Pubmed du 04/09/24

Pubmed du jour

1. Andrade JGL, Carmo A, Tamanaha AC, Perissinoto J. Effectiveness of Distance Educational Programs for parents of children diagnosed with Autism Spectrum Disorder: an integrative review. Codas;2024;36(5):e20230291.

OBJECTIVE: to analyze the scientific literature on distance education programs for parents/caregivers in the development of children with Autism Spectrum Disorder (ASD). RESEARCH METHOD: the PICO strategy was used to identify the research problem. The databases Medline, ERIC, LILACs, EMBASE, CINAHL, Web of Science, and Scopus were searched using specific descriptors and free terms. There were no restrictions on time or language. Articles on online educational programs for parents of children with ASD were selected, focusing on the impact of these programs on the development of children up to six years old. SELECTION CRITERIA: studies were selected based on standard eligibility criteria, including full-text reading after initial screening using the RAYYAN software. Primary studies such as clinical trials and systematic reviews evaluating distance education programs for parents of children with ASD were included. DATA ANALYSIS: the RAYYAN software was used for initial study selection. Articles were hierarchically organized based on title and abstract, followed by full-text reading to apply eligibility criteria. RESULTS: the initial search yielded 1019 articles, of which 192 were identified as duplicates. After initial screening and full-text reading, 37 articles were analyzed, of which six were deemed eligible to answer the research question. Among the eligible studies, one was a systematic review and five were experimental studies. Experimental studies highlighted positive impacts on areas such as daily routines, behavioral flexibility, and communication. The systematic review provided preliminary evidence that distance education programs for parents can enhance knowledge about ASD, increase adherence to interventions, and foster the development of social and communication skills in children. CONCLUSION: the findings suggest that remote parent guidance programs may effectively improve knowledge about ASD, increase parent adherence to interventions, and promote the development of social and communication skills in children with ASD.

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2. Baghdadli A, Peries M, Loubersac J, Michelon C, Rattaz C, Ferrando L, David A, Munir K, Picot MC. Contributions of the ELENA Cohort to Study Autism Spectrum Disorder in Children and Adolescents from a Biopsychosocial Framework. J Autism Dev Disord;2024 (Sep 4)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by a myriad of developmental, biological, psychological, and socio-demographic factors. The ELENA cohort seeks to delineate the intricate interplay of these factors, facilitating the identification of risk factors and the development of targeted interventions. This paper emphasizes the clinical profiles of children and outlines key findings from a biopsychosocial perspective. The ELENA cohort, a multicenter initiative across French regional centers, conducted a systematic prospective analysis on children newly diagnosed with DSM-5 ASD between 2012 and 2019. This encompassed direct assessments and parent-reported questionnaires covering a broad spectrum of developmental, biological, psychological and socio-demographic measures. Embedded case-control studies further examined risk and protective factors, alongside specific environmental and psychosocial influences during pregnancy and early childhood. A subset of participants also contributed biospecimens, with data enhancement via linkage to French National Administrative Healthcare Databases. The study unveils baseline clinical characteristics for 876 children, average age 6 (SD ± 3.3) previously unreported in protocol descriptions. It highlights the study’s developmental biopsychosocial approach and its novel findings on children’s socio-adaptive functioning, ASD severity, comorbidities, quality of life and interventions. Employing developmental biopsychosocial insights offers a promising pathway to integrating health, social care, and experiential insights, ultimately aiming to enhance the future well-being and outcomes for children with ASD. This approach underscores the need of a holistic, interdisciplinary strategy in encouraging and supporting the ASD community.

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3. Brown TR, Jansen MO, Zhou AN, Moog D, Xie H, Liebesny KV, Xu KY, Lin BY, Deng WY. Co-occurring autism, ADHD, and gender dysphoria in children, adolescents, and young adults with eating disorders: an examination of pre- vs. post-COVID pandemic outbreak trends with real-time electronic health record data. Front Psychiatry;2024;15:1402312.

BACKGROUND: Incidence rates of autism, attention-deficit/hyperactivity disorder (ADHD), and gender dysphoria (GD) are rising not only in the general population, but particularly among children, adolescents, and young adults with eating disorders (EDs). While ED rates have risen during the COVID pandemic, trends in co-occurring autism, ADHD, and GD have yet to be investigated in detail or at scale by way of large electronic medical record data. OBJECTIVES: To investigate trends in rates of co-occurring autism, ADHD, and GD among children, adolescents, and young adults with EDs in years prior to and during the COVID-19 pandemic. METHODS: We utilized a de-identified multinational electronic health records database (TriNetX) with 48,558 individuals aged 5-26 diagnosed with eating disorders (EDs) at least twice between 2017 and 2022. The primary predictor variable differentiated between the years of each person’s index (first) ED diagnosis (2017-2019 vs. 2020-2022). The primary outcome variable was the rate of new co-occurring psychiatric diagnoses of autism, ADHD, and GD in the year following each patient’s first ED diagnosis. We applied propensity score-matched multivariable logistic regressions to compare primary outcomes between 2017-2019 and 2020-2022. RESULTS: Our analysis included 17,445 individuals diagnosed with EDs in 2017-2019 (8% autism, 13.5% ADHD, 1.9% GD) and 31,113 diagnosed with EDs in 2020-2022 (8% autism, 14.6% ADHD, 3.2% GD). After 1:1 propensity score matching, 17,202 individuals from the 2017-2019 cohort were matched to peers mirroring the 2020-2022 cohort. Those diagnosed in 2020-2022 showed a 19% (aOR[95%CI]=1.19[1.07-1.33]), 25% (aOR=1.25[1.04-1.49]), and 36% (aOR=1.36[1.07-1.74]) increase in odds for autism, ADHD, and GD diagnoses, respectively, within the 365 days after the index EDs diagnosis, compared to the 2017-2019 cohort. DISCUSSION: Rates of autism, ADHD, and GD are significantly higher in individuals with ED in the post-pandemic 2020-2022 cohort in comparison to the pre-pandemic 2017-2019 cohort, even after controlling for baseline levels of co-occurring psychiatric diagnoses. Such findings reveal a critical gap in our current understanding of the totality of ways in which COVID-19 may have impacted the onset and clinical course of EDs, autism, ADHD, and GD among children, adolescents, and young adults.

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4. Corey J, Tsai JM, Mhadeshwar A, Srinivasan S, Bhat A. Digital motor intervention effects on physical activity performance of individuals with developmental disabilities: a systematic review. Disabil Rehabil;2024 (Sep 4):1-16.

PURPOSE: Post-pandemic, use of digital technologies (e.g., mobile app, Zoom, virtual reality, and videogaming) to promote physical activity (PA) in populations with intellectual and developmental disabilities (IDD) has increased. The efficacy of various digital technologies in promoting PA in individuals with IDD varies. We conducted a systematic review to examine current literature findings on the efficacy of digital PA interventions on PA outcomes in individuals with IDD. METHODS: Articles published between 1900 and 2024 that examined effects of technology-based PA interventions on PA levels/fitness of individuals with IDD using experimental or quasi-experimental study designs were included. Sixteen articles were retrieved from four health databases PubMed (914), PsycInfo (1201), SCOPUS (1910), and CINAHL (948). RESULTS: Findings based on 604 participants (Autism: 383; Down Syndrome: 106; Developmental Disability: 83, Developmental Coordination Disorder: 37) provide the most support for exergaming/digital PA intervention benefits for populations with ID, Down Syndrome, and Autism; however, there was limited support for its use in those without ID (e.g., DCD). CONCLUSION: Digital technology is an effective tool to promote improvements in PA/fitness, motor, cardiovascular performance in individuals with ID. Future studies need to build on this evidence to support the use of PA outcomes in individuals with different IDD diagnoses. Individuals with intellectual and developmental disabilities (IDD) are more physically inactive compared to peers without IDD.Exercise and physical activity are effective modalities to improve health and well-being of individuals with IDD.Exergaming/digital technologies are a promising option to promote physical activity in individuals with IDD, specifically, in children with Down Syndrome and Autism Spectrum Disorder.This is the first review comparing effects of exergaming/digital technologies on physical activity outcomes of individuals with and without intellectual disabilities. eng

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5. Cundari M, Vestberg S, Gustafsson P, Gorcenco S, Rasmussen A. Corrigendum: Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Front Syst Neurosci;2024;18:1462062.

[This corrects the article DOI: 10.3389/fnsys.2023.1168666.].

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6. Davis NO, Lerebours R, Aiello RE, Carpenter KLH, Compton S, Franz L, Kollins SH, Sabatos-DeVito M, Spanos M, Dawson G. Behavioral characteristics of toddlers later identified with an autism diagnosis, ADHD symptoms, or combined autism and ADHD symptoms. J Child Psychol Psychiatry;2024 (Sep 3)

BACKGROUND: Autism commonly co-occurs with attention-deficit/hyperactivity disorder (ADHD), but less is known regarding how ADHD symptoms impact the early presentation of autism. This study examined early behavioral characteristics of a community sample of toddlers later identified with autism diagnosis, ADHD symptoms, combined autism and ADHD symptoms, or neither condition. METHODS: Participants were 506 toddlers who were part of a longitudinal study of children’s behavioral development. Parents completed questionnaires about their children’s behavior at two time points. Four groups were identified based on study measures or medical record: autism diagnosis (n = 45), elevated ADHD symptoms (n = 70), autism and ADHD symptoms (n = 30), or neurotypical development (n = 361). Relationships between early parent report of autism- and ADHD-related behaviors, social-emotional and behavioral functioning, and caregiver experience and subsequent group designation were evaluated with adjusted linear regression models controlling for sex. RESULTS: Significant group differences were found in measures of autism-related behaviors, ADHD-related behaviors, externalizing and internalizing behaviors, and parent support needs (p < .0001). Pairwise comparisons indicated toddlers later identified with combined autism diagnosis and ADHD symptoms had higher levels of autism-related behaviors, externalizing and internalizing behaviors, and autism-related parent support needs compared to the other groups. Toddlers with subsequent elevated ADHD symptoms or combined autism diagnosis and ADHD symptoms exhibited similar levels of ADHD-related behaviors, while both groups displayed more ADHD-related behaviors than toddlers subsequently identified with autism or those with neither condition. CONCLUSIONS: In this community sample, toddlers for whom combined autism diagnosis and ADHD symptoms were subsequently identified showed a distinct presentation characterized by higher early autism-related behaviors, broader behavioral concerns, and higher parent support needs. Presence of ADHD symptoms (alone or in combination with autism) was associated with higher parent-reported ADHD-related behaviors during toddlerhood. Results indicate that ADHD-related behaviors are manifest by toddlerhood, supporting screening for both autism and ADHD during early childhood.

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7. Doornaert EE, Mohamad AE, Johal G, Allman BL, Möhrle D, Schmid S. Not a Deficit, Just Different: Prepulse Inhibition Disruptions in Autism Depend on Startle Stimulus Intensities. eNeuro;2024 (Sep);11(9)

Sensory processing disruptions are a core symptom of autism spectrum disorder (ASD) and other neurological disorders. The acoustic startle response and prepulse inhibition (PPI) are common metrics used to assess disruptions in sensory processing and sensorimotor gating in clinical studies and animal models. However, often there are inconsistent findings on ASD-related PPI deficits across different studies. Here, we used a novel method for assessing changes in startle and PPI in rodents, using the Cntnap2 knock-out (KO) rat model for neurodevelopmental disorder/ASD that has consistently shown PPI disruptions in past studies. We discovered that not only sex and prepulse intensity but also the intensity of the startle stimulus profoundly impacts whether PPI deficits are evident in the Cntnap2 KO rat or not. We show that rats do not universally exhibit a PPI deficit; instead, impaired PPI is contingent on specific testing conditions. Notably, at lower startle stimulus intensities, Cntnap2 KO rats not only demonstrated intact PPI but also exhibited evidence of enhanced PPI compared with their wild-type counterparts. This finding emphasizes the importance of considering specific testing conditions when evaluating startle and PPI in the context of ASD and other neuropsychiatric conditions and might explain some of the inconsistencies between different studies.

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8. Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype. Hum Genomics;2024 (Sep 4);18(1):95.

BACKGROUND: Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndrome shows remarkable phenotypic heterogeneity with a wide variability of presentation extending from normal development and cognition to severe phenotypes. The clinical spectrum ranges from neurocognitive and global developmental delay (GDD), intellectual disability, and language defects (dysarthria /apraxia) to neuropsychiatric and autism spectrum disorders. Other presentations include dysmorphic features, congenital malformations, insulin resistance, and a tendency for obesity. Our study aims to narrow the gap of knowledge in Saudi Arabia and the Middle Eastern and Northern African (MENA) region about genetic disorders, particularly CNV-associated disorders. Despite their rarity, genetic studies in the MENA region revealed high potential with remarkable genetic and phenotypic novelty. RESULTS: We identified a heterozygous de novo recurrent proximal chromosome 16p11.2 microdeletion by microarray (arr[GRCh38]16p11.2(29555974_30166595)x1) [(arr[GRCh37]16p11.2(29567295_30177916)x1)] and confirmed by whole exome sequencing (arr[GRCh37]16p11.2(29635211_30199850)x1). We report a Saudi girl with severe motor and cognitive disability, myoclonic epilepsy, deafness, and visual impairment carrying the above-described deletion. Our study broadens the known phenotypic spectrum associated with recurrent proximal 16p11.2 microdeletion syndrome to include developmental dysplasia of the hip, optic atrophy, and a flat retina. Notably, the patient exhibited a rare combination of microcephaly, features consistent with the Dandy-Walker spectrum, and a thin corpus callosum (TCC), which are extremely infrequent presentations in patients with the 16p11.2 microdeletion. Additionally, the patient displayed areas of skin and hair hypopigmentation, attributed to a homozygous hypomorphic allele in the TYR gene. CONCLUSION: This report expands on the clinical phenotype associated with proximal 16p11.2 microdeletion syndrome, highlighting the potential of genetic research in Saudi Arabia and the MENA region. It underscores the importance of similar future studies.

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9. Escalona RC. Clinical research in pediatric autism. Eur Neuropsychopharmacol;2024 (Sep 2);88:49.

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10. Fernandez Garcia M, Retallick-Townsley K, Pruitt A, Davidson E, Dai Y, Fitzpatrick SE, Sen A, Cohen S, Livoti O, Khan S, Dossou G, Cheung J, Deans PJM, Wang Z, Huckins L, Hoffman E, Brennand K. Dynamic convergence of autism disorder risk genes across neurodevelopment. bioRxiv;2024 (Aug 24)

Over a hundred risk genes underlie risk for autism spectrum disorder (ASD) but the extent to which they converge on shared downstream targets to increase ASD risk is unknown. To test the hypothesis that cellular context impacts the nature of convergence, here we apply a pooled CRISPR approach to target 29 ASD loss-of-function genes in human induced pluripotent stem cell (hiPSC)-derived neural progenitor cells, glutamatergic neurons, and GABAergic neurons. Two distinct approaches (gene-level and network-level analyses) demonstrate that convergence is greatest in mature glutamatergic neurons. Convergent effects are dynamic, varying in strength, composition, and biological role between cell types, increasing with functional similarity of the ASD genes examined, and driven by cell-type-specific gene co-expression patterns. Stratification of ASD genes yield targeted drug predictions capable of reversing gene-specific convergent signatures in human cells and ASD-related behaviors in zebrafish. Altogether, convergent networks downstream of ASD risk genes represent novel points of individualized therapeutic intervention.

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11. Finkel E, Sah E, Spaulding M, Herrington JD, Tomczuk L, Masino A, Pang X, Bhattacharya A, Hedley D, Kushleyeva Y, Thomson P, Doppelt N, Tan J, Pennington J, Dissanayake C, Bonafide CP, Nuske HJ. Physiological and communicative emotional disconcordance in children on the autism spectrum. J Neurodev Disord;2024 (Sep 4);16(1):51.

BACKGROUND: Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using communicative behaviors, such as facial expressions. However, it is not yet clear if this reduced expressivity stems from reduced physiological reactivity in emotional contexts or if individuals react internally, but do not show these reactions externally to others. We hypothesized that autism is characterized by a discordance between in-the-moment internal psychophysiological arousal and external communicative expressions of emotion. METHODS: Forty-one children on the autism spectrum and 39 non-autistic, typically developing (TD) children of two age groups (2-4 and 8-12 years) participated in a low-level stress task whilst wearing a wireless electrocardiogram. Children’s negative emotional expressions (facial, vocal, bodily) were coded following standardized protocols. Alexithymia traits were assessed using the Children’s Alexithymia Measure with school-aged children only. Data analyses involved ANOVAs, correlations, and sensitivity analyses. RESULTS: There were no group differences in physiological arousal (heart rate) or in communicative expressions of stress to the stress task. For TD preschoolers, physiological arousal during the stress task was associated with vocal expressions and for TD school-aged children, they were associated with facial and bodily expressions. By contrast, for children on the autism spectrum, physiological arousal during the stress tasks was not associated with communicative expressions across age groups. CONCLUSIONS: Our findings suggest that children on the autism spectrum might experience emotional disconcordance, in that their physiological arousal does not align with their communicative expressions. Therefore, the internally experienced stress of children on the autism spectrum may be inadvertently missed by teachers and caregivers and, consequently, learning opportunities for teaching emotional communication and regulation may be also missed. Our results support the use of wearable biosensors to facilitate such interventions in children on the autism spectrum.

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12. Garcia-Argibay M, Lundström S, Cortese S, Larsson H. Trends in Body Mass Index Among Individuals With Neurodevelopmental Disorders. JAMA Netw Open;2024 (Sep 3);7(9):e2431543.

IMPORTANCE: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are increasingly common. Individuals with NDDs have heightened obesity risks, but long-term data on body mass index (BMI) trends over time in this population are lacking. OBJECTIVE: To assess secular BMI changes from 2004 to 2020 among children with NDDs compared with those without NDDs. DESIGN, SETTING, AND PARTICIPANTS: This repeated cross-sectional study used data from the Child and Adolescent Twin Study in Sweden. Children born between January 1, 1992, and December 31, 2010, were screened for neurodevelopmental symptoms using the Autism-Tics, ADHD, and Other Comorbidities inventory between July 2004 and April 2020 when they were 9 or 12 years of age. Data analysis was conducted between September 27, 2023, and January 30, 2024. MAIN OUTCOMES AND MEASURES: BMI percentiles (15th, 50th, and 85th) were modeled using quantile regression and compared between youths with and without NDDs. Secular changes in BMI percentiles over time spanning 2004 to 2020 were evaluated and stratified by NDD subtype. RESULTS: The cohort included 24 969 Swedish twins (12 681 [51%] boys) born between 1992 and 2010, with mean (SD) age of 9 (0.6) years. Of these, 1103 (4%) screened positive for 1 or more NDDs, including ADHD, ASD, and/or learning disability. Results indicated that at the 85th BMI percentile, there was a greater increase in BMI from 2004 to 2020 among youths with NDDs compared with those without NDDs (β for interaction [βint] between NDD status and time, 1.67; 95% CI, 0.39-2.90). The greatest divergence was seen for ASD (βint, 2.12; 95% CI, 1.26-3.70) and learning disability (βint, 1.92; 95% CI, 0.65-3.82). Within the latest cohort (2016-2020), the 85th BMI percentile was 1.99 (95% CI, 1.08-2.89) points higher among children with NDDs compared with those without NDDs. CONCLUSIONS AND RELEVANCE: In this repeated cross-sectional study, at the higher end of the BMI distribution, children with NDDs had significantly greater increases in BMI compared with peers without NDDs over a 16-year period, highlighting an increasing risk of overweight over time in youths with NDDs compared with those without NDDs. Targeted obesity prevention efforts for this high-risk population are needed.

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13. Ge LK, Man X, Cai K, Liu Z, Tsang WW, Chen A, Wei GX. Sharing Our World: Impact of Group Motor Skill Learning on Joint Attention in Children with Autism Spectrum Disorder. J Autism Dev Disord;2024 (Sep 4)

Impaired joint attention is a common feature of autism spectrum disorder (ASD), affecting social interaction and communication. We explored if group basketball learning could enhance joint attention in autistic children, and how this relates to brain changes, particularly white matter development integrity. Forty-nine autistic children, aged 4-12 years, were recruited from special education centers. The experimental group underwent a 12-week basketball motor skill learning, while the control group received standard care. Eye-tracking and brain scans were conducted. The 12-week basketball motor skill learning improved joint attention in the experimental group, evidenced by better eye tracking metrics and enhanced white matter integrity. Moreover, reduced time to first fixation correlated positively with decreased mean diffusivity of the left superior corona radiata and left superior fronto-occipital fasciculus in the experimental group. Basketball-based motor skill intervention effectively improved joint attention in autistic children. Improved white matter fiber integrity related to sensory perception, spatial and early attention function may underlie this effect. These findings highlight the potential of group motor skill learning within clinical rehabilitation for treating ASD.

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14. Gulati S, Narayan CL, Mahesan A, Kamila G, Kapoor S, Chaturvedi PK, Scaria V, Velpandian T, Jauhari P, Chakrabarty B, Datta SKR, Pandey RM. Transmethylation and Oxidative Biomarkers in Children with Autism Spectrum Disorder: A Cross Sectional Study. J Autism Dev Disord;2024 (Sep 4)

We aimed to investigate the potential role of biomarkers of transmethylation, oxidative stress, and mitochondrial dysfunction in children with Autism Spectrum Disorder (ASD) by comparing them with that of typically developing children (TDC) controls. We also tried to correlate them with severity of autism, sensory issues, behavioural comorbidities and developmental quotients 119 with ASD and 52 age and sex matched typically developing children (TDC) controls were enrolled excluding those with chronic-illness or on any antioxidant therapy/multivitamins/anti-epileptic drugs. Median levels of biomarkers – serum homocysteine, cysteine, methionine, urine uric acid-to-creatinine ratio, arterial lactate, serum vitamin E, vitamin B12, folate, Nε-carboxymethyllysine, Nω- carboxymethylarginine (CMA), dityrosine and MTHFR C677T polymorphism were calculated. Children with ASD were further characterised using Childhood Autism Rating Scale-2, Childhood behavioural checklist, child sensory profile 2 caregiver questionnaire, Developmental Profile 3 for any correlation with the various biomarker levels. The median level of serum homocysteine in ASD group was 9 μmol/L(Range, 7- 16μmol/L), which was significantly higher than controls 7 μmol/L(Range, 4- 11μmol/L)(p=0.01). The prevalence of hyper-homocystinemia(>15μmol/L) was 13.4% in ASD as compared to 3.8% in controls with a significant difference(p=0.04). Dityrosine level was higher among ASD children when compared to TDC (9.8 vs 2.2 counts per second(cps), p<0.001). No significant correlation was found between prevalence of hyperhomocysteinemia and severity of autism/DQ/behavioural issues. No significant difference was found between the median levels of other biomarkers. Results support possible role of transmethylation defects and oxidative stress in ASD pathogenesis. Further studies are warranted for a better understanding of ASD pathogenesis.

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15. Kim SY, Rispoli M, Mason RA, Lory C, Gregori E, Roberts CA, Whitford D, Wang D. The Effects of Using Adapted Science eBooks Within Shared Reading on Comprehension and Task Engagement of Students with Autism Spectrum Disorder. J Autism Dev Disord;2024 (Sep 4)

The purpose of this study was to examine the effects of using adapted science eBooks within shared reading on comprehension and task engagement of high school students with autism spectrum disorder (ASD). A grade-level science textbook was selected and converted into an eBook format, incorporating various visual and auditory features (e.g., text-to-speech, summarized sentences, highlighted keywords) and presented on an iPad. The shared reading intervention included before, during, and after reading strategies (i.e., pre-teaching target vocabulary words, sharing information, retelling), with direct instruction on locating literal information. The intervention effects on reading comprehension and task engagement were evaluated using a single-case multiple probe design. The results of this study indicated that all participants demonstrated improvements in reading comprehension. Despite the longer intervention sessions compared to the baseline, all participants exhibited similar or enhanced levels of task engagement during the intervention sessions. The findings of this study provide empirical evidence supporting the use of adapted eBooks within shared reading as a means to increase access to grade-level science texts for high school students with ASD while maintaining a high level of task engagement. This intervention holds promise for improving the learning outcomes for students with ASD in science content area.

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16. Kosherbayeva L, Kozhageldiyeva L, Pena-Boquete Y, Samambayeva A, Seredenko M. Effects of autism spectrum disorder on parents labour market: Productivity loss and policy evaluation in Kazakhstan. Autism;2024 (Sep 4):13623613241273042.

Kazakhstan has witnessed a significant increase in the number of Autism Spectrum Disorder cases due to the implementation of mechanisms for early detection. However, despite these efforts, accessing quality services and effective interventions for individuals with Autism Spectrum Disorder remains challenging. While the government has implemented various policies to address the impact of Autism Spectrum Disorder on the labour market, especially for those with disabilities, the effectiveness of these policies needs to be evaluated. Therefore, this article aims to estimate the loss of productivity by calculating the cost of non-working for parents of children with Autism Spectrum Disorder. To achieve this goal, we combine data from official sources with data from our own survey to estimate the loss of productivity using human capital models. In addition, we conduct policy simulations to assess the impact of the existing policy implemented in Kazakhstan that recognises the time of caring for children with Autism Spectrum Disorder and disability as working in the paid labour market. Our results reveal that the productivity loss is substantial, with mothers of children with Autism Spectrum Disorder being particularly affected. Furthermore, based on the outcomes of the policy simulations, it becomes evident that policies solely targeting parents of children with Autism Spectrum Disorder and disability are insufficient to address the labour market gaps and the consequent loss of productivity. To effectively mitigate the impact of Autism Spectrum Disorder in the labour market, a more comprehensive approach is needed. This approach should encompass a broader range of interventions and support mechanisms, including those for individuals without disabilities and parents of children with Autism Spectrum Disorder.

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17. Kuvatbayeva UA, Iskakova MK. The use of air abrasion method to treat caries in autistic patients at the age of 6 years: A non-randomized controlled trial. Spec Care Dentist;2024 (Sep 4)

BACKGROUND: Autism Spectrum Disorders (ASD) encompass a range of conditions characterized by difficulties in social interaction and communication. Managing dental treatment for children with autism presents challenges due to their reluctance to interact with dentists, which can be as high as 65%. OBJECTIVES: This prospective non-randomized study, conducted at the Kazakh-Russian Medical University from January 15, 2023, to June 20, 2023, aimed to assess the efficacy of air abrasion caries treatment (AAbCT) compared to the standard method. INTERVENTION: The intervention involved applying air abrasion (AAb) treatment without anesthesia using aluminum oxide powder in the AAbCT group, while the control group received cavity preparation with local anesthesia. RESULTS: In this study, it was noted that the AAb method of tooth preparation was not different in efficacy from the traditional method for a population of children with autism, and could be used without anesthesia. A greater willingness to cooperate was noted (p = .0372). CONCLUSION: The AAb is an effective and safe treatment for children with ASD. Further studies needed to investigate its efficacy and safety in combination with behavioral interventions.

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18. Li X, Xu H, Zhang J. Attitudes of Chinese public towards the autism community: Evidence from a decade of Weibo data. Heliyon;2024 (Aug 30);10(16):e35113.

Autism is a highly stigmatized developmental disorder in Chinese society, with the public harboring many prejudices and misunderstandings towards individuals with autism.Grounded in ABC attitude theory, explores the status, trends, and characteristics of Weibo users’ attitudes towards the autism community. Utilizing natural language processing and machine learning techniques, the study analyzes 1,113,014 Weibo posts concerning autism, spanning from January 1, 2013, to December 31, 2022. Findings indicate that Weibo users generally hold a positive and progressively improving attitude towards the autism community, particularly in affective and behavioral dimensions. However, the cognitive dimension of these attitudes remains relatively underdeveloped. Notable variations in attitudes and their components are evident across demographic variables such as gender, age, educational level, and verification status. These insights offer valuable guidance for policy-making by relevant authorities and contribute to enhancing public acceptance of individuals with autism.

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19. Lin F. Acquisition Time for Resting-State HbO/Hb Coupling Measured by Functional Near-Infrared Spectroscopy in Assessing Autism. J Biophotonics;2024 (Sep 4):e202400150.

Functional near-infrared spectroscopy was used to record spontaneous hemodynamic fluctuations form the bilateral temporal lobes in 25 children with autism spectrum disorder (ASD) and 22 typically developing (TD) children. The coupling between oxygenated hemoglobin (HbO) and deoxygenated hemoglobin (Hb) was calculated by Pearson correlation coefficient, showing significant difference between ASD and TD, thus the coupling could be a characteristic feature for ASD. To evaluate the discrimination ability of the feature obtained in different acquisition times, the receiver operating characteristic curve (ROC) was constructed and the area under curve (AUC) was calculated. The results showed AUC > 0.8 when the time duration was longer than 1.5 min, but longer than 4 min, AUC value (~0.87) hardly varied, implying the maximal discrimination ability reached. This study demonstrated the coupling could be one of characteristic features for ASD even acquired in a short measurement time.

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20. Mandelli V, Landi I, Ceccarelli SB, Molteni M, Nobile M, D’Ausilio A, Fadiga L, Crippa A, Lombardo MV. Enhanced motor noise in an autism subtype with poor motor skills. Mol Autism;2024 (Sep 3);15(1):36.

BACKGROUND: Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise. METHODS: This study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3-16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task. RESULTS: Relatively ‘high’ (n = 87) versus ‘low’ (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively ‘low’ subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the ‘low’ subtype compared to ‘high’ (Cohen’s d = 0.77) or TD children (Cohen’s d = 0.85), but similar between autism ‘high’ and TD children (Cohen’s d = 0.08). Enhanced motor noise in the ‘low’ subtype was also most pronounced during the feedforward phase of reaching actions. LIMITATIONS: The sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed. CONCLUSIONS: Autism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.

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21. Marsden SJ, Eastham R, Kaley A. (Re)thinking about self-harm and autism: Findings from an online qualitative study on self-harm in autistic adults. Autism;2024 (Sep 4):13623613241271931.

There is a higher prevalence of self-harming behaviours within the autistic community than is experienced by the general population, in addition to co-occurring mental health conditions such as anxiety and depression. To date, research has focused on quantifying and categorising the numbers of autistic people self-harming, what types of harming they are engaging in and what functions the harming performs. Autism research has historically focused on the opinions and experiences of parents, carers and clinicians, with a belief that autistic people are unable to present their own experiences and thoughts accurately. This study adopted a qualitative method to develop themes arising from online forum discussions, using the words of autistic adults talking about how they experience and understand their self-harming behaviours. The analysis discovered that self-harming behaviours are used by autistic people as a way of coping with anxiety and depression and to relieve the build up of stress and sensory or mental overload that can otherwise lead to a meltdown. Repetitive behaviours such as stimming are also used to relieve the buildup of sensory over-stimulation and anxiety, but both stimming and meltdowns can also be self-harming behaviours if they cause tissue damage, and are believed to be childhood presentations which are stigmatised if expressed by an autistic adult. Many autistic adults find it hard to get help with self-harming behaviours because they are not taken seriously by professionals, as it is seen as part of autism and cannot be helped, or the professionals do not have enough knowledge of autism.

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22. Mierau SB, Thom RP, Ravichandran CT, Nagy A, Rice C, Macenski C, Keary CJ, Palumbo ML, McDougle CJ, Neumeyer AM. Genetic Testing History in Adults with Autism Spectrum Disorder. medRxiv;2024 (Aug 19)

Background & Objectives Many genes have been identified in autism spectrum disorder (ASD). Yet little is known about how many adults with ASD receive recommended genetic testing and their outcomes. We investigated the percentage of adults with ASD who received genetic testing using recommended methods in our ASD specialty clinic and the percentage with positive findings. Methods Potentially eligible adults were identified through search of our health system data repository and ASD diagnoses confirmed using review of relevant medical records by consensus of psychiatrists specializing in ASD. Patients were included (N=630) who had at least one visit with a qualifying clinician between 5/1/2010 and 12/15/2020 and demographic data available. Data were collected through manual retrospective review of the electronic health record. Results Only 41% of the adults with ASD (261/630) had a history of genetic testing documented in the medical record. Genetic testing was declined by patients or families for 11% (72) of records and not recorded in 47% (297). Mean (SD; range) age for the 261 adults with testing documented was 28.5 (5.3; 22-58) years. Sixty-seven (26%) were identified as female, 14 (6%) as Asian, 8 (3%) as Black or African American, 226 (89%) as White, 6 (2%) as other race, and 2 (1%) as Hispanic. 189 (73%) had intellectual disability. Ninety-one percent (236) had the genetic testing method recorded. Only 54% (95% CI: 46%, 61%) of patients had testing using a recommended method (chromosomal array, autism/intellectual disability sequencing panel, or exome sequencing). Few adults had received testing with sequencing technologies. A genetic cause of ASD was found in 28% (95% CI: 19%, 39%) of the 121 adults with results from ASD-related genetic testing recorded. Discussion Genetic testing can offer clinical and research insights. Yet it is underutilized in this population of adults with ASD. Nearly half of the adults in our sample lacked documentation of genetic testing. Thus, the percentage of adults with confirmed ASD who had any recommended genetic testing may be even lower than reported. Adults with ASD may benefit from having their genetic testing history reviewed in the clinic and the latest genetic testing performed.

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23. Rovane AK, Hock RM, Yang CH, Hills KJ. Parent Facilitation of Child Emotion Regulation in ASD: An Ecological Momentary Assessment Study. J Autism Dev Disord;2024 (Sep 4)

Parents play a substantial role in their children’s emotion regulation (ER) abilities. Children with autism spectrum disorder (ASD) often have difficulties regulating their emotions, which can manifest as externalizing behavioral issues. Parents of children with ASD facilitate their children’s ER development in response to unique challenges and stressors, often developing resiliency but other times contributing to their children’s dysregulation and behavioral challenges. It is unclear how much momentary stress attenuates parents’ emotional facilitation of child ER and its effect on child behavioral functioning. Using an ecological momentary assessment approach, the current study explores this process by considering how parents of children with ASD facilitate child ER through (1) parent ER ability, (2) emotion socialization style, and (3) expressed emotion. Multilevel models explored the relative influences of parent ER facilitation on the association between momentary parent stress and behavioral intensity. Results suggest that parent ER abilities and specific emotion socialization styles interact with momentary parent stress and child behavior, whereas emotional climate of the home impacts child behavior more directly. The role of parent ER facilitation in the context of parent stress and children with ASD and behavioral problems is complex and multifaceted. Implications for further supporting children’s emotional development via parent involvement are discussed.

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24. Singh JK, Kakkar D. Hybrid similarity based feature selection and cascade deep maxout fuzzy network for Autism Spectrum Disorder detection using EEG signal. Comput Biol Chem;2024 (Aug 22);113:108177.

Autism Spectrum Disorder (ASD) is a neurological disorder that influences a person’s comprehension and way of behaving. It is a lifetime disability that cannot be completely treated using any therapy up to date. Nevertheless, in time identification and continuous therapies have a huge effect on autism patients. The existing models took a long time to confirm the diagnosis process and also, it is highly complex to differentiate autism from various developmental disorders. To facilitate early diagnosis by providing timely intervention, saving healthcare costs and reducing stress for the family in the long run, this research introduces an affordable and straightforward diagnostic model to detect ASD using EEG and deep learning models. Here, a hybrid deep learning model called Cascade deep maxout fuzzy network (Cascade DMFN) is proposed to identify ASD and it is achieved by the integration of Deep Maxout Network (DMN) and hybrid cascade neuro-fuzzy. Moreover, hybrid similarity measures like Canberra distance and Kumar-hassebrook is employed to conduct the feature selection technique. Also, the EEG dataset and BCIAUT_P300 dataset are used for analyzing the designed Cascade DMFN for detecting Autism Spectrum Disorder. The designed Cascade DMFN has outperformed other classical models by yielding a high accuracy of 0.930, Negative Predictive Value (NPV) of 0.919, Positive Predictive Value (PPV) of 0.923, True Negative Rate (TNR) of 0.926, and True Positive Rate (TPR) of 0.934.

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25. Situmorang DDB. Discussion, implications, and recommendations of several alternative interventions to intervene suicidal ideation in youth with autism spectrum disorder. Asian J Psychiatr;2024 (Aug 30);101:104196.

The purpose of this article is to provide an additional point of view containing discussion, implications, and recommendations for intervention to autistic persons who have suicidal ideation and behavior. Therefore, the author hopes that this article can complement reports on several previous studies that have had an extraordinary impact.

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26. Tomasello DL, Barrasa MI, Mankus D, Alarcon KI, Lytton-Jean AKR, Liu XS, Jaenisch R. Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Sci Rep;2024 (Sep 4);14(1):20565.

Studies on MECP2 function and its implications in Rett Syndrome (RTT) have traditionally centered on neurons. Here, using human embryonic stem cell (hESC) lines, we modeled MECP2 loss-of-function to explore its effects on astrocyte (AST) development and dysfunction in the brain. Ultrastructural analysis of RTT hESC-derived cerebral organoids revealed significantly smaller mitochondria compared to controls (CTRs), particularly pronounced in glia versus neurons. Employing a multiomics approach, we observed increased gene expression and accessibility of a subset of nuclear-encoded mitochondrial genes upon mutation of MECP2 in ASTs compared to neurons. Analysis of hESC-derived ASTs showed reduced mitochondrial respiration and altered key proteins in the tricarboxylic acid cycle and electron transport chain in RTT versus CTRs. Additionally, RTT ASTs exhibited increased cytosolic amino acids under basal conditions, which were depleted upon increased energy demands. Notably, mitochondria isolated from RTT ASTs exhibited increased reactive oxygen species and influenced neuronal activity when transferred to cortical neurons. These findings underscore MECP2 mutation’s differential impact on mitochondrial and metabolic pathways in ASTs versus neurons, suggesting that dysfunctional AST mitochondria may contribute to RTT pathophysiology by affecting neuronal health.

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27. Wei L, Xu X, Su Y, Lan M, Wang S, Zhong S. Abnormal multimodal neuroimaging patterns associated with social deficits in male autism spectrum disorder. Hum Brain Mapp;2024 (Sep);45(13):e70017.

Atypical social impairments (i.e., impaired social cognition and social communication) are vital manifestations of autism spectrum disorder (ASD) patients, and the incidence rate of ASD is significantly higher in males than in females. Characterizing the atypical brain patterns underlying social deficits of ASD is significant for understanding the pathogenesis. However, there are no robust imaging biomarkers that are specific to ASD, which may be due to neurobiological complexity and limitations of single-modality research. To describe the multimodal brain patterns related to social deficits in ASD, we highlighted the potential functional role of white matter (WM) and incorporated WM functional activity and gray matter structure into multimodal fusion. Gray matter volume (GMV) and fractional amplitude of low-frequency fluctuations of WM (WM-fALFF) were combined by fusion analysis model adopting the social behavior. Our results revealed multimodal spatial patterns associated with Social Responsiveness Scale multiple scores in ASD. Specifically, GMV exhibited a consistent brain pattern, in which salience network and limbic system were commonly identified associated with all multiple social impairments. More divergent brain patterns in WM-fALFF were explored, suggesting that WM functional activity is more sensitive to ASD’s complex social impairments. Moreover, brain regions related to social impairment may be potentially interconnected across modalities. Cross-site validation established the repeatability of our results. Our research findings contribute to understanding the neural mechanisms underlying social disorders in ASD and affirm the feasibility of identifying biomarkers from functional activity in WM.

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