1. Alkhalifah S, Allen S, Aldhalaan H. Case Report: ASI intervention on a child with autism in Saudi Arabia. F1000Res;2022;11:50.

Background: Ayres Sensory Integration (ASI) is widely employed by occupational therapists working with clients who experience challenges in sensory integration, including those with autism spectrum disorder (ASD). However, there is a dearth of research examining the feasibility of ASI outside of Western nations. This study documented the barriers associated with ASI in Saudi Arabia and assessed whether the intervention could improve process and participation skills. Methods: Single-Subject experimental design was used. The participant was a 4-year-old girl with ASD from Saudi Arabia. Data were gathered on sensory processing, motor skills, and participation in activities of daily living. The study used semi-structured interviews and assessments (Sensory Integration and Praxis Tests, the Sensory Processing Measure-Preschool, and the Peabody Developmental Motor Scale-2) to develop goals, identify outcome measures, and plan an ASI intervention. Results: Despite the limited availability of resources (e.g., toys, treatment spaces) and Arabic measures, improvements were observed on motor and sensory tasks and in occupational performance. Conclusion: ASI that adheres to the ASI fidelity tool can be of value for Saudi Arabian children with ASD. Additionally, the study provides a stepping-stone to further research for occupational therapists in Saudi Arabia working with children with ASD.

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2. Cyr Brisini KS, Tian X, Solomon D. Marital Experiences and Parental « Highs » and « Lows » When A Child with Autism Starts School. J Autism Dev Disord;2022 (Aug 6)

This study describes parents’ daily « highs » and « lows » during their child’s transition to school for the first time and examines how those experiences relate to turbulence in the parents’ relationship. 106 parents (53 couples) rated their relationship qualities at pre-test and post-test and described « high » and « low » points of their day every three days for 42 days. Content analysis revealed experiences contributing to « high » or « low » points that were primarily related to: the child with ASD, the spouse, other children, personal situations, and other. Latent profile analysis identified three profiles that represented the relationship experiences of couples in the study: resilient couples, couples getting by, and asymmetrically engaged couples. Results highlight the variety of daily experiences these parents encounter.

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3. Davies J, Heasman B, Livesey A, Walker A, Pellicano E, Remington A. Autistic adults’ views and experiences of requesting and receiving workplace adjustments in the UK. PLoS One;2022;17(8):e0272420.

This article examines 181 autistic adults’ views toward, and experiences of, requesting and receiving workplace adjustments in the UK. Using an online survey, we collected both qualitative and quantitative data relating to individuals’ experiences. While the majority of participants perceived workplace adjustments to be important, many were not receiving them. Analysis of open-ended text responses highlighted specific challenges that autistic people face in requesting and receiving adjustments. Specifically, participants felt the onus fell on them to (1) identify their need for adjustments; (2) establish the specific adjustments that would be beneficial and (3) request adjustments from their employer. Yet, they reported struggling with this process. Participants also highlighted a range of social and organisational barriers to the successful implementation of workplace adjustments. Unsurprisingly, the lack of successfully implemented adjustments had far-reaching impacts on participants’ wellbeing as well as the choices they made about their future employment. These findings highlight the need for employers to take a more active role in the identification and implementation of workplace adjustments, as well as a need for more understanding and inclusive working environments that truly allow autistic employees to thrive in the workplace.

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4. Epstein NE, Agulnick MA. Short Review/Perspective on Adjacent Segment Disease (ASD) Following Cervical Fusion Versus Arthroplasty. Surg Neurol Int;2022;13:313.

BACKGROUND: Although the incidence of radiographic Adjacent Segment Disease (ASD) following anterior cervical diskectomy/fusion (ACDF) or cervical disc arthroplasty (CDA) typically ranges from 2-4%/year, reportedly fewer patients are symptomatic, and even fewer require secondary surgery. METHODS: Multiple studies have documented a 2-4% incidence of radiographic ASD following either ACDF or CDA per year. However, fewer are symptomatic from ASD, and even fewer require additional surgery/reoperations. RESULTS: In a meta-analysis (2016) involving 83 papers, the incidence of radiographic ASD per year was 2.79%, but symptomatic disease was present in just 1.43% of patients with only 0.24% requiring secondary surgery. In another study (2019) involving 38,149 patients undergoing ACDF, 2.9% (1092 patients; 0.62% per year) had radiographic ASD within an average of 4.66 postoperative years; the younger the patient at the index surgery, the higher the reoperation rate (i.e. < 40 years of age 4.56 X reoperations vs. <70 at 2.1 X reoperations). In a meta-analysis of 32 articles focusing on ASD 12-24 months following CDA, adjacent segment degeneration (ASDeg) occurred in 5.15% of patients, but adjacent segment disease (AS Dis) was noted in just 0.2%/ year. Further, AS degeneration occurred in 7.4% of patients after 1-level vs. 15.6% following 2 level fusions, confirming that CDA's "motion-sparing" design did not produce the "anticipated" beneficial results. CONCLUSION: The incidence of radiographic ASD ranges from 2-4% per year for ACDF and CDA. Additionally, both demonstrate lesser frequencies of symptomatic ASD, and the need for secondary surgery. Further, doubling the frequency of ASD following 2 vs. 1-level CDA, should prompt surgeons to limit surgery to only essential levels.

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5. Honan I, Sharp N, McIntyre S, Smithers-Sheedy H, Balde I, Quinn K, Morgan M, Rothery S, Butchers T, Laugeson EA. Program evaluation of an adapted PEERS® social skills program in young adults with autism spectrum disorder and/or mild intellectual impairment and social skills difficulties. J Eval Clin Pract;2022 (Aug 4)

RATIONALE, AIMS AND OBJECTIVES: Social challenges are common for young adults with autism spectrum disorder (ASD) and/or mild intellectual impairment, yet few evidence-based interventions exist to address these challenges. PEERS®, the Program for the Education and Enrichment of Relational Skills, has been shown to be effective in improving the social skills of young adults with ASD; however, it requires a significant time commitment for parents of young adults. As such, this mixed-methods study aimed to investigate the experiences of young adults, parents and PEERS® social coaches participating in an adapted PEERS® program, and to evaluate its acceptability and efficacy. METHOD: Young adults with ASD and/or mild intellectual impairment participated in a 16-week PEERS® program. Parents and PEERS® social coaches attended fewer, condensed sessions, where they learnt program content to support the young adults’ social skill development at home and in the community. Focus groups were conducted post intervention. Quantitative pre-post assessment using the Social and Emotional Loneliness Scale for Adults, the Test of Young Adult Social Skills Knowledge, and Quality of Socialization Questionnaire-Young Adults was completed by young adults. The Social Responsiveness Scale Second Edition was completed by young adults and their parents. RESULT: Qualitative results revealed that, taken together, young adults, parents and PEERS® social coaches all felt that the adapted PEERS® program was ‘challenging, but worth it’. The program was acceptable with a 93% attendance rate across all sessions. Whilst young adults’ perceptions of their own social functioning did not change post-intervention, their knowledge of social skills content improved significantly (p < 0.05). Parent perceptions of young adults' social responsiveness also improved (p < 0.05). CONCLUSIONS: Social skill knowledge, social responsiveness, and social engagement improved significantly following the completion of the adapted PEERS® program. It was deemed acceptable and worthwhile by young adults, their parents and PEERS® social coaches.

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6. Kaur M, Costello J, Willis E, Kelm K, Reformat MZ, Bolduc FV. Deciphering the Diversity of Mental Models in Neurodevelopmental Disorders: Knowledge Graph Representation of Public Data Using Natural Language Processing. J Med Internet Res;2022 (Aug 5);24(8):e39888.

BACKGROUND: Understanding how individuals think about a topic, known as the mental model, can significantly improve communication, especially in the medical domain where emotions and implications are high. Neurodevelopmental disorders (NDDs) represent a group of diagnoses, affecting up to 18% of the global population, involving differences in the development of cognitive or social functions. In this study, we focus on 2 NDDs, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which involve multiple symptoms and interventions requiring interactions between 2 important stakeholders: parents and health professionals. There is a gap in our understanding of differences between mental models for each stakeholder, making communication between stakeholders more difficult than it could be. OBJECTIVE: We aim to build knowledge graphs (KGs) from web-based information relevant to each stakeholder as proxies of mental models. These KGs will accelerate the identification of shared and divergent concerns between stakeholders. The developed KGs can help improve knowledge mobilization, communication, and care for individuals with ADHD and ASD. METHODS: We created 2 data sets by collecting the posts from web-based forums and PubMed abstracts related to ADHD and ASD. We utilized the Unified Medical Language System (UMLS) to detect biomedical concepts and applied Positive Pointwise Mutual Information followed by truncated Singular Value Decomposition to obtain corpus-based concept embeddings for each data set. Each data set is represented as a KG using a property graph model. Semantic relatedness between concepts is calculated to rank the relation strength of concepts and stored in the KG as relation weights. UMLS disorder-relevant semantic types are used to provide additional categorical information about each concept’s domain. RESULTS: The developed KGs contain concepts from both data sets, with node sizes representing the co-occurrence frequency of concepts and edge sizes representing relevance between concepts. ADHD- and ASD-related concepts from different semantic types shows diverse areas of concerns and complex needs of the conditions. KG identifies converging and diverging concepts between health professionals literature (PubMed) and parental concerns (web-based forums), which may correspond to the differences between mental models for each stakeholder. CONCLUSIONS: We show for the first time that generating KGs from web-based data can capture the complex needs of families dealing with ADHD or ASD. Moreover, we showed points of convergence between families and health professionals’ KGs. Natural language processing-based KG provides access to a large sample size, which is often a limiting factor for traditional in-person mental model mapping. Our work offers a high throughput access to mental model maps, which could be used for further in-person validation, knowledge mobilization projects, and basis for communication about potential blind spots from stakeholders in interactions about NDDs. Future research will be needed to identify how concepts could interact together differently for each stakeholder.

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7. Mohai K, Kálózi-Szabó C, Jakab Z, Fecht SD, Domonkos M, Botzheim J. Development of an Adaptive Computer-Aided Soft Sensor Diagnosis System for Assessment of Executive Functions. Sensors (Basel);2022 (Aug 6);22(15)

The main objective of the present study is to highlight the role of technological (soft sensor) methodologies in the assessment of the neurocognitive dysfunctions specific to neurodevelopmental disorders (for example, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and specific learning disorder). In many cases neurocognitive dysfunctions can be detected in neurodevelopmental disorders, some of them having a well-defined syndrome-specific clinical pattern. A number of evidence-based neuropsychological batteries are available for identifying these domain-specific functions. Atypical patterns of cognitive functions such as executive functions are present in almost all developmental disorders. In this paper, we present a novel adaptation of the Tower of London Test, a widely used neuropsychological test for assessing executive functions (in particular planning and problem-solving). Our version, the Tower of London Adaptive Test, is based on computer adaptive test theory (CAT). Adaptive testing using novel algorithms and parameterized task banks allows the immediate evaluation of the participant’s response which in turn determines the next task’s difficulty level. In this manner, the subsequent item is adjusted to the participant’s estimated capability. The adaptive procedure enhances the original test’s diagnostic power and sensitivity. By measuring the targeted cognitive capacity and its limitations more precisely, it leads to more accurate diagnoses. In some developmental disorders (e.g., ADHD, ASD) it could be very useful in improving the diagnosis, planning the right interventions, and choosing the most suitable assistive digital technological service.

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8. Moniem Ali R, El-Wakeel HA, Al-Saleh DF, Shukri MI, Ansari KMN. Autism spectrum disorder in architecture perspective: a review of the literature and bibliometric assessment of research indexed in Web of Science. F1000Res;2021;10:1087.

PURPOSE: An increasing number of scholarly publications on autism spectrum disorder (ASD) have urged researcher interest in this topic; however, there is still a lack of quantitative analysis. Therefore, this study aims to cover the knowledge gap between the amount of literature published on ASD research on architectural and designers’ perspectives compared to the medical and psychological fields. The study has analyzed global research output on ASD from a designer’s perspective to recognize this gap related to designing the physical environment. Methodology: The bibliometric method was employed to analyze the published literature from 1992-to 2021. 812 papers were downloaded from the Web of Science for analysis based on annual growth of literature, prolific authors, authorship pattern, organizations, countries, international collaboration, and subject development by keywords and thematic map analyses. Various bibliometric and scientometric software was used to analyze the data, namely Bibexcel, Biblioshiny, and VOS viewer. RESULTS: The812 research papers were published in 405 sources. 2019 appeared as a productive year (NP=101), and 2014 received the highest number of citations (TC=6634). Researchers preferred to publish as journal articles (NP=538; TC=24922). The University of Toronto, Canada, was identified as a productive institution with 42 publications and 5358 citations. The USA was the leading producing country with 433 publications, and most of the researchers published in the journal  » Scientific Reports » (NP=16). The word autism (NP=257) and architecture (NP=165) were more frequently used keywords. CONCLUSION: The study identified a massive gap in the development of literature in ASD for architecture design and built environment perspective, the most important and trending keywords are missing, and the analyses also showed a lack of subject development. The authors have suggested areas and keywords for further research to fulfill the gap in the future.

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9. Pillay S, Duncan M, de Vries PJ. « We are doing the best we can to bridge the gap » – service provider perspectives of educational services for autism spectrum disorder in South Africa. Front Psychiatry;2022;13:907093.

BACKGROUND: The South African education system is increasingly unable to meet the growing needs of children with autism spectrum disorder (ASD). Recent studies in the Western Cape, one of the better resourced provinces in South Africa, showed that the pathway to care for children with ASD was an inconsistent and lengthy process, and that many children with ASD waited for extended periods to get access to an appropriate school placement. It is therefore clear that scalable and sustainable solutions are required to improve access to appropriate education for children with ASD. METHODS: Here we performed a qualitative study using thematic analysis of ten multi-sectorial ASD service provider interviews in the Western Cape Province to examine provider perspectives and proposed solutions to meet the educational needs of children with ASD. RESULTS: Provider perspectives were grouped in three categories: « bridging the gap across the spectrum and lifespan », « gaps to bridge », and « building bridges ». The first category captured provider perspectives of the service-related needs inherent to a diagnosis of ASD. The second category summarized service provider views of the challenges associated with providing services to children with ASD and the third category captured provider perspectives on potential actions to improve ASD education services delivery in the province. The overarching theme that emerged was « We’re doing the best we can to bridge the gap ». CONCLUSION: Participants provided ten key recommendations for service strengthening that may lead to contextually relevant innovations to meet the educational needs of children with ASD in the province. Findings from this study has direct relevance to other South African provinces and may have relevance to improve pathways and reduce service delivery gaps also in other low-and-middle-income countries.

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10. Ratanatharathorn C, Sutchritpongsa S, Ritthita W, Rojmahamongkol P. Evaluation of the Developmental Assessment for Intervention Manual (DAIM) for developmental screening in high-risk infants at 12 months of corrected age. Infant Behav Dev;2022 (Aug);68:101752.

Early detection of developmental delay provides opportunities for early intervention. The Developmental Assessment for Intervention Manual (DAIM) is the simplified screening tool for detection of developmental delay in Thai young infants implemented country-wide by the Ministry of Public Health since 2015. Unlike standard assessment tool, DAIM can be obtained by lay staff or parents and takes less time. We aimed to evaluate the accuracy of the DAIM for detection of developmental delay among high-risk infants. This single center prospective study was conducted from May, 2017 to December, 2021. The infants with corrected aged of 12 months with history of birth asphyxia or low birth weight (<2500 g) who visited a tertiary hospital for developmental assessment were invited to participate the study. The four developmental domains (gross motor, fine motor, receptive language, and expressive language) were assessed by Bayley-III and followed by DAIM in the same visit. The 126 infants were enrolled, 50% were male. Using Bayley-III score < 7 as reference, the sensitivity for gross motor domain, fine motor domain, receptive language and expressive language were 83.3%, 57.1%, 55% and 19.2%, respectively. Specificity for each domain was 75.4%, 88.2%, 74.5% and 92%. Positive predictive value for each domain was 26.3%, 22.2%, 28.9% and 38.5%. Negative predictive value (NPV) for each domain was 97.7%, 97.2%, 89.8% and 81.4%. With high sensitivity and NPV of DAIM in motor domain, but low in expressive language domains, using DAIM alone in high-risk infants can detect motor delay well but will miss many infants with expressive language delaye.

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11. Scheeren AM, Howlin P, Pellicano L, Magiati I, Begeer S. Continuity and change in loneliness and stress during the COVID-19 pandemic: A longitudinal study of autistic and non-autistic adults. Autism Res;2022 (Sep);15(9):1621-1635.

Previous studies have suggested that autistic adults may be negatively affected by the COVID-19 pandemic and its associated restrictions. In this study, we examined continuity and change in loneliness and stress, and their predictors, in 448 autistic and 70 non-autistic adults living in the Netherlands. Autistic participants were assessed on three occasions using the de Jong Gierveld Loneliness Scale and Perceived Stress Scale (pre-lockdown (T0), first lockdown (T1), and second lockdown (T2)); non-autistic participants were assessed twice (T1 and T2). Autistic adults’ loneliness and stress levels remained stable across all three time points over 8 months, but were consistently higher than those of non-autistic adults. Other predictors of higher loneliness and stress levels at the first lockdown (T1) included low perceived social support and high levels of COVID-19 related worries. Although loneliness and stress were stable at the group level, the wellbeing of some autistic adults worsened over the course of the pandemic, while others improved. For instance, adults with a mental health diagnosis (other than autism) prior to the pandemic were more likely to increase in stress over time, whereas adults with higher perceived social support were more likely to decrease in stress over time (from T1 to T2). Factors contributing to variability in outcome require further examination. Moreover, the relatively high loneliness and stress levels in autistic adults call for attention from clinicians and service providers. LAY SUMMARY: In our study, autistic adults reported feeling more lonely and stressed than non-autistic adults during the COVID-19 pandemic. People who missed support from their social network also felt more lonely and stressed. On average, people did not change substantially in their degree of loneliness or stress over time. Yet, we noted large person-to-person differences in the wellbeing of autistic adults during the pandemic.

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12. Thomas RP, Wittke K, Blume J, Mastergeorge AM, Naigles L. Predicting Language in Children with ASD Using Spontaneous Language Samples and Standardized Measures. J Autism Dev Disord;2022 (Aug 5)

This longitudinal study examined the degree to which standardized measures of language and natural language samples predicted later language usage in a heterogeneous sample of children with autism spectrum disorder (ASD), and how this relationship is impacted by ASD severity and interventions. Participants with a diagnosis of ASD (N = 54, 41 males) completed standardized assessments of language and social functioning; natural language samples were transcribed from play-based interactions. Findings indicated that standardized language measures, natural language measures, and ADOS severity were each unique predictors of later lexical use. Intervention types also appeared to impact later language; in particular, participation in mainstream inclusion accounted for significant amounts of variance in children’s mean length of utterance at T3.

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13. Tie X, Yang Y, He C, Zhang L, Che F. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (Aug 10);39(8):836-841.

OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION: Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.

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14. Tsuji C, Furuhara K, Mizutani R, Minami K, Fu P, Zhong J, Higashida H, Yokoyama S, Tsuji T. Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism. Neurosci Lett;2022 (Aug 6);788:136827.

Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder that usually occurs before 3 years old. Animal models of psychiatric disorders are essential for elucidating the underlying preclinical neural mechanisms. Mice that are prenatally exposed to valproic acid (VPA, F1) are widely used as an ASD model. Epigenetics has recently been suggested as a contributor to ASD etiology with the hypothesis that epigenetic marks can be transgenerationally inherited. Previous studies have indicated that autism-like behavioral phenotypes detected in F1 VPA mice transgenetically appear in F2 and F3 generations. However, studies on the autism-like behavioral phenotypes during the early postnatal days in subsequent generations are scarce. Here, the behavioral deficit on postnatal day 5 of the F2 generation was examined to assess the onset of ASD symptoms. Communication disorders were examined by analyzing maternal separation-induced ultrasonic vocalizations (USVs). Although the duration and frequency of USVs were not significantly altered, the emission rate was significantly lower in F2 VPA pups. Furthermore, the locomotive activity with or without littermates was altered in F2 VPA pups. The data of the current study suggest that social deficit and impaired locomotion are inherited by the subsequent generation and were apparent on early postnatal day 5.

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15. Xu S, Men S, Wang X, Zhan F, Yuan X. [Association of MTHFR gene C677T polymorphism with problem behavior and inheritance pattern among children with autism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (Aug 10);39(8):898-902.

OBJECTIVE: To assess the association of C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with autistic behavior and inheritance pattern of children patients. METHODS: Ninety three autism patients were selected as the study group, whilst 93 healthy children were selected as the control group. The C677T genotype of the MTHFR gene was determined, and the correlation between the genotype and the autistic behavior and inheritance pattern were investigated. RESULTS: MTHFR gene C677T locus revealed three genotypes CC, CT and TT. Compared with the control group, the study group had fewer CC genotype but more TT genotype (P<0.05). Individuals with the three genotypes showed a statistically significant difference in the frequencies of four problem behaviors (P<0.05). Regression analysis showed that at least one T allele encoding the degree of 1 and 2 for the 4 problem behaviors that were statistically different. MTHFR gene C677T genotype was associated with autism under the recessive inheritance model and allelic inheritance model (P<0.05). CONCLUSION: The C677T polymorphism of the MTHFR gene is associated with autistic behaviors. Children with the TT genotype or T allele are at higher risk of developing autism, particularly direct gaze, complex limb movements, self-injurious behavior and hyperactivity 1 and 2 related with the degree of coding.

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16. Yang D, Zhao Y, Nie B, An L, Wan X, Wang Y, Wang W, Cai G, Wu S. Progress in magnetic resonance imaging of autism model mice brain. Wiley Interdiscip Rev Cogn Sci;2022 (Aug 5):e1616.

Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by social disorder and stereotypical behaviors with an increasing incidence. ASD patients are suffering from varying degrees of mental retardation and language development abnormalities. Magnetic resonance imaging (MRI) is a noninvasive imaging technology to detect brain structural and functional dysfunction in vivo, playing an important role in the early diagnosisbasic research of ASD. High-field, small-animal MRI in basic research of autism model mice has provided a new approach to research the pathogenesis, characteristics, and intervention efficacy in autism. This article reviews MRI studies of mouse models of autism over the past 20 years. Reduced gray matter, abnormal connections of brain networks, and abnormal development of white matter fibers have been demonstrated in these studies, which are present in different proportions in the various mouse models. This provides a more macroscopic view for subsequent research on autism model mice. This article is categorized under: Cognitive Biology > Genes and Environment Neuroscience > Computation Neuroscience > Genes, Molecules, and Cells Neuroscience > Development.

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