1. Arakawa H, Higuchi Y, Ozawa A. Oxytocin neurons in the paraventricular nucleus of the hypothalamus circuit-dependently regulates social behavior, which malfunctions in BTBR mouse model of autism. Research square. 2023.

Oxytocin (OXT) a neuropeptide synthesized in the hypothalamic nuclei has a variety of function including socio-emotional processes in mammals. While the neural circuits and signaling pathways in central OXT converge in the paraventricular nucleus of the hypothalamus (PVN), we illuminate specific function of discrete PVN OXT circuits, which connect to the medial amygdala (MeA) and the bed nucleus of the stria terminalis (BnST) in mouse models. The OXT (PVN) → (BnST) projections are innervated from entire portions of the PVN, while those OXT (PVN) → (MeA) projections are asymmetrically innervated from the posterior portion of the PVN. Compared with OXT neurons in B6 wild type mice, BTBR mice that are recognized as a behavior-based autism model exhibited defect in the OXT (PVN) → (BnST) projection. We demonstrate that chemogenetic activation of OXT (PVN) → (MeA) circuit enhances anxiety-like behavior and facilitates social approach behavior, while activation of OXT (PVN) → (BnST) circuit suppresses anxiety-like behavior along with inhibiting social approach. This chemogenetic manipulation on the OXT (PVN) → (BnST) circuit proves ineffective in BTBR mice. Accordingly, chemogenetic activation of OXT (PVN) neurons that stimulate both OXT circuits induces OXT receptor expressions in both MeA and BnST as with those by social encounter in B6 mice. The induction of OXT receptor genes in the BnST was not observed in BTBR mice. These data support the hypothesis that OXT circuits serve as a regulator for OXT signaling in PVN to control socio-emotional approach/avoidance behavior, and a defect of OXT (PVN) → (BnST) circuit contributes to autism-like social phenotypes in BTBR mice.

Lien vers le texte intégral (Open Access ou abonnement)

2. Arteaga-Henríquez G, Gisbert L, Ramos-Quiroga JA. Immunoregulatory and/or Anti-inflammatory Agents for the Management of Core and Associated Symptoms in Individuals with Autism Spectrum Disorder: A Narrative Review of Randomized, Placebo-Controlled Trials. CNS drugs. 2023.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a so far poorly understood underlying pathogenesis, and few effective therapies for core symptoms. Accumulating evidence supports an association between ASD and immune/inflammatory processes, arising as a possible pathway for new drug intervention. However, current literature on the efficacy of immunoregulatory/anti-inflammatory interventions on ASD symptoms is still limited. The aim of this narrative review was to summarize and discuss the latest evidence on the use of immunoregulatory and/or anti-inflammatory agents for the management of this condition. During the last 10 years, several randomized, placebo-controlled trials on the effectiveness of (add-on) treatment with prednisolone, pregnenolone, celecoxib, minocycline, N-acetylcysteine (NAC), sulforaphane (SFN), and/or omega-3 fatty acids have been performed. Overall, a beneficial effect of prednisolone, pregnenolone, celecoxib, and/or omega-3 fatty acids on several core symptoms, such as stereotyped behavior, was found. (Add-on) treatment with prednisolone, pregnenolone, celecoxib, minocycline, NAC, SFN, and/or omega-3 fatty acids was also associated with a significantly higher improvement in other symptoms, such as irritability, hyperactivity, and/or lethargy when compared with placebo. The mechanisms by which these agents exert their action and improve symptoms of ASD are not fully understood. Interestingly, studies have suggested that all these agents may suppress microglial/monocyte proinflammatory activation and also restore several immune cell imbalances (e.g., T regulatory/T helper-17 cell imbalances), decreasing the levels of proinflammatory cytokines, such as interleukin (IL)-6 and/or IL-17A, both in the blood and in the brain of individuals with ASD. Although encouraging, the performance of larger randomized placebo-controlled trials, including more homogeneous populations, dosages, and longer periods of follow-up, are urgently needed in order to confirm the findings and to provide stronger evidence.

Lien vers le texte intégral (Open Access ou abonnement)

3. Barik K, Watanabe K, Bhattacharya J, Saha G. Functional connectivity based machine learning approach for autism detection in young children using MEG signals. Journal of neural engineering. 2023; 20(2).

Objective.Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, and identifying early autism biomarkers plays a vital role in improving detection and subsequent life outcomes. This study aims to reveal hidden biomarkers in the patterns of functional brain connectivity as recorded by the neuro-magnetic brain responses in children with ASD.Approach.We recorded resting-state magnetoencephalogram signals from thirty children with ASD (4-7 years) and thirty age and gender-matched typically developing (TD) children. We used a complex coherency-based functional connectivity analysis to understand the interactions between different brain regions of the neural system. The work characterizes the large-scale neural activity at different brain oscillations using functional connectivity analysis and assesses the classification performance of coherence-based (COH) measures for autism detection in young children. A comparative study has also been carried out on COH-based connectivity networks both region-wise and sensor-wise to understand frequency-band-specific connectivity patterns and their connections with autism symptomatology. We used artificial neural network (ANN) and support vector machine (SVM) classifiers in the machine learning framework with a five-fold CV technique.Main results.To classify ASD from TD children, the COH connectivity feature yields the highest classification accuracy of 91.66% in the high gamma (50-100 Hz) frequency band. In region-wise connectivity analysis, the second highest performance is in the delta band (1-4 Hz) after the gamma band. Combining the delta and gamma band features, we achieved a classification accuracy of 95.03% and 93.33% in the ANN and SVM classifiers, respectively. Using classification performance metrics and further statistical analysis, we show that ASD children demonstrate significant hyperconnectivity.Significance.Our findings support the weak central coherency theory in autism detection. Further, despite its lower complexity, we show that region-wise COH analysis outperforms the sensor-wise connectivity analysis. Altogether, these results demonstrate the functional brain connectivity patterns as an appropriate biomarker of autism in young children.

Lien vers le texte intégral (Open Access ou abonnement)

4. Carey ME, Tao S, Koffer Miller KH, Marcus SC, Mandell DS, Epstein AJ, Shea LL. Association Between Medicaid Waivers and Medicaid Disenrollment Among Autistic Adolescents During the Transition to Adulthood. JAMA network open. 2023; 6(3): e232768.

This cohort study examines whether Medicaid waivers were associated with a reduced risk of Medicaid disenrollment among autistic adolescents who are transitioning to adulthood. eng from Drexel University during the conduct of the study and receiving consulting fees from Medicus Economics outside the submitted work. No other disclosures were reported.

Lien vers le texte intégral (Open Access ou abonnement)

5. Clark KA, Konrad M, Test DW. The effects of UPGRADE your performance on employment soft skills of students with intellectual and developmental disabilities: A pilot study of generalization. Journal of intellectual disabilities : JOID. 2023: 17446295231163263.

Previous research has identified UPGRADE Your Performance as a method for teaching employment soft skills to students with disabilities. UPGRADE Your Performance instruction is a multicomponent intervention including self-evaluation, self-graphing, goal setting, and technology-aided instruction. This pilot study investigated the generalized effects of UPGRADE Your Performance on soft skills of secondary students with intellectual and other developmental disabilities participating in an 18-21 transition program located on a university campus. Results indicated that when students improved in two targeted soft skill areas, generalization occurred to three non-targeted soft skill areas. Implications for practice and suggestions for future research are included.

Lien vers le texte intégral (Open Access ou abonnement)

6. Coulter-Thompson EI, Matthews DD, Applegate J, Broder-Fingert S, Dubé K. Survey of Lesbian, Gay, Bisexual, Transgender, and Queer Parents’ Experiences Accessing Health Care for their Children With Developmental Disabilities. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners. 2023.

INTRODUCTION: This study explored the impact of health care (HC) bias and discrimination on lesbian, gay, bisexual, transgender, and queer (LGBTQ) parents and their children with developmental disabilities. METHOD: We conducted a national online survey of LGBTQ parents of children with developmental disabilities using social media and professional networks. Descriptive statistics were compiled. Open-ended responses were coded using inductive and deductive approaches. RESULTS: Thirty-seven parents completed the survey. Most participants identified as highly educated, White, lesbian or queer, cisgender women and reported positive experiences. Some reported bias and discrimination, including heterosexist forms, LGBTQ disclosure challenges, and, because of their LGBTQ identity, feeling mistreated by their children’s providers or being refused needed HC for their child. DISCUSSION: This study advances knowledge around LGBTQ parents’ experiences of bias and discrimination while accessing children’s HC. Findings highlight the need for additional research, policy change, and workforce development to improve HC for LGBTQ families.

Lien vers le texte intégral (Open Access ou abonnement)

7. Curie A, Oberlander TF, Jensen KB. Placebo effects in children with autism spectrum disorder. Developmental medicine and child neurology. 2023.

Placebo responses are frequently observed in research studies and clinical contexts, yet there is limited knowledge about the placebo effect among children with neurodevelopmental disorders. Here, we review the placebo effect in autism spectrum disorder (ASD). Placebo responses are widely evident in ASD clinical trials and could partly operate via so-called placebo-by-proxy, whereby caregivers or clinicians indirectly shape patient outcomes. Understanding the role of placebo effects in ASD may help discern genuine treatment effects from contextual factors in clinical trials. The much less studied nocebo effect, or negative placebo, might contribute to the experience of side effects in ASD treatments but empirical data is missing. Better knowledge about placebo and nocebo mechanisms may contribute to the development of more effective research designs, such as three-armed designs that account for natural history, and improved treatments for ASD symptoms. At a clinical level, deeper knowledge about placebo and nocebo effects may optimize the delivery of care for individuals with ASD in the future.

Lien vers le texte intégral (Open Access ou abonnement)

8. Ding Z, Huang G, Wang T, Duan W, Li H, Wang Y, Jia H, Yang Z, Wang K, Chu X, Kurtz-Nelson EC, Ahlers K, Earl RK, Han Y, Feliciano P, Chung WK, Eichler EE, Jiang M, Xiong B. Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice. Biological psychiatry. 2023.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by deficits in social communication and restricted or repetitive behaviors. Due to the extremely high genetic and phenotypic heterogeneity, it is critical to pinpoint the genetic factors for the understanding of the pathology of these disorders. METHODS: We analyzed the exomes generated by the SPARK project and performed a meta-analysis with previous data. We then generated a zebrafish knockout model and three mouse Gigyf1 knockout models to examine the function of GIGYF1 in neurodevelopment and behavior. Finally, we performed whole tissue and single-nuclei transcriptome analysis to explore the molecular and cellular function of GIGYF1. RESULTS: GIGYF1 variants are significantly associated with various NDD phenotypes including autism, global developmental delay, intellectual disability, sleep disturbance. Loss of GIGYF1 causes similar behavioral effects in zebrafish and mice, including elevated levels of anxiety and reduced social engagements, which is reminiscent of the behavioral deficits in human patients carrying GIGYF1 mutations. Moreover, excitatory neuron-specific Gigyf1 knockout mice recapitulate the increased repetitive behaviors and impaired social memory, suggesting a crucial role of Gigyf1 in excitatory neurons, which correlates with the observations in single nuclei RNAseq. We also identified a series of downstream target genes of GIGYF1 that affects many aspects of the nervous system especially synaptic transmission. CONCLUSION: De novo variants (DNVs) of GIGYF1 are associated with NDDs including ASD. GIGYF1 is involved in neurodevelopment and animal behavior, potentially through regulating hippocampal CA2 neuronal numbers and disturbing synaptic transmission.

Lien vers le texte intégral (Open Access ou abonnement)

9. Eapen V, Karlov L, John JR, Beneytez C, Grimes PZ, Kang YQ, Mardare I, Minca DG, Voicu L, Malek KA, Ramkumar A, Stefanik K, Gyori M, Volgyesi-Molnar M. Quality of life in parents of autistic children: A transcultural perspective. Frontiers in psychology. 2023; 14: 1022094.

INTRODUCTION: The concepts of health, illness, and disability as well as the perceptions of autism and quality of life (QoL) vary greatly across cultures and across time. This study sought to explore the interplay of culture on QoL and impact on parents caring for autistic children. METHODS: We used a transcultural dataset from seven countries (Australia, Hungary, Malaysia, Romania, Singapore, Spain, and the United Kingdom) with participating parents/carers reporting on the Quality of Life in Autism (QoLA) questionnaire. The QoLA questionnaire is a validated measure of QoL for parents of autistic children, with Part A subscale measuring parental QoL and part B subscale assessing the parental impact of the child’s autism spectrum disorder (ASD) symptoms or features. We used the Quade’s ranked analysis of covariance to determine significant differences between the countries in relation to QoLA Part A and Part B scores while adjusting for baseline differences using covariates such as parents’ gender, child’s age, and gender. Additionally, a post-hoc analysis with Bonferroni correction was also conducted to examine multiple pairwise comparisons. RESULTS AND CONCLUSION: We found that while the effect of features of ASD (Part B subscale) stayed strongly comparable between cultures, the self-reported parental QoL was most likely determined by different aspects of culture in different countries. It is concluded that while the ASD symptoms or features appear to affect parents in the same way across different countries, the parental QoL may be a culturally informed construct.

Lien vers le texte intégral (Open Access ou abonnement)

10. Eftekhar M, Panahi Y, Eskandari MR, Pedram M. Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism. Noro psikiyatri arsivi. 2023; 60(1): 43-8.

INTRODUCTION: Copy number variations (CNVs), which are genetic factors responsible for human evolution, have emerged as underlying pathogenic factors for a number of diseases such as autism spectrum disorders (ASD). DUF1220 coding sequences have been shown to be positively associated with the severity of symptoms in familial/multiplex cases of autism. However, this association has not been confirmed in simplex autism, and the potential impact of gender/sex has not been studied. METHODS: Using saliva samples taken from Iranian children with non-syndromic simplex autism, different ethnicity/race and genetic backgrounds from previous studies, we assessed the association between DUF1220 CNVs and Autism Diagnostic Interview-Revised (ADI-R) domain scores in both males and females. RESULTS: In the male and female combined group with autism, in line with previous reports, our findings showed that there were no significant associations between DUF1220 CNVs with either total ADI-R score, social, communication, or repetitive diagnostic scores in simplex autism cases. Interestingly, however, in sex classified groups, despite the insignificant results, our findings in girls with autism showed a negative trend between DUF1220 CNVs and severity of symptoms for the social interaction and communication domains. By contrast, in male children with autism, the results showed a positive trend. CONCLUSION: It seems that association of DUF1220 CNV with the severity of symptoms in simplex children with autism may follow a sexually dimorphic pattern that needs to be re-examined in prospective studies.

Lien vers le texte intégral (Open Access ou abonnement)

11. Elgamal MA, Khodeer DM, Abdel-Wahab BA, Ibrahim IAA, Alzahrani AR, Moustafa YM, Ali AA, El-Sayed NM. Canagliflozin alleviates valproic acid-induced autism in rat pups: Role of PTEN/PDK/PPAR-γ signaling pathways. Frontiers in pharmacology. 2023; 14: 1113966.

Autism is complex and multifactorial, and is one of the fastest growing neurodevelopmental disorders. Canagliflozin (Cana) is an antidiabetic drug that exhibits neuroprotective properties in various neurodegenerative syndromes. This study investigated the possible protective effect of Cana against the valproic acid (VPA)-induced model of autism. VPA was injected subcutaneously (SC) into rat pups at a dose of 300 mg/kg, twice daily on postnatal day-2 (PD-2) and PD-3, and once on PD-4 to induce an autism-like syndrome. Graded doses of Cana were administered (5 mg/kg, 7.5 mg/kg, and 10 mg/kg, P.O.) starting from the first day of VPA injections and continued for 21 days. At the end of the experiment, behavioral tests and histopathological alterations were assessed. In addition, the gene expression of peroxisome proliferator-activated receptor γ (PPAR γ), lactate dehydrogenase A (LDHA), pyruvate dehydrogenase kinase (PDK), cellular myeloctomatosis (c-Myc) with protein expression of glucose transporter-1 (GLUT-1), phosphatase and tensin homolog (PTEN), and level of acetylcholine (ACh) were determined. Treatment with Cana significantly counteracted histopathological changes in the cerebellum tissues of the brain induced by VPA. Cana (5 mg/kg, 7.5 mg/kg, and 10 mg/kg) improved sociability and social preference, enhanced stereotypic behaviors, and decreased hyperlocomotion activity, in addition to its significant effect on the canonical Wnt/β-catenin pathway via the downregulation of gene expression of LDHA (22%, 64%, and 73% in cerebellum tissues with 51%, 60%, and 75% in cerebrum tissues), PDK (27%, 50%, and 67% in cerebellum tissues with 34%, 66%, and 77% in cerebrum tissues), c-Myc (35%, 44%, and 72% in cerebellum tissues with 19%, 58%, and 79% in cerebrum tissues), protein expression of GLUT-1 (32%, 48%, and 49% in cerebellum tissues with 30%, 50%, and 54% in cerebrum tissues), and elevating gene expression of PPAR-γ (2, 3, and 4 folds in cerebellum tissues with 1.5, 3, and 9 folds in cerebrum tissues), protein expression of PTEN (2, 5, and 6 folds in cerebellum tissues with 6, 6, and 10 folds in cerebrum tissues), and increasing the ACh levels (4, 5, and 7 folds) in brain tissues. The current study confirmed the ameliorating effect of Cana against neurochemical and behavioral alterations in the VPA-induced model of autism in rats.

Lien vers le texte intégral (Open Access ou abonnement)

12. Flores AL, Holt S, Lynch MM, Squiers L, Walker K, Ligon J. Tips for health care providers on talking with patients who have intellectual and developmental disabilities about COVID-19. Journal of communication in healthcare. 2022; 15(4): 324-8.

BACKGROUND: One in four American adults reports having at least one disability. The COVID-19 pandemic has disproportionately impacted people with disabilities and widened already-existing health disparities and inequities. For many people with intellectual and developmental disabilities (IDD), these disparities are compounded by literacy limitations that make it challenging to access, understand, and act upon critical COVID-19 prevention information. METHODS: Using a design thinking framework, we conducted interviews with 27 caregivers of adults with IDD who also have extreme low literacy (ELL) to assess COVID-19 information needs and recommendations for how health care providers could best provide COVID-19 information. Based on our findings, we developed a draft tip sheet to help health care providers communicate with adults with IDD/ELL about COVID-19. We then tested the tip sheet with six health care providers via a focus group discussion. We refined and finalized the tip sheet based on our focus group findings. RESULTS: Caregivers noted the importance of visual aids, repetition, empathy and addressing the person with IDD/ELL directly when discussing COVID-19. Many health care providers indicated that the tip sheet would be most helpful for those with limited experience with patients with IDD/ELL and specific instructions for implementing the tips would be important. CONCLUSIONS: We developed an evidence-informed tip sheet to facilitate communication between health care providers and adults with IDD/ELL and their caregivers, particularly around COVID-19.

Lien vers le texte intégral (Open Access ou abonnement)

13. Gonçalves AM, Monteiro P. Autism Spectrum Disorder and auditory sensory alterations: a systematic review on the integrity of cognitive and neuronal functions related to auditory processing. Journal of neural transmission (Vienna, Austria : 1996). 2023.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with a wide spectrum of symptoms, mainly characterized by social, communication, and cognitive impairments. Latest diagnostic criteria according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, 2013) now include sensory issues among the four restricted/repetitive behavior features defined as « hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment ». Here, we review auditory sensory alterations in patients with ASD. Considering the updated diagnostic criteria for ASD, we examined research evidence (2015-2022) of the integrity of the cognitive function in auditory-related tasks, the integrity of the peripheral auditory system, and the integrity of the central nervous system in patients diagnosed with ASD. Taking into account the different approaches and experimental study designs, we reappraise the knowledge on auditory sensory alterations and reflect on how these might be linked with behavior symptomatology in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

14. Guzick AG, Schneider SC, Perozo Garcia AB, Kook M, Greenberg RL, Riddle D, McNeel M, Rodriguez-Barajas S, Yang M, Upshaw B, Storch EA. Development and pilot testing of internet-delivered, family-based cognitive behavioral therapy for anxiety and obsessive-compulsive disorders in autistic youth. Journal of obsessive-compulsive and related disorders. 2023; 37.

Cognitive behavioral therapy adapted for autistic youth with anxiety and/or OCD has a strong evidence base, but few have access. A 12-week family-based, Internet-delivered cognitive behavioral therapy (iCBT) program for 7-15 year-old autistic youth with anxiety and/or OCD was developed as a potential method to address this problem. Quantitative and qualitative feedback from stakeholders (parents, youth, clinicians) was gathered on an initial draft of content before conducting a pilot trial. This feedback suggested high quality, engagement, usability, and informativeness of the material. Suggestions were incorporated into the treatment program that was tested in a pilot trial. Eight families were randomized to the iCBT program with either 1) weekly email support or 2) weekly email support plus biweekly telehealth check-ins, and seven of these families completed pre- and post-treatment assessments. An average reduction of 39% in anxiety severity was found, with six of the seven being classified as responders. Preliminary evidence suggests that family-based iCBT is an acceptable and promising treatment for autistic youth with anxiety and/or obsessive-compulsive disorders that should be further modified and tested in future work.

Lien vers le texte intégral (Open Access ou abonnement)

15. Hassan ZR, Zekry KM, Heikal EA, Ibrahim HF, Khirala SK, Abd El-Hamid SM, Amin DR, Seliem N, El-Aal GNA, Alkherkhisy MM, Elhamid SAA, Mahgoub EA, Hefny MEN, El Nady GH, Badr MS. Toxoplasmosis and cytomegalovirus infection and their role in Egyptian autistic children. Parasitology research. 2023.

Autism is a neurodevelopmental disorder with a significantly increased incidence rate across the world over the past few years. Toxoplasmosis and cytomegalovirus (CMV) infection are globally prevalent and have been associated with diverse neurological and psychiatric disorders. A few studies have demonstrated the role of toxoplasmosis and CMV as potential etiological factors for autism. Accordingly, this study was performed to estimate the relationship between toxoplasmosis and CMV infection in children with autism as well as to assess their impact on the Childhood Autism Rating Scale (CARS) score. A total of 45 autistic children (6 girls, 39 boys) and 45 (21 girls, 24 boys) healthy control children were enrolled in our study. Their blood samples were collected and tested for the presence of Toxoplasma and CMV (IgG and IgM) antibodies and DNA by ELISA and real-time PCR (RT-PCR), respectively. Toxoplasmosis was detected in 11 (24.4%) autistic children through the ELISA [10 (22.2%) IgG + /IgM - and 1 (2.2%) IgG + /IgM +]; however, RT-PCR assay recorded only 1 positive case (2.2%), while it was detected in 10 (22.2%) control children through ELISA [9 (20%) IgG + /IgM - and 1 (2.2%) IgG + /IgM +] and 1 (2.2%) by RT-PCR. On the other hand, CMV infection was detected in all autistic children with 44 (97.8%) testing positive by ELISA [24 (53.3%) IgG + /IgM - , 18 (40%) IgG + /IgM + and 2 (4.4%) IgG - /IgM +] and 25 (55.6%) testing positive by RT-PCR assay. In addition, ELISA assay recorded 43 (95.6%) [19 (42.2%) IgG + /IgM + and 22 (48.9%) IgG + /IgM - and 2 (4.4%) IgG-/IgM +] and RT-PCR recorded 21 (46.7%) positive samples in control children with CMV. No significant difference was noted between autistic and control children for the overall prevalence of Toxoplasma or/and CMV infection. Similarly, the CARS score indicated a non-significant difference with Toxoplasma or/and CMV infection. Our data does not show an association between autism and toxoplasmosis or/and CMV infection. Nevertheless, considering that autistic children are at a high risk of contracting these infections, further studies with a larger sample size are recommended.

Lien vers le texte intégral (Open Access ou abonnement)

16. Horvath S, Arunachalam S. Assessing receptive verb knowledge in late talkers and autistic children: Advances and cautionary tales. Research square. 2023.

Purpose Using eye-tracking, we assessed the receptive verb vocabularies of late talkers and typically developing children (Experiment 1) and autistic preschoolers (Experiment 2). We evaluated how many verbs participants knew and how quickly they processed the linguistic prompt. Method Participants previewed two dynamic scenes side-by-side (e.g., « stretching » and « clapping ») and were then prompted to find the target verb. Children’s eye gaze behaviors were operationalized using established approaches in the field with modifications in consideration for the type of stimuli (dynamic scenes versus static images) and the populations included. Accuracy was calculated as a proportion of time spent looking to the target, and linguistic processing was operationalized as latency of children’s first look to the target. Results In Experiment 1, there were no group differences in the proportion of verbs known, but late talkers required longer to demonstrate their knowledge than typically developing children. Latency was predicted by age but not language abilities. In Experiment 2, autistic children’s accuracy and latency were both predicted by receptive language abilities. Conclusion Eye gaze can be used to assess receptive verb vocabulary in a variety of populations, but in operationalizing gaze behavior, we must account for between- and within-group differences. Bootstrapped cluster-permutation analysis is one way to create individualized measures of children’s gaze behavior, but more research is warranted using an individual differences approach with this type of analysis. Finally, latency may not be a valid measure for dynamic scene stimuli for children under three years old.

Lien vers le texte intégral (Open Access ou abonnement)

17. Livingston LA, Shah P, Happé F. EXPRESS: Linearly Integrating Speed and Accuracy to Measure Individual Differences in Theory of Mind: Evidence from Autistic and Neurotypical Adults. Quarterly journal of experimental psychology (2006). 2023: 17470218231165251.

It has long been theorised that there is a direct link between individual differences in social cognition and behaviour. One of the most popular tests of this theory has involved examination of Theory of Mind (ToM) difficulties in Autism Spectrum Disorder (ASD). However, evidence for associations between ToM and social behaviour is mixed, both when testing the ToM explanation of ASD and when investigating individual differences in ToM in the general population. We argue that this is due to methodological limitations of many ToM measures, such as a lack of variability in task performance, inappropriate non-ToM control tasks, and a failure to account for general mental ability. To overcome these issues, we designed a novel task, which probed individual differences in ToM fluency through mental state attribution in response to cartoons (CarToM). This task, enabling the linear combination of speed and accuracy, was used to quantify ToM ability and its association with self-reported (a)typical social behaviour in adults with and without ASD. In a large sample (N = 237), we found that having an ASD diagnosis and higher autistic traits predicted lower ToM ability, even after accounting for performance on a well-matched non-ToM condition and general mental ability. Overall, our findings provide fresh support for the existence of a link between individual differences in social cognition (specifically, ToM) and behaviour (specifically, ASD/autistic traits). This has implications for social-cognitive theory and research, allowing large-scale, online assessment of individual differences in ToM in clinical groups and the general population.

Lien vers le texte intégral (Open Access ou abonnement)

18. Loth E. Does the current state of biomarker discovery in autism reflect the limits of reductionism in precision medicine? Suggestions for an integrative approach that considers dynamic mechanisms between brain, body, and the social environment. Frontiers in psychiatry. 2023; 14: 1085445.

Over the past decade, precision medicine has become one of the most influential approaches in biomedical research to improve early detection, diagnosis, and prognosis of clinical conditions and develop mechanism-based therapies tailored to individual characteristics using biomarkers. This perspective article first reviews the origins and concept of precision medicine approaches to autism and summarises recent findings from the first « generation » of biomarker studies. Multi-disciplinary research initiatives created substantially larger, comprehensively characterised cohorts, shifted the focus from group-comparisons to individual variability and subgroups, increased methodological rigour and advanced analytic innovations. However, although several candidate markers with probabilistic value have been identified, separate efforts to divide autism by molecular, brain structural/functional or cognitive markers have not identified a validated diagnostic subgroup. Conversely, studies of specific monogenic subgroups revealed substantial variability in biology and behaviour. The second part discusses both conceptual and methodological factors in these findings. It is argued that the predominant reductionist approach, which seeks to parse complex issues into simpler, more tractable units, let us to neglect the interactions between brain and body, and divorce individuals from their social environment. The third part draws on insights from systems biology, developmental psychology and neurodiversity approaches to outline an integrative approach that considers the dynamic interaction between biological (brain, body) and social mechanisms (stress, stigma) to understanding the origins of autistic features in particular conditions and contexts. This requires 1) closer collaboration with autistic people to increase face validity of concepts and methodologies; (2) development of measures/technologies that enable repeat assessment of social and biological factors in different (naturalistic) conditions and contexts, (3) new analytic methods to study (simulate) these interactions (including emergent properties), and (4) cross-condition designs to understand which mechanisms are transdiagnostic or specific for particular autistic sub-populations. Tailored support may entail both creating more favourable conditions in the social environment and interventions for some autistic people to increase well-being.

Lien vers le texte intégral (Open Access ou abonnement)

19. Luo L, Li T, Wu Q, Yuan B, Hu C, Yang T, Wei H, Chen J. Retinoic acid administration normalizes aberrant microglial activation via regulating TREM2 transcription in the PFC of valproic acid induced autism rat. Neuroscience letters. 2023: 137193.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disease with an unclear underlying pathogenesis. Disruption of retinoic acid (RA)-retinoic acid receptor α (RARα) signaling and aberrant microglial activation were reported to be involved in the pathogenesis of ASD. However, the effect of RA-RARα signaling on microglial activation in ASD and the underlying mechanisms are unknown. Herein, we found inhibited RA-RARα signaling and increased microglial activation in valproic acid (VPA)-induced autism rats. Furthermore, we administered RA to VPA rats and found that RA ameliorated autism-like behaviors, inhibited microglial activation and normalized microglial polarization in VPA rats. Additionally, the expression levels of RARα and triggering receptor expressed on myeloid cells 2 (TREM2) were increased in the prefrontal cortex (PFC) of VPA rats given RA. Chromatin immunoprecipitation (ChIP) and dual luciferase reporter assays confirmed that RARα can regulate the transcriptional activity of the TREM2 gene by binding to its promoter. We conclude that RA administration ameliorates autism-like behaviors in VPA rats by inhibiting microglial activation and normalizing microglial polarization through the regulation of TREM2 transcription by RARα.

Lien vers le texte intégral (Open Access ou abonnement)

20. Nair MKC, Radhakrishnan R, Olusanya BO. Promoting school readiness in children with developmental disabilities in LMICs. Frontiers in public health. 2023; 11: 993642.

The United Nations’ Sustainable Development Goals (SDGs) explicitly acknowledge inclusive and equitable quality education as the primary goal of any global initiatives for early childhood development for children under 5 years with developmental delays and disabilities. Primary education provides the foundation for lifelong learning, vocational attainment, and economically independent living. Globally, the majority (over 90%) of children with developmental disabilities reside in low- and middle-income countries (LMICs). These children are significantly less likely to have foundational reading and numeracy skills, more likely to have never attended school and more likely to be out of primary school, compared to children without disabilities. Concerted and well-coordinated efforts to prepare these children in early childhood for inclusive education constitute a moral and ethical priority for all countries. This paper sets out to examine the concept and dimensions of school readiness for children under 5 years from an extensive narrative review of the literature. It identifies the barriers and challenges for school readiness for children with disabilities and the limitations of the available tools for evaluating school readiness. It concludes by emphasizing the critical role of inter-disciplinary engagement among pediatric caregivers in promoting school readiness in partnership with the families and community where the children reside. Overall, the paper highlights the need for appropriate policy initiatives at the global and national levels to promote school readiness specifically for children under 5 years with developmental disabilities in LMICs, if the aspirational goal of inclusive education by 2030 under the SDGs is to be realized.

Lien vers le texte intégral (Open Access ou abonnement)

21. Rieder AD, Viljoen M, Seris N, Shabalala N, Ndlovu M, Turner EL, Simmons R, Vries PJ, Franz L. Improving access to early intervention for autism – findings from a proof-of-principle cascaded task-sharing naturalistic developmental behavioural intervention in South Africa. Research square. 2023.

Background Despite the high number of children living with neurodevelopmental disabilities in sub-Saharan Africa, access to early intervention is almost non-existent. It is therefore important to develop feasible, scalable early autism intervention that can be integrated into systems of care. While Naturalistic Developmental Behavioural Intervention (NDBI) has emerged as an evidence-based intervention approach, implementation gaps exist globally, and task-sharing approaches may address access gaps. In this South African proof-of-principle pilot study, we set out to answer two questions about a 12-session cascaded task-sharing NDBI – whether the approach could be delivered with fidelity, and whether we could identify signals of change in child and caregiver outcomes. Methods We utilized a single-arm pre-post design. Fidelity (non-specialists, caregivers), caregiver outcomes (stress, sense of competence), and child outcomes (developmental, adaptive) were measured at baseline (T1) and follow-up (T2). Ten caregiver-child dyads and four non-specialists participated. Pre-to-post summary statistics were presented alongside individual trajectories. Non-parametric Wilcoxon signed rank test for paired samples was used to compare group medians between T1 and T2. Results Caregiver implementation fidelity increased in 10/10 participants. Non-specialists demonstrated a significant increase in coaching fidelity (increases in 7/10 dyads). Significant gains were seen on two Griffiths-III subscales (Language/Communication – 9/10 improved, Foundations of Learning – 10/10 improved) and on the General Developmental Quotient (9/10 improved). Significant gains were also seen on two Vineland Adaptive Behaviour Scales (Third Edition) subscales (Communication – 9/10 improved, Socialization – 6/10 improved) and in the Adaptive Behaviour Standard Score (9/10 improved). Caregiver sense of competence improved in 7/10 caregivers and caregiver stress in 6/10 caregivers. Conclusions This proof-of-principle pilot study of the first cascaded task-sharing NDBI in Sub-Saharan Africa provided fidelity and intervention outcome data which supported the potential of such approaches in low-resource contexts. Larger studies are needed to expand on the evidence-base and answer questions on intervention effectiveness and implementation outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

22. Socrates A, Mullins N, Gur R, Gur R, Stahl E, P OR, Reichenberg A, Jones H, Zammit S, Velthorst E. Polygenic risk of Social-isolation and its influence on social behavior, psychosis, depression and autism spectrum disorder. Research square. 2023.

Social-isolation has been linked to a range of psychiatric issues, but the behavioral component that drives it is not well understood. Here, a GWAS is carried out to identify genetic variants which contribute to Social-isolation behaviors in up to 449,609 participants from the UK Biobank. 17 loci were identified at genome-wide significance, contributing to a 4% SNP heritability estimate. Using the Social-isolation GWAS, polygenic risk scores (PRS) were derived in ALSPAC, an independent, developmental cohort, and used to test for association with friendship quality. At age 18, friendship scores were associated with the Social-isolation PRS, demonstrating that the genetic factors are able to predict related social traits. LD score regression using the GWAS demonstrated genetic correlation with autism spectrum disorder, schizophrenia, and major depressive disorder. However, no evidence of causality was found using a conservative Mendelian randomization approach other than that of autism spectrum disorder on Social-isolation. Our results show that Social-isolation has a small heritable component which may drive those behaviors which is associated genetically with other social traits such as friendship satisfaction as well as psychiatric disorders.

Lien vers le texte intégral (Open Access ou abonnement)

23. Stogios N, Hahn MK, Lunsky Y, Desarkar P, Agarwal SM. Metformin for the treatment of antipsychotic-induced metabolic disturbances in people with intellectual and developmental disabilities. Journal of psychiatry & neuroscience : JPN. 2023; 48(2): E99-e101.

Lien vers le texte intégral (Open Access ou abonnement)

24. Tang B, Levine M, Adamek JH, Wodka EL, Caffo BS, Ewen JB. Evaluating causal psychological models: A study of language theories of autism using a large sample. Frontiers in psychology. 2023; 14: 1060525.

We used a large convenience sample (n = 22,223) from the Simons Powering Autism Research (SPARK) dataset to evaluate causal, explanatory theories of core autism symptoms. In particular, the data-items collected supported the testing of theories that posited altered language abilities as cause of social withdrawal, as well as alternative theories that competed with these language theories. Our results using this large dataset converge with the evolution of the field in the decades since these theories were first proposed, namely supporting primary social withdrawal (in some cases of autism) as a cause of altered language development, rather than vice versa. To accomplish the above empiric goals, we used a highly theory-constrained approach, one which differs from current data-driven modeling trends but is coherent with a very recent resurgence in theory-driven psychology. In addition to careful explication and formalization of theoretical accounts, we propose three principles for future work of this type: specification, quantification, and integration. Specification refers to constraining models with pre-existing data, from both outside and within autism research, with more elaborate models and more veridical measures, and with longitudinal data collection. Quantification refers to using continuous measures of both psychological causes and effects, as well as weighted graphs. This approach avoids « universality and uniqueness » tests that hold that a single cognitive difference could be responsible for a heterogeneous and complex behavioral phenotype. Integration of multiple explanatory paths within a single model helps the field examine for multiple contributors to a single behavioral feature or to multiple behavioral features. It also allows integration of explanatory theories across multiple current-day diagnoses and as well as typical development.

Lien vers le texte intégral (Open Access ou abonnement)

25. Turner KM, Weiss JA, Howe SJ, Sanguino H, Kerns CM, Ames ME, McMorris CA. Autistic characteristics and mental health symptoms in autistic youth during the first COVID-19 wave in Canada. Autism research : official journal of the International Society for Autism Research. 2023.

Autistic youth are at heightened risk for mental health issues, and pandemic-related stressors may exacerbate this risk. This study (1) described caregiver-reported youth mental health prior to and during the pandemic; and (2) explored individual, caregiver, and environmental factors associated with changes in autistic characteristics, social-emotional symptoms, and overall mental health. 582 caregivers of autistic children (2-18 years old) completed an online survey between June and July 2020 in which they provided demographic information, their child’s pre-COVID and current mental health, autistic characteristics, and social-emotional symptoms. Caregivers also rated their own perceived stress, and COVID-related household and service disruption. According to caregivers, youth experienced more autistic characteristics and social-emotional concerns during the pandemic. Autistic youth were also reported to experience poorer overall mental health during the pandemic than before the pandemic. Older youth whose caregiver’s indicated higher perceived stress and greater household disruption were reported to experience more autistic traits during pandemic. Caregiver-reported increases in youth social-emotional symptoms (i.e., behavior problems, anxiety, and low mood) was associated with being older, the presence of a pre-existing mental health condition, higher caregiver stress, and greater household and service disruption. Finally, experiencing less household financial hardship prior to COVID-19, absence of a pre-existing psychiatric condition, less caregiver stress, and less service disruption were associated with better youth pandemic mental health. Strategies to support the autistic community during and following the pandemic need to be developed. The developmental-ecological factors identified in this study could help target support strategies to those autistic youth who are most vulnerable to mental health problems.

Lien vers le texte intégral (Open Access ou abonnement)

26. Vandewouw MM, Brian J, Crosbie J, Schachar RJ, Iaboni A, Georgiades S, Nicolson R, Kelley E, Ayub M, Jones J, Taylor MJ, Lerch JP, Anagnostou E, Kushki A. Identifying Replicable Subgroups in Neurodevelopmental Conditions Using Resting-State Functional Magnetic Resonance Imaging Data. JAMA network open. 2023; 6(3): e232066.

IMPORTANCE: Neurodevelopmental conditions, such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), have highly heterogeneous and overlapping phenotypes and neurobiology. Data-driven approaches are beginning to identify homogeneous transdiagnostic subgroups of children; however, findings have yet to be replicated in independently collected data sets, a necessity for translation into clinical settings. OBJECTIVE: To identify subgroups of children with and without neurodevelopmental conditions with shared functional brain characteristics using data from 2 large, independent data sets. DESIGN, SETTING, AND PARTICIPANTS: This case-control study used data from the Province of Ontario Neurodevelopmental (POND) network (study recruitment began June 2012 and is ongoing; data were extracted April 2021) and the Healthy Brain Network (HBN; study recruitment began May 2015 and is ongoing; data were extracted November 2020). POND and HBN data are collected from institutions across Ontario and New York, respectively. Participants who had diagnoses of ASD, ADHD, and OCD or were typically developing (TD); were aged between 5 and 19 years; and successfully completed the resting-state and anatomical neuroimaging protocol were included in the current study. MAIN OUTCOMES AND MEASURES: The analyses consisted of a data-driven clustering procedure on measures derived from each participant’s resting-state functional connectome, performed independently on each data set. Differences between each pair of leaves in the resulting clustering decision trees in the demographic and clinical characteristics were tested. RESULTS: Overall, 551 children and adolescents were included from each data set. POND included 164 participants with ADHD; 217 with ASD; 60 with OCD; and 110 with TD (median [IQR] age, 11.87 [9.51-14.76] years; 393 [71.2%] male participants; 20 [3.6%] Black, 28 [5.1%] Latino, and 299 [54.2%] White participants) and HBN included 374 participants with ADHD; 66 with ASD; 11 with OCD; and 100 with TD (median [IQR] age, 11.50 [9.22-14.20] years; 390 [70.8%] male participants; 82 [14.9%] Black, 57 [10.3%] Hispanic, and 257 [46.6%] White participants). In both data sets, subgroups with similar biology that differed significantly in intelligence as well as hyperactivity and impulsivity problems were identified, yet these groups showed no consistent alignment with current diagnostic categories. For example, there was a significant difference in Strengths and Weaknesses ADHD Symptoms and Normal Behavior Hyperactivity/Impulsivity subscale (SWAN-HI) between 2 subgroups in the POND data (C and D), with subgroup D having increased hyperactivity and impulsivity traits compared with subgroup C (median [IQR], 2.50 [0.00-7.00] vs 1.00 [0.00-5.00]; U = 1.19 × 104; P = .01; η2 = 0.02). A significant difference in SWAN-HI scores between subgroups g and d in the HBN data was also observed (median [IQR], 1.00 [0.00-4.00] vs 0.00 [0.00-2.00]; corrected P = .02). There were no differences in the proportion of each diagnosis between the subgroups in either data set. CONCLUSIONS AND RELEVANCE: The findings of this study suggest that homogeneity in the neurobiology of neurodevelopmental conditions transcends diagnostic boundaries and is instead associated with behavioral characteristics. This work takes an important step toward translating neurobiological subgroups into clinical settings by being the first to replicate our findings in independently collected data sets.

Lien vers le texte intégral (Open Access ou abonnement)

27. Villa PA, Lainez NM, Jonak CR, Berlin SC, Ethell IM, Coss D. Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation. Frontiers in endocrinology. 2023; 14: 1129534.

INTRODUCTION: Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability. Mutations of FMR1 are also associated with reproductive disorders, such as early cessation of reproductive function in females. While progress has been made in understanding the mechanisms of mental impairment, the causes of reproductive disorders are not clear. FMR1-associated reproductive disorders were studied exclusively from the endocrine perspective, while the FMR1 role in neurons that control reproduction was not addressed. RESULTS: Here, we demonstrate that similar to women with FMR1 mutations, female Fmr1 null mice stop reproducing early. However, young null females display larger litters, more corpora lutea in the ovaries, increased inhibin, progesterone, testosterone, and gonadotropin hormones in the circulation. Ovariectomy reveals both hypothalamic and ovarian contribution to elevated gonadotropins. Altered mRNA and protein levels of several synaptic molecules in the hypothalamus are identified, indicating reasons for hypothalamic dysregulation. Increased vascularization of corpora lutea, higher sympathetic innervation of growing follicles in the ovaries of Fmr1 nulls, and higher numbers of synaptic GABA(A) receptors in GnRH neurons, which are excitatory for GnRH neurons, contribute to increased FSH and LH, respectively. Unmodified and ovariectomized Fmr1 nulls have increased LH pulse frequency, suggesting that Fmr1 nulls exhibit hyperactive GnRH neurons, regardless of the ovarian feedback. CONCLUSION: These results reveal Fmr1 function in the regulation of GnRH neuron secretion, and point to the role of GnRH neurons, in addition to the ovarian innervation, in the etiology of Fmr1-mediated reproductive disorders.

Lien vers le texte intégral (Open Access ou abonnement)

28. Wang B, Li YD, Wang ZY, Zhao JQ, Zhang GQ, Man MQ. Alterations in Epidermal Biophysical Properties in Autistic Children. Skin pharmacology and physiology. 2023.

Autism is a neurodevelopmental disorder. Individuals with autism can exhibit multiple neurological symptoms such as deficit in social communication, restricted interests and repetitive behaviors. Recent study showed that murine model of autism displays an increased transepidermal water loss (TEWL) and dry skin. But whether epidermal functions are also altered in children with autism is unknown. In the present study, TEWL, stratum corneum hydration and skin surface pH were compared between children with autism (N=56) and normal controls (N=48). Our results showed that children with autism exhibited lower stratum corneum hydration levels, higher TEWL and elevated skin surface pH in comparison to normal controls (p<0.0001 for all). These results demonstrate that children with autism exhibit epidermal dysfunction.

Lien vers le texte intégral (Open Access ou abonnement)

29. Xie F, Pascual E, Oakley T. Functional echolalia in autism speech: Verbal formulae and repeated prior utterances as communicative and cognitive strategies. Frontiers in psychology. 2023; 14: 1010615.

Echolalia, the echoing of prior speech, is a typical characteristic of autism. Long considered meaningless repetition to be avoided, echolalia may in fact be used functionally in autism. This paper explores the functions of echolalia by children with autism. Based on two prior studies, we designed an elicitation task involving images of 12 professions (teacher) and 12 objects (birthday cake) commonly associated with given conventionalized expressions in Mandarin (e.g., « sheng ri kuai le! » ‘Happy birthday!’). Eight Chinese children with autism (mean age: 55.50 ± 8.64) were asked to name and describe these images. All our participants produced a relatively high proportion of echolalia, mostly for naming, description, and topic development, a small percentage being used as conversation maintenance strategy or as cognitive strategy. This indicates that echolalia is often used communicatively in autism speech.

Lien vers le texte intégral (Open Access ou abonnement)

30. Zhang X, Kern ZG, Yun J. Physical Activity and Mental Health of Parents of Children With Autism Spectrum Disorder. Adapted physical activity quarterly : APAQ. 2023: 1-15.

This study aimed to examine physical activity (PA) levels and mental health status (i.e., anxiety and depression) among parents of children with autism spectrum disorder (ASD). Secondary data analysis was conducted using the 2018 National Health Interview Survey. We identified 139 parents of children with ASD and 4,470 parents of children with no disability. Their PA levels, anxiety, and depression were analyzed. Compared with parents of children with no disability, parents of children with ASD were significantly less likely to meet the PA guideline for Americans and had lower odds of vigorous PA (aOR = 0.702), strengthening PA (aOR = 0.885), and light to moderate PA (aOR = 0.994). Parents of children with ASD reported significantly higher odds of anxiety (aOR = 1.559) and depression (aOR = 1.885). This study revealed lower PA levels and higher risks of anxiety and depression in parents of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

31. Zhao Y, Luo Y, Zhang R, Zheng X. The impact of COVID-19 pandemic on emotional and behavioral problems of children with autism spectrum disorder and developmental delay aged 1-6 years in China. Frontiers in psychiatry. 2023; 14: 1134396.

INTRODUCTION: The COVID-19 pandemic outbreak have caused increased levels of emotional and behavioral problems, particularly among people with pre-existing mental health conditions. Young individuals with autism spectrum disorders (ASD) and developmental delay (DD) are particularly at risk due to their vulnerability. The purpose of this study was to look into the different effects of the COVID-19 pandemic on 1-6-year-old children with ASD and DD. METHODS: Parents and guardians of children with ASD completed an online survey that included questions about their children’s socio-demographics characteristics, the effects of the COVID-19 outbreak on their health, and what they needed in order to deal with the conditions of the pandemic. RESULTS: This study compared 4,138 children with ASD to 711 children with DD. Children with ASD had a higher risk of having more emotional and behavioral problems than children with DD (OR 1.38, 95% CI 1.12-1.70). Compared to parent-oriented rehabilitation at home, discontinuing rehabilitation had a higher likelihood of negative emotional and behavioral change (OR 1.67, 95% CI 1.41-1.98). Having teachers’ online support had a higher likelihood of negative emotional and behavioral change for ASD children (OR 1.26, 95% CI 1.03-1.54). CONCLUSIONS: This article provided evidence that children with developmental disabilities, particularly ASD, were at risk for a variety of challenges to their emotional functioning during the COVID-19 period, and that online support was not an ideal way for children with ASD to receive effective educational intervention in China.

Lien vers le texte intégral (Open Access ou abonnement)

32. Zhou L, Porterfield SL, Fang S, Huang J, Zhang Y. Unintentional Injuries among Children with Developmental Disabilities are a Public Health Challenge in China. Child: care, health and development. 2023.

Child injury is a significant global health issue that contributes to both morbidity and mortality in children. Children with developmental disabilities are at a high risk for injuries due to a combination of environmental barriers and health conditions. However, little research has assessed the prevalence of injuries among this population in China. Using administrative data from a micro insurance program for children with developmental disabilities (such as autism, intellectual disability, cerebral palsy, and Down syndrome) under the age of 19, we estimated the risk of unintentional injuries reported in insurance claims. Between 2017 and 2020, there were 190 insurance claims (0•53%) reporting nonfatal unintentional injuries and six reporting fatal injuries. The cumulative hazard rate of unintentional injuries by the end of one year is 1•21% and is negatively associated with children’s age. These findings suggest the need for increased safety support for children with developmental disabilities, particularly in early childhood.

Lien vers le texte intégral (Open Access ou abonnement)

33. Zohny SM, Habib MZ, Mohamad MI, Elayat WM, Elhossiny RM, El-Salam MFA, Hassan GAM, Aboul-Fotouh S. Memantine/Aripiprazole Combination Alleviates Cognitive Dysfunction in Valproic Acid Rat Model of Autism: Hippocampal CREB/BDNF Signaling and Glutamate Homeostasis. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2023.

Significant efforts are increasingly directed towards identifying novel therapeutic targets for autism spectrum disorder (ASD) with a rising role of aberrant glutamatergic transmission in the pathogenesis of ASD-associated cellular and behavioral deficits. This study aimed at investigating the role of chronic memantine (20 mg/kg/day) and aripiprazole (3 mg/kg/day) combination therapy in the management of prenatal sodium valproate (VPA)-induced autistic-like/cognitive deficits in male Wistar rats. Pregnant female rats received a single intraperitoneal injection of VPA (600 mg/kg) to induce autistic-like behaviors in their offspring. Prenatal VPA induced autistic-like symptoms (decreased social interaction and the appearance of stereotyped behavior) with deficits in spatial learning (in Morris water maze) and cognitive flexibility (in the attentional set-shifting task) in addition to decreased hippocampal protein levels of phosphorylated cAMP response element-binding protein (p-CREB), brain-derived neurotrophic factor (BDNF), and gene expression of glutamate transporter-1 (Glt-1) with a decline in GABA/glutamate ratio (both measured by HPLC). These were accompanied by the appearance of numerous neurofibrillary tangles (NFTs) with enhanced apoptosis in hippocampal sections. Memantine/aripiprazole combination increased the protein levels of p-CREB, BDNF, and Glt-1 gene expression with restoration of GABA/glutamate balance, attenuation of VPA-induced neurodegenerative changes and autistic-like symptoms, and improvement of cognitive performance. This study draws attention to the favorable cognitive effects of memantine/aripiprazole combination in autistic subjects which could be mediated via enhancing CREB/BDNF signaling with increased expression of astrocytic Glt-1 and restoration of GABA/glutamate balance, leading to inhibition of hippocampal NFTs formation and neuronal apoptosis.

Lien vers le texte intégral (Open Access ou abonnement)

34. Zorzi S, Dalmonego C, De Vreese LP, Gomiero T. Adult Independence Living Measurement Scale: Psychometric validation of a scale to estimate personal skills for independent living in people with intellectual and developmental disabilities. Journal of intellectual disability research : JIDR. 2023.

BACKGROUND: The United Nations has declared that people with disabilities should be enabled to live as independently as possible, since independence is correlated with a better quality of life. Consequently, services need to have common and validated measurement tools for the evaluation of the different levels of personal support needs in order to promote independent living skills. We aimed to create and validate the Adult Independence Living Measurement Scale (AILMS) to estimate personal skills considered tantamount for independent living in adult persons with intellectual and developmental disabilities. METHODS: AILMS is a short informant-rated assessment tool consisting of 19 items (goals) regarding the most important skills related to independent living. AILMS total score is directly proportional to the degree of independence, with scores ranging from 19 to 76. Our validation is a multicentre study attended by 243 subjects, 110 female and 123 males, with a median age of 37 years and with an interquartile range (IQR) of 18 (25th percentile [Q1] 29 years to 75th percentile [Q3] 47 years). All subjects had a diagnosis of intellectual disability associated with various neurodevelopmental disorders or syndromic conditions. RESULTS: The AILMS shows a wide range of scores with a minimum score of 21 and a maximum of 72. We found no floor or ceiling effects for the total score on the AILMS. Cronbach’s α coefficient (= 0.95), based on the 19 AILMS items, indicated high internal consistency. The tool demonstrates a very good agreement even when comparing the results submitted by two different interviewers. It also shows an excellent temporal stability of 1 week, with intraclass correlation coefficients both of 0.97. AILMS total scores do not differ by sex or age, while statistically significant differences are observed between people with different levels of severity of ID. Convergent validity of AILMS was analysed by correlating its total scores with the Italian validated versions of the Support Intensity Scale (SIS-I) and the Alzheimer’s Functional Assessment Tool (AFAST-I) scores. Strong inverse Spearman correlations coefficients (r(s) ) were found both for the Support Need Index of the SIS-I (r(s) = -0.66; P < 0.001) and AFAST-I (r(s) = -0.73; P < 0.001). Scores of support needs in exceptional health disorders of the SIS-I appear unrelated to AILMS total scores (r(s) = -0.01; P = 0.05), confirming the divergent validity of the new scale. Exploratory factor analysis reveals three underlying factors within the AILMS, with factor 1 explaining 51.2% of the total variance (Cronbach's α = 0.92) composed of predominantly nine advanced daily activities. CONCLUSIONS: The AILMS has good psychometric properties and user friendliness and may therefore be a valuable addition to the current informant-rated tools for screening and assessment of independent living skills of individuals with intellectual and developmental disabilities.

Lien vers le texte intégral (Open Access ou abonnement)