1. Almalki AH, Bamaga AK, Alharbi A, Abduljabbar MH, Alnemari RM, Baali FH, Algarni MA, Ahmed MF, Ramzy S. Exploring the association between serum magnesium level and autism spectrum disorder using validated spectrofluorimetric method. Anal Biochem. 2024; 699: 115755.

Magnesium is an essential mineral in biological systems and has a significant impact on brain health. Its deficiency has been found to correlate with irregular metabolic processes and neurodevelopmental disorders. The objective of this research was to establish and validate an analytical approach based on the standard addition methodology for determining endogenous magnesium levels in the serum of autistic and healthy children. Analytically, the approach involved functionalizing fluorescent graphene quantum dots with a magnesium-phosphomolybdic acid ion pair complex, followed by measuring magnesium-induced fluorescence quenching on the functionalized graphene quantum dots, which is concentration-dependent. The approach was validated in accordance with the ICH M10 requirements for bioanalytical technique validation, and it reliably quantified magnesium concentrations in the serum of both autistic and healthy children. The study found that autistic children have considerably lower serum magnesium concentrations than healthy children (P < 0.01), indicating a correlation between magnesium deficiency and autism spectrum disorder. The average serum magnesium levels (mg/dl) recorded for the autistic and healthy groups were 2.03 ± 0.33 and 2.28 ± 0.26, respectively.

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2. Andrade C. Maternal Cannabis Use in Pregnancy and Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder in Offspring. J Clin Psychiatry. 2024; 86(1).

Up to 10% of women may use cannabis during pregnancy; this is of concern because constituents of cannabis cross the placental barrier and potentially influence neurodevelopment by acting on cannabinoid receptors in the developing fetal brain. In this context, a recent meta analysis of 13 observational studies found that gestational exposure to cannabis was associated with a small increase in the risk of autism spectrum disorder (ASD; relative risk [RR], 1.30) and with an even smaller increase in the risk of attention deficit/hyperactivity disorder (ADHD; RR, 1.13); the latter finding was probably supported by publication bias. In this meta-analysis, 4 studies provided information on ASD (pooled N = 178,565) and 10 on ADHD (pooled N = 203,783). In a large (n = 222,534) retrospectively ascertained cohort study published after the meta-analysis, cannabis use disorder (CUD) recorded before pregnancy, during pregnancy, and during pregnancy plus the year after delivery were associated with closely similar increased risks of ASD (RRs, 3.02-3.21). The risks were smaller in smokers (RRs, 1.74-1.87) than in nonsmokers (RRs, 4.55-4.83) but differed little between male (RRs, 3.01-3.06) and female (RRs, 2.71-2.85) offspring. Although the cohort study had many strengths, its limitations permitted only the conclusion that peri-pregnancy exposure to CUD is associated with a large increase in the risk of ASD in offspring; it remained possible that much of the risk was driven by genetic, environmental, or behavioral variables. The field is nascent; the total number of cannabis exposed pregnancies (with ASD and ADHD as the outcomes) in world literature is small. However, cannabis use during pregnancy is, at the very least, a clear marker for adverse neurodevelopmental outcomes, besides the adverse maternal, fetal, and neonatal outcomes identified in other studies. Healthcare providers who manage women who use cannabis during pregnancy need to be aware of these adverse outcomes.

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3. Basra M, Miceli L, Mundra V, Stern-Harbutte A, Patel H, Haynes J, Parmar MS. Exploring the neurotoxic effects of microbial metabolites: A potential link between p-Cresol and autism spectrum disorders?. Brain Res. 2024: 149427.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a complex etiology, including genetic and environmental factors. A growing body of evidence (preclinical and clinical studies) implicates a potential role of gut microbiome dysregulation in ASD pathophysiology. This review focuses on the microbial metabolite p-Cresol, produced by certain gut bacteria such as Clostridium, and its potential role in ASD. The review summarizes studies investigating the gut microbiome composition in ASD patients, particularly the increased abundance of Clostridium species and associated gastrointestinal symptoms. The potential neurotoxic effects of p-Cresol are explored, including its influence on neurotransmitter metabolism (especially dopamine), neuroinflammation, and brain development. The mechanistic findings from the preclinical studies of p-Cresol’s induction of ASD-like behaviors and its impact on the dopaminergic system are discussed. Literature studies indicated increased levels of p-Cresol in the urine of patients with ASD. This increasing evidence suggests that p-Cresol may serve as a crucial biomarker for understanding the relationship between gut microbiota and ASD, opening avenues for potential diagnostic and therapeutic interventions.

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4. Campanella S, Volpe T, Safar Y, Lunsky Y. « They need to speak a language everyone can understand »: Accessibility of COVID-19 vaccine information for Canadian adults with intellectual and developmental disabilities. Vaccine. 2024; 45: 126618.

Accessible vaccine information is one vital component of effective vaccination programs, however, there is limited research that explores how people with disabilities engage with public health messaging. This study aimed to understand how adults with intellectual and developmental disabilities (IDD) and their caregivers navigated Canada’s public health communications regarding COVID-19 vaccines. A national survey on the accessibility of vaccine information was conducted in the spring and summer of 2022. Surveys were completed by 208 adults with IDD, 102 family caregivers and friends, and 54 staff. Quantitative data were analyzed descriptively, and descriptive qualitative content analysis was applied to open-ended survey responses. Vaccine information was difficult to understand and was not accessible to many people with IDD and their caregivers. Approximately 75 % of adults with IDD found COVID-19-related information challenging to comprehend, followed by 69 % of family/friends and 56 % of staff. All three groups indicated they felt overwhelmed by the large quantity of information they had to navigate (adults with IDD, 72 %; family/friends, 65 %; staff, 70 %) and experienced difficulties such as finding trustworthy sources and identifying vaccine misinformation and disinformation. Respondents offered recommendations to improve public health messaging and the accessibility of future vaccine campaigns. Our study explored the experiences of Canadian adults with IDD and caregivers while navigating COVID-19 vaccine information, revealing significant barriers. To address these barriers and improve vaccine uptake, public health communications must ensure accessibility throughout every stage of immunization, including education campaigns, appointment booking, vaccination appointment, and aftercare services. Recommendations include using Easy Read language and multiple formats, supporting caregivers and community groups, and enlisting trusted community messengers to disseminate accurate information and build confidence among adults with IDD and their caregivers.

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5. Eser M, Hekimoglu G, Kutlubay B, Sager SG, Turkyilmaz A. Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis. Mol Genet Genomics. 2024; 300(1): 6.

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics’ Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes. Among the 22 cases, mutations were found in 3 (13.6%) for TSC1 and in 16 (73%) for TSC2, while 3 (13.6%) exhibited no detectable mutations. Notably, one individual with a TSC2 mutation presented with angiofibroma, ungual fibroma, and pitted dental enamel, while another had cardiac rhabdomyoma. Autism spectrum disorders were observed in 6 (27%) with TSC2 mutations, including one with autistic behavior. Abnormal motor development was noted in 3 (13.6%), of which 2 had TSC2 mutations. Severe intellectual disability was found in 3 (13.6%) with TSC2 mutations, and developmental delay was seen in 2 (9%) with TSC2 mutations. Epileptic encephalopathy occurred in 3 (13.6%), with 2 having TSC2 mutations. Additionally, 6 (27%) exhibited drug resistance for focal seizures, with 5 of them having TSC2 mutations. These findings are consistent with other research indicating that TSC2 mutations are associated with a more severe phenotypic range compared to TSC1 mutations. Moreover, our analysis showed that some people with TSC1/TSC2 mutations did not match diagnostic criteria. This highlights the importance of genetic testing and molecular profiling in understanding the clinical variability and aiding in the management of TSC patients.

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6. Fahey L, Lopez LM. Shared Genetic Links Between Sleep, Neurodevelopmental and Neuropsychiatric Conditions: A Genome-Wide and Pathway-Based Polygenic Score Analysis. Genes Brain Behav. 2024; 23(6): e70011.

Genetic correlations have been reported between chronotype and both autism (AUT) and schizophrenia (SCZ), as well as between insomnia and attention-deficit/hyperactivity disorder (ADHD), bipolar disorder (BP), schizophrenia (SCZ) and major depression (MDD). Our study aimed to investigate these shared genetic variations using genome-wide and pathway-based polygenic score analyses. We computed polygenic scores using summary statistics from genome-wide association studies (GWAS) of ADHD (N = 225,534), AUT (N = 46,350), BP (N = 353,899), MDD (N = 500,199) and SCZ (N = 160,779). We tested their performance in predicting chronotype (N = 409,630) and insomnia (N = 239,918) status of UK Biobank participants. For pathway-based polygenic scores, we restricted genetic variation to SNPs that mapped to genes within 1377 Reactome pathways. Genome-wide polygenic scores for AUT, BP, MDD and SCZ were associated with an evening chronotype (p < 2.2 × 10(-16), p = 4.8 × 10(-3), p = 8.07 × 10(-4) and p < 2.2 × 10(-16), respectively). Polygenic scores for ADHD, AUT, BP, MDD SCZ were associated with insomnia (p < 2.2 × 10(-16), p = 2.93 × 10(-3), p = 2.9 × 10(-7), p < 2.2 × 10(-16) and p = 8.86 × 10(-3), respectively). While pathway-based polygenic score analysis identified the KEAP1-NRF2 (p = 1.29 × 10(-8)) and mRNA Splicing-Minor Pathways (p = 1.52 × 10(-8)) as enriched for genetic variation overlapping between chronotype and BP, the majority of tested pathways yielded null findings, suggesting that specific shared genetic mechanisms between sleep-related phenotypes and neurodevelopmental/psychiatric conditions (NDPC) may be limited to a subset of pathways. Colocalisation analysis identified BP-associated SNPs in CUL3 and SF3B1 as being linked to changes in their expression. Our results strengthen evidence for shared genetic variation between NDPC and sleep-related phenotypes. We identify the KEAP1-NRF2 and mRNA Splicing-Minor Pathways as potentially mediating the disrupted circadian rhythm phenotype of BP.

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7. Gogate A, Kaur K, Khalil R, Bashtawi M, Morris MA, Goodspeed K, Evans P, Chahrour MH. Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. NPJ Genom Med. 2024; 9(1): 72.

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8. Jung S, Richter JD. Trinucleotide Repeat Expansion and RNA Dysregulation in Fragile X Syndrome: Emerging Therapeutic Approaches. Rna. 2024.

Fragile X Syndrome (FXS) is characterized by intellectual impairment caused by CGG repeat expansion in the FMR1 gene. When repeats exceed 200, they induce DNA methylation of the promoter and the repeat region, resulting in transcriptional silencing of the FMR1 gene and the subsequent loss of FMRP protein. In the past decade or so, research has focused on the role of FMRP as an RNA-binding protein involved in translation inhibition in the brain in FXS model mice, particularly by slowing or stalling ribosome translocation on mRNA. More recent advances have shown that FMRP has a profound role in RNA splicing, at least in some cases by modulating the translation of splicing factor mRNAs. In a surprise, the human FMR1 gene is transcribed in most cases even with a full CGG expansion. However, much of the FMR1 that is produced is mis-spliced, which can be corrected by splice-switching antisense oligonucleotide (ASO) administration. Other recent findings suggest that inhibition of multiple kinases can demethylate the FMR1 gene and induce the formation of an R-loop in the CGG repeat region, leading to contraction of the repeat and FMRP restoration. These insights are paving the way for possible future therapeutic approaches for this disorder. We highlight the importance of FMRP restoration by ASO-mediated splice switching or CGG repeat modulation as key advances that may lead to successful treatments for FXS.

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9. Khan K, Katarya R. MCBERT: A multi-modal framework for the diagnosis of autism spectrum disorder. Biol Psychol. 2024; 194: 108976.

Within the domain of neurodevelopmental disorders, autism spectrum disorder (ASD) emerges as a distinctive neurological condition characterized by multifaceted challenges. The delayed identification of ASD poses a considerable hurdle in effectively managing its impact and mitigating its severity. Addressing these complexities requires a nuanced understanding of data modalities and the underlying patterns. Existing studies have focused on a single data modality for ASD diagnosis. Recently, there has been a significant shift towards multimodal architectures with deep learning strategies due to their ability to handle and incorporate complex data modalities. In this paper, we developed a novel multimodal ASD diagnosis architecture, referred to as Multi-Head CNN with BERT (MCBERT), which integrates bidirectional encoder representations from transformers (BERT) for meta-features and a multi-head convolutional neural network (MCNN) for the brain image modality. The MCNN incorporates two attention mechanisms to capture spatial (SAC) and channel (CAC) features. The outputs of BERT and MCNN are then fused and processed through a classification module to generate the final diagnosis. We employed the ABIDE-I dataset, a multimodal dataset, and conducted a leave-one-site-out classification to assess the model’s effectiveness comprehensively. Experimental simulations demonstrate that the proposed architecture achieves a high accuracy of 93.4 %. Furthermore, the exploration of functional MRI data may provide a deeper understanding of the underlying characteristics of ASD.

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10. Lakatosova S, Repiska G, Valachova A, Raskova B, Belica I, Patrovic L, Ostatnikova D, Konecny M. Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism. Cureus. 2024; 16(11): e74379.

In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced. Neurological signs included atypical leukoencephalopathy, hypotonia, sensorineural hearing loss, and sleep disturbances. The patient underwent genetic testing, including microarray-based copy number variation (CNV) detection, which yielded negative results. However, whole exome sequencing (WES) analysis pointed out a damaging homozygous variant in the EIF3F (Eukaryotic Translation Initiation Factor 3 Subunit F) gene, confirming the diagnosis of intellectual developmental disorder autosomal recessive 67. Segregation analysis in the family revealed that the asymptomatic parents were carriers of the pathogenic variant in EIF3F. Our study contributes to the phenotypic profiling of this rare syndromic neurodevelopmental disorder and points out the irreplaceability of WES analysis in genetic diagnostics of autism and developmental delay. This appeals to the need for WES to be accepted as a routine diagnostic tool in Slovakia.

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11. Lousky Y, Selanikyo E, Tubul-Lavy G, Ben-Itzchak E. Toward workforce integration: enhancements in adaptive behaviors and social communication skills among autistic young adults following vocational training course. Front Psychol. 2024; 15: 1392672.

BACKGROUND: Cognitively able autistic adults demonstrate low rates of employment due to social and vocational challenges. The current study aimed to examine changes in various areas among autistic young adults who participated in the ‘Roim Rachok’ (‘Looking Ahead’ in Hebrew) Training Course (RRTC). The course prepares young autistic adults for integration into military service as vocational soldiers. METHODS: The study included 49 autistic participants who completed the RRTC in one of three vocational fields: Digital (n = 19), Technical (n = 9), and Visual (n = 21). Evaluations at the beginning and end of the course included adaptive behavior (Adaptive Behavior Assessment Scale 2(nd) Edition [ABAS-II]), autism symptom severity (Social Responsiveness Scale 2nd Edition [SRS-II]), and communication skills (Faux Pas; Empathy Quotient [EQ]; Friendship Quality Scale; Conversation task based on Yale in vivo Pragmatic Protocol [YiPP]). RESULTS: The results revealed a significant Time effect for the self-reported ABAS-II conceptual, social, and practical subdomains, EQ empathy quotient subdomain, Faux Pas, and SRS-II social communication interaction scores. Accordingly, participants reported increasing their adaptive skills, emotional empathy, and the ability to detect and interpret awkward statements, and decreased in their social communication interaction symptoms, following the RRTC. No significant Time x Group interaction was found for any of the examined measures, meaning similar trends were observed in all three vocational groups. CONCLUSION: Following the RRTC, participants reported significant improvements in areas essential for their future integration as soldiers in the military and as employees in the vocational world. Implications of the study findings are discussed.

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12. Mahajan P, Patil D, Nair N, Musmade N, Apte P. Mapping the Landscape of Autism Research: A Scientometric Review (2011-2023). Int J Dev Neurosci. 2025; 85(1): e10406.

This scientometric analysis maps the landscape of autism spectrum disorder (ASD) research between 2011 and 2023. By exploring patterns in publication growth, geographic distribution and institutional involvement, this study highlights evolving research themes, key contributors and collaborative networks. Our findings reveal a marked rise in ASD publications, particularly from 2020 onwards, with the United States, United Kingdom and China leading in contributions and collaborations. Scientometric analysis identifies a shift towards advanced machine learning techniques and neuroimaging in ASD studies, reflecting technological integration in research. Institutional analysis uncovers Vanderbilt University and Yale University as major contributors, with significant citation impacts across their publications. Furthermore, prominent funding sources, including the National Institutes of Health, underscore the critical role of funding in shaping research priorities. This comprehensive scientometric overview not only consolidates current knowledge but also serves as a resource to inform future research directions, enhancing interdisciplinary approaches to ASD understanding and intervention.

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13. Minutoli R, Scarcella I, Doria G, Vetrano N, Chilà P, Sireci MJ, Gismondo S, Failla C, Pioggia G, Marino F. Case report: Receptive labeling training in autism: conventional vs. technology-based approaches? a single case study. Front Psychiatry. 2024; 15: 1437293.

BACKGROUND: Receptive language, the ability to comprehend and respond to spoken language, poses significant challenges for individuals with Autism Spectrum Disorder (ASD). To support communication in autistic children, interventions like Lovaas’ simple-conditional method and Green’s conditional-only method are commonly employed. Personalized approaches are essential due to the spectrum nature of autism. Advancements in technology have opened new avenues for personalizing therapeutic interventions. This single case study compares traditional and technology-based learning sets in a receptive labeling teaching program using Green’s method. METHODS: An alternating treatments design assessed the number of sessions required to achieve mastery in receptive identification of stimuli presented on flashcards or tablets. The study involved a six-year-old Italian child with ASD named Pietro. Initial assessment using the Verbal Behavior Milestone Assessment and Placement Program (VB-MAPP) determined Pietro’s strengths and weaknesses. Six stimuli were selected and divided into two sets: traditional and technology-based. Sessions were semi-randomly alternated, and the teaching procedures remained constant across conditions. In the traditional condition, sessions were conducted twice a week, using flashcards. Correct responses received immediate social reinforcement. In the technological condition, the same stimuli were presented on a tablet via PowerPoint slides. RESULTS: Pietro achieved mastery more quickly with flashcard instruction than with tablet instruction. Learning was exponential in the traditional condition and linear in the digital condition. Follow-up assessments three weeks post-treatment showed no differences in the generalization and maintenance of skills between the two modalities. DISCUSSION: The findings indicate that the format of stimulus delivery affects the learning process, with traditional flashcards leading to faster mastery in this case. Individual motivation appears crucial, suggesting that Pietro’s learning history influenced his performance. Personalized approaches remain vital in autism interventions. Further research is needed to determine if these differences extend to other skills or contexts. CONCLUSION: While technology-based interventions offer new opportunities, they are not universally more effective than traditional methods. Careful consideration of individual differences, especially motivational factors, is essential in designing effective autism intervention programs.

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14. Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O’Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. Am J Hum Genet. 2024.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder. E3 ubiquitin ligases are responsible for transferring ubiquitin to substrate proteins to regulate a variety of cellular functions, including protein degradation, protein-protein interactions, and protein localization. Knocking out ubr-5 in C. elegans resulted in a lower movement score compared to the wild type, supporting a role for UBR5 in neurodevelopment. Using an in vitro autoubiquitination assay and confocal microscopy for the human protein, we found decreased ubiquitination activity and altered cellular localization in several variants found in our cohort compared to the wild type. In conclusion, we found that variants in UBR5 cause a neurodevelopmental syndrome that can be associated with a movement disorder, reinforcing the role of the UBR protein family in a neurodevelopmental disease that differs from previously described ubiquitin-ligase-related syndromes. We also provide evidence for the pathogenic potential loss of UBR5 function with functional experiments in C. elegans and in vitro ubiquitination assays.

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15. Santos CLD, Barreto, II, Silva A, Soriano JFB, Castro JLS, Tristão LS, Bernardo WM. Behavioral therapies for the treatment of autism spectrum disorder: A systematic review. Clinics (Sao Paulo). 2024; 80: 100566.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopment spectrum characterized by persistent deficits in social communication and interpersonal interaction, along with restricted and repetitive patterns of behavior, interest, or activities. The appropriate screening and diagnosis must be realized to improve the children’s prognosis. Moreover, appropriate treatments are necessary to promote better social integration and development. In this scenario, this systematic review aims to evaluate the impacts of behavioral therapies applied in healthcare settings for patients with ASD. METHODS: This systematic review followed the PRISMA guidelines. The databases MEDLINE, Embase, CENTRAL (Cochrane), and Lilacs were accessed, and gray and manual searches were performed. The search strategy was created with terms referring to autism and behavioral therapy. The studies were assessed qualitatively. RESULTS: Randomized clinical trials and observational studies demonstrated improvements in cognitive and verbal components of patients who received behavioral therapies in therapeutic settings. These results indicate a positive impact of both cognitive-behavioral therapy and ESDM on the development of patients’ skills. Among the cognitive-behavioral therapies, the one based on the MASSI protocol did not impact the reduction of anxious symptoms. As for cognitive-behavioral therapy, one study demonstrated that the Behavioral Intervention for Anxiety in Children with Autism (BIACA), when compared to the Coping Cat protocol, improves cognition and reduces anxiety symptoms. Despite these results, further randomized clinical trials comparing behavioral therapies with one another are needed. CONCLUSION: In the context of behavioral therapy within a healthcare setting, the Early Start Denver Model (ESDM) showed improvements in the cognitive, verbal, and social aspects of the evaluated patients. Improvement in scores sometimes is achieved independently of the group and related to the time of interventions.

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16. Scheier ZA, Sturm KL, Colavecchio JA, Pradhan A, Otazu GH. Role of Odor Novelty on Olfactory Issues in Autism Spectrum Disorder. Genes Brain Behav. 2024; 23(6): e70008.

Sensory processing abnormalities are a hallmark of autism spectrum disorder (ASD) and are included in its diagnostic criteria. Among these challenges, food neophobia has garnered attention due to its prevalence and potential impact on nutritional intake and health outcomes. This review describes the correlation between novel odor perception and feeding difficulties within the context of ASD. Moreover, this review underscores the role of odor processing in shaping feeding behaviors within the ASD population. It examines the psychophysics of odor perception in individuals with ASD and evaluates the behavioral and neurophysiological assessments conducted using novel odor stimuli in mouse models relevant to autism and wild-type mice. Additionally, we explore the mechanism on how odor novelty affects neuronal circuitry, shedding light on potential underlying mechanisms for the effect of odor novelty on ASD.

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17. Schwartzman JM, Rubin A, Fox KR, Hedley D, Bettis AH. Type, content, and triggers for self-injurious thoughts and behaviors in autistic youth and their disclosure to caregivers. Autism. 2024: 13623613241308327.

Self-injurious thoughts and behaviors are high among autistic youth, yet research most often relies on caregiver reports and does not include youth perspectives. Relatedly, specific characteristics of self-injurious thoughts and behaviors (e.g. type of behavior, thought content, triggers), and choices to share these thoughts and behaviors with caregivers/parents (or not), have not been studied in autistic youth. With limited information on self-injurious thoughts and behaviors in autistic youth, clinicians and families supporting autistic youth in crisis continue to experience major challenges to best assess and support youth. Therefore, to begin to understand youth perspectives of self-injurious thoughts and behaviors, we administered a self-injurious thoughts and behaviors clinical interview (Columbia-Suicide Severity Rating Scale; C-SSRS) to 103 autistic youth without intellectual disability (10-17 years of age) at a clinic for outpatient mental health services. We added follow-up questions to the interview about suicide to better understand what youth think about when it comes to suicide, what triggers them to feel suicidal, and whether they let their caregiver know about what they are thinking and feeling. Results show that most autistic youth reported suicidal thoughts at some point in their life (n = 86; 83.5%), with thoughts of dying/suicide (n = 20; 23.3%) and death by cutting (n = 13; 15.1%) as common thought content. Half of youth experiencing suicidal thoughts (n = 43; 50.0%) did not share this with their caregiver. Nearly one in four youth had attempted suicide at some point in their life (n = 25; 24.3%), while some youth (n = 16; 15.5%) sought help from caregivers to prevent an attempt. Sadness/depression and bullying/teasing were the most common triggers of suicidal behaviors, while anger/frustration was the leading trigger for nonsuicidal self-injury. Findings can be used to improve current assessment tools and prevention approaches for autistic youth to create better support for autistic youth in crisis.

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18. Wada A, Yamada R, Yamada Y, Sumiyoshi C, Hashimoto R, Matsumoto J, Kikuchi A, Kubota R, Matsui M, Nakachi K, Fujimaki C, Adachi L, Stickley A, Yoshimura N, Sumiyoshi T. Autistic trait severity in early schizophrenia: Role in subjective quality of life and social functioning. Schizophr Res. 2024; 275: 131-6.

BACKGROUND: Cognitive impairment is a cardinal feature in patients with schizophrenia and leads to poor social functioning. Recently, the treatment of schizophrenia has evolved to include the goal of improving quality of life (QoL). However, most of the factors influencing subjective QoL are unknown. Autistic traits have been shown to co-occur with various psychiatric conditions including schizophrenia. Hence, the present study aimed to investigate whether cognitive function and autistic trait severity are associated with social functioning and subjective QoL in patients with early schizophrenia. METHODS: Data were analyzed from 183 outpatients diagnosed with early schizophrenia in Tokyo, Japan. Information was obtained on neurocognition with the Japanese version of the Brief Assessment of Cognition in Schizophrenia. Autistic trait severity was assessed using the Autism Spectrum Quotient (AQ), while social functioning was measured with the Specific Levels of Functioning Scale Japanese version. Information was obtained on subjective QoL with the Subjective Well-being under Neuroleptic drug treatment Short form, Japanese version. Multiple regression analysis was used to examined associations. RESULTS: In an analysis adjusted for demographic characteristics (age, sex and education), both autistic trait severity (β = -0.56, p < 0.01) and neurocognitive function (β = 4.37, p < 0.01) were significantly associated with social function. On the other hand, only autistic trait severity made a significant contribution to the prediction of subjective QoL (β = -1.79, p < 0.01). CONCLUSIONS: The results of this study suggest that efforts to detect and treat cognitive impairment and comorbid autistic trait in early schizophrenia may be important for improving social functioning and subjective QoL in this population. In particular intervention that targets autistic trait severity seems to be key to achieving personal recovery in patients with schizophrenia.

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19. Wang RK, Kwong K, Liu K, Kong XJ. New eye tracking metrics system: the value in early diagnosis of autism spectrum disorder. Front Psychiatry. 2024; 15: 1518180.

BACKGROUND: Eye tracking (ET) is emerging as a promising early and objective screening method for autism spectrum disorders (ASD), but it requires more reliable metrics with enhanced sensitivity and specificity for clinical use. METHODS: This study introduces a suite of novel ET metrics: Area of Interest (AOI) Switch Counts (ASC), Favorable AOI Shifts (FAS) along self-determined pathways, and AOI Vacancy Counts (AVC), applied to toddlers and preschoolers diagnosed with ASD. The correlation between these new ET metrics and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) scores via linear regression and sensitivity and specificity of the cut-off scores were assessed to predict diagnosis. RESULTS: Our findings indicate significantly lower FAS and ASC and higher AVC (P<0.05) in children with ASD compared to their non-ASD counterparts within this high-risk cohort; the significance was not seen in total fixation time neither pupil size (p > 0.05). Furthermore, FAS was negatively correlated with ADOS-2 total scores and social affect (SA) subscale (p < 0.05). Among these new ET metrics, AVC yielded the best sensitivity 88-100% and specificity 80-88% with cut off score 0.305-0.306, followed by FAS and ASC to separate ASD from non-ASD for diagnosis. CONCLUSIONS: This study confirms the utility of innovative ET metrics-FAS, AVC, and ASC-which exhibit markedly improved sensitivity and specificity, enhancing ASD screening and diagnostic processes.

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