Pubmed du 16/07/22

Pubmed du jour

1. Chen L, An S, Dai H, He X. Use of Aspect Markers by Mandarin-speaking Children with High-Functioning Autism Plus Language Impairment and Children with Developmental Language Disorder. J Commun Disord;2022 (Jul 6);99:106245.

INTRODUCTION: This study investigates the comprehension and production of four typical Mandarin aspect markers zai-, -le, -zhe, and -guo by preschool children with high functioning autism plus language impairment (HFA-LI) and those with developmental language disorder (DLD), by comparing them with typically developing age-matched (TDA) children. METHODS: Twenty children with HFA-LI (M/F: 18/2; mean age: 5.20), 20 with DLD (M/F: 11/9; mean age: 5.25), and 20 TDA children (M/F:14/6; mean age:5.27) completed a picture-choice task and priming picture-description task. The results were analyzed using non-parametric methods. RESULTS: In the comprehension task, the HFA-LI and DLD groups achieved lower accuracy than the TDA group on zai-, -le, and -guo. The comprehension of aspect markers in the HFA-LI and DLD groups was affected by lexical aspect. In the production task, the HFA-LI and DLD groups produced fewer sentences with the target aspect marker for all four aspect markers than the TDA group. However, they produced more sentences with bare verb forms for zai- and -guo than the TDA group. Furthermore, all three groups tended to combine aspect markers with their semantically inherent types of verbs (e.g, zai-+Activity verbs). The HFA-LI group produced more sentences irrelevant to the task than the other two groups for -zhe and -guo, and some children in the HFA-LI group produced ungrammatical sentences in which both the progressive zai- and perfective -le were used. CONCLUSIONS: Children with HFA-LI and DLD demonstrate similarities in the comprehension and production of Mandarin aspect markers, given their poor comprehension of the aspect markers zai-, -le and -guo, and poor production of all four aspect markers compared to their TDA peers. Their performance was also impacted by lexical aspect.

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2. Coelho S, Bonatti SM, Doering E, Paskaleva-Yankova A, Stephan A. Moral Agency, Rules, and Temporality in People Who Are Diagnosed With Mild Forms of Autism: In Defense of a Sentimentalist View. Front Psychol;2022;13:875680.

The origin of moral agency is a much-debated issue. While rationalists or Kantians have argued that moral agency is rooted in reason, sentimentalists or Humeans have ascribed its origin to empathic feelings. This debate between rationalists and sentimentalists still stands with respect to persons with mental disorders, such as individuals diagnosed with mild forms of Autism Spectrum Disorder (ASD), without intellectual impairment. Individuals with ASD are typically regarded as moral agents, however their ability for empathy remains debated. The goal of this paper is to investigate the mechanisms of moral actions in people with ASD, by finding arguments for the origin of their moral actions, supporting either the sentimentalist or the rationalist view of the dispute. We propose to revisit the debate using Interpretative Phenomenological Analysis to study the autobiographies of individuals with High-Functioning Autism (HFA) and Asperger Syndrome (AS). While conducting the systematic analysis of 10 autobiographies, we re-examined both the rationalist and the sentimentalist positions, considering the links between empathic feelings and moral agency. The investigation of the temporal dimensions of emotional experiences, an aspect overlooked by previous research, indicated that individuals with ASD empathize with others, but in different ways as compared to neurotypicals. A relationship between emotional experience and the type of moral agency exhibited by individuals with forms of ASD was established. As a consequence, our analyses support the sentimentalist stance on moral action.

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3. Kim IB, Lee T, Lee J, Kim J, Lee S, Koh IG, Kim JH, An JY, Lee H, Kim WK, Ju YS, Cho Y, Yu SJ, Kim SA, Oh M, Han DW, Kim E, Choi JK, Yoo HJ, Lee JH. Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder. Mol Psychiatry;2022 (Jul 15)

Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD). We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions. Non-coding DNMs in chromatin interactions were significantly involved in transcriptional dysregulations related to ASD risk. Correspondingly, target genes showed spatiotemporal expressions relevant to ASD in developing brains and enrichment in biological pathways implicated in ASD, such as histone modification. Regarding clinical features of ASD, non-coding DNMs in chromatin interactions particularly contributed to low intelligence quotient levels in ASD probands. We further validated our findings using two replication cohorts, Simons Simplex Collection (SSC) and MSSNG, and showed the consistent enrichment of non-coding DNM-disrupted chromatin interactions in ASD probands. Generating human induced pluripotent stem cells in two ASD families, we were able to demonstrate that non-coding DNMs in chromatin interactions alter the expression of target genes at the stage of early neural development. Taken together, our findings indicate that non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.

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4. Liljenwall H, Lean RE, Smyser TA, Smyser CD, Rogers CE. Parental ADHD and ASD symptoms and contributions of psychosocial risk to childhood ADHD and ASD symptoms in children born very preterm. J Perinatol;2022 (Jul 15)

OBJECTIVES: Examine maternal and paternal ADHD and ASD symptoms in relation to very preterm (VPT) and full-term (FT) children’s ADHD and ASD symptoms. STUDY DESIGN: In this longitudinal study, maternal- and teacher-report of child ADHD and ASD symptoms were obtained for 119 children (VPT = 79, FT = 40) at age 5-years using the Conner’s Rating Scale-Revised (CRS-R) and Social Responsiveness Scale-2 (SRS-2). A biological parent completed self- and observer-report CRS-R and SRS-2, and measures of mood/affect, stress, and social support to assess psychosocial distress. Data were analyzed using mixed-effect models adjusted for covariates. RESULTS: Child ADHD symptoms were associated with VPT birth, maternal distress, and maternal ADHD symptoms (p ≤ 0.02), and paternal ADHD symptoms (p < 0.001). Regarding ASD, VPT birth and parental ASD symptoms were associated with child ASD symptoms (p ≤ 0.009). Parental symptoms and birth group had no interaction. CONCLUSIONS: VPT birth and parental psychopathology represent independent risks for ADHD and ASD.

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5. Locke J, Hassrick EM, Stahmer AC, Iadarola S, Boyd B, Mandell DS, Shih W, Hund L, Kasari C. Using Novel Implementation Tools for Evidence-based Intervention Delivery (UNITED) across public service systems for three evidence-based autism interventions in under-resourced communities: study protocol. BMC Psychiatry;2022 (Jul 16);22(1):478.

BACKGROUND: There are a growing number of evidence-based interventions (EBIs) for autistic individuals, but few are successfully implemented with fidelity in under-resourced communities and with families from traditionally disenfranchised groups. Implementation science offers tools to increase EBI use in communities, but most implementation strategies are designed specific to a single EBI. It is not feasible to develop a new implementation strategy each time a new EBI is introduced in the community. Therefore, to test the effectiveness and generalizability of implementation strategies we are developing and testing a multifaceted implementation strategy with three EBIs concurrently. The goal of this protocol paper is to describe the randomized field trial of an implementation strategy for use across autism EBIs, diverse settings and participants, with the goal of increasing rapid uptake of effective practices to reach our most vulnerable children. METHODS: We developed a multifaceted implementation strategy called Using Novel Implementation Tools for Evidence-based intervention Delivery (UNITED) to facilitate the implementation and sustainment of three EBIs in under-resourced settings. We will compare fidelity to, and effectiveness of, each intervention [Mind the Gap (MTG), Remaking Recess (RR), Self-Determined Learning Model of Instruction (SDLMI)] with and without UNITED in a randomized field trial. Randomization will be stratified using a minimization allocation method. We will train community practitioners using remote delivery of modules specific to the intervention, and active coaching via Zoom for at least 6 sessions and up to 12 as dictated by each EBI. Our primary outcome is fidelity to each EBI, and our secondary outcome is at the child or family level (family empowerment for MTG, child peer social engagement for RR, and adolescent self-determination for SDLMI, respectively). We will measure progress through the implementation phases using the Stages of Implementation Completion and cost-effectiveness of UNITED. DISCUSSION: The results of this study will provide rigorous data on the effectiveness and generalizability of one relatively light-touch implementation strategy in increasing use of autism EBIs and associated outcomes in diverse under resourced public service settings for underrepresented autistic youth. TRIAL REGISTRATION: Mind the Gap: Clinicaltrials.gov Identifier: NCT04972825 (Date registered July 22, 2021); Remaking Recess: Clinicaltrials.gov Identifier: NCT04972838 (Date registered July 22, 2021); Self-Determined Learning Model of Instruction: Clinicaltrials.gov Identifier: NCT04972851 (Date registered July 22, 2021).

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6. Malwane MI, Nguyen EB, Trejo S, Jr., Kim EY, Cucalón-Calderón JR. A Delayed Diagnosis of Autism Spectrum Disorder in the Setting of Complex Attention Deficit Hyperactivity Disorder. Cureus;2022 (Jun);14(6):e25825.

Autism spectrum disorder (ASD) presents a diagnostic challenge due to its highly heterogeneous nature. The most common clinical manifestations include difficulty with social interaction and the presence of repetitive sensory-motor behaviors. Females are more likely to be misdiagnosed or have a delayed diagnosis compared to males. Other factors that contribute to delayed diagnosis include low socioeconomic status and belonging to an ethnic minority. In pediatrics, the goal of ASD screening is to diagnose ASD earlier, with timely referral to early intervention services, so that better long-term neurodevelopmental outcomes can be achieved. Moreover, attention deficit hyperactivity disorder (ADHD) is the most common comorbidity in patients with ASD. While the Diagnostic and Statistical Manual of Mental Disorders fourth edition (DSM-4) prohibited a co-diagnosis of autism and ADHD, the DSM-5 has modified exclusion criteria to allow such. This case describes a minority adolescent male patient who presented initially with complex ADHD, who upon extensive evaluation, was ultimately diagnosed with co-existing autism. This patient’s diagnosis of ASD at the age of 14 in the setting of a pre-existing complex ADHD diagnosis demonstrates how symptoms of inattention or hyperactivity may convolute underlying or newly emerging social interaction difficulties. We highlight how children who are diagnosed with ADHD should be screened or evaluated for autism in the right clinical setting, such as evident persistence of social interaction impairment despite ADHD treatment.

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7. Peters BC, Pan Z, Christensen H, Gabriels RL. Self-Regulation Mediates Therapeutic Horseback Riding Social Functioning Outcomes in Youth With Autism Spectrum Disorder. Front Pediatr;2022;10:884054.

Emerging evidence suggests therapeutic horseback riding improves self-regulation behaviors, social functioning, and language in youth with autism spectrum disorder (ASD). It has been theorized that interacting with horses is calming for youth with ASD, which may influence social and language outcomes. The current study is an exploratory secondary mediation analysis of a previously published randomized controlled trial of therapeutic horseback riding for youth with ASD. We hypothesized that self-regulation would mediate therapeutic horseback riding’s effect on social and language outcomes in youth with ASD. Results indicate that self-regulation mediates therapeutic horseback riding’s effect on social, but not language outcomes. This paper provides support for the hypothesis that interacting with horses may have a calming effect that serves as a platform for improving social outcomes in youth with autism.

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8. Qin X, Li P, Wu Y, Wang X, Yan S, Xu Y, Zhu P, Hao J, Tao F, Huang K. Impact of caesarean delivery on children’s autism-like behaviours: the mediation of exclusive breastfeeding. Int Breastfeed J;2022 (Jul 15);17(1):53.

BACKGROUND: The rate of autism spectrum disorder (ASD) has been rising worldwide, and therefore it is important to identify potential causes of ASD to facilitate early prevention. This study examined the role of breastfeeding and the association between caesarean delivery (CD) and children’s autism spectrum disorder. METHODS: The data were from the Ma’anshan birth cohort (MABC) in China, that was set up between May 2013 and September 2014. Women within 14 gestational weeks were recruited. The delivery mode was extracted from medical notes and infant feeding was obtained from questionnaire surveys. Autism-like behaviour was assessed using the Checklist for Autism in Toddlers (CHAT-23) when children were 18 months old, and 3 years of age. At 5 years of age, autism-like behaviour was assessed using the Clancy Autism Behavior Scale behavior. Structural equation models tested the mediation effects of breastfeeding between CD and children’s autism spectrum disorder. RESULTS: In all, 1520 (48.89%) women gave birth via CD, and 406 (13.86%) children were identified with autism-like behaviours at 18 months. Compared with women giving birth via vaginal delivery, those giving birth via CD were more likely to experience a higher proportion of delayed initiation of breastfeeding (p < 0.01), and delayed onset of lactogenesis (p < 0.01). CD was associated with a lower proportion of exclusive breastfeeding at 4 months after delivery (p = 0.02). Autism-like behaviour was less likely amongst infants with exclusively breastfeeding at 4 months than amongst those not exclusively breastfeeding at 4 months (p < 0.01). SEM indicated that women who gave birth by CD were more likely to stop exclusive breastfeeding in the first 4 months (standard estimations = - 0.04, p = 0.02), and those children who were not exclusively breastfed at 4 months were more likely to have autism-like behaviours (standard estimations = - 0.05, p < 0.01). The associations persisted at 3 years, but not at 5 years. CONCLUSIONS: Exclusive breastfeeding at 4 months of age mediated the association between caesarean delivery and children's autism-like behaviours.

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9. Sakai A, Omori M, Ueda M. Surgical Management of Pachydermodactyly (PDD) via Midaxial Incision: A Case Report. Cureus;2022 (Jun);14(6):e25802.

Pachydermodactyly (PDD), meaning « thick skin finger » in Greek, is a rare, noninflammatory, benign, superficial fibromatosis. We report the case of PDD in a 15-year-old boy who visited our clinic because of asymptomatic swelling of the proximal interphalangeal (PIP) joints on the third finger of both left and right hands. Physical examination revealed thickening of the skin in the radial and ulnar aspects of the PIP joints of his third finger of both hands without functional limitation or neurological symptoms. He had a habit of biting his swelling fingers, and he belonged to a basketball club at his junior high school. He had no medical history. Plain radiographs and magnetic resonance imaging of both hands showed only soft tissue thickening outside of the radial and ulnar collateral ligament of the bilateral third PIP joint. The lesions were suggestive of PDD. Surgical resection was performed via a midaxial incision and a Z-plasty to confirm the diagnosis and improve the aesthetic appearance of his hands. Histopathological examination of the lesions was compatible with PDD. After surgery on the left hand, the patient underwent the same surgery on the right hand. No recurrence or complications were observed at the one-year follow-up after surgical intervention. Thus, surgery for PDD via a midaxial incision may be a good treatment option for patients who wish to rectify the appearance of their digital deformity.

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10. Tchanturia K. What we can do about Autism and Eating Disorder comorbidity. Eur Eat Disord Rev;2022 (Jul 16)

OBJECTIVE: We are pleased to introduce this special issue about Autism and Feeding and Eating Disorders, representing reflections on this complex comorbidity. METHOD: Contributions focussed on several main themes: (1) the definition and assessment of autism and eating disorder (ED) comorbidity; (2) the brain imaging findings of similarities and differences between autism and EDs; (3) sensory systems and interoception; (4) comorbidity across the age spectrum and (5) improving treatment outcomes in ED and autism comorbidity. RESULTS: The papers in this issue highlight the importance of research, screening and practical adaptations in the field of ED and autism comorbidity. Autism is a neurodevelopmental condition with several strengths and weaknesses. When patients present with this comorbidity, it is important that their ED is treated which requires careful adaptation and tailoring for people with autism. DISCUSSION: This special issue is an attempt to facilitate further research and stimulate collaborations between all of the stakeholders, particularly clinicians who have expertise in autism and clinicians working in the field of ED. We have included diverse themes from international researchers conducting qualitative and quantitative studies, providing research evidence to inform treatment modifications for this complex comorbidity.

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11. Torske T, Nærland T, Quintana DS, Hypher RE, Kaale A, Høyland AL, Hope S, Johannessen J, Øie MG, Andreassen OA. Sex as a Moderator Between Parent Ratings of Executive Dysfunction and Social Difficulties in Children and Adolescents with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jul 15)

Girls and boys might differ in autistic symptoms and associated cognitive difficulties such as executive function (EF). We investigated sex differences in the relationship between parent rated EF and autistic symptoms in 116 children and adolescents (25 girls) aged 5-19 years with an intelligence quotient above 70 and an autism spectrum disorder (ASD) diagnosis. They were rated with the behavior rating inventory of executive function (BRIEF) and the autism diagnostic interview revised (ADI-R). We found a positive association between EF and the ADI-R domains of reciprocal social interaction (p < 0.001) and communication (p = 0.001) in girls, while these relationships were small and non-significant in boys. Our results provide a greater understanding of the sex-specific characteristics of children and adolescents with ASD.

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12. Wu J, Wang D, Yan L, Jia M, Zhang J, Han S, Han J, Wang J, Chen X, Zhang R. Associations of essential element serum concentrations with autism spectrum disorder. Environ Sci Pollut Res Int;2022 (Jul 16)

This case-control study explored the associations between autism spectrum disorder (ASD) and the serum concentration of nine chemical elements in children. The study recruited 92 Chinese children with ASD and 103 typically developing individuals. Serum concentrations of nine chemical elements (calcium, iodine, iron, lithium, magnesium, potassium, selenium, strontium, and zinc) were determined by inductively coupled plasma mass spectrometry (ICP-MS) and inductively coupled plasma atomic emission spectrometry (ICP-AES). An unconditional logistic regression model was used to analyze the associations between the serum concentrations of the elements and the risk of ASD. After adjusting for confounders, the multivariate analysis results showed that zinc ≤ 837.70 ng/mL, potassium > 170.06 μg/mL, and strontium ≤ 52.46 ng/mL were associated with an increased risk of ASD, while selenium > 159.80 ng/mL was associated with a decreased risk of ASD. Furthermore, the degree of lithium and zinc deficiency was associated with ASD severity. The results indicated that metallomic profiles of some specific elements might play important roles in the development of ASD, a finding of scientific significance for understanding the etiology, and providing dietary guidance for certain ASD types.

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13. Yi T, Wei W, Ma D, Wu Y, Cai Q, Jin K, Gao X. Individual Brain Morphological Connectome Indicator Based on Jensen-Shannon Divergence Similarity Estimation for Autism Spectrum Disorder Identification. Front Neurosci;2022;16:952067.

BACKGROUND: Structural magnetic resonance imaging (sMRI) reveals abnormalities in patients with autism spectrum syndrome (ASD). Previous connectome studies of ASD have failed to identify the individual neuroanatomical details in preschool-age individuals. This paper aims to establish an individual morphological connectome method to characterize the connectivity patterns and topological alterations of the individual-level brain connectome and their diagnostic value in patients with ASD. METHODS: Brain sMRI data from 24 patients with ASD and 17 normal controls (NCs) were collected; participants in both groups were aged 24-47 months. By using the Jensen-Shannon Divergence Similarity Estimation (JSSE) method, all participants’s morphological brain network were ascertained. Student’s t-tests were used to extract the most significant features in morphological connection values, global graph measurement, and node graph measurement. RESULTS: The results of global metrics’ analysis showed no statistical significance in the difference between two groups. Brain regions with meaningful properties for consensus connections and nodal metric features are mostly distributed in are predominantly distributed in the basal ganglia, thalamus, and cortical regions spanning the frontal, temporal, and parietal lobes. Consensus connectivity results showed an increase in most of the consensus connections in the frontal, parietal, and thalamic regions of patients with ASD, while there was a decrease in consensus connectivity in the occipital, prefrontal lobe, temporal lobe, and pale regions. The model that combined morphological connectivity, global metrics, and node metric features had optimal performance in identifying patients with ASD, with an accuracy rate of 94.59%. CONCLUSION: The individual brain network indicator based on the JSSE method is an effective indicator for identifying individual-level brain network abnormalities in patients with ASD. The proposed classification method can contribute to the early clinical diagnosis of ASD.

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