Pubmed du 18/03/23

Pubmed du jour

1. Alomar HA, Ansari MA, Nadeem A, Attia SM, Bakheet SA, Al-Mazroua HA, Hussein MH, Alqarni SA, Ahmad SF. A potent and selective CXCR2 antagonist improves neuroimmune dysregulation through the inhibition of NF-κB and notch inflammatory signaling in the BTBR mouse model of autism. J Neuroimmunol;2023 (Mar 10);377:578069.

Autism comprises a broad range of neurodevelopmental disorders characterized by social communication deficits and repetitive and stereotyped behaviors. Chemokine receptor CXCR2 is expressed on neurons and is upregulated in neurological disorders. BTBR T+ Itpr3tf/J (BTBR) mice, a model for autism that shows the core features of ASD. Here, we studied the anti-inflammatory effect of a potent and selective CXCR2 antagonist SB332235 in the BTBR mice. The CXCR2 antagonist represents a promising therapeutic agent for several neuroinflammatory disorders. In this study, we investigated the effects of SB332235 administration on NF-κB-, Notch-1-, Notch-3-, GM-CSF-, MCP-1-, IL-6-, and IL-2- and TGF-β1-expressing CD40+ cells in BTBR and C57BL/6 (C57) mice in the spleen cells by flow cytometry. We further assessed the effect of SB332235 treatment on NF-κB, Notch-1, GM-CSF, MCP-1, IL-6, and IL-2 mRNA expression levels in the brain tissue by RT-PCR. We also explored the effect of SB332235 administration on NF-κB, GM-CSF, IL-6, and TGF-β1 protein expression levels in the brain tissue by western blotting. The SB332235-treated BTBR mice significantly decreases in CD40 + NF-κB+, CD40 + Notch-1+, CD40 + Notch-3+, CD40 + GM-CSF+, CD40 + MCP-1+, CD40 + IL-6+, and CD40 + IL-2+, and increases in CD40 + TGF-β1+ in the spleen cells. Our results further demonstrated that BTBR mice treated with SB332235 effectively decreased NF-κB, Notch-1, GM-CSF, MCP-1, IL-6, and IL-2, increasing TGF-β1 mRNA and protein expression levels in the brain tissue. In conclusion, these results indicate that SB332235 elicits an anti-inflammatory response by downregulating the inflammatory mediators and NF-κB/Notch inflammatory signaling in BTBR mice. This could represent a promising novel therapeutic target for autism treatment.

Lien vers le texte intégral (Open Access ou abonnement)

2. Dharampuriya PR, Abend SL. Roadmap for Creating Effective Communication Tools to Improve Health Equity for Persons With Intellectual and Developmental Disabilities. Front Health Serv;2022;2:859008.

Persons with intellectual and developmental disabilities (IDD) live 20 fewer years than the average person and almost 40% of their deaths are from preventable causes. They suffer from well-documented disparities in health and healthcare, and much of this inequity is rooted in information transfer failures between patients, their caregivers, and their healthcare providers. Tools to improve communication between these stakeholders, such as health checks and hand-held health records, or health passports, have been implemented in Europe, Australia and Canada with mixed results, and there are no standard information tools currently in widespread use in the U.S. We review the evidence of the effectiveness of these tools, as well as their barriers to adoption, to inform proposed development of next-generation information transfer tools most useful to patients with IDD and their healthcare providers. The repair of health information transfer failures will be a major step toward achieving health equity for this population.

Lien vers le texte intégral (Open Access ou abonnement)

3. Dumitriu D, Baldwin E, Coenen RJJ, Hammond LA, Peterka DS, Heilbrun L, Frye RE, Palmer R, Norrman HN, Fridell A, Remnelius KL, Isaksson J, Austin C, Curtin P, Bölte S, Arora M. Deciduous tooth biomarkers reveal atypical fetal inflammatory regulation in autism spectrum disorder. iScience;2023 (Mar 17);26(3):106247.

Atypical regulation of inflammation has been proposed in the etiology of autism spectrum disorder (ASD); however, measuring the temporal profile of fetal inflammation associated with future ASD diagnosis has not been possible. Here, we present a method to generate approximately daily profiles of prenatal and early childhood inflammation as measured by developmentally archived C-reactive protein (CRP) in incremental layers of deciduous tooth dentin. In our discovery population, a group of Swedish twins, we found heightened inflammation in the third trimester in children with future ASD diagnosis relative to controls (n = 66; 14 ASD cases; critical window: -90 to -50 days before birth). In our replication study, in the US, we observed a similar increase in CRP in ASD cases during the third trimester (n = 47; 23 ASD cases; -128 to -21 days before birth). Our results indicate that the third trimester is a critical period of atypical fetal inflammatory regulation in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

4. Faja S, Sabatos-DeVito M, Sridhar A, Kuhn JL, Nikolaeva JI, Sugar CA, Webb SJ, Bernier RA, Sikich L, Hellemann G, Senturk D, Naples AJ, Shic F, Levin AR, Seow HA, Dziura JD, Jeste SS, Chawarska K, Nelson CA, 3rd, Dawson G, McPartland JC. Evaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials. Autism Res;2023 (Mar 16)

Clinical trials in autism spectrum disorder (ASD) often rely on clinician rating scales and parent surveys to measure autism-related features and social behaviors. To aid in the selection of these assessments for future clinical trials, the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) directly compared eight common instruments with respect to acquisition rates, sensitivity to group differences, equivalence across demographic sub-groups, convergent validity, and stability over a 6-week period. The sample included 280 children diagnosed with ASD (65 girls) and 119 neurotypical children (36 girls) aged from 6 to 11 years. Full scale IQ for ASD ranged from 60 to 150 and for neurotypical ranged from 86 to 150. Instruments measured clinician global assessment and autism-related behaviors, social communication abilities, adaptive function, and social withdrawal behavior. For each instrument, we examined only the scales that measured social or communication functioning. Data acquisition rates were at least 97.5% at T1 and 95.7% at T2. All scales distinguished diagnostic groups. Some scales significantly differed by participant and/or family demographic characteristics. Within the ASD group, most clinical instruments exhibited weak (≥ |0.1|) to moderate (≥ |0.4|) intercorrelations. Short-term stability was moderate (ICC: 0.5-0.75) to excellent (ICC: >0.9) within the ASD group. Variations in the degree of stability may inform viability for different contexts of use, such as identifying clinical subgroups for trials versus serving as a modifiable clinical outcome. All instruments were evaluated in terms of their advantages and potential concerns for use in clinical trials.

Lien vers le texte intégral (Open Access ou abonnement)

5. Gallaher L, Butler C, Banerjee S, Wright J, White A, Daley S. Medical student perceptions of autism education: A qualitative study. Front Rehabil Sci;2023;4:1096117.

BACKGROUND: The global prevalence of autism is reported to be at least 1% and is rising. Autistic people have a range of comorbidities resulting in a high use of health services. Doctors of nearly all specialties are likely to encounter autistic people in their practice. Autistic people report dissatisfactory care and encounter disproportionately worse health-related outcomes than non-autistic people, which in part has been attributed to a lack of skill and awareness in the medical workforce. At present, autism education is not always included in undergraduate medical curricula. In England, the Department of Health and Social Care has mandated that autism education should be included in all undergraduate medical curricula but current evidence relating to the delivery and receipt of autism education is poor. A greater understanding of medical student perceptions of autism education is required to inform curriculum development. This qualitative study sought to explore the perceptions of autism education in final year medical students at a medical school in South-East England by 1) assessing their perceived preparedness to care for autistic people once they have graduated from medical school and 2) determining their perceived acceptability of a new undergraduate education programme, Time for Autism (TfA). MATERIALS AND METHODS: A purposeful sample of ten final-year medical students were recruited. Students completed in-depth, individual interviews. Data was analysed using thematic analysis. RESULTS: Four key themes were identified: Learning environment, Exposure, Relevance and Curricular priority. The findings of this study indicate that medical students perceived greatest value in autism education when it was directly relevant to developing preparedness for practice. Value was influenced by the perceived curricular priority attached to autism education. The new autism programme, Time for Autism was perceived to add relevance and priority to autism education in the existing curriculum in this medical school setting. DISCUSSION: The study findings shed new light on medical education literature, emphasising the importance of congruence between the provision of autism education and the prioritisation of autism education within the curriculum. Consideration of relevance and curricular priority can be used to support the development of autism education in future medical curricula.

Lien vers le texte intégral (Open Access ou abonnement)

6. Girolamo T, Ghali S, Eigsti IM. A Community-Based Approach to Longitudinal Language Research With Racially and Ethnically Minoritized Autistic Young Adults: Lessons Learned and New Directions. Am J Speech Lang Pathol;2023 (Mar 16):1-12.

PURPOSE: Language and autism research each typically excludes racially and ethnically minoritized (REM) autistic individuals. In addition, in the case of autistic individuals with language impairment, investigators often approach caregivers to discuss research participation, rather than autistic individuals themselves. This gap limits the ecological validity of language research in autism. To address this gap, this clinical focus article describes strategies for engaging REM autistic young adults with language impairment using lessons learned from 5 years of longitudinal research with this population. This approach involved an ongoing community partnership, as well as participatory partnerships with REM autistic individuals and community stakeholders, consistent with a « slow science » approach. CONCLUSIONS: The approach yielded excellent retention of participants over 5 years and led to co-development of research projects aimed at priorities described by REM autistic individuals and their families, including understanding self-determination, social determinants of health, and language variability in autistic REM individuals with language impairment. Findings support the utility of community-based methods with autistic REM young adults with language impairment, with key takeaways for diversifying research while replicating, extending, and building theory.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hrdlicka M, Urbanek T, Rotreklova A, Kultova A, Valek O, Dudova I. Predictors of age at diagnosis in autism spectrum disorders: the use of multiple regression analyses and a classification tree on a clinical sample. Eur Child Adolesc Psychiatry;2023 (Mar 18)

The increasing prevalence of autism spectrum disorders (ASD) has led to worldwide interest in factors influencing the age of ASD diagnosis. Parents or caregivers of 237 ASD children (193 boys, 44 girls) diagnosed using the Autism Diagnostic Observation Schedule (ADOS) completed a simple descriptive questionnaire. The data were analyzed using the variable-centered multiple regression analysis and the person-centered classification tree method. We believed that the concurrent use of these two methods could produce robust results. The mean age at diagnosis was 5.8 ± 2.2 years (median 5.3 years). Younger ages for ASD diagnosis were predicted (using multiple regression analysis) by higher scores in the ADOS social domain, higher scores in ADOS restrictive and repetitive behaviors and interest domain, higher maternal education, and the shared household of parents. Using the classification tree method, the subgroup with the lowest mean age at diagnosis were children, in whom the summation of ADOS communication and social domain scores was ≥ 17, and paternal age at the delivery was ≥ 29 years. In contrast, the subgroup with the oldest mean age at diagnosis included children with summed ADOS communication and social domain scores < 17 and maternal education at the elementary school level. The severity of autism and maternal education played a significant role in both types of data analysis focused on age at diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

8. Johnson D, Clark C, Hagerman R. Targeted Treatments for Fragile X Syndrome. Adv Neurobiol;2023;30:225-253.

The histories of targeted treatment trials in fragile X syndrome (FXS) are reviewed in animal studies and human trials. Advances in understanding the neurobiology of FXS have identified a number of pathways that are dysregulated in the absence of FMRP and are therefore pathways that can be targeted with new medication. The utilization of quantitative outcome measures to assess efficacy in multiple studies has improved the quality of more recent trials. Current treatment trials including the use of cannabidiol (CBD) topically and metformin orally have positive preliminary data, and both of these medications are available clinically. The use of the phosphodiesterase inhibitor (PDE4D), BPN1440, which raised the level of cAMP that is low in FXS has very promising results for improving cognition in adult males who underwent a controlled trial. There are many more targeted treatments that will undergo trials in FXS, so the future looks bright for new treatments.

Lien vers le texte intégral (Open Access ou abonnement)

9. Koffer Miller KH, Cooper DS, Ventimiglia JC, Shea LL. Feeling intimidated and uncomfortable: Established and exacerbated educational inequities experienced by black parents of autistic children. Autism Res;2023 (Mar 16)

There are clear racial disparities that impact the education system. To capture the educational experiences of family members of Black autistic children as compared to white autistic children in the United States (US), a mixed methods design was implemented and included semi-structured interviews with family members of children between the ages of 5-12 who participated in a survey. The survey responses were used as attribute data. Twenty-nine interviews were conducted with parents of school-age autistic children. Findings from this study highlight challenges experienced by parents including education service use and engagement during the COVID-19 pandemic, engaging with school personnel, and securing accommodations. The findings from this study illuminate the disparities experienced by Black parents of autistic children directly reported by the parents themselves in comparison to white parents. The themes elucidated in this study have implications for policy, practice, and research to ensure equity in educational settings for Black autistic students and their families.

Lien vers le texte intégral (Open Access ou abonnement)

10. Lavenne-Collot N, Tersiguel M, Dissaux N, Degrez C, Bronsard G, Botbol M, Berthoz A. Self/other distinction in adolescents with autism spectrum disorder (ASD) assessed with a double mirror paradigm. PLoS One;2023;18(3):e0275018.

BACKGROUND: Self/other distinction (SOD), which refers to the ability to distinguish one’s own body, actions, and mental representations from those of others, is an essential skill for effective social interaction. A large body of clinical evidence suggests that disruptions in SOD may be key to social communication deficits in individuals with autism spectrum disorders (ASD). In particular, egocentric biases have been found in cognitive, affective, behavioural, and motor domains. However, research in this area is scarce and consists of recognition paradigms that have used only static images; these methods may be insufficient for assessing SOD, given the increasing role of embodiment in our understanding of the pathophysiology of ASD. METHOD: A single-centre, prospective pilot study was carried out to investigate, for the first time, self-recognition and SOD in seven adolescents with ASD compared with matched, typically developing controls (TDCs) using the « Alter Ego »TM double mirror paradigm. The participants viewed a double mirror in which their own face was gradually morphed into the face of an unfamiliar other (self-to-other sequence) or vice versa (other-to-self sequence); participants were instructed to indicate at which point the morph looked more like their own face than the other’s face. Two judgement criteria were used: 1) M1: the threshold at which subjects started to recognize their own face during the other-to-self morphing sequence; 2) M2: the threshold at which subjects started to recognize the other’s face during the self-to-other morphing sequence. RESULTS: Consistent with the predictions, the results showed that the participants with ASD exhibited earlier self-recognition in the other-to-self sequence and delayed other-recognition in the self-to-other sequence, suggesting an egocentric bias. SOD impairments were also marginally correlated with ASD severity, indicating earlier face recognition in more severely affected individuals. Furthermore, in contrast with that of TDCs, the critical threshold for switching between self and other varied with the direction of morphing in ASD participants. Finally, these differences in face recognition and SOD using mirrors, unlike previous research using static images, support the central place of bodily self-consciousness in SOD impairments. CONCLUSIONS: Although additional research is needed to replicate the results of this preliminary study, it revealed the first behavioural evidence of altered SOD in ASD individuals on an embodied, semiecological face-recognition paradigm. Implications for understanding ASD are discussed from a developmental perspective, and new research and therapeutic perspectives are presented.

Lien vers le texte intégral (Open Access ou abonnement)

11. Li Y, Xie T, Cardoso Melo RD, de Vries M, Lakerveld J, Zijlema W, Hartman CA. Longitudinal effects of environmental noise and air pollution exposure on autism spectrum disorder and attention-deficit/hyperactivity disorder during adolescence and early adulthood: The TRAILS study. Environ Res;2023 (Mar 18):115704.

BACKGROUND: Exposure to ambient noise and air pollution may affect the manifestation and severity of Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). However, evidence is limited, and most studies solely assessed environmental exposures during pregnancy and early childhood.. OBJECTIVE: To examine the longitudinal effects of ambient noise and air pollutants on ASD and ADHD symptom severity during adolescence and early adulthood. METHODS: Using a longitudinal design, we included 2750 children between 10 and 12 years old from the TRacking Adolescents’ Individual Lives Survey (TRAILS) in the Netherlands, who were assessed in 6 waves from 2001 to 2017. ASD was measured by the Children’s Social Behavior Questionnaire and the Adult Social Behavior Questionnaire. ADHD was measured by Child Behavior Checklist and the Adult Behavior Checklist. Ambient noise and air pollution exposures, including Ozone (O(3)), soot, sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), particulate matter 2.5 (PM(2.5)), and PM(10) were modeled at the residential level according to standardized protocols. The longitudinal associations between exposures and symptom outcomes were examined using linear mixed models. RESULTS: We found evidence that higher levels of exposure to PM were associated with more severe ASD and ADHD symptoms. This association decreased over time. We did not observe any other consistent associations of noise or other air pollutants with ASD and ADHD severity.. CONCLUSION: The current study provides evidence for the negative impact of PM on ASD and ADHD symptoms. We did not find evidence of the negative health impact of other air pollutants and noise exposures on ASD or ADHD symptoms. Our study adds more evidence on the presence of associations between PM air pollution and neurodevelopmental diseases among adolescents and young adults..

Lien vers le texte intégral (Open Access ou abonnement)

12. Ma D, Huang JL, Xiong T. Association between congenital heart disease and autism spectrum disorders: A protocol for a systematic review and meta-analysis. Medicine (Baltimore);2023 (Mar 17);102(11):e33247.

BACKGROUND: Congenital heart disease (CHD), the most common heart defect in children, refers to congenital disease with abnormal development of the heart or large blood vessels during the fetal period. The researchers suggest that children with CHD show more obvious neurodevelopmental disorders than children with normal development, and children with CHD may have a higher risk of social interaction and communication disorders. This is similar to the characteristics of children with autism spectrum disorder (ASD). However, the association between type of CHD and ASD is not well understood. This systematic review and meta-analysis will reveal the relationship between type of CHD and ASD. METHODS: We will search the Cochrane Library, Embase, PubMed, China National Knowledge Infrastructure, Wanfang, Chinese Scientific Journals Full text, and China Biology Medicine disc databases using relevant subject terms and free words. We will use a fixed effects model or random effects model for meta-analysis. The risk of bias will be assessed by the Newcastle-Ottawa Scale and the agency for health care research and quality. Heterogeneity will be tested by Q statistics and I² values. Publication bias will be detected by funnel plots and Egger test. Subgroup analyses and sensitivity analyses will also be used to explore and interpret the heterogeneity. RESULTS: The study will afford additional insight into the investigation the association between type of CHD and ASD. CONCLUSIONS: The results will provide evidence for the early identification and early intervention of ASD in children with CHD, which may contribute to improving the neurodevelopmental outcome of children with CHD.

Lien vers le texte intégral (Open Access ou abonnement)

13. Menezes M, Soland J, Mazurek MO. Association Between Neighborhood Support and Family Resilience in Households with Autistic Children. J Autism Dev Disord;2023 (Mar 16)

The capacity of families with autistic children to demonstrate resilience is a notable strength that has received little attention in the literature. A potential predictor of family resilience in households with autistic youth is neighborhood support. This study examined the relationship between neighborhood support and family resilience in households with autistic youth utilizing data from the National Survey of Children’s Health. A structural equation model was constructed as neighborhood support and family resilience were latent variables. Findings demonstrated that neighborhood support significantly predicts family resilience. This study contributes to the literature as the first quantitative investigation of predictors of family resilience with this group. Strengths of autistic youth, their families, and their communities can be and should be leveraged to address challenges.

Lien vers le texte intégral (Open Access ou abonnement)

14. Morimoto M, Hashimoto T, Tsuda Y, Suenaga M, Nakamura T, Katoh S. Study on oxidative stress and inflammatory/antioxidant substance levels in autism spectrum disorder. J Chin Med Assoc;2023 (Mar 17)

BACKGROUND: The etiology of autism spectrum disorder (ASD) includes oxidative stress and brain inflammation. We investigated the relationship among oxidative stress markers, in vivo inflammatory substances, and antioxidants that can be easily measured in the clinic and compared them between children with ASD and those with typical development (TD). METHODS: Sixty-one children with TD and 199 with untreated ASD were investigated. They were Japanese children aged 2-15 years and were divided into those aged <7 and ≥7 years. Serum levels of reactive oxygen metabolites (ROMs), high-sensitivity C-reactive protein (hsCRP), prolactin (PRL), albumin (Alb), total bilirubin (T-Bil), and uric acid (UA) were measured. These measurements were compared between TD and ASD, and the relationship between oxidative stress and relevant laboratory parameters was analyzed. RESULTS: The hsCRP and PRL levels were significantly higher in patients with ASD than in those with TD. Among those aged <7 years, hsCRP and PRL were significantly higher in those with ASD than in those with TD. Among those aged ≥7 years, ROMs, hsCRP, and PRL were significantly higher in those with ASD than in those with TD. In ASD, ROMs were significantly correlated with hsCRP, Alb, T-Bil, and PRL. In contrast, no significant correlations were found in the TD group except for the relationship between ROMs and hsCRP in those aged <7 years. CONCLUSION: The results suggest that serum levels of in vivo inflammatory substances, stress-related substances, and antioxidants are altered in ASD under oxidative stress.

Lien vers le texte intégral (Open Access ou abonnement)

15. Mundy P. Research on social attention in autism and the challenges of the research domain criteria (RDoC) framework. Autism Res;2023 (Mar 18)

The fuzzy nature of categories of psychopathology, such as autism, leads to significant research challenges. Alternatively, focusing research on the study of a common set of important and well-defined psychological constructs across psychiatric conditions may make the fundamental etiological processes of psychopathology easier to discern and treat (Cuthbert, 2022). The development of the research domain criteria (RDoC) framework is designed to guide this new research approach (Insel et al., 2010). However, progress in research may be expected to continually refine and reorganize the understanding of the specifics of these mental processes (Cuthbert & Insel, 2013). Moreover, knowledge gleaned from the study of both normative and atypical development can be mutually informative in the evolution of our understanding of these fundamental processes. A case in point is the study of social attention. This Autism 101 commentary provides an educational summary of research over the last few decades indicates that social attention is major construct in the study of human social-cognitive development, autism and other forms of psychopathology. The commentary also describes how this research can inform the Social Process dimension of the RDoC framework.

Lien vers le texte intégral (Open Access ou abonnement)

16. Oppenheim D, Koren-Karie N, Hamburger L, Maccabi Y, Slonim M, Yirmiya N. Parental insightfulness is associated with mother-father-child interactions among families of preschoolers with an Autism Spectrum Disorder diagnosis. J Child Psychol Psychiatry;2023 (Mar 16)

BACKGROUND: Parental insightfulness underlies parental sensitive behavior and is associated with secure attachment among Typically Developing (TD) children and also among children with Autism Spectrum Disorder (ASD). Moving beyond the parent-child dyad, a study of TD children and their parents linked mothers’ and fathers’ combined insightfulness to triadic interactions. The goal of the current study was to examine this association in families with children with ASD. The hypothesis was that the interactions in families in which both parents are insightful will be more cooperative than in families in which only one or neither parent was insightful. METHODS: Eighty preschooler boys with ASD and both of their parents participated in the study. Parental insightfulness was assessed employing the Insightfulness Assessment (IA) and mother-father-child interactions were observed and coded employing the Lausanne Triadic Play (LTP) procedure. RESULTS: As expected, families in which both parents were insightful displayed higher parental coordinated support in the LTP than families in which one or neither parent was insightful, controlling for children’s IQ and severity of symptoms. Children’s engagement with their parents was associated with their IQ and severity of symptoms but not with parental insightfulness. CONCLUSIONS: The importance of considering paternal, in addition to maternal insightfulness as a foundation for parental coordinated support in family interactions, is discussed, as well as the contribution of the LTP in assessing family interactions with children diagnosed with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Vellingiri B, Venkatesan D, Iyer M, Mohan G, Krishnan P, Sai Krishna K, R S, Narayanasamy A, Gopalakrishnan AV, Kumar NS, Subramaniam MD. Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population. J Mol Neurosci;2023 (Mar 17)

Autism spectrum disorder (ASD) is a neurodevelopmental disability that causes social impairment, debilitated verbal or nonverbal conversation, and restricted/repeated behavior. Recent research reveals that mitochondrial dysfunction and oxidative stress might play a pivotal role in ASD condition. The goal of this case-control study was to investigate oxidative stress and related alterations in ASD patients. In addition, the impact of mitochondrial DNA (mtDNA) mutations, particularly MT-ATP6, and its link with oxidative stress in ASD was studied. We found that ASD patient’s plasma had lower superoxide dismutase (SOD) and higher catalase (CAT) activity, resulting in lower SOD/CAT ratio. MT-ATP6 mutation analysis revealed that four variations, 8865 G>A, 8684 C>T, 8697 G>A, and 8836 A>G, have a frequency of more than 10% with missense and synonymous (silent) mutations. It was observed that abnormalities in mitochondrial complexes (I, III, V) are more common in ASD, and it may have resulted in MT-ATP6 changes or vice versa. In conclusion, our findings authenticate that oxidative stress and genetics both have an equal and potential role behind ASD and we recommend to conduct more such concurrent research to understand their unique mechanism for better diagnosis and therapeutic for ASD.

Lien vers le texte intégral (Open Access ou abonnement)

18. Watts J. Engendering misunderstanding: autism and borderline personality disorder. Int J Psychiatry Clin Pract;2023 (Mar 16):1-2.

Objective and Method: Female autism can be misdiagnosed as borderline personality disorder, leading to mistreatment and unnecessary harm. By educating clinicians on how female autism can mimic borderline personality disorder, we can increase the accuracy and effectiveness of diagnosis, ultimately improving patient outcomes.Result: There is a common myth that clinicians can easily recognise borderline personality disorder, leading to a shortcut in the diagnostic process and the potential for missing signs of autism in early childhood.Conclusion: Clinicians must be encouraged to pursue thorough differential diagnoses, especially for women and transgender individuals who experience emotional lability with self-harm.KEY POINTSAutism is underdiagnosed in girls, women, and transgender individuals due both to diagnostic bias, and the quieter, less visible signs and symptoms of female autism.As females are so adept at camouflaging difference, distress generally only becomes manifest during mid childhood and adolescence, when mental illness gets misidentified as primary cause.Early mood difficulties often transform into more serious distress with emotional lability and self-harm. This can get misrecognised as borderline personality disorder, causing preventable harm.Borderline personality disorder is something that clinicians often feel they can recognise immediately, increasing the need to consciously think about differential diagnoses especially when presented with females who self-injure.

Lien vers le texte intégral (Open Access ou abonnement)

19. Xiang X, Yang T, Chen J, Chen L, Dai Y, Zhang J, Li L, Jia F, Wu L, Hao Y, Ke X, Yi M, Hong Q, Fang S, Wang Y, Wang Q, Jin C, Li T. Association of feeding patterns in infancy with later autism symptoms and neurodevelopment: a national multicentre survey. BMC Psychiatry;2023 (Mar 16);23(1):174.

BACKGROUND: We aimed to compare differences in infant feeding patterns (breastfeeding and complementary food supplementation) between children with the autism spectrum disorder (ASD) and typically developing (TD) children through a multicentre study. The relationship between these patterns and later core symptoms and neurodevelopment in children with ASD was also investigated. METHODS: We analysed breastfeeding and complementary feeding patterns in 1389 children with ASD and 1190 TD children. The Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016) was used to assess neurodevelopmental levels. The Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Childhood Autism Rating Scale (CARS), and ASD Warning Behavior Subscale of the CNBS-R2016 were used to assess ASD symptoms. RESULTS: Children with ASD had a shorter breastfeeding duration in infancy (8 (3-12) months vs. 10 (6-14) months, P < 0.001), later introduction of complementary foods (P < 0.001), and poorer acceptance of complementary foods (P < 0.001) than TD children. Total ABC and CARS scores were lower in the group of children with ASD who had been breastfed for 12 months or more than in the group who had been breastfed for less than 6 months. Children with ASD who were given complementary food after 6 months had lower general quotient (GQ), adaptive ability, fine motor and language scores than those who were given complementary food within 4-6 months. Children with ASD with poor acceptance of complementary foods had higher ABC and SRS scores and lower gross motor scores than those who had good acceptance. CONCLUSIONS: Children with ASD have a shorter duration of breastfeeding, a later introduction of complementary foods, and poorer acceptance of complementary foods than TD children. These feeding patterns may be related to the symptoms and growth of children with ASD. The research suggests that continued breastfeeding for longer than 12 months may be beneficial in reducing ASD symptoms and that infants who have difficulty introducing complementary foods should be followed up for neurodevelopment. TRIAL REGISTRATION: The ethics committee of the Children's Hospital of Chongqing Medical University approved the study. Approval Number: (2018) IRB (STUDY) NO. 121, and registered in the Chinese Clinical Trial Registry (Registration number: ChiCTR2000031194, registered on 23/03/2020).

Lien vers le texte intégral (Open Access ou abonnement)

20. Yan T, Lin S, Wang J, Deng F, Jiang Z, Chen G, Su J, Zhang J. AppraisalCloudPCT: A Computational Model of Emotions for Socially Interactive Robots for Autistic Rehabilitation. Comput Intell Neurosci;2023;2023:5960764.

Computational models of emotions can not only improve the effectiveness and efficiency of human-robot interaction but also coordinate a robot to adapt to its environment better. When designing computational models of emotions for socially interactive robots, especially for robots for people with special needs such as autistic children, one should take into account the social and communicative characteristics of such groups of people. This article presents a novel computational model of emotions called AppraisalCloudPCT that is suitable for socially interactive robots that can be adopted in autistic rehabilitation which, to the best of our knowledge, is the first computational model of emotions built for robots that can satisfy the needs of a special group of people such as autistic children. To begin with, some fundamental and notable computational models of emotions (e.g., OCC, Scherer’s appraisal theory, PAD) that have deep and profound influence on building some significant models (e.g., PRESENCE, iGrace, xEmotion) for socially interactive robots are revisited. Then, a comparative assessment between our AppraisalCloudPCT and other five significant models for socially interactive robots is conducted. Great efforts have been made in building our proposed model to meet all of the six criteria for comparison, by adopting the appraisal theories on emotions, perceptual control theory on emotions, a component model view of appraisal models, and cloud robotics. Details of how to implement our model in a socially interactive robot we developed for autistic rehabilitation are also elaborated in this article. Future studies should examine how our model performs in different robots and also in more interactive scenarios.

Lien vers le texte intégral (Open Access ou abonnement)

21. Yi J, Zhao X, Noell CR, Helmer P, Solmaz SR, Vallee RB. Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders. PLoS Genet;2023 (Mar);19(3):e1010642.

Bicaudal D2 (BICD2) is responsible for recruiting cytoplasmic dynein to diverse forms of subcellular cargo for their intracellular transport. Mutations in the human BICD2 gene have been found to cause an autosomal dominant form of spinal muscular atrophy (SMA-LED2), and brain developmental defects. Whether and how the latter mutations are related to roles we and others have identified for BICD2 in brain development remains little understood. BICD2 interacts with the nucleoporin RanBP2 to recruit dynein to the nuclear envelope (NE) of Radial Glial Progenitor cells (RGPs) to mediate their well-known but mysterious cell-cycle-regulated interkinetic nuclear migration (INM) behavior, and their subsequent differentiation to form cortical neurons. We more recently found that BICD2 also mediates NE dynein recruitment in migrating post-mitotic neurons, though via a different interactor, Nesprin-2. Here, we report that Nesprin-2 and RanBP2 compete for BICD2-binding in vitro. To test the physiological implications of this behavior, we examined the effects of known BICD2 mutations using in vitro biochemical and in vivo electroporation-mediated brain developmental assays. We find a clear relationship between the ability of BICD2 to bind RanBP2 vs. Nesprin-2 in controlling of nuclear migration and neuronal migration behavior. We propose that mutually exclusive RanBP2-BICD2 vs. Nesprin-2-BICD2 interactions at the NE play successive, critical roles in INM behavior in RGPs and in post-mitotic neuronal migration and errors in these processes contribute to specific human brain malformations.

Lien vers le texte intégral (Open Access ou abonnement)