Pubmed du 06/04/23

Pubmed du jour

1. Caesar RA, Boyd RN, Cioni G, Ware RS, Doherty J, Jackson MP, Salthouse KL, Colditz PB. Early detection of developmental delay in infants born very preterm or with very low birthweight. Developmental medicine and child neurology. 2023; 65(3): 346-57.

AIM: This study aimed to identify early clinical biomarkers from birth to 16 weeks corrected age to predict typical outcome and developmental delay in infants born very preterm or with very low birthweight. METHOD: A prospective cohort of infants on the Sunshine Coast, Australia, was assessed using the Premie-Neuro Examination, the General Movement Assessment (GMA), the Alberta Infant Motor Scale, and the Infant Sensory Profile 2. At 24 months corrected age, delay was identified using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and Neurosensory Motor Developmental Assessment (NSMDA). RESULTS: One hundred and four infants were recruited; 79 completed outcome assessments (43 females, 36 males; mean gestational age 30 weeks [SD 1 week 6 days], mean birthweight 1346 g [SD 323]). The incidence of developmental delay (motor or cognitive) was 6.3%. Suboptimal quality of fidgety general movements (temporal organization) at 16 weeks corrected age demonstrated the best predictive accuracy (Bayley-III motor: sensitivity 100% [95% confidence interval {CI} 3-100], specificity 75% [95% CI 63-84], area under the curve [AUC] 0.87); Bayley-III cognitive: sensitivity 100% [95% CI 3-100], specificity 75% [95% CI 64-84], AUC 0.88); NSMDA motor: sensitivity 100% [95% CI 40-100], specificity 81% [95% CI 70-90], AUC 0.91 [95% CI 0.86-0.95]). GMA trajectories that combined abnormal writhing general movements at 4 to 5 weeks corrected age with suboptimal quality of fidgety movement at 16 weeks corrected age were strongly predictive of developmental delay, superior to all other clinical tools, and perinatal and demographic variables investigated (p = 0.01, Akaike information criterion method 18.79 [score corrected for small sample size], accounting for 93% of the cumulative weight). INTERPRETATION: Only the GMA had sufficient predictive validity to act as a biomarker for both conditions: typical outcome and developmental delay (motor or cognitive). GMA trajectories that assessed both writhing general movements at 4 to 5 weeks corrected age and quality of fidgety movement at 16 weeks corrected age predicted adverse neurodevelopmental outcome, accurately differentiating between infants with typical outcomes and those at increased risk for motor or cognitive delay.

Lien vers le texte intégral (Open Access ou abonnement)

2. Chamtouri M, Merghni A, Salazar N, Redruello B, Gaddour N, Mastouri M, Arboleya S, de Los Reyes-Gavilán CG. An Overview on Fecal Profiles of Amino Acids and Related Amino-Derived Compounds in Children with Autism Spectrum Disorder in Tunisia. Molecules (Basel, Switzerland). 2023; 28(7).

Autism spectrum disorder (ASD) is a neurodevelopmental pathology characterized by the impairment of social interaction, difficulties in communication, and repetitive behaviors. Alterations in the metabolism of amino acids have been reported. We performed a chromatographic analysis of fecal amino acids, ammonium, biogenic amines, and gamma aminobutyric acid (GABA) in Tunisian autistic children from 4 to 10 years, and results were compared with their siblings (SIB) and children from the general population (GP). ASD presented significantly higher levels of fecal amino acids than SIB and GP; differences being more pronounced in younger (4-7 years) than in older (8-10 years) individuals whereas no changes were found for the remaining compounds. Lower levels of histidine were the only difference related with severe symptoms of autism (CARS scale). A linear discriminant analysis (LDA) based on fecal amino acid profiles clearly separated ASD, SIB, and GP at 4 to 7 years but not at more advanced age (8-10 years), evidencing more pronounced alterations in younger children. The relationship of fecal amino acids with autism needs deeper research integrating blood analytical parameters, brain metabolism, and intestinal microbiota. Fecal amino acids could be targeted for designing personalized diets to prevent or minimize cognitive impairments associated with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

3. Cho S, Cola M, Knox A, Pelella MR, Russell A, Hauptmann A, Covello M, Cieri C, Liberman M, Schultz RT, Parish-Morris J. Sex differences in the temporal dynamics of autistic children’s natural conversations. Molecular autism. 2023; 14(1): 13.

BACKGROUND: Autistic girls are underdiagnosed compared to autistic boys, even when they experience similar clinical impact. Research suggests that girls present with distinct symptom profiles across a variety of domains, such as language, which may contribute to their underdiagnosis. In this study, we examine sex differences in the temporal dynamics of natural conversations between naïve adult confederates and school-aged children with or without autism, with the goal of improving our understanding of conversational behavior in autistic girls and ultimately improving identification. METHODS: Forty-five school-aged children with autism (29 boys and 16 girls) and 47 non-autistic/neurotypical (NT) children (23 boys and 24 girls) engaged in a 5-min « get-to-know-you » conversation with a young adult confederate that was unaware of children’s diagnostic status. Groups were matched on IQ estimates. Recordings were time-aligned and orthographically transcribed by trained annotators. Several speech and pause measures were calculated. Groups were compared using analysis of covariance models, controlling for age. RESULTS: Autistic girls used significantly more words than autistic boys, and produced longer speech segments than all other groups. Autistic boys spoke more slowly than NT children, whereas autistic girls did not differ from NT children in total word counts or speaking rate. Autistic boys interrupted confederates’ speech less often and produced longer between-turn pauses (i.e., responded more slowly when it was their turn) compared to other children. Within-turn pause duration did not differ by group. LIMITATIONS: Our sample included verbally fluent children and adolescents aged 6-15 years, so our study results may not replicate in samples of younger children, adults, and individuals who are not verbally fluent. The results of this relatively small study, while compelling, should be interpreted with caution and replicated in a larger sample. CONCLUSION: This study investigated the temporal dynamics of everyday conversations and demonstrated that autistic girls and boys have distinct natural language profiles. Specifying differences in verbal communication lays the groundwork for the development of sensitive screening and diagnostic tools to more accurately identify autistic girls, and could inform future personalized interventions that improve short- and long-term social communication outcomes for all autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

4. Coskunpinar EM, Tur S, Cevher Binici N, Yazan Songür C. Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. Gene. 2023; 870: 147399.

Autism spectrum disorder (ASD) is a neurodevelopmental and neurobehavioral disorder characterized by impaired social communication, repetitive and restricted patterns of behavior, activity, or interest, and altered emotional processing. Reported prevalence is 4 times higher in men and it has increased in recent years. Immunological, environmental, epigenetic, and genetic factors play a role in the pathophysiology of autism. Many neurochemical pathways and neuroanatomical events are effective in determining the disease. It is still unclear how the main symptoms of autism occur because of this complex and heterogeneous situation. In this study, we focused on gamma amino butyric acid (GABA) and serotonin, which are thought to contribute to the etiology of autism; it is aimed to elucidate the mechanism of the disease by investigating variant changes in the GABA receptor subunit genes GABRB3, GABRG3 and the HTR2A gene, which encodes one of the serotonin receptors. 200 patients with ASD between the ages of 3-9 and 100 healthy volunteers were included in the study. Genomic DNA isolation was performed from peripheral blood samples taken from volunteers. Genotyping was performed using the RFLP method with PCR specific for specific variants. Data were analyzed with SPSS v25.0 program. According to the data obtained in our study; In terms of HTR2A (rs6313 T102C) genotypes, the homozygous C genotype carrying frequency in the patient group and the homozygous T genotype carrying frequency in the GABRG3 (rs140679 C/T) genotypes were found to be significantly higher in the patient group compared to the control group (*p: 0.0001, p: 0.0001). It was determined that the frequency of individuals with homozygous genotype was significantly higher in the patient group compared to the control group and having homozygous genotypes increased the disease risk approximately 1.8 times. In terms of GABRB3 (rs2081648 T/C) genotypes, it was determined that there was no statistically significant difference in the frequency of carrying homozygous C genotype in the patient group compared to the control group (p: 0.36). According to the results of our study, we think that the HTR2A (rs6313 T102C) polymorphism is effective in modulating the empathic and autistic characteristics of individuals, and that the HTR2A (rs6313 T102C) polymorphism is more distributed in the post-synaptic membranes in individuals with a higher number of C alleles. We believe that this situation can be attributed to the spontaneous stimulatory distribution of the HTR2A gene in the postsynaptic membranes because of T102C transformation. In genetically based autism cases, carrying the point mutation in the rs6313 variant of the HTR2A gene and the C allele and the point mutation in the rs140679 variant of the GABRG3 gene and accordingly carrying the T allele provide a predisposition to the disease.

Lien vers le texte intégral (Open Access ou abonnement)

5. Davis A, Van Eck K, Copeland-Linder N, Phuong K, Belcher HME. Hospitalization and Mortality for Insured Patients in the United States with COVID-19 with and without Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023: 1-8.

Autism spectrum disorder (ASD) is a neuropsychiatric condition that may be associated with negative health outcomes. This retrospective cohort study reveals the odds of hospitalization and mortality based on ASD for a population of insured patients with COVID-19. The odds of hospitalization and mortality for people with ASD were found to be greater than individuals without ASD when adjusted for sociodemographic characteristics. Hospitalization and mortality was associated with a dose-response increase to comorbidity counts (1 to 5+). Odds of mortality remained greater for those with ASD when adjusting for comorbid health conditions. ASD is a risk factor for COVID-19 mortality. Comorbid health conditions play a particular role in increasing the odds of COVID-19 related hospitalization and death for ASD patients.

Lien vers le texte intégral (Open Access ou abonnement)

6. Farzan M, Farzan M, Amini-Khoei H, Shahrani M, Bijad E, Anjomshoa M, Shabani S. Protective effects of vanillic acid on autistic-like behaviors in a rat model of maternal separation stress: Behavioral, electrophysiological, molecular and histopathological alterations. International immunopharmacology. 2023; 118: 110112.

Compounds derived from herbs exhibit a range of biological properties, including anti-inflammatory, antioxidant, and neuroprotective properties. However, the exact mechanism of action of these compounds in various neurological disorders is not fully discovered yet. Herein, the present work detected the effect of Vanillic acid (VA), a widely-used flavoring agent derived from vanillin, on autistic-like behaviors to assess the probable underlying mechanisms that mediate behavioral, electrophysiological, molecular, and histopathological alterations in the rat model of maternal separation (MS) stress. Maternal separated rats were treated with VA (25, 50, and 100 mg/kg interperitoneally for 14 days). In addition, anxiety-like, autistic-like behaviors, and learning and memory impairment were evaluated using various behavioral tests. Hippocampus samples were assessed histopathologically by H&E staining. Levels of malondialdehyde (MDA) and antioxidant capacity (by the FRAP method), as well as nitrite levels, were measured in brain tissue. Moreover, gene expression of inflammatory markers (IL-1β, TLR-4, TNF-α, and NLRP3) was evaluated in the hippocampus. Electrophysiological alterations were also estimated in the hippocampus by long-term potentiation (LTP) assessments. Results showed that VA reversed the negative effects of MS on behavior. VA increased the diameter and decreased the percentage of dark neurons in the CA3 area. Accordingly, VA decreased MDA and nitrite levels and increased the antioxidant capacity in brain samples and decreased the expression of all inflammatory genes. VA treated rats showed significant improvements in all LTP parameters. This study provided evidence suggesting a possible role for VA in preventing autism spectrum disorder (ASD) by regulating immune signaling.

Lien vers le texte intégral (Open Access ou abonnement)

7. Frazier TW, Whitehouse AJO, Leekam SR, Carrington SJ, Alvares GA, Evans DW, Hardan AY, Uljarević M. Reliability of the Commonly Used and Newly-Developed Autism Measures. Journal of autism and developmental disorders. 2023.

PURPOSE: The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments. METHODS: When available, data sets were combined to facilitate large sample evaluation. Scale reliability (internal consistency, average corrected item-total correlations, and model reliability) and conditional reliability estimates were computed for total scores and for measure subscales. RESULTS: Generally good to excellent scale reliability was observed for total scores for all measures, scale reliability was weaker for RRB subscales of the ADOS and ADI-R, reflecting the relatively small number of items for these measures. For diagnostic measures, conditional reliability tended to be very good (> 0.80) in the regions of the latent trait where ASD and non-ASD developmental disability cases would be differentiated. For parent-report scales, conditional reliability of total scores tended to be excellent (> 0.90) across very wide ranges of autism symptom levels, with a few notable exceptions. CONCLUSIONS: These findings support the use of all of the clinical observation, interview, and parent-report autism symptom measures examined, but also suggest specific limitations that warrant consideration when choosing measures for specific clinical or research applications.

Lien vers le texte intégral (Open Access ou abonnement)

8. Gosling CJ, Cartigny A, Stevanovic D, Moutier S, Delorme R, Attwood T. Known-groups and convergent validity of the theory of mind task battery in children with autism spectrum disorder. The British journal of clinical psychology. 2023.

OBJECTIVES: One of the most promising Theory of Mind (ToM) tests developed for children with ASD is the Theory of Mind Task Battery (ToM-TB). Still, additional psychometric properties of this tool need to be assessed. The main objective of this preregistered study was to investigate the known-groups and convergent validities of the ToM-TB compared to a well-established test used to assess ToM in children with ASD (the Strange Stories Test; SST). METHODS: A total of 68 school-aged children were recruited (34 children with ASD and 34 children with typical development). The groups were matched on sex and age, and on both receptive language abilities and overall cognitive functioning. RESULTS: Regarding the known-groups validity, we found group differences in the performance on the ToM-TB and SST. Additional analyses revealed that this result tended to be more robust for the ToM-TB than for the SST. Regarding convergent validity, we showed that the ToM-TB and SST correlated strongly, for children with ASD and children with typical development. In contrast, we found small correlations of these two tests with social competence in daily life. No evidence was found for greater known-groups or convergent validity of one test compared to the other. CONCLUSION: Our data confirmed the relevance of the ToM-TB and the SST for the assessment of ToM in school-aged children. Future studies should continue to assess the psychometric qualities of various ToM tests to provide reliable information to best guide researchers and clinicians when choosing optimal neuropsychological tools.

Lien vers le texte intégral (Open Access ou abonnement)

9. Greenlee JL, Stelter CR, Hickey E, Burton C, Carlson M, Winter MA. Using the Three-Minute Speech Sample to Examine the Parent-Adolescent Relationship in Autistic Youth: A Qualitative Analysis. Journal of autism and developmental disorders. 2023.

PURPOSE: This qualitative study examines autistic adolescents’ perception of the quality of their relationship with their parent using the Three Minute Speech Sample. METHODS: Twenty autistic youth (13-17 years; 83% male) spoke, uninterrupted, for three minutes about their thoughts and feelings regarding their mothers. Audio-recorded speech samples were transcribed and coded for emergent themes. RESULTS: Adolescents highlighted emotional support and acceptance in the context of their relationship, support mothers provide for mental health, love and caring, efforts to build the relationship through shared activities, and areas of adolescent-parent conflict. CONCLUSION: The TMSS is a low cost, low burden method by which autistic adolescents can comfortably and effectively self-report the quality of their relationship with their parent/caregiver.

Lien vers le texte intégral (Open Access ou abonnement)

10. Guerra M, Medici V, Weatheritt R, Corvino V, Palacios D, Geloso MC, Farini D, Sette C. Fetal exposure to valproic acid dysregulates the expression of autism-linked genes in the developing cerebellum. Translational psychiatry. 2023; 13(1): 114.

Autism spectrum disorder (ASD) includes a set of highly heritable neurodevelopmental syndromes characterized by social and communication impairment, repetitive behaviour, and intellectual disability. Although mutations in multiple genes have been associated to ASD, most patients lack detectable genetic alterations. For this reason, environmental factors are commonly thought to also contribute to ASD aetiology. Transcriptome analyses have revealed that autistic brains possess distinct gene expression signatures, whose elucidation can provide insights about the mechanisms underlying the effects of ASD-causing genetic and environmental factors. Herein, we have identified a coordinated and temporally regulated programme of gene expression in the post-natal development of cerebellum, a brain area whose defects are strongly associated with ASD. Notably, this cerebellar developmental programme is significantly enriched in ASD-linked genes. Clustering analyses highlighted six different patterns of gene expression modulated during cerebellar development, with most of them being enriched in functional processes that are frequently dysregulated in ASD. By using the valproic acid mouse model of ASD, we found that ASD-linked genes are dysregulated in the developing cerebellum of ASD-like mice, a defect that correlates with impaired social behaviour and altered cerebellar cortical morphology. Moreover, changes in transcript levels were reflected in aberrant protein expression, indicating the functional relevance of these alterations. Thus, our work uncovers a complex ASD-related transcriptional programme regulated during cerebellar development and highlight genes whose expression is dysregulated in this brain area of an ASD mouse model.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hwang G, Wen J, Sotardi S, Brodkin ES, Chand GB, Dwyer DB, Erus G, Doshi J, Singhal P, Srinivasan D, Varol E, Sotiras A, Dazzan P, Kahn RS, Schnack HG, Zanetti MV, Meisenzahl E, Busatto GF, Crespo-Facorro B, Pantelis C, Wood SJ, Zhuo C, Shinohara RT, Shou H, Fan Y, Di Martino A, Koutsouleris N, Gur RE, Gur RC, Satterthwaite TD, Wolf DH, Davatzikos C. Assessment of Neuroanatomical Endophenotypes of Autism Spectrum Disorder and Association With Characteristics of Individuals With Schizophrenia and the General Population. JAMA psychiatry. 2023.

IMPORTANCE: Autism spectrum disorder (ASD) is associated with significant clinical, neuroanatomical, and genetic heterogeneity that limits precision diagnostics and treatment. OBJECTIVE: To assess distinct neuroanatomical dimensions of ASD using novel semisupervised machine learning methods and to test whether the dimensions can serve as endophenotypes also in non-ASD populations. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used imaging data from the publicly available Autism Brain Imaging Data Exchange (ABIDE) repositories as the discovery cohort. The ABIDE sample included individuals diagnosed with ASD aged between 16 and 64 years and age- and sex-match typically developing individuals. Validation cohorts included individuals with schizophrenia from the Psychosis Heterogeneity Evaluated via Dimensional Neuroimaging (PHENOM) consortium and individuals from the UK Biobank to represent the general population. The multisite discovery cohort included 16 internationally distributed imaging sites. Analyses were performed between March 2021 and March 2022. MAIN OUTCOMES AND MEASURES: The trained semisupervised heterogeneity through discriminative analysis models were tested for reproducibility using extensive cross-validations. It was then applied to individuals from the PHENOM and the UK Biobank. It was hypothesized that neuroanatomical dimensions of ASD would display distinct clinical and genetic profiles and would be prominent also in non-ASD populations. RESULTS: Heterogeneity through discriminative analysis models trained on T1-weighted brain magnetic resonance images of 307 individuals with ASD (mean [SD] age, 25.4 [9.8] years; 273 [88.9%] male) and 362 typically developing control individuals (mean [SD] age, 25.8 [8.9] years; 309 [85.4%] male) revealed that a 3-dimensional scheme was optimal to capture the ASD neuroanatomy. The first dimension (A1: aginglike) was associated with smaller brain volume, lower cognitive function, and aging-related genetic variants (FOXO3; Z = 4.65; P = 1.62 × 10-6). The second dimension (A2: schizophrenialike) was characterized by enlarged subcortical volumes, antipsychotic medication use (Cohen d = 0.65; false discovery rate-adjusted P = .048), partially overlapping genetic, neuroanatomical characteristics to schizophrenia (n = 307), and significant genetic heritability estimates in the general population (n = 14 786; mean [SD] h2, 0.71 [0.04]; P < 1 × 10-4). The third dimension (A3: typical ASD) was distinguished by enlarged cortical volumes, high nonverbal cognitive performance, and biological pathways implicating brain development and abnormal apoptosis (mean [SD] β, 0.83 [0.02]; P = 4.22 × 10-6). CONCLUSIONS AND RELEVANCE: This cross-sectional study discovered 3-dimensional endophenotypic representation that may elucidate the heterogeneous neurobiological underpinnings of ASD to support precision diagnostics. The significant correspondence between A2 and schizophrenia indicates a possibility of identifying common biological mechanisms across the 2 mental health diagnoses.

Lien vers le texte intégral (Open Access ou abonnement)

12. Joginder Singh S, Loo ZL. The use of augmentative and alternative communication by children with developmental disability in the classroom: a case study. Disability and rehabilitation Assistive technology. 2023: 1-9.

PURPOSE: Augmentative and alternative communication (AAC) systems are often introduced to children with disabilities who demonstrate complex communication needs. As attending school is an essential part of these children’s lives, it is important that they use their AAC system to communicate in the classroom. This study aimed to describe the nature of the use of AAC by students with developmental disabilities in the classroom. MATERIALS AND METHOD: This study was conducted in Malaysia. Six students were observed twice each in their classroom and their classroom interactions were video recorded. The video recordings were transcribed and coded for the presence of a communication event, the student’s mode of communication and communication function, the communication partner involved, and access to the AAC system. RESULTS: Contrary to past studies, most students in this study spontaneously initiated interaction almost as many times as they responded. They primarily communicated with gestures and verbalizations/vocalizations despite having been introduced to an AAC system. When students communicated using their AAC system, they mainly interacted with the teachers, and for the function of either behavioral regulation or joint attention. It was found that for 39% of communicative events, the student’s aided AAC system was not within arm’s reach. CONCLUSION: The findings highlight the need for efforts to encourage students with complex communication needs to use AAC more frequently in their classroom to be able to communicate more effectively and for a wider range of communicative functions. Speech-language pathologists can work closely with teachers to provide the necessary support to these students. Speech-language pathologists (SLPs) can provide ongoing support to school teachers to equip them with the necessary knowledge and skills to support the use of augmentative and alternative communication (AAC) in the classroom.SLPs can also focus on teaching students to use AAC for a variety of communication functions and with various partners rather than only adult communication partners. eng.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kim SA, Kasari C. Brief Report: Longitudinal Trajectory of Working Memory in School-Aged Children on the Autism Spectrum: Period of High Plasticity and « Late Bloomers ». Journal of autism and developmental disorders. 2023.

PURPOSE: While working memory (WM) is a powerful predictor for children’s school outcomes, autistic children are more likely to experience delays. This study compared autistic children and their neurotypical peers’ WM development over their elementary school years, including relative growth and period of plasticity. METHODS: Using a nationally-representative dataset, latent growth models were built to examine periods of high plasticity and the relationship between children’s performance upon school entry and their relative growth. RESULTS: While both groups made steeper gains during the early school years, autistic children’s period of highest plasticity was prolonged by 1 year, which suggests a larger window for interventions. Further, autistic children who started kindergarten with poorer WM were more likely to make rapid growth during the last 3 years of elementary school, which is when their neurotypical peers’ development started to plateau. CONCLUSION: Findings should prompt various stakeholders to examine interventions and instructions to maximize autistic children’s growth in WM. Further, the continued support and monitoring by educators throughout autistic children’s late childhood can be particularly beneficial for the « late-bloomers. ».

Lien vers le texte intégral (Open Access ou abonnement)

14. Kimura H, Kishi S, Narita H, Tanaka T, Okada T, Fujisawa D, Sugita N, Noma S, Matsumoto Y, Ohashi A, Mitsuyasu H, Yoshida K, Kawasaki H, Nishimura K, Ogura Y, Ozaki N. Comorbid psychiatric disorders and long-term survival after liver transplantation in transplant facilities with a psychiatric consultation-liaison team: a multicenter retrospective study. BMC gastroenterology. 2023; 23(1): 106.

OBJECTIVE: Comorbid psychiatric disorders negatively affect the survival rate of patients with some physical disorders. In liver transplant recipients, various psychiatric disorders have been identified as worsening prognosis. However, little is known about how the presence of any comorbid (overall) disorders affect the survival rate of transplant recipients. In this study, we examined the effect of overall comorbid psychiatric disorders on survival rate in liver transplant recipients. METHODS: A total of 1006 recipients who underwent liver transplantation between September 1997 and July 2017 across eight transplant facilities with a psychiatric consultation-liaison team were identified consecutively. Recipients were categorized into those with comorbid psychiatric disorders and those without comorbid psychiatric disorders. In the comorbid psychiatric disorder group, psychiatric disorder diagnosis and time of diagnosis were investigated retrospectively. RESULTS: Of the 1006 recipients, 294 (29.2%) had comorbid psychiatric disorders. Comorbid psychiatric disorders in the 1006 recipients were insomnia (N = 107, 10.6%), delirium (N = 103, 10.2%), major depressive disorder (N = 41, 4.1%), adjustment disorder (N = 19, 1.9%), anxiety disorder (N = 17, 1.7%), intellectual disability (N = 11, 1.1%), autism spectrum disorder (N = 7, 0.7%), somatic symptom disorder (N = 4, 0.4%) schizophrenia (N = 4, 0.4%), substance use disorder (N = 24, 2.4%) and personality disorder (N = 2, 0.2%). The most common time of psychiatric disorder diagnosis was within the first 3 months after liver transplantation (51.6%). The final mortality in patients with comorbid psychiatric disorder diagnosis during the five periods (pretransplant, transplant to 3 months, months to 1 year, 1 to 3 years, and over 3 years posttransplant) was 16.2%, 18.8%, 39.1%, 28.6%, and 16.2% respectively, and there were no significant differences between the five periods (χ2 = 8.05, df = 4, p = 0.09). Overall comorbid psychiatric disorders were significantly associated with shorter survival time (log-rank test: p = 0.01, hazard ratio: 1.59 [95% confidence interval: 1.14-2.21], survival rate at the endpoint [%]: 62.0 vs. 83.3). However, after adjusting for confounding variables using Cox proportional hazards regression, there was no significant effect of overall comorbid psychiatric disorders on prognosis. CONCLUSION: Comorbid psychiatric disorders did not affect the survival rate of liver transplant recipients in this study.

Lien vers le texte intégral (Open Access ou abonnement)

15. Kriegel G, Paul S, Leonard KH, Sandor P. Prevalence of Autism Spectrum Disorder (ASD) in Inpatient Adolescent Psychiatric Population. Journal of autism and developmental disorders. 2023.

The prevalence of autism spectrum disorder (ASD) has increased in recent decades, much of which is related to changes in diagnostic criteria, and greater awareness among professionals and parents. Using a prospective cross-sectional study design, this study explores the prevalence of ASD among 173 adolescents admitted to two psychiatric facilities in Canada, and its association with some early pre and perinatal risk factors. The overall prevalence of ASD in the psychiatric population was 11.56% compared to 1.52% in children and youth in Canada. While prenatal and perinatal factors were not significantly associated with ASD, we found a frequent association of ASD with different comorbid psychiatric conditions. These findings further our knowledge in planning and management of ASD among this population.

Lien vers le texte intégral (Open Access ou abonnement)

16. Liu X, Wu J, Li W, Liu Q, Tian L, Huang H. Domain Adaptation via Low Rank and Class Discriminative Representation for Autism Spectrum Disorder identification: A Multi-site fMRI Study. IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 2023; Pp.

To construct a more effective model with good generalization performance for inter-site autism spectrum disorder (ASD) diagnosis, domain adaptation based ASD diagnostic models are proposed to alleviate the inter-site heterogeneity. However, most existing methods only reduce the marginal distribution difference without considering class discriminative information, and are difficult to achieve satisfactory results. In this paper, we propose a low rank and class discriminative representation (LRCDR) based multi-source unsupervised domain adaptation method to reduce the marginal and conditional distribution differences synchronously for improving ASD identification. Specifically, LRCDR adopts low rank representation to alleviate the marginal distribution difference between domains by aligning the global structure of the projected multi-site data. To reduce the conditional distribution difference of data from all sites, LRCDR learns the class discriminative representation of data from multiple source domains and the target domain to enhance the intra-class compactness and inter-class separability of the projected data. For inter-site prediction on all ABIDE data (1102 subjects from 17 sites), LRCDR obtains the mean accuracy of 73.1%, superior to the results of the compared state-of-the-art domain adaptation methods and multi-site ASD identification methods. In addition, we locate some meaningful biomarkers: Most of the top important biomarkers are inter-network resting-state functional connectivities (RSFCs). The proposed LRCDR method can effectively improve the identification of ASD, which has great potential as a clinical diagnostic tool.

Lien vers le texte intégral (Open Access ou abonnement)

17. Locke J, Osuna A, Myrvold RJ, Closson JS. Supporting Autistic College Students: Examining the Mentoring, Organization and Social Support for Autism Inclusion on Campus (MOSSAIC) Program. Journal of autism and developmental disorders. 2023.

Recent trends suggest that autistic young adults are increasingly accessing postsecondary education than in years past. However, these students often face unique challenges that negatively impact their college experience resulting in high dropout. The Mentoring, Organization and Social Support for Autism Inclusion on Campus (MOSSAIC) Program is a peer-mentorship college transition program intended to support autistic students with executive functioning, social, and self-advocacy skills. This study investigated the experiences of 13 autistic mentees and 12 non-autistic mentors enrolled in the MOSSAIC program. Program feedback was collected using semi-structured interviews in order to understand student experiences, highlight benefits, and identify areas of improvement. Participants reported a general positive experience and improved skills in the domains of socialization, executive functioning, academic performance, and professional development. The most common suggestion for the program was the inclusion of autistic peer mentors. Mentees noted difficulty relating with non-autistic peers and feeling burdened with the need to educate their mentor on how to support autistic adults. These data provide valuable insight into how colleges can better improve support for autistic college students to ensure postsecondary success. Future peer mentorship programs should consider recruiting neurodiverse mentors from diverse backgrounds to improve congruence between mentor and mentee identities.

Lien vers le texte intégral (Open Access ou abonnement)

18. Muniandy M, Richdale AL, Arnold SRC, Trollor JN, Lawson LP. Brief Report: Longitudinal Role of Coping Strategies on Mental Health Outcomes in Autistic Youth and Adults. Journal of autism and developmental disorders. 2023.

The stress literature suggests that coping strategies are implicated in mental health outcomes. However, the longitudinal relationship between coping strategies and mental health in the autistic adult population has not yet been examined. This 2-year longitudinal study examined the predictive role of both baseline and change in coping strategy use over time (i.e., an increase or decrease) on anxiety, depression, and well-being after 2-years in 87 autistic adults aged 16 to 80 years. Controlling for baseline mental health, both baseline and increase in disengagement coping strategies (e.g., denial, self-blame) predicted higher anxiety and depression, and lower well-being, while an increase in engagement coping strategies (e.g., problem solving, acceptance) predicted higher well-being. These findings extend the current coping literature in autistic adults, offering insight into mental health support and intervention options.

Lien vers le texte intégral (Open Access ou abonnement)

19. Murthi K, Patten K. Improving Executive Functions Using the Engineering Design Process: A Peer-Mediated Problem-Solving Approach for Autistic Adolescents. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

Executive functions-specifically, problem-solving skills-are crucial for school success. Challenges in these functions faced by autistic adolescents are often unrecognized or viewed through a behavioral lens that requires correction or normalization. A lack of development of higher order problem-solving skills leads to increased instances of secondary mental health issues, creating further behavioral and social challenges. We propose using the Engineering Design Process (EDP), a flexible, cyclical, top-down, self-sustaining approach that uses peer mediation to teach group problem-solving skills. We then position this cycle within existing occupational therapy models to demonstrate its adaptability and flexibility, describe the distinct features of this problem-solving strategy, and present a real-world case study in which the EDP is used as a problem-solving approach in an after-school program. The EDP develops crucial social and interpersonal skills using interest-driven occupations and can be organically used as a group strategy. This article uses the identity-first language autistic people. This nonableist language describes their strengths and abilities and is a conscious decision. This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021, Kenny et al., 2016).

Lien vers le texte intégral (Open Access ou abonnement)

20. Rodrigues DC, Mufteev M, Yuki KE, Narula A, Wei W, Piekna A, Liu J, Pasceri P, Rissland OS, Wilson MD, Ellis J. Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models. Nature communications. 2023; 14(1): 1896.

Transcriptional changes in Rett syndrome (RTT) are assumed to directly correlate with steady-state mRNA levels, but limited evidence in mice suggests that changes in transcription can be compensated by post-transcriptional regulation. We measure transcription rate and mRNA half-life changes in RTT patient neurons using RATEseq, and re-interpret nuclear and whole-cell RNAseq from Mecp2 mice. Genes are dysregulated by changing transcription rate or half-life and are buffered when both change. We utilized classifier models to predict the direction of transcription rate changes and find that combined frequencies of three dinucleotides are better predictors than CA and CG. MicroRNA and RNA-binding Protein (RBP) motifs are enriched in 3’UTRs of genes with half-life changes. Nuclear RBP motifs are enriched on buffered genes with increased transcription rate. We identify post-transcriptional mechanisms in humans and mice that alter half-life or buffer transcription rate changes when a transcriptional modulator gene is mutated in a neurodevelopmental disorder.

Lien vers le texte intégral (Open Access ou abonnement)

21. Segal L, Green J, Twizeyemariya A, Hudry K, Wan MW, Barbaro J, Iacono T, Varcin KJ, Pillar S, Cooper MN, Billingham W, Upson G, Whitehouse AJO. Estimated Therapy Costs and Downstream Cost Consequences of iBASIS-Video Interaction to Promote Positive Parenting Intervention vs Usual Care Among Children Displaying Early Behavioral Signs of Autism in Australia. JAMA network open. 2023; 6(4): e235847.

IMPORTANCE: The growing global prevalence of autism spectrum disorder (ASD) is associated with increasing costs for support services. Ascertaining the effects of a successful preemptive intervention for infants showing early behavioral signs of autism on human services budgets is highly policy relevant. OBJECTIVE: To estimate the net cost impact of the iBASIS-Video Interaction to Promote Positive Parenting (iBASIS-VIPP) intervention on the Australian government. DESIGN, SETTING, AND PARTICIPANTS: Infants (aged 12 months) showing early behavioral indicators of autism were recruited through community settings into the multicenter Australian iBASIS-VIPP randomized clinical trial (RCT), a 5- to 6-month preemptive parent-mediated intervention, between June 9, 2016, and March 30, 2018, and were followed up for 18 months to age 3 years. This economic evaluation, including cost analysis (intervention and cost consequences) and cost-effectiveness analyses of iBASIS-VIPP compared with usual care (treatment as usual [TAU]), modeled outcomes observed at age 3 through to 12 years (13th birthday) and was conducted from April 1, 2021, to January 30, 2023. Data analysis was conducted from July 1, 2021, to January 29, 2023. EXPOSURES: iBASIS-VIPP intervention. MAIN OUTCOMES AND MEASURES: To project the diagnostic trajectory and associated disability support costs drawing on the Australian National Disability Insurance Scheme (NDIS), the main outcome was the differential treatment cost of iBASIS-VIPP plus TAU vs TAU and disability-related government costs modeled to age 12 years, using a clinical diagnosis of ASD and developmental delay (with autism traits) at 3 years. Costs were calculated in Australian dollars and converted to US dollars. Economic performance was measured through the following: (1) differential net present value (NPV) cost (iBASIS-VIPP less TAU), (2) investment return (dollars saved for each dollar invested, taking a third-party payer perspective), (3) break-even age when treatment cost was offset by downstream cost savings, and (4) cost-effectiveness in terms of the differential treatment cost per differential ASD diagnosis at age 3 years. Alternate values of key parameters were modeled in 1-way and probabilistic sensitivity analysis, the latter identifying the likelihood of an NPV cost savings. RESULTS: Of the 103 infants enrolled in the iBASIS-VIPP RCT, 70 (68.0%) were boys. Follow-up data at age 3 years were available for 89 children who received TAU (44 [49.4%]) or iBASIS-VIPP (45 [50.6%]) and were included in this analysis. The estimated mean differential treatment cost was A $5131 (US $3607) per child  for iBASIS-VIPP less TAU. The best estimate of NPV cost savings was A $10 695 (US $7519) per child (discounted at 3% per annum). For each dollar invested in treatment, a savings of A $3.08 (US $3.08) was estimated; the break-even cost occurred at age 5.3 years (approximately 4 years after intervention delivery). The mean differential treatment cost per lower incident case of ASD was A $37 181 (US $26 138). We estimated that there was an 88.9% chance that iBASIS-VIPP would deliver a cost savings for the NDIS, the dominant third-party payer. CONCLUSIONS AND RELEVANCE: The results of this study suggest that iBASIS-VIPP represents a likely good-value societal investment for supporting neurodivergent children. The estimated net cost savings were considered conservative, as they covered only third-party payer costs incurred by the NDIS and outcomes were modeled to just age 12 years. These findings further suggest that preemptive interventions may be a feasible, effective, and efficient new clinical pathway for ASD, reducing disability and the costs of support services. Long-term follow-up of children receiving preemptive intervention is needed to confirm the modeled results.

Lien vers le texte intégral (Open Access ou abonnement)

22. Simpson K, Adams D, Malone S, Tucker M, Rapee RM, Rodgers J. A Parent-Mediated Anxiety Intervention Specifically Tailored for Autistic Preschoolers: A Pilot Study. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Autistic children experience reduced participation in life activities. One factor that may contribute to their reduced levels of participation is anxiety, which is identified at higher rates among young autistic children than among their neurotypical peers. Anxiety is also strongly associated with sensory overresponsivity and has a considerable impact on daily functioning. OBJECTIVE: To determine the feasibility, acceptability, and usefulness of a small-group, parent-mediated intervention to prevent and reduce anxiety. DESIGN: Pre-post. SETTING: University research center. PARTICIPANTS: Three parents of autistic children (ages 4-7 yr). OUTCOMES AND MEASURES: Parents completed a six-session group training program. Parents completed an anxiety scale for their child before and after parent training. At the end of training, parents participated in a focus group and were interviewed 4 mo after training. RESULTS: Positively received aspects of the intervention were the benefits of a small group, composed of parents of autistic children, run by a facilitator with expertise in autism and anxiety. Parents gained knowledge, resulting in « taking a different approach » with their child and « seeing an interplay between anxiety and autism. » After the intervention, parents reported a reduction in children’s reported anxiety levels. CONCLUSIONS AND RELEVANCE: Knowledge of autism and anxiety acquired during a parent-mediated group increased parents’ understanding of their child’s behaviors and assisted them in supporting their child’s participation. Further research, including larger studies, is required to determine the effectiveness of this intervention. What This Article Adds: The findings from this research provide preliminary support for the adaptation of an existing parent intervention (Cool Little Kids) to reduce anxiety among autistic children. Parents reported an increased awareness and understanding of anxiety and of the interplay between anxiety and autistic traits. Positionality Statement: This article uses the identity-first language autistic people. This nonableist language describes their strengths and abilities and is a conscious decision. This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021; Kenny et al., 2016).

Lien vers le texte intégral (Open Access ou abonnement)

23. Sumiya M, Senju A. Brief Reports: Influence of Friendship on Loneliness Among Adolescents with Autism Spectrum Disorders in Japan. Journal of autism and developmental disorders. 2023.

PURPOSE: Previous studies have reported that people with autism spectrum disorder (ASD) have higher levels of loneliness than neurotypical (NTP) people, most likely because of their difficulties in social communication with their predominantly NTP peers. However, direct investigations on the causal influence of friendship on their feelings of loneliness is scarce. METHODS: In the current study, using the causal mediation analysis, we investigated whether friendship among ASD individuals influences their feelings of loneliness, especially during adolescence when the importance of friendship is typically most elevated. Furthermore, we examined whether individual differences in autistic behavioral features or age affect feelings of loneliness or the qualities of friendship with linear regression analyses. RESULTS: The results demonstrated that the higher levels of loneliness in adolescents with ASD were mediated by one aspect of friendship, companionship. We also found that positive aspects of friendship, but not negative aspects, influence the feelings of loneliness in both ASD and NTP populations. One subcategory of the measured autistic trait, difficulty in imagination, which is associated the ability to consider another’s perspective, had a negative relationship with the positive aspects of friendship in the ASD group, but not in the NTP group. CONCLUSION: These findings indicate that the quality of the positive aspects of friendship is similarly important for both adolescents with ASD and NTP adolescents, but the autistic behavioral features could interfere with the experience of such positive friendships.

Lien vers le texte intégral (Open Access ou abonnement)

24. Waldman-Levi A, Kuhaneck H. Father-Child Playfulness: A Secondary Analysis of a Multiple-Baseline Single-Subject Study of Three Children With Autism Spectrum Disorder. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Ayres Sensory Integration® (ASI) is commonly used with children on the autism spectrum to promote sensory processing and improved occupational performance, including play. To date, there has been no explicit effort to examine improvements in playfulness through ASI. OBJECTIVE: To explore whether ASI, coupled with parent training, improves child playfulness and fathers’ support of child playfulness. DESIGN: Single-subject A-B-BC design secondary analysis of a nonconcurrent multiple-baseline study. SETTING: Occupational therapy clinic. PARTICIPANTS: Three father-child dyads; children were ages 3 to 6 yr, with autism spectrum disorder (ASD) and documented sensory processing concerns. INTERVENTION: After a baseline phase, each child received at least 24 sessions of ASI, and fathers received parent training focusing on sensory processing issues and play via an online presentation. OUTCOMES AND MEASURES: The Parent/Caregiver’s Support of Children’s Playfulness and the Test of Playfulness. RESULTS: Visual analysis of the baseline phase, ASI phase, and ASI with parent training phase shows that all 3 fathers demonstrated an increase in the way they supported their child’s playfulness; however, this change was not maintained. Children’s playfulness fluctuated, reaching a peak after fathers received training, but none of the children maintained that change. CONCLUSIONS AND RELEVANCE: Additional support by the therapist is required for fathers to learn and use new strategies to promote consistent change in child playfulness during play. Pilot data can be used to inform future studies. What This Article Adds: Occupation- and family-centered frameworks may be useful in guiding practice when working with families of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

25. Wang D, Zhang Y, Zhang H, Kuo F, Zhang L, Yang Y, Yan Y, Ng ML, Wang L, Yan N, Chen Y. Is visual gaze in children with autism spectrum disorder related to sequence of emotion intensity presentation? An eye-tracking study of natural emotion perception processes. Autism research : official journal of the International Society for Autism Research. 2023.

Emotion cognitive remediation is a critical component of social skills training for children with autism spectrum disorder (ASD). Visual perception of emotions is highly correlated with the intensity and sequence of presented emotions. However, few studies examined the effect of presentation sequence and intensity on emotion perception. The present study examined the gaze patterns of children with ASD in receiving different sequences of emotion presentation using eye-tracking technologies. Gaze patterns of ecologically-valid video clips of silent emotion stimuli by 51 ASD children and 34 typically developing (TD) children were recorded. Results indicated that ASD and TD children showed opposite visual fixation during different intensity presentation modes: children with ASD showed better emotion perception with a weak-to-strong emotion sequence when presented. The visual reductions in emotion perception in children with ASD may due to different perceptual threshold to emotional intensity. The extent of the reductions could be related to an individual’s Personal-Social ability. The present study supports the importance of intensity of emotions and the order at which the emotional stimuli were presented in yielding better emotion perceptions in children with ASD, suggesting that the order of emotion presentation may potentially influence emotion processing during ASD rehabilitation. It is anticipated that the present findings could bring more insights to clinicians for intervention planning in the future.

Lien vers le texte intégral (Open Access ou abonnement)

26. Wehrle S, Cangemi F, Janz A, Vogeley K, Grice M. Turn-timing in conversations between autistic adults: Typical short-gap transitions are preferred, but not achieved instantly. PloS one. 2023; 18(4): e0284029.

The organisation of who speaks when in conversation is perhaps the most fundamental aspect of human communication. Research on a wide variety of groups of speakers has revealed a seemingly universal preference for between-speaker transitions consisting of very short silent gaps. Previous research on conversational turn-taking in Autism Spectrum Disorder (ASD) consists of only a handful of studies, most of which are limited in scope and based on the non-spontaneous speech of children and adolescents. No previous studies have investigated dialogues between autistic adults. We analysed the conversational turn-taking behaviour of 28 adult native German speakers in two groups of dyads, in which both interlocutors either did or did not have a diagnosis of ASD. We found no clear difference in turn-timing between the ASD and the control group overall, with both groups showing the same preference for very short silent-gap transitions that has been described for many other groups of speakers in the past. We did, however, find a clear difference between groups specifically in the earliest stages of dialogue, where ASD dyads produced considerably longer silent gaps than controls. We discuss our findings in the context of the previous literature, the implications of diverging behaviour specifically in the early stages of conversation, and the general importance of studying the neglected aspect of interactions between autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

27. Whelan M, McGillivray J, Rinehart NJ. Using Life Course Theory to Explore the Association Between Autistic Traits, Child, Family, and School Factors and the Successful Transition to Secondary School. Journal of autism and developmental disorders. 2023.

Life Course Theory contends that school transitions can interrupt academic and wellbeing trajectories, depending on child, family, and school factors. Hierarchical regression analyses examined how autistic traits were associated with school transition outcomes. Autistic traits explained 12% of the variance in Quality of Life (QOL), 24% of the variance in mental health and 9% of the variance in school belonging. When autistic traits were accounted for, gender was a significant predictor of changes in QOL whereas changes in school belonging were predicted by cognitive functioning, parent education, school attendance and school refusal. Changes in mental health after transition were mostly predicted by family factors including family structure, family functioning and parent education but were also significantly predicted by sleep problems.

Lien vers le texte intégral (Open Access ou abonnement)

28. Worthley E, Grzadzinski R, Zwaigenbaum L, Dager SR, Estes AM, Hazlett HC, Schultz RT, Piven J, Wolff JJ. Sensory Profiles in Relation to Later Adaptive Functioning Among Toddlers at High-Familial Likelihood for Autism. Journal of autism and developmental disorders. 2023.

This study investigated the extent to which sensory responsivity in infancy contributes to adaptive behavior development among toddlers at high-familial likelihood for autism. Prospective, longitudinal data were analyzed for 218 children, 58 of whom received an autism diagnosis. Results indicated that sensory profiles at age one year (hyperresponsivity, sensory seeking) were negatively associated with later adaptive behavior, particularly for socialization, at age 3 years regardless of diagnostic status. These results suggest that early differences in sensory responsivity may have downstream developmental consequences related to social development among young children with high-familial likelihood for autism.

Lien vers le texte intégral (Open Access ou abonnement)