Pubmed du 04/02/25
1. Bruno G, Lindblom A, Masternes JA, Tupou J, Waisman TC, Toby S, Vining C, Magiati I. Global Indigenous perspectives on autism and autism research: Colonialism, cultural insights and ways forward. Autism;2025 (Feb 4):13623613251318399.
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2. Chen H, Yi B, Ma Z. Resilience of human gut microbiomes in autism spectrum disorder: measured using stiffness network analysis. Microbiol Spectr;2025 (Feb 4):e0107824.
Autism spectrum disorder (ASD) affects an estimated 1%-2% of children worldwide, but its specific etiology remains unclear. In recent years, the gut microbiome’s role in ASD pathogenesis has garnered increasing attention. However, the exact relationship between microbiota and ASD-such as which microbial species significantly impact disease onset and progression-remains unresolved, and effective methods to measure microbial interactions are still lacking. In this study, we introduce an innovative stiffness network analysis (SNA) method to quantify changes in microbial network structure and identify disease-specific microbial bacteria theoretically. The SNA method was applied to reanalyze eight ASD gut microbiome data sets, encompassing 898 ASD samples and 467 healthy control (HC) samples from 16S-rRNA sequencing data. Key findings include the following: (i) an « allies » biomarker subgroup consisting of Bacteroides plebeius, Sutterella, Lachnospira, and Prevotella copri was identified; (ii) a profile monitoring score of 0.72 for the biomarker subgroup, indicating significant relationship changes between HC and ASD states, and (iii) a P/N ratio of biomarker subgroup in ASD-associated gut bacteria that was three times higher than that of HC microbiomes. Additionally, we discuss the non-monotonic relationship alterations within microbial sub-communities in the ASD gut microbiome.IMPORTANCEIt is crucial to assess alterations in network structure in different biological states in order to promote health. The stiffness network allows for the exploration of species interactions and the measurement of resilience in complex microbial networks. The objective of this study was to develop a stiffness network analysis (SNA) method for evaluating the contribution of microbial bacteria in differentiating disease samples from healthy control samples by examining changes in network stiffness parameters. Furthermore, the SNA method was employed on both simulated and real autism spectrum disorder gut microbiome data sets to identify potential microbial biomarker subgroups, with a particular focus on the relationship alterations within microbial networks.
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3. Chen Y, Wang T, Tang E, Ding H. Auditory Global-Local Processing Under Tonal Language Background: Effect of Attention and Autistic Traits. J Speech Lang Hear Res;2025 (Feb 4);68(2):762-778.
PURPOSE: Neurotypical individuals show a robust « global precedence effect (GPE) » when processing hierarchically structured visual information. However, the auditory domain remains understudied. The current research serves to fill the knowledge gap on auditory global-local processing across the broader autism phenotype under the tonal language background. METHOD: This study examined auditory global-local processing styles in 37 Mandarin-speaking young adults (age: M = 20.35, SD = 2.32; 19 males) with varying autistic traits. The participants were required to judge global and local pitch structures in nine-tone melodies with both congruent and incongruent conditions under both directed attention and divided attention modes. RESULTS: We found that GPE persisted independent of the attention modes during hierarchical processing. Autistic traits were among the potential contributors that reshaped GPE in auditory global-local processing under a tonal language background. CONCLUSIONS: Our study provides an initial investigation into auditory global-local processing among Mandarin-speaking individuals across a range of autistic traits, revealing the presence of the GPE effect during hierarchical pitch structure processing. The advantage of global processing versus local processing expanded with increasing autistic traits, providing further support for the notion that auditory global processing may remain intact in autism and the broader phenotype. We highlight that GPE is a process of coarse-to-fine integration of sensory perception and cognitive feedback iteration, which both top-down and bottom-up processes wield influence on. These findings have implications for the study of atypical auditory processing in autism and may help to refine the early diagnosis and auditory-based intervention for autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28114118.
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4. Ishido M, Higashi K, Mori H, Ueno M, Kurokawa K. DNA methylation profiles of transgenerational rat hyperactivity primed by silver nanoparticles: Comparison with valproate model rats of autism. Behav Brain Res;2025 (Feb 4);477:115293.
There is an increasing body of evidence suggesting that a single exposure to certain chemicals can have transgenerational effects, with the underlying mechanism believed to be epigenetic. However, it remains largely unknown whether psychiatric conditions like ADHD or autism, induced by environmental chemicals, can be inherited across generations. Pregnant rats were purchased from a commercial breeder. On the 7th day of gestation (E7), they were divided into two groups: one group was orally exposed to silver nanoparticles (AgNP; 4 mg/kg), while the control group received vehicle alone. The subsequent generation (F1) underwent spontaneous motor activity (SMA) measurements at 8-11 weeks of age. For breeding at 26 weeks of age, rats with higher SMA were selected from hyperactive litters, while untreated rats were randomly selected. This process was continued for four generations in both groups. The AgNP-primed rats at 4th generation displayed significantly higher SMA, 1.8 times greater than that of untreated rats. Intraperitoneal injection of valproic acid (150 mg/kg), an epigenetic modifier to 5-day-old rats causes adult hyperactivity (1.4-fold), suggesting that epigenetic modification contributes to rat hyperactivity. Global DNA methylation profiles in the mesencephalon were positively correlated in both groups of hyperactive rats. Furthermore, there were 7-8 common genes showing both hypermethylation and hypomethylation, which are involved in neuronal development, neuronal function, transcriptional activity, DNA binding activity, cell differentiation, ubiquitination processes, or histone modification, including Pax 6 and Mecp 2. Thus, it is most likely that rats retain hyperactivity through mesencephalic DNA methylation status across transgeneration.
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5. Itahashi T, Aoki R, Nakamura M, Ohta H, Hashimoto RI. Sensory seeking and its influence on sustained attention performance in adult males with Autism Spectrum Condition. Sci Rep;2025 (Feb 3);15(1):4047.
Atypical sensory responses and seeking behaviors constitute the core symptoms of autism spectrum condition (ASC). There are possible links between atypical sensory profiles and attentional challenges in ASC. Due to the paucity of studies in adults, the nature of attentional challenges and their associations with sensory profiles in autistic adults remain elusive. Here, we investigated sustained attention performance and its associations with sensory profiles in 28 autistic adult males and 23 typically developing controls (TDCs). A gradual-onset continuous performance task and the Adolescent/Adult Sensory Profile were employed to assess sustained attention performance and sensory profiles, respectively. Our results revealed that the two groups exhibited comparable sustained attention performance quantified by d-prime. A statistically significant negative correlation between d-prime and sensory seeking was observed only in the ASC group. Moreover, an interaction effect of group-by-sensory seeking was observed in d-prime, suggesting a unique interplay between sensory profiles and attention in autistic individuals. In the ASC group, omission error rate and post-error slowing were statistically significantly associated with difficulties in social communication and interactions. These results contribute to understanding attentional processes in ASC and highlight the potential influence of sensory profiles on cognitive functions in this population.
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6. Kothare H, Ramanarayanan V, Neumann M, Liscombe J, Richter V, Lampinen L, Bai A, Preciado C, Brogan K, Demopoulos C. Vocal and Facial Behavior During Affect Production in Autism Spectrum Disorder. J Speech Lang Hear Res;2025 (Feb 4);68(2):419-434.
PURPOSE: We investigate the extent to which automated audiovisual metrics extracted during an affect production task show statistically significant differences between a cohort of children diagnosed with autism spectrum disorder (ASD) and typically developing controls. METHOD: Forty children with ASD and 21 neurotypical controls interacted with a multimodal conversational platform with a virtual agent, Tina, who guided them through tasks prompting facial and vocal communication of four emotions-happy, angry, sad, and afraid-under conditions of high and low verbal and social cognitive task demands. RESULTS: Individuals with ASD exhibited greater standard deviation of the fundamental frequency of the voice with the minima and maxima of the pitch contour occurring at an earlier time point as compared to controls. The intensity and voice quality of emotional speech were also different between the two cohorts in certain conditions. Additionally, facial metrics capturing the acceleration of the lower lip, lip width, eye opening, and vertical displacement of the eyebrows were also important markers to distinguish between children with ASD and neurotypical controls. Both facial and speech metrics performed well above chance in group classification accuracy. CONCLUSION: Speech acoustic and facial metrics associated with affect production were effective in distinguishing between children with ASD and neurotypical controls. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28027796.
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7. Le H, Bonthrone AF, Uus A, Fenchel D, Lautarescu A, Dimitrakopoulou K, Edwards AD, Hajnal JV, Counsell SJ, Cordero-Grande L, Christiaens D, Batalle D, Pietsch M, Price AN, Patel H, Curtis C, Cullen H, Deprez M, Tournier JD. Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project. Transl Psychiatry;2025 (Feb 4);15(1):40.
Increasing lines of evidence suggest white matter (WM) structural changes associated with autism can be detected in the first year of life. Despite the condition having high heritability, the relationship between autism common genetic variants and WM changes during this period remains unclear. By employing advanced regional and whole-brain fixel-based analysis, the current study investigated the association between autism polygenic scores (PS) and WM microscopic fibre density and macrostructural morphology in 221 term-born infants of European ancestry from the developing Human Connectome Project. The results suggest greater tract mean fibre-bundle cross-section of the left superior corona radiata is associated with higher autism PS. Subsequent exploratory enrichment analysis revealed that the autism risk single nucleotide polymorphisms most associated with the imaging phenotype may have roles in neuronal cellular components. Together, these findings suggest a possible link between autism common variants and early WM development.
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8. Mailick M, Bennett T, DaWalt LS, Durkin MS, Forbes G, Howlin P, Lord C, Zaidman-Zait A, Zwaigenbaum L, Bal V, Bishop S, Chiang CH, DiMartino A, Freitag CM, Georgiades S, Hollocks M, Lai MC, Maenner MJ, Powell PS, Taylor JL, Halladay A. Expanding Research on Contextual Factors in Autism Research: What Took Us So Long?. Autism Res;2025 (Feb 4)
Although autism is a childhood-onset neurodevelopmental disorder, its features change across the life course due to a combination of individual and contextual influences. However, the influence of contextual factors on development during childhood and beyond is less frequently studied than individual factors such as genetic variants that increase autism risk, IQ, language, and autistic features. Potentially important contexts include the family environment and socioeconomic status, social networks, school, work, services, neighborhood characteristics, environmental events, and sociocultural factors. Here, we articulate the benefit of studying contextual factors, and we offer selected examples of published longitudinal autism studies that have focused on how individuals develop within context. Expanding the autism research agenda to include the broader context in which autism emerges and changes across the life course can enhance understanding of how contexts influence the heterogeneity of autism, support strengths and resilience, or amplify disabilities. We describe challenges and opportunities for future research on contextual influences and provide a list of digital resources that can be integrated into autism data sets. It is important to conceptualize contextual influences on autism development as main exposures, not only as descriptive variables or factors needing statistical control.
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9. Richdale AL, Morris EMJ, Lawson LP. Suicidality in Autistic Adolescents and Adults: Sleep the Unexplored Connection?. Autism Res;2025 (Feb 3)
Despite substantial evidence linking insomnia with increased suicidality in non-autistic populations, its role in autism remains under-explored. Poor sleep, most commonly insomnia symptoms (hereafter insomnia), is a significant issue in autism, affecting up to 80% of autistic children and adults, compared with 30%-50% of children and about 45% of adults in the general population. Sleep, along with quality of life, anxiety, depression, and social well-being, is a top mental health research priority for autistic adults. These factors are all significantly associated with insomnia in both autistic and non-autistic individuals. Current findings highlight the association between depression, psychosocial factors, and suicidality in autistic individuals. Key factors in suicidality for autistic people include increased autistic traits, loneliness, lack of social support, and experiences such as camouflaging and burnout. What is under-explored is the role of sleep in suicidality and mental health in autism. Effective psychological interventions for insomnia in autistic individuals are lacking, and there is limited understanding of whether treating insomnia can reduce suicidality. Only two pilot studies have investigated insomnia treatments for autistic adults. In this commentary, we argue that, given the high rate of suicidality in autism and the potential role of insomnia, it is crucial to investigate whether insomnia contributes to suicidality in autistic people and if addressing sleep through prevention strategies, supports, and interventions improves outcomes. Collaboration with the autistic community is essential for addressing this knowledge gap and developing effective interventions.
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10. Samadi SA, Mahmoodizadeh A, Foladgar M, Moradi SB, Lotfi B, McConkey R. The Childhood Autism Rating Scale Second Edition (CARS2) and Its Applicability in an Iranian Sample. Autism Res;2025 (Feb 3)
The present study aimed to evaluate the reliability and validity of the Childhood Autism Rating Scale: Second Edition (CARS2) in diagnosing individuals with autism in Iran. A mixed-method approach was used and 313 participants were recruited, with an age range of 2-32 years, for CARS2-Standard Form (ST) and 218 individuals aged 6-25 years for CARS2-High Functioning (HF). The participants were recruited from daycare centers, schools, and clinics with different developmental trajectories: autism, intellectual disabilities, and neurotypical development. All participants with autism and intellectual disabilities had been clinically diagnosed previously. In addition, the CARS2-Questionnaire of Parent Concerns (QPC) was used to gather qualitative data on 30 randomly selected parents and the perspectives of the 20 test administrators were also collected. The CARS2 had high internal consistency, inter-rater reliability, and test-retest reliability. Factor analyses revealed a one-factor structure for CARS2-ST and a three-factor structure for CARS2-HF. When adjustments were made to the cut-off points, the discriminant analyses indicated that CARS2 effectively differentiated between those with autism and typical development but less so with persons who had intellectual disabilities. The qualitative data analysis and the extracted themes suggest that the CARS2-QPC is a valid tool for collecting autism-related information from parents. Our findings suggest that the CARS2 is broadly a reliable and valid instrument for diagnosing autism spectrum in Iran in the absence of more extensive assessments.
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11. Thorpe D, Kerns CM, Moskowitz LJ, Drahota A, Lerner M. Understanding the Association Between Neighborhood Resources and Trauma-Informed Care Among Providers Who Serve Autistic Youth. Autism Res;2025 (Feb 3)
A growing body of literature suggests that youth with autism spectrum disorders (ASD), herein, autistic youth, face an increased risk of being exposed to adverse childhood experiences (ACEs). However, trauma-informed approaches to care among autistic youth remain limited. In a large cross-sectional survey of ASD providers (N = 670) recruited from five U.S. locations, we examined the association between neighborhood resources using the Child Opportunity Index (i.e., educational, health/environmental, and social/economic opportunities) and the frequency at which providers engaged in trauma-informed care (i.e., inquire about, screen for, treat, and provide referrals for trauma diagnosis and treatment) and the types of adverse childhood experiences (ACEs) they screen for (i.e., maltreatment/neglect and household dysfunction). The latent model revealed that providers in neighborhoods with fewer resources engaged in more trauma-informed care and were more likely to screen for ACEs related to household dysfunction. Follow-up exploratory analyses indicated that providers in the lowest 20% of opportunity neighborhoods made the greatest efforts in trauma screening for maltreatment and household dysfunction, followed closely by those in the lowest 40%, compared to higher-opportunity areas. Sensitivity analyses, controlling for potential nesting effects, confirmed similar results. These findings may suggest a concerted effort to ensure that autistic youth in highly disadvantaged areas receive adequate trauma screening. However, lower screening rates in higher-resourced neighborhoods may mean trauma-exposed autistic youth in these areas are overlooked. Expanding provider training to emphasize trauma inquiry across all neighborhoods could help address this gap. Limitations, implications for policy and practice, and future directions are discussed.
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12. Tsujishita S, Nakashima D, Akizuki K, Takeuchi K. Relationship between visuospatial working memory and fine and gross motor skills in children with developmental disabilities: a preliminary study. J Phys Ther Sci;2025 (Feb);37(2):95-101.
[Purpose] The relationship between fine and gross motor function and visuospatial working memory in children with autism spectrum disorder remains unclear. This study examined whether visuospatial working memory is associated with gross or fine motor skills in children with developmental disabilities and motor coordination disorders. [Participants and Methods] The study included 30 children with autism spectrum disorder (24 boys and 6 girls; mean age: 9.5 ± 2.2 years) enrolled in child development support and after-school daycare service centers in Osaka Prefecture. Fine motor skills, gross motor skills, visuospatial working memory, and developmental disabilities were assessed. Data were analyzed using Spearman’s rank correlation and multiple regression analyses. [Results] A significant relationship was observed between fine motor skills and visuospatial working memory, and a positive correlation remained after controlling for age. Multiple regression analysis with fine motor scores as the dependent variable and age, visuospatial working memory, and Strengths and Difficulties Questionnaire scores as independent variables demonstrated a significant association only for visuospatial working memory. [Conclusion] The study findings suggest that factors influencing fine and gross motor skills vary, highlighting the need for skill-specific interventions to address deficiencies effectively.
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13. Vaillend C, Aoki Y, Mercuri E, Hendriksen J, Tetorou K, Goyenvalle A, Muntoni F. Duchenne muscular dystrophy: recent insights in brain related comorbidities. Nat Commun;2025 (Feb 3);16(1):1298.
Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.
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14. Verbecque E, Johnson C, Scaccabarozzi G, Molteni M, Klingels K, Crippa A. Motor difficulties in children with neurodevelopmental conditions: a report from a cross-national study in Belgian and Italian children. Eur J Pediatr;2025 (Feb 4);184(2):174.
Motor behavior alterations are common in neurodevelopmental disorders (NDDs), including autism, developmental coordination disorder (DCD), and attention deficit hyperactivity disorder (ADHD), but the extent of motor impairment remains unclear. In autism and ADHD, motor difficulties may be linked to co-occurring DCD, which often goes unrecognized. We aimed to map the prevalence of DCD in autism and ADHD, and to explore motor skill difficulties using the Movement Assessment Battery for Children-2 (MABC-2), by comparing children with typical motor development (TMD) with those who have NDDs, and by identifying specific profiles among NDDs. A combined sample of participants (n = 215), including autistic children with(out) intellectual disability (ID) and children with ADHD, DCD, and TMD, performed the MABC-2. Depending on co-occurring DCD/ID, subgroups were composed: autism-only (n = 17), autism + ID (n = 17), autism + DCD (n = 40), ADHD-only (n = 14), ADHD + DCD (n = 12), DCD (n = 25), and TMD (n = 59). MABC-2 differences between TMD/NDDs (Mann-Whitney U test) and among NDDs (Kruskal-Wallis test) were assessed. DCD occurred in 70.2% of the autistic children without ID and in 46.2% of those with ADHD. Children with NDDs performed significantly worse than the TMD (p < 0.001). Manual dexterity skills, aiming and catching, and balance were significantly different across the NDD subgroups (p ≤ 0.001). Particularly children with ( +)DCD and autism + ID performed worse on manual dexterity skills. Children with ( +)DCD were outperformed on aiming and catching. All subgroups, except the ADHD-only group, performed poorly on balance. CONCLUSION: Distinct motor difficulties were identified across various NDDs. Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping. WHAT IS KNOWN: • Despite the common occurrence of motor behavior in neurodevelopmental disorders, the extent of motor impairment remains unclear. • Motor difficulties in autism and ADHD may be linked to co-occurring DCD, which often goes unrecognized. WHAT IS NEW: • DCD occurred in 70% of the autistic children without ID and in 46% of those with ADHD. • Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.
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15. Wagner L, Banchik M, Tsang T, Okada NJ, Altshuler R, McDonald N, Bookheimer SY, Jeste SS, Green S, Dapretto M. Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism. Mol Autism;2025 (Feb 3);16(1):6.
BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis – who are at higher likelihood for developing ASD – a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments.
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16. Zeng R, Jiang R, Huang W, Wu H, Zhuo Z, Yang Q, Li J, Leung FW, Sha W, Chen H. Evaluation of causal relationships between genetic liability to inflammatory bowel disease and autism spectrum disorder by Mendelian randomization analysis. Dialogues Clin Neurosci;2025 (Dec);27(1):26-34.
BACKGROUND: Emerging observational studies have indicated the association between autism spectrum disorder (ASD) and IBD, including Crohn’s disease (CD) and ulcerative colitis (UC), whereas the causality remains unknown. METHODS: Summary-level data from large-scale genome-wide association (GWAS) studies of IBD and ASD were retrieved. Mendelian randomisation analyses were performed with a series of sensitivity tests. RESULTS: Genetic predisposition to ASD was not associated with the risk of IBD (odds ratio [OR] = 0.99, 95% confidence interval [CI = 0.91-1.06, p = 0.70; OR [95% CI]: 1.03 [0.93-1.13], p = 0.58 for CD; OR [95% CI]: 0.96 [0.87-1.05], p = 0.37 for UC) in the IIBDGC dataset. In the FinnGen dataset, their causal effects were unfounded (OR [95% CI]: 1.04 [0.94-1.15], p = 0.49 for IBD; OR [95% CI]: 1.08 [0.89-1.31], p = 0.42 for CD; OR [95% CI]: 1.00 [0.88-1.13], p = 0.95 for UC). In the meta-analysis of two datasets, the OR was 1.01 (95% CI 0.96-1.07, p = 0.45). For the risk of ASD under genetic liability to IBD, the OR from meta-analysis was 1.03 (95% CI 1.01-1.05, p = 0.01). CONCLUSION: Our findings indicate genetic predisposition to ASD might not increase the risk of IBD, whereas genetic liability to IBD is associated with an increased risk of ASD. Further investigations using more powerful datasets are warranted.