1. Alsaade FW, Alzahrani MS. Classification and Detection of Autism Spectrum Disorder Based on Deep Learning Algorithms. Computational intelligence and neuroscience. 2022; 2022: 8709145.

Autism spectrum disorder (ASD) is a type of mental illness that can be detected by using social media data and biomedical images. Autism spectrum disorder (ASD) is a neurological disease correlated with brain growth that later impacts the physical impression of the face. Children with ASD have dissimilar facial landmarks, which set them noticeably apart from typically developed (TD) children. Novelty of the proposed research is to design a system that is based on autism spectrum disorder detection on social media and face recognition. To identify such landmarks, deep learning techniques may be used, but they require a precise technology for extracting and producing the proper patterns of the face features. This study assists communities and psychiatrists in experimentally detecting autism based on facial features, by using an uncomplicated web application based on a deep learning system, that is, a convolutional neural network with transfer learning and the flask framework. Xception, Visual Geometry Group Network (VGG19), and NASNETMobile are the pretrained models that were used for the classification task. The dataset that was used to test these models was collected from the Kaggle platform and consisted of 2,940 face images. Standard evaluation metrics such as accuracy, specificity, and sensitivity were used to evaluate the results of the three deep learning models. The Xception model achieved the highest accuracy result of 91%, followed by VGG19 (80%) and NASNETMobile (78%).

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2. Andersen NK, Rimvall MK, Jeppesen P, Bentz M, Jepsen JRM, Clemmensen L, Jacobsen RK, Olsen EM. A psychometric investigation of the multiple-choice version of Animated Triangles Task to measure Theory of Mind in adolescence. PloS one. 2022; 17(3): e0264319.

The Animated Triangles Task (AT) is commonly used to measure Theory of Mind (ToM). AT can be scored by clinicians based on participants’ verbal responses (AT-verbal) or using a multiple-choice paradigm (AT-MCQ). This study aimed to evaluate the validity of the less time-consuming AT-MCQ. To do this, we examined agreement and correlations between the AT-MCQ and the original AT-verbal scores in 1546 adolescents from a population-based sample. As a supplementary analysis of known-groups validity, we examined if AT-MCQ was as sensitive as AT-verbal in detecting ToM-limitations in 54 adolescents with autism spectrum disorder (ASD), using register-data. The agreement between AT-verbal and AT-MCQ varied markedly across test items. Scores on the two scoring methods were weakly correlated. Both scoring methods weakly detected differences between adolescents with and without ASD in this population-based sample. Most participants had appropriate responses on both AT-MCQ and AT-verbal, which yielded overall acceptable agreement. However, the feasibility of using either scoring methods to measure ToM-limitations in adolescents from the general population is questionable.

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3. Anitha A, Poovathinal SA, Viswambharan V, Thanseem I, Iype M, Anoop U, Sumitha PS, Parakkal R, Vasu MM. MECP2 Mutations in the Rett Syndrome Patients from South India. Neurology India. 2022; 70(1): 249-53.

BACKGROUND: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT. OBJECTIVE: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala. MATERIALS AND METHODS: In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of MECP2 were amplified and sequenced. RESULTS: MECP2 mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of MECP2, spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the MECP2 gene of 10 patients with a clinical suspicion of RTT. CONCLUSIONS: A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of MECP2, followed by exons 1 and 2, testing for large deletions in MECP2, and screening for mutations in genes, such as CDKL5 and FOXG1 that are reported to cause a Rett-like phenotype.

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4. Busgang SA, Waller LA, Colicino E, D’Agostino R, Jr., Hertz-Picciotto I, Gennings C. Selecting External Controls for Internal Cases Using Stratification Score Matching Methods. International journal of environmental research and public health. 2022; 19(5).

Rare-disease registries can be useful for studying the associations between environmental exposures and disease severity, but often require the addition of a healthy comparison control group. Defining a surrogate control group, matched and balanced on potentially confounding variables, would allow for the comparison of exposure distributions with cases from a registry. In the present study, we assess whether controls selected externally, using stratification score (SS) matching, can serve as effective proxies for internal controls. In addition, we use methyl paraben (MEPB) to compare the estimated associations between an externally matched sample and case-control frequencies in a cohort with internally matched controls. We started with 225 eligible cases of autism spectrum disorder (ASD) from Childhood Autism Risks from Genetics and the Environment (CHARGE), 241 internal controls from CHARGE, and 265 external controls from the National Health and Nutrition Examination Survey (NHANES) cycles 2005-2016. We calculated the SSs using demographic covariates and matched 1:1 using a caliper method without a replacement. The distribution of the covariates and the mean squared error of the paired differences (MSE(paired)) in the SSs between the internal and external group were similar (MSE(paired) = 0.007 and 0.011, respectively). The association between MEPB and ASD compared to the controls was similar between the externally matched SS pairs and the original frequency matched cohort. Controls selected externally, via SS matching, can provide a comparable bias reduction to that provided by the internal controls, and therefore may be a useful strategy in situations when the internal controls are not available.

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5. Cecconet D, Mainardis M, Callegari A, Capodaglio AG. Psychrophilic treatment of municipal wastewater with a combined UASB/ASD system, and perspectives for improving urban WWTP sustainability. Chemosphere. 2022; 297: 134228.

According to new paradigms of urban wastewater management, energy savings and resources and energy recovery from sewage will assume an ever-increasing importance. Anaerobic processes, aside from being more energy efficient than conventional aerobic ones, are particularly suited to recover embedded organic energy, improving the overall energy balance of treatment processes, however, their performance is limited by low temperatures and slower kinetics. In this study, a pilot Upflow Anaerobic Sludge Blanket (UASB) reactor was operated to treat municipal wastewater at low temperature regime (16.5-18.5 °C) for 22 weeks, both as standalone process and combined with a sidestream anaerobic sludge digester. Process performance highlighted good system robustness, as proved by stable pH and volatile fatty acid/total alkaline buffer capacity ratio, even though observed methane yield was low. Observed COD and TSS removal efficiencies were in the ranges of 60-69% and 63-73%, respectively. Methane production ranged between 0.106 and 0.132 Nm(3)(CH4)/kg(CODrem). An economic assessment was carried out to evaluate the feasibility and benefits of implementing UASB pre-treatment of municipal wastewater in existing conventional facilities (activated sludge and anaerobic sludge digestion), showing that significant energy demand reduction could be achieved for both biological secondary treatment and sludge management, leading to considerable operational economies, and possible positive economic returns within a short pay-back period (3-4 yrs).

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6. Ejlersen M, Ilieva M, Michel TM. Superoxide dismutase isozymes in cerebral organoids from autism spectrum disorder patients. Journal of neural transmission (Vienna, Austria : 1996). 2022.

Autism spectrum disorder is a pervasive neurodevelopmental disorder with a substantial contribution to the global disease burden. Despite intensive research efforts, the aetiopathogenesis remains unclear. The Janus-faced antioxidant enzymes superoxide dismutase 1-3 have been implicated in initiating oxidative stress and as such may constitute a potential therapeutic target. However, no measurement has been taken in human autistic brain samples. The aim of this study is to measure superoxide dismutase 1-3 in autistic cerebral organoids as an in vitro model of human foetal neurodevelopment. Whole brain organoids were created from induced pluripotent stem cells from healthy individuals (n = 5) and individuals suffering from autism (n = 4). Using Pierce bicinchoninic acid and enzyme-linked immunosorbent assays, the protein and superoxide dismutase 1, 2, and 3 concentrations were quantified in the cerebral organoids at days 22, 32, and 42. Measurements were normalized to the protein concentration. Results represented using medians and interquartile ranges. Using Wilcoxon matched-pairs signed-rank test, an abrupt rise in the superoxide dismutase concentration was observed at day 32 and onwards. Using Wilcoxon rank-sum test, no differences were observed between healthy (SOD1: 35.56 ng/mL ± 3.46; SOD2: 2435.80 ng/mL ± 1327.00; SOD3: 1854.88 ng/mL ± 867.94) and autistic (SOD1: 32.85 ng/mL ± 5.26; SOD2: 2717.80 ng/mL ± 1889.10; SOD3: 1690.18 ng/mL ± 615.49) organoids. Cerebral organoids recapitulate many aspects of human neurodevelopment, but the diffusion restriction may render efforts in modelling differences in oxidative stress futile due to the intrinsic hypoxia and central necrosis.

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7. Fevang SKE, Røiseland MA, Bircow EI, Maria V, Mari H. Symptoms and antecedents of autism in children born extremely premature: a national population-based study. European child & adolescent psychiatry. 2022.

The objective of this study is to investigate the prevalence of autism (ASD) symptoms, i.e. , social difficulties, repetitive behaviors, and communicational problems, among children born extremely preterm (EP) compared to a reference group, and to investigate possible antecedents of ASD symptoms among EP children. Method is a national Norwegian cohort of 11 year old EP children, excluding those with intellectual disabilities, non-ambulatory cerebral palsy, blindness, and/or deafness. Parents and teachers reported ASD symptoms using The Autism Spectrum Screening Questionnaire (ASSQ). Social difficulties, repetitive behaviors, communicational problems, and a total ASSQ score were presented. Combined ratings on the ASSQ was defined as parent and/or teacher scoring the child ≥ 98th percentile of the reference group, which was the population-based Bergen Child Study. Of eligible children, 216 (64%) EP and 1882 (61%) reference children participated. EP children had significantly higher mean scores and combined ratings on social difficulties (14.5% vs. 4.1%, OR: 3.2), repetitive behaviors (23.7% vs. 4.0%, OR: 6.4), communicational problems (23.1% vs. 4.8%, OR: 5.4), and the total ASSQ score (18.3% vs. 3.4%, OR: 5.7) compared to reference children. Only no prenatal steroids, IQ 70-84, and mental health problems at 5 years of age were significantly associated with ASD symptoms at 11 years of age. EP children were at increased risk of social difficulties, repetitive behaviors, and communicational problems, and approximately one out of five were reported as high scorers of ASD symptoms. No prenatal steroids use, IQ in the lower range, and mental health problems at 5 years of age were associated with ASD symptoms.

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8. Gur A, Bina R. Facilitators of Sense of Belonging Among People With Intellectual and Developmental Disabilities: A Systematic Review. Journal of intellectual disabilities : JOID. 2022: 17446295211068424.

Background: This review synthesizes the available literature regarding factors which facilitate a sense of belonging in people with intellectual and developmental disabilities, and provide a comprehensive integrative view of the subject. Methods: Four electronic databases were searched, and 13 studies met inclusion criteria for review. The « standard quality assessment criteria for evaluating primary research papers from a variety of fields » indicated satisfactory quality. Factors which facilitate a sense of belonging in people with intellectual and developmental disabilities were analyzed into themes. Results: Sense of belonging is enhanced by feeling respected, accepted, and valued (Subjectivity). These experiences are more likely to be achieved in a familiar and safe environment (Dynamism), and with access to platforms for social interactions (Groundedness), where a sense of relatedness and connectedness achieved by shared experiences with others (Reciprocity). Sense of belonging is associated with committed action of people with disability, taking assertive action or being agentic (Self-determination). Conclusion: Sense of belonging is a unique concept that should be addressed in disability research and practice.

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9. Korteling D, Boks MP, Fiksinski AM, van Hoek IN, Vorstman JAS, Verhoeven-Duif NM, Jans JJM, Zinkstok JR. Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome. Translational psychiatry. 2022; 12(1): 97.

The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typically deleted region in 22q11.2DS contains multiple genes with the potential of altering metabolism. Deficits in metabolic processes during early brain development may help explain the increased prevalence of neurodevelopmental phenotypes seen in 22q11.2DS. However, relatively little is known about the metabolic impact of the 22q11.2 deletion, while such insight may lead to increased understanding of the etiology. We performed untargeted metabolic analysis in a large sample of dried blood spots derived from 49 22q11.2DS patients and 87 controls, to identify a metabolic signature for 22q11.2DS. We also examined trait-specific metabolomic patterns within 22q11.2DS patients, focusing on intelligence (intelligence quotient, IQ) and ASD. We used the Boruta algorithm to select metabolites distinguishing patients from controls, patients with ASD from patients without, and patients with an IQ score in the lowest range from patients with an IQ score in the highest range. The relevance of the selected metabolites was visualized with principal component score plots, after which random forest analysis and logistic regression were used to measure predictive performance of the selected metabolites. Analysis yielded a distinct metabolic signature for 22q11.2DS as compared to controls, and trait-specific (IQ and ASD) metabolomic patterns within 22q11.2DS patients. The metabolic characteristics of 22q11.2DS provide insights in biological mechanisms underlying the neurodevelopmental phenotype and may ultimately aid in identifying novel therapeutic targets for patients with developmental disorders.

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10. Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. International journal of molecular sciences. 2022; 23(5).

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare genetic disorder caused by inefficient metabolic breakdown of the major inhibitory neurotransmitter, γ-aminobutyric acid (GABA). Pathologic brain accumulation of GABA and γ-hydroxybutyrate (GHB), a neuroactive by-product of GABA catabolism, leads to a multitude of molecular abnormalities beginning in early life, culminating in multifaceted clinical presentations including delayed psychomotor development, intellectual disability, hypotonia, and ataxia. Paradoxically, over half of patients with SSADHD also develop epilepsy and face a significant risk of sudden unexpected death in epilepsy (SUDEP). Here, we review some of the relevant molecular mechanisms through which impaired synaptic inhibition, astrocytic malfunctions and myelin defects might contribute to the complex SSADHD phenotype. We also discuss the gaps in knowledge that need to be addressed for the implementation of successful gene and enzyme replacement SSADHD therapies. We conclude with a description of a novel SSADHD mouse model that enables ‘on-demand’ SSADH restoration, allowing proof-of-concept studies to fine-tune SSADH restoration in preparation for eventual human trials.

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11. Lee IC, Yang JJ, Liou YM, Wong SH. KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders. Cells. 2022; 11(5).

KCNQ2 mutations can cause benign familial neonatal convulsions (BFNCs), epileptic encephalopathy (EE), and mild-to-profound neurodevelopmental disabilities. Mutations in the KCNQ2 selectivity filter (SF) are critical to neurodevelopmental outcomes. Three patients with neonatal EE carry de novo heterozygous KCNQ2 p.Thr287Ile, p.Gly281Glu and p.Pro285Thr, and all are followed-up in our clinics. Whole-cell patch-clamp analysis with transfected mutations was performed. The Kv7.2 in three mutations demonstrated significant current changes in the homomeric-transfected cells. The conduction curves for V(1/2), the K slope, and currents in 3 mutations were lower than those for the wild type (WT). The p.Gly281Glu had a worse conductance than the p.Thr287Ile and p.Pro285Thr, the patient compatible with p.Gly281Glu had a worse clinical outcome than patients with p.Thr287Ile and p.Pro285Thr. The p.Gly281Glu had more amino acid weight changes than the p.Gly281Glu and p.Pro285Thr. Among 5 BFNCs and 23 EE from mutations in the SF, the greater weight of the mutated protein compared with that of the WT was presumed to cause an obstacle to pore size, which is one of the most important factors in the phenotype and outcome. For the 35 mutations in the SF domain, using changes in amino acid weight between the WT and the KCNQ2 mutations to predict EE resulted in 80.0% sensitivity and 80% specificity, a positive prediction rate of 96.0%, and a negative prediction rate of 40.0% (p = 0.006, χ(2) (1, n = 35) = 7.56; odds ratio 16.0, 95% confidence interval, 1.50 to 170.63). The findings suggest that p.Thr287Ile, p.Gly281Glu and p.Pro285Thr are pathogenic to KCNQ2 EE. In mutations in SF, a mutated protein heavier than the WT is a factor in the Kv7.2 current and outcome.

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12. Levy T, Lerman B, Halpern D, Frank Y, Layton C, Zweifach J, Siper PM, Buxbaum JD, Kolevzon A. CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms. Human molecular genetics. 2022.

CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with developmental delay, intellectual disability, behavioral symptoms, medical comorbidities, and dysmorphic features. To date, literature has focused on medical review and dysmorphology but has yet to prospectively assess neurobehavioral core domains such as autism, or behavioral, language, cognitive, and sensory features. Here, we present deep phenotyping results for 11 individuals with CHAMP1 disorder, based on approximately 12 hours of remote clinician-administered assessments and standardized caregiver questionnaires. Diagnoses of autism spectrum disorder were given to 33% of participants; repetitive behaviors and sensory-seeking symptoms were prominent in this cohort. In addition, 60% of participants met the criteria for attention-deficit/hyperactivity disorder (ADHD). High rates of ADHD and relatively low rates of treatment suggest potential areas for intervention. This study represents the first prospective phenotyping analysis of individuals with CHAMP1 disorder. The utility of specific measures as clinical endpoints, as well as benefits and limitations of remote phenotyping, are described.

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13. Marino F, Chilà P, Failla C, Minutoli R, Vetrano N, Luraschi C, Carrozza C, Leonardi E, Busà M, Genovese S, Musotto R, Puglisi A, Arnao AA, Cardella G, Famà FI, Cusimano G, Vagni D, Martines P, Mendolia G, Tartarisco G, Cerasa A, Ruta L, Pioggia G. Psychological Interventions for Children with Autism during the COVID-19 Pandemic through a Remote Behavioral Skills Training Program. Journal of clinical medicine. 2022; 11(5).

COVID-19 has impacted negatively on the mental health of children with autism spectrum disorder (ASD), as well as on their parents. Remote health services are a sustainable approach to behavior management interventions and to giving caregivers emotional support in several clinical domains. During the COVID-19 pandemic, we investigated the feasibility of a web-based behavioral skills training (BST) program for 16 parents and their children with ASD at home. The BST parent training package was tailored to each different specific behavioral disorder that characterizes children with ASD. After training, we found a significant reduction in the frequency of all the targeted behavioral disorders, as well as an improvement in psychological distress and the perception of the severity of ASD-related symptoms in parents. Our data confirm the efficacy of remote health care systems in the management of behavioral disorders of children with ASD, as well as of their parents during the COVID-19 pandemic.

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14. Marotta A, Aranda-Martín B, De Cono M, Ballesteros-Duperón M, Casagrande M, Lupiáñez J. Integration of Facial Expression and Gaze Direction in Individuals with a High Level of Autistic Traits. International journal of environmental research and public health. 2022; 19(5).

BACKGROUND: We investigated whether individuals with high levels of autistic traits integrate relevant communicative signals, such as facial expression, when decoding eye-gaze direction. METHODS: Students with high vs. low scores on the Autism Spectrum Quotient (AQ) performed a task in which they responded to the eye directions of faces, presented on the left or the right side of a screen, portraying different emotional expressions. RESULTS: In both groups, the identification of gaze direction was faster when the eyes were directed towards the center of the scene. However, in the low AQ group, this effect was larger for happy faces than for neutral faces or faces showing other emotional expressions, whereas participants from high AQ group were not affected by emotional expressions. CONCLUSIONS: These results suggest that individuals with more autistic traits may not integrate multiple communicative signals based on their emotional value.

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15. Masi A, Azim SI, Khan F, Karlov L, Eapen V. Dissemination of Early Intervention Program for Preschool Children on the Autism Spectrum into Community Settings: An Evaluation. International journal of environmental research and public health. 2022; 19(5).

We aimed to address a policy-relevant research area with high priority, namely disseminating early intervention for children on the autism spectrum into mainstream community settings. The study cohort comprised 47 children with a diagnosis of Autism Spectrum Disorder (ASD) receiving the Early Start Denver Model (ESDM) intervention: 23 children attending an Autism Specific Early Learning and Care Centre (ASELCC) and 24 children attending a mainstream preschool setting. Group comparisons revealed that the overall response to intervention was in the majority of cases not significantly different between settings. One difference was found in that children in the mainstream preschool setting showed a significant reduction in externalising behaviours compared to the children attending the autism-specific preschool. Intervention duration was found to influence outcomes with a one-month increase in duration found to improve expressive language skills. While the results need to be interpreted with caution due to the small sample size, these findings suggest that early intervention can be successfully delivered in both autism-specific and mainstream settings. However, those families needing additional parent support may be better served by a specialised service.

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16. Niedźwiecka A, Pisula E. Symptoms of Autism Spectrum Disorders Measured by the Qualitative Checklist for Autism in Toddlers in a Large Sample of Polish Toddlers. International journal of environmental research and public health. 2022; 19(5).

This study aimed to assess some early symptoms of autism spectrum disorders (ASD) measured by a screening tool developed for an early detection of ASD. We investigated if the early symptoms were associated with toddlers’ age, gender or ASD familial risk status. We used the Polish version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) to assess 1024 children aged 16 to 36 months. The sample included four groups of participants: typically developing toddlers, toddlers with parent-reported ASD-specific concerns, toddlers at risk for autism due to having an older sibling with ASD, and toddlers with a developmental delay. We found that mean Q-CHAT scores were significantly higher in boys than in girls. We did not find any associations between Q-CHAT scores and age. We observed that toddlers with a familial risk for ASD and those with a developmental delay scored significantly higher than controls. We collated these results with previous studies that used the Q-CHAT and other instruments.

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17. Nisticò V, Faggioli R, Tedesco R, Giordano B, Priori A, Gambini O, Demartini B. Brief Report: Sensory Sensitivity is Associated with Disturbed Eating in Adults with Autism Spectrum Disorders Without Intellectual Disabilities. Journal of autism and developmental disorders. 2022.

Aim of the present study was to evaluate the relationship between sensory sensitivity and autistic eating behaviours or Eating Disorders (EDs) symptomatology, in a group of 75 adults with Autism Spectrum Disorders (ASDs) without intellectual disabilities, through a series of self-report questionnaires. We found that, controlling for demographic and clinical features: (i) hypersensitivity in the vision domain predicted higher levels of both EDs symptoms and autistic eating behaviours; (ii) hyposensitivity in the taste domain predicted higher levels of EDs symptoms. This gives preliminary evidence that not only in children diagnosed with ASDs, but even in adult individuals, the threshold of sensory sensitivity is associated with dysfunctional eating behaviours.

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18. Papanikolaou K, Ntre V, Gertsou IM, Tagkouli E, Tzavara C, Pehlivanidis A, Kolaitis G. Parenting Children with Autism Spectrum Disorder during Crises: Differential Responses between the Financial and the COVID-19 Pandemic Crisis. Journal of clinical medicine. 2022; 11(5).

Parenting a child with autism can be particularly stressful and challenging, especially during periods of crises. This study focuses on parenting children with autism during the COVID-19 pandemic in comparison to the economic crisis, six years ago. We administered the same set of questionnaires (CES-D, F-COPES, PSI-SF, and WHOQoL-BREF), along with a demographic characteristic and a COVID-19-related questionnaire to the same group of parents of children with autism as we did six years ago. Results indicated that during the COVID-19 crisis, the level of parenting stress and the distress due to personal factors related to demands of parenting, were significantly lower compared to the economic crisis, while the environment facet of quality of life was significantly higher. The depressive symptomatology was elevated during both periods. Finally, when addressing the pandemic crisis, parents were more likely to passively accept problematic issues, less able to obtain social support, and less able to acquire and accept help from others. In our sample, findings differentiate the genre of crises through the parents’ responses regarding the sense of competence in their parental role, their quality of life, and the coping strategies they implemented. The study implies that each crisis must be confronted with particular responses to particular needs.

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19. Ronconi L, Vitale A, Federici A, Mazzoni N, Battaglini L, Molteni M, Casartelli L. Neural dynamics driving audio-visual integration in autism. Cerebral cortex (New York, NY : 1991). 2022.

Audio-visual (AV) integration plays a crucial role in supporting social functions and communication in autism spectrum disorder (ASD). However, behavioral findings remain mixed and, importantly, little is known about the underlying neurophysiological bases. Studies in neurotypical adults indicate that oscillatory brain activity in different frequencies subserves AV integration, pointing to a central role of (i) individual alpha frequency (IAF), which would determine the width of the cross-modal binding window; (ii) pre-/peri-stimulus theta oscillations, which would reflect the expectation of AV co-occurrence; (iii) post-stimulus oscillatory phase reset, which would temporally align the different unisensory signals. Here, we investigate the neural correlates of AV integration in children with ASD and typically developing (TD) peers, measuring electroencephalography during resting state and in an AV integration paradigm. As for neurotypical adults, AV integration dynamics in TD children could be predicted by the IAF measured at rest and by a modulation of anticipatory theta oscillations at single-trial level. Conversely, in ASD participants, AV integration/segregation was driven exclusively by the neural processing of the auditory stimulus and the consequent auditory-induced phase reset in visual regions, suggesting that a disproportionate elaboration of the auditory input could be the main factor characterizing atypical AV integration in autism.

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20. Santrač A, Bijelić D, Stevanović V, Banićević M, Aranđelović J, Batinić B, Sharmin D, Cook JM, Savić MM. Postweaning positive modulation of α5GABAA receptors improves autism-like features in prenatal valproate rat model in a sex-specific manner. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD), as a common neurodevelopmental disorder that encompasses impairments in social communication and interaction, as well as repetitive and restrictive behavior, still awaits an effective treatment strategy. The involvement of GABAergic neurotransmission, and especially a deficit of GABA(A) receptors that contain the α5 subunits, were implicated in pathogenesis of ASD. Therefore, we tested MP-III-022, a positive allosteric modulator (PAM) selective for α5GABAA receptors, in Wistar rats prenatally exposed to valproic acid, as an animal model useful for studying ASD. Postweaning rats of both sexes were treated for 7 days with vehicle or MP-III-022 at two doses pharmacokinetically determined as selective, and thereafter tested in a behavioral battery (social interaction test, elevated plus maze, spontaneous locomotor activity, and standard and reverse Morris water maze). Additional rats were used for establishing a primary neuronal culture and performing calcium imaging, and determination of hippocampal mRNA levels of GABRA5, NKCC1, and KCC2. MP-III-022 prevented impairments in many parameters connected with social, repetitive and restrictive behavioral domains. The lower and higher dose was more effective in males and females, respectively. Intriguingly, MP-III-022 elicited certain changes in control animals similar to those manifested in valproate animals themselves. Behavioral results were mirrored in GABA switch and spontaneous neuronal activity, assessed with calcium imaging, and also in expression changes of three genes analyzed. Our data support a role of α5GABAA receptors in pathophysiology of ASD, and suggest a potential application of selective PAMs in its treatment, that needs to be researched in a sex-specific manner. LAY SUMMARY: In rats prenatally exposed to valproate as a model of autism, a modulator of α5GABAA receptors ameliorated social, repetitive and restrictive impairments, and, intriguingly, elicited certain autism-like changes in control rats. Behavioral results were mirrored in GABA switch and spontaneous neuronal activity, and partly in gene expression changes. This shows a role of α5GABAA receptors in pathophysiology of ASD, and a potential application of their selective modulators in its treatment.

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21. Selick A, Durbin J, Casson I, Green L, Abells D, Bruni A, Mazurek MT, Jiwa MI, Lunsky Y. Improving capacity to care for patients with intellectual and developmental disabilities: The value of an experiential learning model for family medicine residents. Disability and health journal. 2022: 101282.

BACKGROUND: Patients with intellectual and developmental disabilities (IDD) are more likely to experience poor health outcomes and family physicians receive inadequate training to provide appropriate care to this patient group. Little prior research has studied how to effectively train family physicians to care for patients with IDD. OBJECTIVE: The aim of this pilot study was to assess the value of adding an experiential component to didactic education strategies to improve family medicine resident perceived comfort, skills and knowledge related to caring for patients with IDD. METHODS: Structured education programs for residents were implemented at three primary care practices in Ontario, Canada. Two practices received didactic information only (didactic-only group); one received didactic information and an experiential training model including clinical interactions and a written reflection on that experience (didactic plus experiential group). In this separate-sample pre-post design, residents were invited to complete a brief anonymous survey prior to and following the training assessing their perceived comfort, skills and knowledge related to patients with IDD. RESULTS: At baseline, there were no significant differences between the two groups of residents. At follow up, the experiential group reported significantly higher levels of comfort, skills, and knowledge compared to baseline for most items assessed, while in the didactic-only group most items showed little or no improvement. CONCLUSION: This pilot study suggests that providing residents the opportunity to participate in clinical encounters with patients with IDD, as well as a structured process to reflect on such encounters, results in greater benefit than didactic training alone.

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22. Sipowicz K, Pietras T, Podlecka M, Mokros Ł. The Association between Depression and Perceived Stress among Parents of Autistic and Non-Autistic Children-The Role of Loneliness. International journal of environmental research and public health. 2022; 19(5).

Having an autistic child significantly impairs the functioning of the family, including the wellbeing of the parents. The aim of this study was to assess whether loneliness mediates the relationship between perceived stress and the severity of depressive symptoms in the studied sample of parents. This cross-sectional study involved 39 parents of autistic children and 45 parents of non-autistic children. They completed a set of tests: a survey on sociodemographic and clinical data and psychometric questionnaires, i.e., Beck Depression Inventory II (BDI), De Jong Gierveld Loneliness Scale (DJGLS), and Perceived Stress Questionnaire (KPS). A rise in external and intrapsychic stress, independently, was linked to a rise in the severity of depressive symptoms. The severity of depression, loneliness and stress was higher among parents of autistic children compared with parents of non-autistic children. Intrapsychic stress exhibited an indirect effect through loneliness on the worsening of depressive symptoms.

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23. Tahririan D, Shariati S, Nilchian F. Autistic children’s parents and hospital dentistry. Dental research journal. 2021; 18: 105.

BACKGROUND: It is difficult to perform dental procedures in autistic children, and parental involvement is necessary for successful hospital dental services. Therefore, in order to promote oral health in autistic children, this study was aimed to explore the knowledge, attitude, and performance of autistic children’s parents with respect to hospital dentistry. MATERIALS AND METHODS: This cross-sectional study was conducted with the parents of 100 autistic children aged 2-6 years selected from among the children of Isfahan autism treatment centers. A self-administered questionnaire, including parental demographic information and 22 items on the assessment of knowledge, attitude, and performance of autistic children’s parents regarding hospital dental procedures under general anesthesia, was completed by 100 parents. P <0.05 was considered statistically significant. Data were analyzed by SPSS software using Chi-square test. RESULTS: A total of 100 parents of autistic children, with an average age of 37.4 ± 6.1 years, were recruited in this study. The results showed that 56%, 50%, and 3% of parents had poor knowledge about dental hospital services, dental complications, and hospital dentistry rules, respectively. Further, 51% of parents believed that general anesthesia was dangerous to their children. In addition, 69% of children had little or no cooperation with the dentist. There was also a significant relationship between the knowledge, attitude, and performance of autistic children's parents regarding hospital dentistry and the parents' age and sex. CONCLUSION: This study showed that autistic children's parents had poor knowledge, attitude, and performance with respect to hospital dentistry.

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24. Welch C, Mulligan K. Does Bisphenol A Confer Risk of Neurodevelopmental Disorders? What We Have Learned from Developmental Neurotoxicity Studies in Animal Models. International journal of molecular sciences. 2022; 23(5).

Substantial evidence indicates that bisphenol A (BPA), a ubiquitous environmental chemical used in the synthesis of polycarbonate plastics and epoxy resins, can impair brain development. Clinical and epidemiological studies exploring potential connections between BPA and neurodevelopmental disorders in humans have repeatedly identified correlations between early BPA exposure and developmental disorders, such as attention deficit/hyperactivity disorder and autism spectrum disorder. Investigations using invertebrate and vertebrate animal models have revealed that developmental exposure to BPA can impair multiple aspects of neuronal development, including neural stem cell proliferation and differentiation, synapse formation, and synaptic plasticity-neuronal phenotypes that are thought to underpin the fundamental changes in behavior-associated neurodevelopmental disorders. Consistent with neuronal phenotypes caused by BPA, behavioral analyses of BPA-treated animals have shown significant impacts on behavioral endophenotypes related to neurodevelopmental disorders, including altered locomotor activity, learning and memory deficits, and anxiety-like behavior. To contextualize the correlations between BPA and neurodevelopmental disorders in humans, this review summarizes the current literature on the developmental neurotoxicity of BPA in laboratory animals with an emphasis on neuronal phenotypes, molecular mechanisms, and behavioral outcomes. The collective works described here predominantly support the notion that gestational exposure to BPA should be regarded as a risk factor for neurodevelopmental disorders.

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