Pubmed du 20/03/24

Pubmed du jour

1. Correction: Can we distinguish the consequences of early maltreatment on child behaviour from idiopathic autism?. Arch Dis Child. 2024; 109(4): e3.

Lien vers le texte intégral (Open Access ou abonnement)

2. Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Züchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024.

ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.

Lien vers le texte intégral (Open Access ou abonnement)

3. Egilmezer E, Hamilton ST, Foster CSP, Marschall M, Rawlinson WD. Human cytomegalovirus (CMV) dysregulates neurodevelopmental pathways in cerebral organoids. Commun Biol. 2024; 7(1): 340.

Human cytomegalovirus (CMV) infection is the leading non-genetic aetiology of congenital malformation in developed countries, causing significant fetal neurological injury. This study investigated potential CMV pathogenetic mechanisms of fetal neural malformation using in vitro human cerebral organoids. Cerebral organoids were permissive to CMV replication, and infection dysregulated cellular pluripotency and differentiation pathways. Aberrant expression of dual-specificity tyrosine phosphorylation-regulated kinases (DYRK), sonic hedgehog (SHH), pluripotency, neurodegeneration, axon guidance, hippo signalling and dopaminergic synapse pathways were observed in CMV-infected organoids using immunofluorescence and RNA-sequencing. Infection with CMV resulted in dysregulation of 236 Autism Spectrum Disorder (ASD)-related genes (p = 1.57E-05) and pathways. This notable observation suggests potential links between congenital CMV infection and ASD. Using DisGeNET databases, 103 diseases related to neural malformation or mental disorders were enriched in CMV-infected organoids. Cytomegalovirus infection-related dysregulation of key cerebral cellular pathways potentially provides important, modifiable pathogenetic mechanisms for congenital CMV-induced neural malformation and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

4. Ellis K, White S, Dziwisz M, Agarwal P, Moss J. Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes. Cortex. 2024; 174: 110-24.

BACKGROUND: Gaze following difficulties are considered an early marker of autism, thought likely to cumulatively impact the development of social cognition, language and social skills. Subtle differences in gaze following abilities may contribute to the diverse range social and communicative autistic characteristics observed across people with genetic syndromes, such as Cornelia de Lange (CdLS) and fragile X (FXS) syndromes. AIMS: To compare profiles of 1) visual attention to the eye region at critical points of the attention direction process, 2) whether children follow the gaze cue to the object, and 3) participant looking time to the target object following the gaze cue between groups and conditions. MATERIALS AND METHODS: Children with CdLS (N = 11) and FXS (N = 8) and autistic (N = 22) and neurotypical (N = 15) children took part in a passive viewing paradigm adapted from Senju and Csibra (2008), in which videos of a central cue (ball/cartoon face/human face) directed attention towards one of two objects. Visual attention patterns were recorded via eye tracking technology. RESULTS: Neurotypical children were used as a reference group against which the autistic, CdLS and FXS groups were compared. Although autistic children looked at the eye region for significantly less time, they looked at the target object as frequently and for a similar duration as neurotypical children. Children with FXS looked at the target as frequently as neurotypical children but looked at it for comparatively less time. Both neurotypical children and children with CdLS frequently looked at the eye region, but children with CdLS were less likely to look at the target than neurotypical children. CONCLUSIONS: Findings provide preliminary evidence of unique patterns of visual attention and gaze following strategies in children with CdLS, children with FXS and autistic children. These unique gaze following patterns may underpin the distinct profiles of social and communication autistic traits observed between these groups.

Lien vers le texte intégral (Open Access ou abonnement)

5. Hernández-Díaz S, Straub L, Bateman BT, Zhu Y, Mogun H, Wisner KL, Gray KJ, Lester B, McDougle CJ, DiCesare E, Pennell PB, Huybrechts KF. Risk of Autism after Prenatal Topiramate, Valproate, or Lamotrigine Exposure. N Engl J Med. 2024; 390(12): 1069-79.

BACKGROUND: Maternal use of valproate during pregnancy has been associated with an increased risk of neurodevelopmental disorders in children. Although most studies of other antiseizure medications have not shown increased risks of these disorders, there are limited and conflicting data regarding the risk of autism spectrum disorder associated with maternal topiramate use. METHODS: We identified a population-based cohort of pregnant women and their children within two health care utilization databases in the United States, with data from 2000 through 2020. Exposure to specific antiseizure medications was defined on the basis of prescription fills from gestational week 19 until delivery. Children who had been exposed to topiramate during the second half of pregnancy were compared with those unexposed to any antiseizure medication during pregnancy with respect to the risk of autism spectrum disorder. Valproate was used as a positive control, and lamotrigine was used as a negative control. RESULTS: The estimated cumulative incidence of autism spectrum disorder at 8 years of age was 1.9% for the full population of children who had not been exposed to antiseizure medication (4,199,796 children). With restriction to children born to mothers with epilepsy, the incidence was 4.2% with no exposure to antiseizure medication (8815 children), 6.2% with exposure to topiramate (1030 children), 10.5% with exposure to valproate (800 children), and 4.1% with exposure to lamotrigine (4205 children). Propensity score-adjusted hazard ratios in a comparison with no exposure to antiseizure medication were 0.96 (95% confidence interval [CI], 0.56 to 1.65) for exposure to topiramate, 2.67 (95% CI, 1.69 to 4.20) for exposure to valproate, and 1.00 (95% CI, 0.69 to 1.46) for exposure to lamotrigine. CONCLUSIONS: The incidence of autism spectrum disorder was higher among children prenatally exposed to the studied antiseizure medications than in the general population. However, after adjustment for indication and other confounders, the association was substantially attenuated for topiramate and lamotrigine, whereas an increased risk remained for valproate. (Funded by the National Institute of Mental Health.).

Lien vers le texte intégral (Open Access ou abonnement)

6. Jordan A, Parchment A, Gauntlett-Gilbert J, Jones A, Donaghy B, Wainwright E, Connell H, Walden J, Moore DJ. Understanding the impacts of chronic pain on autistic adolescents and effective pain management: a reflexive thematic analysis adolescent-maternal dyadic study. J Pediatr Psychol. 2024; 49(3): 185-94.

OBJECTIVE: Sensory elements are core features in chronic pain and autism, yet knowledge of the pain experience in autistic adolescents is limited. Little is known regarding how autistic adolescents experience chronic pain, manage their pain and perceive psychological treatment for their chronic pain. METHODS: Ten autistic adolescents (6 female, 3 male, and 1 self-identified as agender) with chronic pain and their mothers (n = 10) participated in semistructured interviews concerning their perceptions of living with chronic pain. Participants were recruited from U.K. pain management services. According to preference, interviews were conducted individually (n = 10) or dyadically (n = 10 participants across 5 dyads). Data were analyzed using inductive reflexive thematic analysis. RESULTS: Two themes were generated. Theme 1, « overstimulated and striving for control » described how adolescents’ experience of heightened sensitivity enhanced adolescents’ levels of anxiety and subsequent pain, illustrating a reciprocal relationship between anxiety, pain, and sensory elements. Theme 2, « not everyone fits the mold » captured how autistic adolescents positioned themselves as distinct from others due to the unique nature of being autistic and living with pain. This sense of difference negatively impacted adolescents’ ability to engage with and benefit from the standard treatment for chronic pain. CONCLUSIONS: Findings suggest that autistic adolescents living with pain experience pain and face barriers to effective pain treatment. Our results identify the need for educational resources to facilitate clinicians to better understand the experience of autistic adolescents living with pain. In turn, such understanding may improve treatment and outcomes in this population.

Lien vers le texte intégral (Open Access ou abonnement)

7. Jung Y, Lee T, Oh HS, Hyun Y, Song S, Chun J, Kim HW. Gut microbial and clinical characteristics of individuals with autism spectrum disorder differ depending on the ecological structure of the gut microbiome. Psychiatry Res. 2024; 335: 115775.

Understanding the relationship between the gut microbiome and autism spectrum disorder (ASD) is challenging due to the heterogeneous nature of ASD. Here, we analyzed the microbial and clinical characteristics of individuals with ASD using enterotypes. A total of 456 individuals participated in the study, including 249 participants with ASD, 106 typically developing siblings, and 101 controls. The alpha and beta diversities of the ASD, sibling, and control groups did not show significant differences. Analysis revealed a negative association between the Bifidobacterium longum group and the Childhood Autism Rating Scale, as well as a negative association between the Streptococcus salivarus group and the Social Responsiveness Scale (SRS) within the ASD group. When clustered based on microbial composition, participants with ASD exhibited two distinct enterotypes, E1 and E2. In the E2 group, the SRS score was significantly higher, and the Vineland Adaptive Behavior Scale score was significantly lower compared to the E1 group. Machine learning results indicated that the microbial species predicting SRS scores were distinct between the two enterotypes. Our study suggests that the microbial composition in individuals with ASD exhibits considerable variability, and the patterns of associations between the gut microbiome and clinical symptoms may vary depending on the enterotype.

Lien vers le texte intégral (Open Access ou abonnement)

8. Keates N, Martin F, Waldock KE. Autistic People’s Perspectives on Functioning Labels and Associated Reasons, and Community Connectedness. J Autism Dev Disord. 2024.

PURPOSE: Functioning labels have been used in relation to autistic people and differentiating between support needs. The main purpose of our study was to identify perspectives regarding language about being autistic. In regard to themselves and functioning. Furthermore, we investigated the influential factor of community connectedness on use of language acceptability and functioning labels. METHODS: 516 autistic respondents completed our survey. We asked about demographic characteristics, how respondents would like autistic people to be termed in the survey, and their acceptability (person with autism, Aspergers, disorder, conditions, living with autism, autistic). We also asked about respondents? Autistic Community Connectedness, acknowledging the implicit nature of language and identity (Stets & Serpe in New directions in identity theory and research, Oxford University Press, 2016). The main focus of our survey was whether or not to use functioning labels, and the supporting rationale. RESULTS: Qualitative study using Merleau-Ponty’s hermeneutic phenomenology as a philosophical framework. Data collection took place between 2020 and 2021 in a southern Spanish province. A total of 22 in-depth interviews were conducted using open-ended questions until data saturation was reached. RESULTS: 97% of respondents stated that they find the term ‘autistic’ acceptable. Respondents who did see merit in using functioning labels to describe autistic people also reported not necessarily using them about themselves. Community membership was found to impact the participants’ language preferences to describe the support needs of autistic people, including the use of functioning labels. CONCLUSION: The proposed best option for language preferences is not to find consensus but instead, opt for the optimal choice that people find the least offensive or disagreeable. This means using identity-first language and not using functioning labels.

Lien vers le texte intégral (Open Access ou abonnement)

9. Keating CT, Hickman L, Geelhand P, Takahashi T, Leung J, Monk R, Schuster B, Rybicki A, Girolamo TM, Clin E, Papastamou F, Belenger M, Eigsti IM, Cook JL, Kosaka H, Osu R, Okamoto Y, Sowden-Carvalho S. Cross-cultural variation in experiences of acceptance, camouflaging and mental health difficulties in autism: A registered report. PLoS One. 2024; 19(3): e0299824.

Recent findings suggest that stigma and camouflaging contribute to mental health difficulties for autistic individuals, however, this evidence is largely based on UK samples. While studies have shown cross-cultural differences in levels of autism-related stigma, it is unclear whether camouflaging and mental health difficulties vary across cultures. Hence, the current study had two aims: (1) to determine whether significant relationships between autism acceptance, camouflaging, and mental health difficulties replicate in a cross-cultural sample of autistic adults, and (2) to compare these variables across cultures. To fulfil these aims, 306 autistic adults from eight countries (Australia, Belgium, Canada, Japan, New Zealand, South Africa, the United Kingdom, and the United States) completed a series of online questionnaires. We found that external acceptance and personal acceptance were associated with lower levels of depression but not camouflaging or stress. Higher camouflaging was associated with elevated levels of depression, anxiety, and stress. Significant differences were found across countries in external acceptance, personal acceptance, depression, anxiety, and stress, even after controlling for relevant covariates. Levels of camouflaging also differed across countries however this effect became non-significant after controlling for the covariates. These findings have significant implications, identifying priority regions for anti-stigma interventions, and highlighting countries where greater support for mental health difficulties is needed.

Lien vers le texte intégral (Open Access ou abonnement)

10. Li K, Liang X, Liu X, Geng Y, Yan J, Tian L, Liu H, Lai W, Shi Y, Xi Z, Lin B. Early-life exposure to PM2.5 leads to ASD-like phenotype in male offspring rats through activation of PI3K-AKT signaling pathway. Ecotoxicol Environ Saf. 2024; 274: 116222.

Previous studies have shown that early-life exposure to fine particulate matter (PM2.5) is associated with an increasing risk of autism spectrum disorder (ASD), however, the specific sensitive period of ASD is unknown. Here, a model of dynamic whole-body concentrated PM2.5 exposure in pre- and early-postnatal male offspring rats (MORs) was established. And we found that early postnatal PM2.5 exposed rats showed more typical ASD behavioral characteristics than maternal pregnancy exposure rats, including poor social interaction, novelty avoidance and anxiety disorder. And more severe oxidative stress and inflammatory responses were observed in early postnatal PM2.5 exposed rats. Moreover, the expression level of phosphatase and tensin homolog deleted on chromosome ten (PTEN) was down-regulated and the ratios of p-PI3K/PI3K and p-AKT/AKT were up-regulated in early postnatal PM2.5 exposed rats. This study suggests that early postnatal exposure to PM2.5 is more susceptible to ASD-like phenotype in offspring than maternal pregnancy exposure and the activation of PI3K-AKT signaling pathway may represent underlying mechanisms.

Lien vers le texte intégral (Open Access ou abonnement)

11. Li YX, Tan ZN, Li XH, Ma B, Adu Nti F, Lv XQ, Tian ZJ, Yan R, Man HY, Ma XM. Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice. Mol Psychiatry. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2(+/-)) male mice exhibited the core symptoms of autism. Rfwd2(+/-) male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficits, whereas Rfwd2(+/-) female mice showed subtle deficits in social communication and spatial memory but were normal in anxiety-like, repetitive, and social behaviors. These autistic-like behaviors in males were accompanied by a reduction in dendritic spine density and abnormal synaptic function on layer II/III pyramidal neurons in the prelimbic area of the medial prefrontal cortex (mPFC), as well as decreased expression of synaptic proteins. Impaired social behaviors in Rfwd2(+/-) male mice were rescued by the expression of ETV5, one of the major substrates of RFWD2, in the mPFC. These findings indicate an important role of RFWD2 in the pathogenesis of autism.

Lien vers le texte intégral (Open Access ou abonnement)

12. Mullin LJ, Rutsohn J, Gross JL, Caravella KE, Grzadzinski RL, Weisenfeld LA, Flake L, Botteron KN, Dager SR, Estes AM, Pandey J, Schultz RT, St John T, Wolff JJ, Shen MD, Piven J, Hazlett HC, Girault JB. Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome. J Neurodev Disord. 2024; 16(1): 12.

BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants. METHODS: The current study contrasted longitudinal trajectories of verbal (expressive and receptive language) and nonverbal (gross and fine motor, visual reception) skills in FXS and FH-ASD infants, compared to FH infants who did not develop ASD (FH-nonASD) and typically developing controls. RESULTS: Infants with FXS showed delays on a nonverbal composite compared to FH-ASD (as well as FH-nonASD and control) infants as early as 6 months of age. By 12 months an ordinal pattern of scores was established between groups on all domains tested, such that controls > FH-nonASD > FH-ASD > FXS. This pattern persisted through 24 months. Cognitive level differentially influenced developmental trajectories for FXS and FH-ASD. CONCLUSIONS: Our results demonstrate detectable group differences by 6 months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive development in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups.

Lien vers le texte intégral (Open Access ou abonnement)

13. Mykins M, Bridges B, Jo A, Krishnan K. Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome. J Neurosci. 2024; 44(12).

Regression is a key feature of neurodevelopmental disorders such as autism spectrum disorder, Fragile X syndrome, and Rett syndrome (RTT). RTT is caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). It is characterized by an early period of typical development with subsequent regression of previously acquired motor and speech skills in girls. The syndromic phenotypes are individualistic and dynamic over time. Thus far, it has been difficult to capture these dynamics and syndromic heterogeneity in the preclinical Mecp2-heterozygous female mouse model (Het). The emergence of computational neuroethology tools allows for robust analysis of complex and dynamic behaviors to model endophenotypes in preclinical models. Toward this first step, we utilized DeepLabCut, a marker-less pose estimation software to quantify trajectory kinematics and multidimensional analysis to characterize behavioral heterogeneity in Het in the previously benchmarked, ethologically relevant social cognition task of pup retrieval. We report the identification of two distinct phenotypes of adult Het: Het that display a delay in efficiency in early days and then improve over days like wild-type mice and Het that regress and perform worse in later days. Furthermore, regression is dependent on age and behavioral context and can be detected in the initial days of retrieval. Together, the novel identification of two populations of Het suggests differential effects on neural circuitry, opens new avenues to investigate the underlying molecular and cellular mechanisms of heterogeneity, and designs better studies for stratifying therapeutics.

Lien vers le texte intégral (Open Access ou abonnement)

14. Newell V, Townsend E, Richards C, Cassidy S. Measurement properties of tools used to assess self-harm in autistic and general population adults. Clin Psychol Rev. 2024; 109: 102412.

Autistic people are at increased risk of experiencing self-harm compared to the general population. However, it is unclear which tools are being used to assess self-harm in autistic people, or whether existing tools need to be adapted for this group. This two-stage systematic review aimed to identify tools used to assess self-harm in autistic and general population adults, evaluate these tools on their measurement properties, and make recommendations for their appropriate use in research and clinical practice. Four databases were systematically searched (PsycINFO, Embase, MEDLINE and Web of Science). Eight frequently used self-harm assessment tools were identified and assessed for risk of bias, criteria for good measurement properties, and quality of evidence using the COSMIN checklist. Of these, two tools had sufficient evidence of internal consistency (ISAS, QNSSI), and one had been frequently used with autistic adults (NSSI-AT). These three tools may have potential for use with autistic adults but require further investigation for content validity and measurement properties in the autistic population. More research and potential adaptations to current self-harm assessment tools are recommended in order to better conceptualise and understand self-harm and its measurement in autism.

Lien vers le texte intégral (Open Access ou abonnement)

15. Nighat A, Ahmer Z, Ovais M, Athar FB, Baig LA. Caregiver strain and its predictors among parents of autistic children: a cross-sectional study. J Child Adolesc Ment Health. 2024: 1-13.

Objective: This study estimates the frequency and predictors of caregiver strain (CGS) among parents of autistic children.Methods: Demographic details and CGS were collected through a validated tool from 403 parents of autistic children in Karachi, Pakistan. Regression modelling was performed to report associations between social, behavioural, and communication problems and socioeconomic predictors of CGS. Results were reported using adjusted beta-coefficients with 95% confidence intervals.Results: In total, 88.3% of the parents reported moderate to severe CGS. A high family income (β = -4.31, 95% CI -7.55, -0.11), and caregiver’s higher level of education (β = -4.73, 95% CI -8.84, -0.61), along with care-recipient age group (β = -9.35, 95% CI -15.17, -3.52) significantly predicted lower CGS. Diagnosis of more than 5 years (β = 7.57, 95% CI 2.36, 12.79), tendency to self-harm (β = 10.75, 95% CI 6.62, 14.88), and social withdrawal in the care-recipient (β = 4.56, 95% CI 1.68, 7.44) were significantly associated with higher CGS.Conclusion: Parents of children on the autistic spectrum suffer from high CGS. There is a need to introduce tailored parenting interventions at the individual and community levels to help parents reduce the CGS, ultimately benefiting their child.

Lien vers le texte intégral (Open Access ou abonnement)

16. Ong N, Brogan D, Lucien A, Wolman S, Campbell D, Deng L, Koirala A, Garg P, Sharma K. The development and evaluation of a vaccination pathway for children with intellectual and developmental disability and needle fear. Paediatr Neonatal Pain. 2024; 6(1): 1-9.

This qualitative study describes the development and evaluation of a clinical pathway to facilitate the implementation of catch-up vaccinations for children with significant needle fear, particularly in children with developmental disabilities. The Specialist Immunization Team, based at a tertiary level teaching children’s hospital, participated in process mapping activities using Motivational Interviewing (MI) techniques and reflective discussions. Team members developed a clinical pathway by incorporating parental feedback from semistructured interviews and clinical expertise from within the team, facilitated by colleagues from the Child Development Unit. A process map was developed that included process strengths and touch points with an action plan that was discussed and agreed upon. A repeat process mapping activity was conducted 16 months later. Reports from parental feedback included: positive, efficient, and successful experiences of having their child undergo catch-up vaccinations. The experience empowered families for further procedures. Team members reported improvements in triaging appropriate children for the pathway, and an increase in confidence to interact and manage behaviors of children with significant anxiety and challenging behaviors. They also reported an increase in successful vaccinations with improved clinical judgment of facilitating the sedation pathway. This study demonstrates that using group facilitation using motivational interviewing in reflective discussions and process mapping utilizing parent and staff feedback in service improvement activities results in efficient and successful service delivery with improved patient outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

17. Pracilio A, Wilson NJ, Tumanggor RD, Cashin A. Indonesian nurses’ awareness and application of reasonable adjustments when caring for people with intellectual disability and/or autism. Int Nurs Rev. 2024.

AIM: This study aimed to understand Indonesian nurses’ familiarity with the concept of reasonable adjustments, and the frequency of its application within their practice. BACKGROUND: People with intellectual disability and/or autism are exposed to significant barriers when accessing healthcare and have poorer health outcomes than those without developmental disabilities. Reasonable adjustments can improve accessibility and quality of healthcare for people with disabilities and involves adapting practices and environments to promote equitable healthcare. INTRODUCTION: There is a scarcity of literature focused on the application of reasonable adjustments in the Indonesian nursing context. A greater understanding of the application of reasonable adjustments in this context can help inform nursing curricula and policy. METHODS: A cross-sectional, descriptive survey -was undertaken and is reported in accordance with the Strengthening the Reporting of Evaluations and Non-randomised Designs. Following descriptive analysis, bivariate analyses were undertaken between key demographic, workplace, and self-reported capability variables, and familiarity and implementation of reasonable adjustments. RESULTS: The majority of respondents were not familiar with the concept of reasonable adjustments and self-reported sometimes applying it within their practice. Higher levels of educational and clinical exposure to intellectual disability and/or autism, and self-capability variables, were significantly associated with familiarity with reasonable adjustments and their application. CONCLUSIONS: An increase in nursing curricula focused on caring for people with intellectual disability and/or autism, including content focused on applying reasonable adjustments, is indicated. IMPLICATIONS FOR NURSING POLICY: Given that, internationally, people with intellectual disability and/or autism have disproportionately negative health outcomes and experiences, findings highlighting gaps in understanding and application of reasonable adjustments of Indonesian nurses have substantial implications for nursing policy and curriculum.

Lien vers le texte intégral (Open Access ou abonnement)

18. Shikarpurya S, Fogarty M, Gilson CB, Benzel M, Fletcher KE, Osburn C, Villarreal A, Tassin A. Peer perspectives on friendships among peers with and without intellectual and developmental disabilities: A pilot mixed methods study. J Appl Res Intellect Disabil. 2024; 37(3): e13224.

BACKGROUND: The benefits of friendships among peers with and without intellectual and developmental disabilities are well supported by research. However, little is known about the nature of these inclusive friendships in inclusive college courses. METHOD: We explored the perspectives of peers on the development of authentic friendships among peers with and without intellectual and developmental disabilities in inclusive college courses in the United States. We used a sequential, explanatory, transformative mixed methods-grounded theory research design. We integrated quantitative (N = 44) and qualitative (N = 8) findings using blended analysis to inform a preliminary grounded theory of inclusive and reciprocal friendships. RESULTS: Quantitative findings suggest two relationships and one predictor of peers’ perceived social engagement. Qualitative findings resulted in five themes that promote friendships. CONCLUSIONS: We propose that the context for developing inclusive friendships could be fostered using the preparation and actions stages of the grounded theory model.

Lien vers le texte intégral (Open Access ou abonnement)

19. Son E, Alford S. Piloting a Community-Based, Culturally Adapted Health Promotion Program for Children with Autism Spectrum Disorder and Developmental Disabilities in First-Generation Korean Immigrant Families. Health Soc Work. 2024.

Children with autism spectrum disorder and developmental disabilities (ASD/DD) face barriers to participation in health promotion programs due to the lack of available and/or affordable programs and trained staff at recreation centers. Children with ASD/DD in Korean immigrant families are one of the most underserved minority groups due to language, racial/ethnic discrimination, and stigma and shame within their own ethnic community. However, little research is available on development, implementation, and evaluation of a culturally adapted community health promotion program in this population. The purpose of this study is to assess effectiveness of a pilot program for children with ASD/DD from first-generation Korean immigrant families. The pilot study used a quantitative, quasiexperimental design (one-group design with pre- and posttest) following a seven-week health promotion program. We recruited 15 children with ASD/DD, ages nine through 16, from first-generation Korean immigrant families. The findings of the study suggest that the pilot program was effective in gaining nutrition knowledge and increasing physical involvement among participants. Given the fact that Asian immigrants are a fast-growing population and that nearly 75 percent of them were born abroad, development and evaluation of a community-based, culturally adapted health promotion program is urgently needed.

Lien vers le texte intégral (Open Access ou abonnement)

20. Williams J, Royer J, Lauer E, Kurth NK, Horner-Johnson W, McDermott S, Levy A, Hall JP. Injury-related emergency department use among people with intellectual and developmental disabilities insured by Medicaid from 2010 to 2016. Inj Prev. 2024; 30(2): 138-44.

OBJECTIVES: Data on non-fatal injuries and visits to the emergency department (ED) for injuries are not readily available. The objective of this paper is to describe injury-related ED visits for people with intellectual and developmental disabilities who are covered by the Medicaid insurance programme. METHODS: We aggregated 2010-2016 Medicaid claims data from eight states. Using these data, we identified individuals with intellectual and developmental disabilities and then determined an all-cause ED visit rate, ED visit due to injury rate and admission from ED due to injury rate. Data were stratified by sex and age group. Results were compared with national rates. RESULTS: Medicaid members with intellectual and developmental disabilities visited EDs at approximately 1.8 times the rate of the general population. The ED visit rate due to injury was approximately 1.5 times that observed in the population overall. When ED visits due to injury data were stratified by age and sex, the largest discrepancy was observed in women ages 45-64, who visited EDs due to injury at a rate 2.1 times that of women of the same age in the general population. The admission rate from ED due to injury increased over the study period most notably in the older age groups. CONCLUSIONS: While rates and patterns of ED utilisation among Medicaid members with intellectual and developmental disabilities vary by age and gender, our findings suggest this group visits the ED due to injury at rates well above the general population.

Lien vers le texte intégral (Open Access ou abonnement)

21. Yuan JJ, Zhao YN, Lan XY, Zhang Y, Zhang R. Prenatal, perinatal and parental risk factors for autism spectrum disorder in China: a case- control study. BMC Psychiatry. 2024; 24(1): 219.

BACKGROUND: Autism spectrum disorder (ASD) is heritable neurodevelopmental disorders (NDDs), but environmental risk factors have also been suggested to a play a role in its development. Prenatal, perinatal and parental factors have been associated with an increased risk of ASD in children. The aim of the present study was to explore the prenatal, perinatal, and parenting risk factors in children with autism spectrum disorder (ASD) from Beijing, China by comparing them with typically developing (TD) children. METHODS: A sample of 151 ASD children’s parents who from rehabilitation institutions in Beijing were enrolled in this study, and an additional 151 children from kindergartens in Beijing were recruited as a control group (child age: mean = 4.4 years). TD children were matched according to age, sex and maternal education. We explored the maternal AQ (Autism Spectrum Quotient) scores (mean:19.40-19.71, no significant difference between two groups) to referring the genetic baseline. This study evaluated 17 factors with unadjusted and adjusted analyses. RESULTS: Birth asphyxia was associated with a more than a thirteen-fold higher risk of ASD (adjusted odds ratio (AOR) = 13.42). Breastfeeding difficulties were associated with a higher risk of ASD(AOR = 3.46). Parenting influenced the risk of ASD, with low responding (LR) and harsh or neglectful parenting associated with a higher risk of ASD in offspring (AOR = 2.37 for LR, AOR = 3.42 for harsh parenting and AOR = 3.01 for neglectful parenting). Maternal fever during pregnancy was associated with a higher risk of ASD in offspring (AOR = 3.81). CONCLUSIONS: Many factors were associated with ASD in offspring. Further assessment is needed to elucidate the role of modifiable environmental factors to inform prevention strategies.

Lien vers le texte intégral (Open Access ou abonnement)