Pubmed du 06/09/24
1. Afshari M, Gharibzadeh S, Pouretemad H, Roghani M. Promising therapeutic effects of high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) in addressing autism spectrum disorder induced by valproic acid. Front Neurosci;2024;18:1385488.
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects various regions of the brain. Repetitive transcranial magnetic stimulation (rTMS) is a safe and non-invasive method utilized for stimulating different brain areas. Our objective is to alleviate ASD symptoms using high-frequency rTMS (HF-rTMS) in a rat model of ASD induced by valproic acid (VPA). METHODS: In this investigation, we applied HF-rTMS for ASD treatment, focusing on the hippocampus. Behavioral assessments encompassed core ASD behaviors, as well as memory and recognition tests, alongside evaluations of anxiety and stress coping strategies. Additionally, we analyzed oxidative stress and a related inflammation marker, as well as other biochemical components. We assessed brain-derived neurotrophic factor (BDNF), Microtubule-associated protein-2 (MAP-2), and synaptophysin (SYN). Finally, we examined dendritic spine density in the CA1 area of the hippocampus. RESULTS: The results demonstrated that HF-rTMS successfully mitigated ASD symptoms, reducing oxidative stress and improving various biochemical factors, along with an increase in dendritic spine density. DISCUSSION: Collectively, our data suggests that HF-rTMS may effectively alleviate ASD symptoms. These findings could be valuable in clinical research and contribute to a better understanding of the mechanisms underlying ASD.
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2. Al-Salihy AAS. Longitudinal trends and correlation between autism spectrum disorder prevalence and sperm quality parameters (2000-2024): a comprehensive statistical analysis. Front Reprod Health;2024;6:1438049.
INTRODUCTION: Over the past few decades, there has been growing concern about the concurrent trends of increasing Autism Spectrum Disorder (ASD) prevalence and declining sperm quality. These trends represent significant public health challenges that warrant thorough investigation of their underlying causes and implications. OBJECTIVES: The primary objectives of this study are to analyze trends in ASD prevalence and sperm quality parameters from 2000 to 2024, assess the statistical significance and effect size of these trends, explore potential correlations between ASD prevalence and sperm quality parameters, and identify significant predictors among sperm quality parameters that influence ASD prevalence. METHODS: This study employed a longitudinal approach using multiple regression, time series analysis, ANOVA, Principal Component Analysis (PCA), hierarchical clustering, logistic regression, and cross-correlation analysis. Data on ASD prevalence were sourced from the CDC Autism and Developmental Disabilities Monitoring Network, while sperm quality data were collected from various published studies. RESULTS: The findings reveal significant negative associations between ASD prevalence and sperm quality parameters such as sperm concentration and motility, suggesting that better sperm quality is linked to lower ASD rates. Conversely, parameters like sperm DNA fragmentation (SDF), volume of ejaculate, pH level, and semen viscosity show positive associations with ASD prevalence, indicating higher values in these parameters correlate with higher ASD rates. CONCLUSION: The study highlights the importance of maintaining reproductive health to potentially mitigate ASD risk and calls for further research to elucidate the underlying mechanisms driving these trends. These findings support the hypothesis that reproductive health factors play a crucial role in ASD etiology and suggest potential biological markers for assessing ASD risk.
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3. Baena S, Jiménez L, Bejarano S, Hidalgo V. Perceived Impact, Needs, and Resources of Grandparents of Children and Adolescents on the Autism Spectrum: A Qualitative Study. J Autism Dev Disord;2024 (Sep 6)
Grandparents play different roles in families of children and adolescents on the autism spectrum. They are frequently engaged in caregiving tasks with the person on the autism spectrum, providing emotional and instrumental support to the family. However, despite their frequent involvement and the importance of their role in the family, there are few studies that address the experiences of these grandparents, particularly in the Spanish and southern Europe context. This study explores the impact and needs of having a grandchild on the autism spectrum and the resources that grandparents have and use to face the difficulties that arise. A semi-structured interview was carried out with 17 grandparents of children and adolescents on the autism spectrum. We conducted a coding reliability thematic analysis of the impact and used a quantitative content analysis of grandparents’ needs and resources. Results indicated three main aspects related to the impact: personal growth, wanting to help and not being able to, and suffering at three levels: for themselves, their sons and daughters, and grandchildren. Grandparents perceived needs in four contexts: their own needs, the needs of the nuclear family, the needs of the person on the autism spectrum, and the needs of society. The most frequent needs were informational and management of behavioral difficulties. In the resources, the most frequently used strategies were religious beliefs and informal support seeking. It is essential to address the quality of parents-grandparents’ relationships, and include grandparents in intervention programmes, as a way of addressing grandparents’ needs.
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4. Chien YL, Hsieh MH, Gau SS. Mismatch Negativity and P3a in Unaffected Siblings of Individuals with Autism Spectrum Disorder and the Exploration on the Neurocognitive Implications. J Autism Dev Disord;2024 (Sep 6)
Evidence suggests different mismatch negativity (MMN) and P3a responses in individuals with autism spectrum disorder (ASD). Since unaffected siblings shared aberrant neurocognition and brain connectivity with ASD probands, this study investigated MMN and P3a responses in unaffected siblings and explored its neurocognitive implications and effects modifiers. We assessed 43 unaffected siblings of ASD probands and 64 non-autistic comparisons (NTC) using MMN and P3a on both frequency and duration oddball paradigms. The amplitude and latency of MMN and P3a were compared between unaffected siblings and NTC, and validated in 67 ASD probands. In addition, the neurocognitive correlates of MMN and P3a parameters were explored in attention performance, spatial working memory (SWM), and visual research via the tasks of the Conners’ Continuous Performance Test and the Cambridge Neuropsychological Test Automated Battery. Compared to NTC, unaffected siblings and ASD probands presented a shorter MMN latency. The P3a amplitude of the duration paradigm (dP3a) was correlated with fewer commission errors, fewer SWM total errors, higher detectability, and more correct responses on visual search tasks. In addition, the dP3a amplitude significantly interacted with sibship, age, and full-scale IQ to predict attention performance, SWM total errors, and total correct response on visual search. Findings suggest that unaffected siblings of ASD may have earlier brain responses upon novelty discrimination. P3a amplitude may correlate with better neurocognitive performance, but the effect was moderated by sibship, age, and intelligence.
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5. Espinosa-Díaz N, Vega-Arce M, Jara MI, Garrido F. Stress in parents of preschoolers with Autism Spectrum Disorders: an update review. Bol Med Hosp Infant Mex;2024;81(4):195-209.
BACKGROUND: Parental stress experienced in the context of caring for children with autism spectrum disorder (ASD) in preschool is significant and has been poorly studied; studies tend to focus on more advanced ages of children where parental symptomatology has become chronic. The current study sought to provide new empirical evidence on factors associated with parental stress. METHODS: An exhaustive search was conducted in four academic databases: CINAHL Complete, Medline Complete, Web of Science (WoS), and Scopus, limiting the articles to those published between 2017 and 2023. RESULTS: The sample obtained consisted of 24 selected articles, which were produced in 11 countries, and all were in English. In terms of content, the topics addressed were the manifestation of parental stress, factors of the child with ASD and their relationship with parental stress, factors of parents of children with ASD, family factors of parents of children with ASD, social factors of parents of children with ASD, parental stress and access to formal care services, and parental stress and specialized interventions. CONCLUSIONS: It is possible to affirm that research reports indicate that the general level of stress among parents of children with ASD is compared to their reference groups, both in relation to child-related stress and other stressors. The variables that affect parental stress exhibit a reciprocal influence among them, so interventions aimed at early childhood should incorporate both the children and their parental figures. This is in consideration of the impact that stress has on the mental health of parents, establishing that parents with better health have early access to support services during the early years of parenting, as well as in later years.
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6. Griffin JW, Naples A, Bernier R, Chawarska K, Dawson G, Dziura J, Faja S, Jeste S, Kleinhans N, Sugar C, Webb SJ, Shic F, McPartland JC. Spatiotemporal Eye Movement Dynamics Reveal Altered Face Prioritization in Early Visual Processing Among Autistic Children. Biol Psychiatry Cogn Neurosci Neuroimaging;2024 (Sep 3)
BACKGROUND: Reduced social attention – looking at faces – is one of the most common manifestations of social difficulty in autism central to social development. Although reduced social attention is well-characterized in autism, qualitative differences in how social attention unfolds across time remains unknown. METHODS: We used a computational modeling (i.e., hidden Markov modeling) approach to assess and compare the spatiotemporal dynamics of social attention in a large, well-characterized sample of autistic (n = 280) and neurotypical (n = 120) children (ages 6-11) that completed three social eye-tracking assays across three longitudinal time points (Baseline, 6 weeks, 24 weeks). RESULTS: Our analysis supported the existence of two common eye movement patterns that emerged across three ET assays. A focused pattern was characterized by small face regions of interest, which had high probability of capturing fixations early in visual processing. In contrast, an exploratory pattern was characterized by larger face regions of interest, with lower initial probability of fixation, and more non-social regions of interest. In the context of social perception, autistic children showed significantly more exploratory eye movement patterns than neurotypical children across all social perception assays and all three longitudinal time points. Eye movement patterns were associated with clinical features of autism, including adaptive function, face recognition, and autism symptom severity. CONCLUSIONS: Decreased likelihood of precisely looking to faces early in social visual processing may be an important feature of autism that was associated with autism-related symptomology and may reflect less visual sensitivity to face information.
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7. Ham A, Chang AY, Li H, Bain JM, Goldman JE, Sulzer D, Veenstra-VanderWeele J, Tang G. Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders. Mol Psychiatry;2024 (Sep 6)
Autism spectrum disorder (ASD) represents a complex of neurological and developmental disabilities characterized by clinical and genetic heterogeneity. While the causes of ASD are still unknown, many ASD risk factors are found to converge on intracellular quality control mechanisms that are essential for cellular homeostasis, including the autophagy-lysosomal degradation pathway. Studies have reported impaired autophagy in ASD human brain and ASD-like synapse pathology and behaviors in mouse models of brain autophagy deficiency, highlighting an essential role for defective autophagy in ASD pathogenesis. To determine whether altered autophagy in the brain may also occur in peripheral cells that might provide useful biomarkers, we assessed activities of autophagy in lympoblasts from ASD and control subjects. We find that lymphoblast autophagy is compromised in a subset of ASD participants due to impaired autophagy induction. Similar changes in autophagy are detected in postmortem human brains from ASD individuals and in brain and peripheral blood mononuclear cells from syndromic ASD mouse models. Remarkably, we find a strong correlation between impaired autophagy and intellectual disability in ASD participants. By depleting the key autophagy gene Atg7 from different brain cells, we provide further evidence that autophagy deficiency causes cognitive impairment in mice. Together, our findings suggest autophagy dysfunction as a convergent mechanism that can be detected in peripheral blood cells from a subset of autistic individuals, and that lymphoblast autophagy may serve as a biomarker to stratify ASD patients for the development of targeted interventions.
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8. Junewicz A, Dhir S, Guo F, Song Y, Stein CR, Baroni A. Trauma diagnoses during emergency psychiatric evaluation among youth with and without autism spectrum disorder. Autism;2024 (Sep 6):13623613241274832.
Autistic youth are more likely to experience maltreatment, victimization, and other traumatic events. However, it can be difficult to identify trauma-related symptoms in autistic youth, especially in those with limited verbal communication. In this study, we compared the prevalence of trauma-related diagnoses given to youth with autism spectrum disorder (ASD) to those given to youth without ASD who presented to a specialized pediatric psychiatric emergency department. We found that youth with ASD were 42% less likely to receive trauma-related diagnoses than youth without ASD. As there is evidence that youth with ASD are no less likely to experience traumatic events compared with youth without ASD, one possible explanation for this result is that trauma-related symptoms are missed during emergency psychiatric evaluations. Developing trauma screening instruments specifically designed for the needs of youth with ASD is an outstanding need.
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9. Kiarashi Y, Suresha PB, Rad AB, Reyna MA, Anderson C, Foster J, Lantz J, Villavicencio T, Hamlin T, Clifford GD. Off-body Sleep Analysis for Predicting Adverse Behavior in Individuals with Autism Spectrum Disorder. IEEE J Biomed Health Inform;2024 (Sep 6);Pp
Poor sleep quality in Autism Spectrum Disorder (ASD) individuals is linked to severe daytime behaviors. This study explores the relationship between a prior night’s sleep structure and its predictive power for next-day behavior in ASD individuals. The motion was extracted using a low-cost near-infrared camera in a privacy-preserving way. Over two years, we recorded overnight data from 14 individuals, spanning over 2,000 nights, and tracked challenging daytime behaviors, including aggression, self-injury, and disruption. We developed an ensemble machine learning algorithm to predict next-day behavior in the morning and the afternoon. Our findings indicate that sleep quality is a more reliable predictor of morning behavior than afternoon behavior the next day. The proposed model attained an accuracy of 74% and a F1 score of 0.74 in target-sensitive tasks and 67% accuracy and 0.69 F1 score in target-insensitive tasks. For 7 of the 14, betterthan-chance balanced accuracy was obtained (p-value<0.05), with 3 showing significant trends (p-value<0.1). These results suggest off-body, privacy-preserving sleep monitoring as a viable method for predicting next-day adverse behavior in ASD individuals, with the potential for behavioral intervention and enhanced care in social and learning settings.
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10. King R, Buxton H, Tyndall I. Aphantasia and autism: An investigation of mental imagery vividness. Conscious Cogn;2024 (Sep 6);125:103749.
OBJECTIVE: The present study investigated whether autistic adults report different levels of mental imagery vividness than non-autistic adults, and, moreover, if autism is associated with aphantasia which is defined as a condition of reduced or absent voluntary imagery. DESIGN AND METHODS: Clinically diagnosed and self-identifying autistic participants were compared with non-autistic participants in their mental imagery vividness (vision, sound, smell, taste, touch, bodily sensation and emotional feeling) and autistic traits using an online survey (N = 121). RESULTS: The autistic group scored significantly lower than the non-autistic group on imagery vividness (d = -0.44), in addition to having a higher proportion of participants scoring at cut-off for aphantasia. Moreover, a similar difference was observed for the emotional feel (η(2) = 0.11). CONCLUSION: The vividness of visual and emotional mental imagery was on average lower for autistic individuals, with a higher proportion presenting at cut-off to be considered an aphantasic.
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11. Maltman N, Sterling A, Santos E, Hagerman R. Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation. Sci Rep;2024 (Sep 5);14(1):20707.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the pervasive physical and cognitive effects of FXTAS, no studies have examined language in symptomatic males and females, limiting utility as an outcome measure in clinical trials of FXTAS. The goal of this work is to determine (a) the extent to which male and female FMR1 premutation carriers with FXTAS symptoms differ in their language use and (b) whether language production predicts FXTAS symptoms. Thirty-one individuals with the FMR1 premutation (21M, 10F), ages 58-85 years with some symptoms of FXTAS, were recruited from a larger cross-sectional study. Participants completed a five-minute monologic language sample. Language transcripts were assessed for rate of dysfluencies, lexical-semantics, syntax, and speech rate. Multivariable linear and ordinal regressions were used to predict FXTAS-associated symptoms, cognitive functioning, and executive functioning. Males and females did not differ in their language use. Language production predicted FXTAS symptom severity, cognitive functioning, and executive functioning. Language production difficulties may co-occur with FXTAS-associated symptoms and may be a viable outcome measure in future clinical trials, with future research needed.
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12. Moore L, Foley S, Larkin F. Understanding the experiences of receiving and providing maternity care for autistic adults: A Multi-perspectival Interpretative Phenomenological Analysis study. Autism;2024 (Sep 6):13623613241274518.
Autistic mothers may experience unique challenges when accessing maternity care. A better understanding of the experience of autistic mothers and maternity care professionals would help to create opportunities to support better maternity care. In this study, we interviewed autistic mothers and professional midwives, living and working across the United Kingdom and Ireland. In the interviews, the autistic mothers recalled challenges they faced in the hospital settings, difficulties in communicating their needs, and distress when being physically examined. The midwives we interviewed brought their personal experiences of autism (some were autistic themselves, while others had autistic family members) and made efforts to accommodate autistic mothers where possible. This included paying attention to potential sensory issues, trying to establish a relationship with the mothers and communicating what was going on without medical jargon. However, the midwives were limited in their ability to fully attend to the needs of autistic mothers due to time and resource restraints. Both the midwives and autistic mothers felt that midwife-led births were more attentive to the needs of mothers. Based on our findings, we recommend further training and awareness on autism in midwifery and suggest that changes relating to sensory and communication challenges would benefit both autistic and non-autistic. Our study provides important insight into this experience of maternity care from two perspectives and emphasises the need for greater inclusivity in maternity care services.
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13. Ni HC, Chen YL, Hsieh MY, Wu CT, Chen RS, Juan CH, Li CT, Gau SS, Lin HY. Improving social cognition following theta burst stimulation over the right inferior frontal gyrus in autism spectrum: an 8-week double-blind sham-controlled trial. Psychol Med;2024 (Sep 6):1-12.
BACKGROUND: The right inferior frontal gyrus (RIFG) is a potential beneficial brain stimulation target for autism. This randomized, double-blind, two-arm, parallel-group, sham-controlled clinical trial assessed the efficacy of intermittent theta burst stimulation (iTBS) over the RIFG in reducing autistic symptoms (NCT04987749). METHODS: Conducted at a single medical center, the trial enrolled 60 intellectually able autistic individuals (aged 8-30 years; 30 active iTBS). The intervention comprised 16 sessions (two stimulations per week for eight weeks) of neuro-navigated iTBS or sham over the RIFG. Fifty-seven participants (28 active) completed the intervention and assessments at Week 8 (the primary endpoint) and follow-up at Week 12. RESULTS: Autistic symptoms (primary outcome) based on the Social Responsiveness Scale decreased in both groups (significant time effect), but there was no significant difference between groups (null time-by-treatment interaction). Likewise, there was no significant between-group difference in changes in repetitive behaviors and exploratory outcomes of adaptive function and emotion dysregulation. Changes in social cognition (secondary outcome) differed between groups in feeling scores on the Frith-Happe Animations (Week 8, p = 0.026; Week 12, p = 0.025). Post-hoc analysis showed that the active group improved better on this social cognition than the sham group. Dropout rates did not vary between groups; the most common adverse event in both groups was local pain. Notably, our findings would not survive stringent multiple comparison corrections. CONCLUSIONS: Our findings suggest that iTBS over the RIFG is not different from sham in reducing autistic symptoms and emotion dysregulation. Nonetheless, RIFG iTBS may improve social cognition of mentalizing others’ feelings in autistic individuals.
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14. Paixão I, de Moura FS, de Oliveira LP, Garcia LF. Portuguese-language content about autism spectrum disorder on YouTube: a cross-sectional study. Trends Psychiatry Psychother;2024 (Sep 5)
AIM: This study evaluated the quality and reliability of information about autism spectrum disorder (ASD) available in Portuguese on YouTube, based on the growing demand for accessible information about ASD and the relevance of digital platforms as sources of health information. METHODS: Using a cross-sectional observational study design, videos published in the last 5 years with more than 50,000 views were selected. The analysis consisted of two stages: characterization of the profile of the selected videos and assessment of information quality with the DISCERN Questionnaire. RESULTS: A total of 48 videos, predominantly produced by healthcare providers and educators, were analyzed. The content of videos made by professionals was of higher quality and reliability compared to videos posted by laypersons and news reports. These findings highlight expertise in the field as a critical determinant of content quality, stressing the importance of relying on expert sources when disseminating information about ASD. The ICD-10 and DSM-V were rarely mentioned, especially in videos by non-professionals, which is indicative of challenges in conveying diagnostic information. CONCLUSIONS: The findings of this study demonstrate the significant potential of YouTube as an educational tool to raise ASD awareness, but also highlight the need for a collaborative approach between content creators, healthcare providers, educators, and policymakers to ensure that the information made available is reliable, accurate, and of high quality. Therefore, we recommend the development of specific guidelines for content creators and the implementation of verification mechanisms for YouTube channels run by subject matter experts.
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15. Perry RC, Johnson MH, Charman T, Pascoe G, Tolmie A, Thomas MSC, Dumontheil I, Jones EJH. Twenty-four-month effortful control predicts emerging autism characteristics. Dev Sci;2024 (Sep 6):e13560.
Longitudinal research can assess how diverging development of multiple cognitive skills during infancy, as well as familial background, are related to the emergence of neurodevelopmental conditions. Sensorimotor and effortful control difficulties are seen in infants later diagnosed with autism; this study explored the relationships between these skills and autism characteristics in 340 infants (240 with elevated familial autism likelihood) assessed at 4-7, 8-10, 12-15, 24, and 36 months. We tested: (1) the relationship between parent-reported effortful control (Rothbart’s temperament questionnaires) and sensorimotor skills (Mullen Scales of Early Learning), using random intercept cross-lagged panel modelling; (2) whether household income and maternal education predicted stable individual differences in cognition; (3) sensorimotor and effortful control skills as individual and interactive predictors of parent-reported autism characteristics (Social Responsiveness Scale) at 3 years, using multiple regression; and (4) moderation of interactions by familial likelihood. Sensorimotor skills were longitudinally associated with effortful control at the subsequent measurement point from 12-15 months. Socioeconomic status indicators did not predict stable between-infant differences in sensorimotor or effortful control skills. Effortful control skills were longitudinally related to 3-year autism characteristics from the first year of life, with evidence for an interaction with sensorimotor skills at 24 months. Effects of effortful control increased with age and were particularly important for infants with family histories of autism. Results are discussed in relation to different theoretical frameworks: Developmental Cascades and Anterior Modifiers in the Emergence of Neurodevelopmental Disorders. We suggest a role for 24-month effortful control in explaining the emergent autism phenotype. RESEARCH HIGHLIGHTS: Sensorimotor skills longitudinally predicted effortful control from 12-15 months onward but effortful control did not longitudinally predict sensorimotor skills during infancy. Measures of effortful control skills taken before the age of 1 predicted continuous variation in autism characteristics at 36 months, with associations increasing in strength with age. Effortful control (measured at 12-15 and 24 months) was a stronger predictor of 36-month autism characteristics in infants with elevated familial likelihood for autism. The relationship between 24-month sensorimotor skills and 36-month autism characteristics was stronger in infants with weaker effortful control skills.
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16. Préfontaine I, Normand C, Berbari J, Fecteau S, Ruel J, Couture M. Involvement of Autistic Adults in Recreational Activities. J Autism Dev Disord;2024 (Sep 6)
PURPOSE: Participation in recreational activities (RA) has a positive impact on quality of life. The involvement of autistic adults in RA has rarely been documented. This study aimed to describe the RA involvement of autistic adults with and without intellectual disability (ID), and identify potential facilitators and barriers to their participation. METHODS: We conducted a wide-ranging online survey of autistic people aged 16 years and over living in Québec, Canada. This study focused on the questions concerning RA. We recruited participants through social media and community partners. RESULTS: The sample consisted of 316 participants. The most frequent activities engaged in were cultural outings, city walks, and nature walks. About 40% of participants frequently engaged in at least three different activities. About 12% did not engage in any frequent activity. Nearly 95% of participants reported participating in at least one activity with others, with family members identified most often as partners. For all participants, involvement in RA was facilitated by interest in the activity, a comfortable environment, and being accompanied by a friend or family member. Conversely, presence of a crowd, high cost of activities, and limited availability of RA restricted respondents’ participation. CONCLUSIONS: RA of autistic adults are diverse in terms of number and type of activities engaged in. Family members play a crucial role in the respondents’ RA involvement. Parent proxy identified barriers stemming mainly from the environment. Barriers identified by self-respondents came from the interaction of autistic traits with the environment.
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17. Romanovsky E, Choudhary A, Peles D, Abu-Akel A, Stern S. Uncovering convergence and divergence between autism and schizophrenia using genomic tools and patients’ neurons. Mol Psychiatry;2024 (Sep 5)
Autism spectrum disorders (ASDs) are highly heritable and result in abnormal repetitive behaviors and impairment in communication and cognitive skills. Previous studies have focused on the genetic correlation between ASDs and other neuropsychiatric disorders, but an in-depth understanding of the correlation to other disorders is required. We conducted an extensive meta-analysis of common variants identified in ASDs by genome-wide association studies (GWAS) and compared it to the consensus genes and single nucleotide polymorphisms (SNPs) of Schizophrenia (SCZ). We found approximately 75% of the GWAS genes that are associated with ASD are also associated with SCZ. We further investigated the cellular phenotypes of neurons derived from induced pluripotent stem cell (iPSC) models in ASD and SCZ. Our findings revealed that ASD and SCZ neurons initially follow divergent developmental trajectories compared to control neurons. However, despite these early diametrical differences, both ASD and SCZ neurons ultimately display similar deficits in synaptic activity as they mature. This significant genetic overlap between ASD and SCZ, coupled with the convergence towards similar synaptic deficits, highlights the intricate interplay of genetic and developmental factors in shaping the shared underlying mechanisms of these complex neurodevelopmental and neuropsychiatric disorders.
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18. Saadatnia M, Karamimatin B, Soltani S. Inclusive education for all: Steps to ensure equal access to special education services for students with autism spectrum disorders. J Res Med Sci;2024;29:30.
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19. Stefanelli G, Pili MP, Crifaci G, Capelli E, Beretta C, Riboldi EM, Billeci L, Cantiani C, Molteni M, Riva V. Pupillary responses for social versus non-social stimuli in autism: A systematic review and meta-analysis. Neurosci Biobehav Rev;2024 (Sep 3);166:105872.
Pupillometry has gained attention as a valuable tool for assessing autonomic nervous system activity and studying phasic changes in pupil size to comprehend underlying neurocognitive mechanisms. However, knowledge regarding pupillary responses to social processing in autism is limited. We conducted a systematic review and meta-analysis, examining research studies on pupil size changes that compare social and non-social stimuli in autism. Electronic searches were performed for articles up to September 2023 and relevant studies were evaluated following PRISMA guidelines. Out of 284 articles screened, 14 studies were eligible for systematic review. The results indicated that non-autistic individuals showed larger pupil size for social compared to non-social stimuli (g = 0.54; 95 % CI [0.25, 0.82]), whereas autistic individuals seemed to exhibit no differences between the two conditions. However, high heterogeneity was observed between studies in autistic populations, compromising interpretability. Despite such limitations, pupillary responses may constitute an objective physiological marker of social processing in autism. This review emphasizes the need for further investigations into pupillary responses in autism across different life stages.
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20. Tan DW, Crane L, Haar T, Heyworth M, Poulsen R, Pellicano E. Reporting community involvement in autism research: Findings from the journal Autism. Autism;2024 (Sep 6):13623613241275263.
There has been a growing push for the Autistic and autism communities to be more actively involved in autism research. From January 2021, the journal Autism made it a rule for authors to report whether they involved community members in their work; and if they did, how they had done so. In this study, we wanted to see how this new rule has changed things. Our team of Autistic and non-autistic researchers read all 283 articles published in Autism in 2019, about 2 years before the rule was in place, and in 2022, about 1 year after. We recorded what each article was about and how the community was involved. We found there was an increase in how often articles talked about community involvement – from about 10% before the rule to over 50% after. Most of these studies, however, only involved community members giving advice, with the researchers making most decisions about the research. This was especially true for applied research (like wellbeing) rather than basic science (like causes of autism). Also, some of these articles were unclear or did not give enough information for us to understand how the community was involved. This tells us that while it is promising that more community involvement is reported, researchers need to describe this involvement more clearly. It is also important for community members to have a bigger say in research by sharing power with the researchers or even leading the research themselves.
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21. Velasco-Hidalgo L, González-Garay A, Rizzoli-Córdoba A, Rivera-Luna R, García-Guzmán A, Ortiz-Razo AG, Olmedo-Jiménez EA, Cárdenas-Cardós R, Carmona-Jaimez KS, Zapata-Tarrés M. Risk of alterations in neurodevelopment in infants and preschool children with cancer. Bol Med Hosp Infant Mex;2024;81(4):217-224.
BACKGROUND: Some cancer survivors experience difficulties with concentration, attention, and memory; however, there are no studies on neurodevelopment in patients under 5 years of age who are undergoing cancer treatment. Our aim was to evaluate neurodevelopment in cancer patients under 5 years of age using the Early Development Instrument (EDI) test, considering factors such as nutritional status, type of cancer, and treatment effect. METHODS: A cross-sectional study was conducted from February 2018 to March 2019. Patients with cancer diagnoses outside the central nervous system in any phase of cancer treatment were included. RESULTS: A total of 45 patients were included. Regarding fine motor skills, 28% of patients with retinoblastoma and 23% of patients with leukemia or lymphoma had a risk of developmental delay compared to 0% of patients with solid tumors (p = 0.025). The final results showed that 19 (42.2%) patients had normal neurodevelopment (gray), 7 (15.5%) had a delay in neurodevelopment (light gray), and 19 (42.2%) had a risk of developmental delay (black). Regarding developmental delay, 52% of patients in the leukemia and lymphoma group, 71% in the retinoblastoma group, and 23% in the solid tumor group presented developmental delay (p = 0.06). CONCLUSIONS: The risk of delay and lag in neurodevelopment is common in cancer patients under 5 years of age undergoing treatment. However, more studies are required to evaluate the effect of treatment on this group of patients as it may be affected by various factors.
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22. Wang L, Jiang D, Chen Y, Zhang S, Rozelle S. Paths of cognitive and social-emotional delays before age three in rural China: Predictive power on skills at preschool age. PLoS One;2024;19(9):e0310016.
Cognitive and social-emotional development in the first three years of life is associated with later skills. However, little is known about the paths of developmental delays in both cognitive and social-emotional skills before age 3 or to what extent these paths predict later developmental outcomes. The aim of this study is to examine the associations between the different paths of developmental delays in both cognitive and social-emotional skills of children before age 3 and the levels of development of the children when they are preschool age. Using a longitudinal data collected at three time points from 1245 children and their caregivers in rural China, we identified four different paths of developmental delays in cognitive and social-emotional before age 3 and examined how these paths are associated with different levels of developmental outcomes at preschool age. We used a non-parametric standardization approach and an ordinary least squares model to perform our analyses. Findings show that rates of developmental delays in either cognitive or social-emotional domain or both domains are high at all different time points, ranging from 20% to 55% for cognitive delays and 42% to 61% for social-emotional delays. Over half of children experienced deteriorating levels of either cognitive or social-emotional development before age 3. A large share of children was found to be persistently delayed in either domain. Only a small share of children raised their levels of development in either domain before age 3. In addition, we identified certain socioeconomic status of the family that are associated with never or deteriorating path of child developmental delays. More importantly, we revealed that different paths of developmental delays before age 3 have predictive power on different levels of developmental outcomes at preschool age. Our results suggest that actions are needed at the earliest times to improve child development when children are still infants or toddlers.
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23. Wang L, Pfordresher PQ, Jiang C, Liu F. Atypical vocal imitation of speech and song in autism spectrum disorder: Evidence from Mandarin speakers. Autism;2024 (Sep 6):13623613241275395.
Atypical vocal imitation has been identified in English-speaking autistic individuals, whereas the characteristics of vocal imitation in tone-language-speaking autistic individuals remain unexplored. By comparing speech and song imitation, the present study reveals a unique pattern of atypical vocal imitation across speech and music domains among Mandarin-speaking autistic individuals. The findings suggest that tone language experience does not compensate for difficulties in vocal imitation in autistic individuals and extends our understanding of vocal imitation in autism across different languages.