation, low birth weight, and adverse pregnancy outcomes, we calculated relative risk (RR) with 95% confidence interval (CI) using a generalized linear model and for neurodevelopmental disorders, we estimated hazard ratio (HR) with 95% CI using the Cox proportional hazard model. RESULTS: Of 3,894,184 pregnancies, we identified 720 pregnancies (0.02%) as the oral retinoid-exposed group. The incidence of major congenital malformation was 400.6 per 10,000 births for oral retinoid-exposed group and 357.9 per 10,000 births for unexposed group and the weighted RR was 1.10 (95% CI, 0.65-1.85) in oral retinoid-exposed group compared with unexposed group. The neurodevelopmental disorder showed a potential increased risk, with the weighted HR of 1.63 (95% CI, 0.60-4.41) for autism spectrum disorder and 1.71 (95% CI, 0.60-4.93) for the intellectual disorder, although it did not reach statistical significance. For low birth weight and adverse pregnancy outcomes, no association was observed with oral retinoid exposure during pregnancy. CONCLUSION: This study found no significantly increased risk of congenital malformations, autism spectrum disorders, and intellectual disability associated with oral retinoid exposure during pregnancy; however, given the limitations such as including only the live births and increased point estimate, potential risk cannot be fully excluded.

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