1. Boettcher J, Orm S, Fjermestad KW. Autism traits, social withdrawal, and behavioral and emotional problems in a Norwegian cohort of adolescents with rare genetic disorders. Res Dev Disabil;2024 (Feb 16);147:104699.

BACKGROUND: Adolescents with rare genetic disorders represent a population that can be at risk in psychosocial terms. Despite its importance, the association of autism traits and social withdrawal in behavioral and emotional problems in adolescents with rare genetic disorders remains understudied. AIM: The study aimed to empirically examine the clinical characteristics of adolescents with rare genetic disorders with a behavior theory-driven approach. METHOD: We investigated the behavioral and emotional problems and current and lifetime autistic traits in a sample of 93 Norwegian adolescents (M(age) = 13.2 years, SD(age) = 2.4, range(age) 10-17, 62.4% females, 37.6% males) with various rare genetic disorders. The adolescents were investigated cross-sectionally utilizing standardized psychometric questionnaires rated by their parents. RESULTS: More current and lifetime autistic traits and social withdrawal were all associated with more internalizing problems. Further analyses demonstrated that social withdrawal partially mediated the positive association between current autistic traits and internalizing problems. In contrast, social withdrawal fully mediated the positive association between lifetime autistic traits and internalizing problems. CONCLUSION AND IMPLICATIONS: Our results demonstrate important characteristics of adolescents with rare genetic disorders that may guide clinicians and future interventions. Social withdrawal may be prodromal to internalizing problems such as anxiety and depression. Thus, clinically addressing social withdrawal can represent a means to prevent internalizing problems in adolescents with rare genetic disorders and autistic traits.

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2. Chazin KT, Ledford JR, Wilson-Moses JM, Rajaraman A, Juárez AP. Centering Autistic Perspectives: Social Acceptability of Goals, Learning Contexts, and Procedures for Young Autistic Children. J Autism Dev Disord;2024 (Feb 17)

Despite the importance of centering autistic perspectives in educational decision-making for autistic children, few studies have directly assessed autistic perspectives on the social acceptability of early childhood practices. We conducted an online survey to recruit perspectives of autistic adults on a current, comprehensive range of educational practices typically employed with autistic children. We also extended the survey to caregivers and early childhood practitioners, to identify commonalities and discrepancies between shareholder groups. We conducted a descriptive survey study to assess social acceptability of goals, learning contexts, and procedures typically implemented with young autistic children. We received responses from 660 individuals, 226 of whom identified as autistic. For Likert scale and ranked items, we reported median rating and ranking for each item, by shareholder group. For open-ended questions, we conducted open and axial coding, to determine consistent themes within and across shareholder groups. Respondents reported (a) high acceptability for goals promoting self-determination and low social validity for goals promoting masking; (b) high acceptability for antecedent interventions and low social validity for some forms of extinction; (c) that appropriate learning environments are highly context dependent, varying with individual needs; and (d) that the child is the most important shareholder in educational decision-making. We make recommendations to practitioners in response to survey results, including (a) respecting autistic culture and characteristics in selecting goals; (b) considering social, emotional, and psychological needs in selecting procedures; and (c) individualizing goals, learning contexts, and procedures based on the child’s perspectives and unique needs.

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3. Fu Y, Zhang YL, Liu RQ, Xu MM, Xie JL, Zhang XL, Xie GM, Han YT, Zhang XM, Zhang WT, Zhang J, Zhang J. Exosome lncRNA IFNG-AS1 derived from mesenchymal stem cells of human adipose ameliorates neurogenesis and ASD-like behavior in BTBR mice. J Nanobiotechnology;2024 (Feb 17);22(1):66.

BACKGROUND: The transplantation of exosomes derived from human adipose-derived mesenchymal stem cells (hADSCs) has emerged as a prospective cellular-free therapeutic intervention for the treatment of neurodevelopmental disorders (NDDs), as well as autism spectrum disorder (ASD). Nevertheless, the efficacy of hADSC exosome transplantation for ASD treatment remains to be verified, and the underlying mechanism of action remains unclear. RESULTS: The exosomal long non-coding RNAs (lncRNAs) from hADSC and human umbilical cord mesenchymal stem cells (hUCMSC) were sequenced and 13,915 and 729 lncRNAs were obtained, respectively. The lncRNAs present in hADSC-Exos encompass those found in hUCMSC-Exos and are associated with neurogenesis. The biodistribution of hADSC-Exos in mouse brain ventricles and organoids was tracked, and the cellular uptake of hADSC-Exos was evaluated both in vivo and in vitro. hADSC-Exos promote neurogenesis in brain organoid and ameliorate social deficits in ASD mouse model BTBR T + tf/J (BTBR). Fluorescence in situ hybridization (FISH) confirmed lncRNA Ifngas1 significantly increased in the prefrontal cortex (PFC) of adult mice after hADSC-Exos intraventricular injection. The lncRNA Ifngas1 can act as a molecular sponge for miR-21a-3p to play a regulatory role and promote neurogenesis through the miR-21a-3p/PI3K/AKT axis. CONCLUSION: We demonstrated hADSC-Exos have the ability to confer neuroprotection through functional restoration, attenuation of neuroinflammation, inhibition of neuronal apoptosis, and promotion of neurogenesis both in vitro and in vivo. The hADSC-Exos-derived lncRNA IFNG-AS1 acts as a molecular sponge and facilitates neurogenesis via the miR-21a-3p/PI3K/AKT signaling pathway, thereby exerting a regulatory effect. Our findings suggest a potential therapeutic avenue for individuals with ASD.

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4. Godoy-Giménez M, García-Pérez Á, Cañadas F, Estévez AF, Sayans-Jiménez P. The Broad Autism Phenotype-International Test (BAP-IT): A two-domain-based test for the assessment of the broad autism phenotype. Autism;2024 (Feb 17):13623613241228887.

The broad autism phenotype refers to a group of behaviors related to autism spectrum disorder, but that appear to a lesser extent. Its assessment has been performed through outdated broad autism phenotype/autism spectrum disorder definitions and tests. To address this problem, this study presents the development of a new test, the Broad Autism Phenotype-International Test, a 20-item measure consisting of two dimensions, SOCIAL-BAP and RIRE-BAP, targeting the two-domain operationalization of autism spectrum disorder in Spain and the United Kingdom. Unlike the Broad Autism Phenotype Questionnaire, this test received empirical support as a quick and effective broad autism phenotype measure that can facilitate both broad autism phenotype/autism spectrum disorder research and interventions. This is the first step to studying the BAP in several Spanish and English-speaking countries.

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5. Heidari N, Kumaran K, Pagano JJ, Hornberger LK. Natural History of Secundum ASD in Preterm and Term Neonates: A Comparative Study. Pediatr Cardiol;2024 (Feb 16)

Atrial septal defects (ASDs) are common in neonates. Although past studies suggest ASDs  ≥ 3 mm in term neonates (TNs) are less likely to close, there is paucity of data regarding the natural history in preterm neonates (PNs), information that would inform surveillance. We sought to compare spontaneous closure rates and need for intervention for ASDs in TNs/near term (≥ 36 weeks) versus PNs (< 36 weeks). We included all TNs and PNs who underwent echocardiography at ≤ 1 month between 2010 and 2018 in our institution with an ASD ≥ 3 mm, without major congenital heart disease, and with repeat echocardiogram(s). Spontaneous resolution was defined as size diminution to < 3 mm or closure. We included 156 TNs (mean gestational age at birth 38.6 ± 1.4 weeks) and 156 PNs (29.6 ± 3.7 weeks) with a mean age at follow-up of 16 ± 19 and 15 ± 21 months, respectively (p = 0.76). Based on maximum color Doppler diameter, in TNs, ASD resolution occurred in 95% of small (3-5 mm), 87% of moderate (5.1-8 mm), and 60% of large (> 8 mm) defects; whereas, in PNs, resolution occurred in 79% of small, 76% of moderate, and 33% of large ASDs. There was a significant association between size and ASD resolution in TNs (p = 0.003), but not PNs (p = 0.17). Overall, ASD resolution rate was higher in TNs (89%) versus PNs (78%) (p = 0.009), and fewer TNs (1%) compared to PNs (7%) required ASD intervention (p = 0.02). Most ASDs identified in TNs and PNs spontaneously resolve. PNs, however, demonstrate lower ASD resolution and higher intervention rates within all size groups. These data should inform follow-up of affected neonates.

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6. Iyer SH, Yeh MY, Netzel L, Lindsey MG, Wallace M, Simeone KA, Simeone TA. Dietary and Metabolic Approaches for Treating Autism Spectrum Disorders, Affective Disorders and Cognitive Impairment Comorbid with Epilepsy: A Review of Clinical and Preclinical Evidence. Nutrients;2024 (Feb 17);16(4)

Epilepsy often occurs with other neurological disorders, such as autism, affective disorders, and cognitive impairment. Research indicates that many neurological disorders share a common pathophysiology of dysfunctional energy metabolism, neuroinflammation, oxidative stress, and gut dysbiosis. The past decade has witnessed a growing interest in the use of metabolic therapies for these disorders with or without the context of epilepsy. Over one hundred years ago, the high-fat, low-carbohydrate ketogenic diet (KD) was formulated as a treatment for epilepsy. For those who cannot tolerate the KD, other diets have been developed to provide similar seizure control, presumably through similar mechanisms. These include, but are not limited to, the medium-chain triglyceride diet, low glycemic index diet, and calorie restriction. In addition, dietary supplementation with ketone bodies, polyunsaturated fatty acids, or triheptanoin may also be beneficial. The proposed mechanisms through which these diets and supplements work to reduce neuronal hyperexcitability involve normalization of aberrant energy metabolism, dampening of inflammation, promotion of endogenous antioxidants, and reduction of gut dysbiosis. This raises the possibility that these dietary and metabolic therapies may not only exert anti-seizure effects, but also reduce comorbid disorders in people with epilepsy. Here, we explore this possibility and review the clinical and preclinical evidence where available.

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7. Jin T, Pang Q, Huang W, Xing D, He Z, Cao Z, Zhang T. Particulate matter 2.5 causally increased genetic risk of autism spectrum disorder. BMC Psychiatry;2024 (Feb 16);24(1):129.

BACKGROUND: Growing evidence suggested that particulate matter (PM) exhibit an increased risk of autism spectrum disorder (ASD). However, the causal association between PM and ASD risk remains unclear. METHODS: We performed two-sample Mendelian randomization (MR) analyses, using instrumental variables (IVs) sourced from the largest genome-wide association studies (GWAS) databases. We employed three MR methods: inverse-variance weighted (IVW), weighted median (WM), and MR-Egger, with IVW method serving as our primary MR method. Sensitivity analyses were performed to ensure the stability of these findings. RESULTS: The MR results suggested that PM(2.5) increased the genetic risk of ASD (β = 2.41, OR = 11.13, 95% CI: 2.54-48.76, P < 0.01), and similar result was found for PM(2.5) absorbance (β = 1.54, OR = 4.67, 95% CI: 1.21-18.01, P = 0.03). However, no such association was found in PM(10) (β = 0.27, OR = 1.30, 95% CI: 0.72-2.36, P = 0.38). After adjusting for the false discovery rate (FDR) correction, our MR results remain consistent. Sensitivity analyses did not find significant heterogeneity or horizontal pleiotropy. CONCLUSIONS: Our findings indicate that PM(2.5) is a potential risk factor for ASD. Effective strategies to mitigate air pollutants might lead to a reduced incidence of ASD.

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8. Keefer A, Perrin J, Singh V, Holingue C, Winchell S, Vasa RA. A pilot, single-arm feasibility study of an integrated cognitive-behavioral treatment for anxiety in young autistic children. J Pediatr Psychol;2024 (Feb 17);49(2):131-141.

OBJECTIVE: Anxiety is prevalent in young autistic children under 7 years of age. Yet there is a paucity of empirically based interventions for this age group. DINO Strategies for Anxiety and Uncertainty Reduction (DINOSAUR) is an innovative cognitive behavioral intervention that seeks to optimize treatment response in young autistic children by targeting anxiety and the contributing mechanisms of intolerance of uncertainty and parental accommodation using a telehealth delivery model. This pilot, single-arm study examines the preliminary feasibility of DINOSAUR. METHODS: Fourteen autistic children ages 4-6 years with average language and cognitive skills and their parents received the intervention. Quantitative and qualitative data pertaining to parent satisfaction and treatment outcomes were collected. RESULTS: Attendance, retention, and parent satisfaction ratings offer preliminary support for the feasibility of the treatment model. Change in clinical severity ratings on a semi-structured parent interview of anxiety and parents’ qualitative report suggests the potential to benefit young autistic children. CONCLUSIONS: Results support future study of the DINOSAUR model in a larger, randomized controlled trial.

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9. Randell E, McNamara R, Busse M, Delport S, Williams-Thomas R, Maboshe W, Gillespie D, Milosevic S, Brookes-Howell L, Wright M, Hastings RP, McKigney AM, Glarou E, Ahuja A. Exploring critical intervention features and trial processes in the evaluation of sensory integration therapy for autistic children. Trials;2024 (Feb 17);25(1):131.

BACKGROUND: We evaluated the clinical and cost-effectiveness of manualised sensory integration therapy (SIT) for autistic children with sensory processing difficulties in a two-arm randomised controlled trial. Trial processes and contextual factors which may have affected intervention outcomes were explored within a nested process evaluation. This paper details the process evaluation methods and results. We also discuss implications for evaluation of individual level, tailored interventions in similar populations. METHODS: The process evaluation was conducted in line with Medical Research Council guidance. Recruitment, demographics, retention, adherence, and adverse effects are reported using descriptive statistics. Fidelity of intervention delivery is reported according to the intervention scoring manual. Qualitative interviews with therapists and carers were undertaken to explore the acceptability of the intervention and trial processes. Qualitative interviews with carers explored potential contamination. RESULTS: Recruitment, reach and retention within the trial met expected thresholds. One hundred thirty-eight children and carers were recruited (92% of those screened and 53.5% of those who expressed an interest) with 77.5% retained at 6 months and 69.9% at 12 months post-randomisation. The intervention was delivered with structural and process fidelity with the majority (78.3%) receiving a ‘sufficient dose’ of intervention. However, there was considerable individual variability in the receipt of sessions. Carers and therapists reported that trial processes were generally acceptable though logistical challenges such as appointment times, travel and COVID restrictions were frequent barriers to receiving the intervention. No adverse effects were reported. CONCLUSIONS: The process evaluation was highly valuable in identifying contextual factors that could impact the effectiveness of this individualised intervention. Rigorous evaluations of interventions for autistic children are important, especially given the limitations such as limited sample sizes and short-term follow-up as faced by previous research. One of the challenges lies in the variability of outcomes considered important by caregivers, as each autistic child faces unique challenges. It is crucial to consider the role of parents or other caregivers in facilitating access to these interventions and how this may impact effectiveness. TRIAL REGISTRATION: This trial is registered as ISRCTN14716440. August 11, 2016.

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10. Richard Williams N, Hurt-Thaut C, Thaut MH. Factors Influencing Music Therapists’ Retention of Clinical Hours with Autistic Clients over Telehealth During the COVID-19 Pandemic. J Music Ther;2024 (Feb 17)

The 2019 coronavirus disease pandemic influenced music therapists to migrate services to online platforms, though some lost clinical hours during the pandemic when telehealth was not a viable option. This survey study aimed to ascertain factors that helped music-based therapists to continue serving autistic clients over telehealth during the pandemic. We surveyed 193 accredited music therapists located mainly in Canada and the US. In addition to gathering data on general perceptions of telehealth music therapy and Neurologic Music Therapy (NMT), one-way ANOVAs were applied to determine differences in percent-change loss of clinical hours for music therapists: (1) working in different employment settings; (2) serving children, youth, adults, or a mixture of ages; and (3) practicing NMT or not. The general perception of telehealth music therapy was positive, and NMTs believed that the clear protocols and transformation design model were helpful to them in adapting services to telehealth. There were no significant differences in percent-change of clinical hours among music therapists in different employment settings or serving different client age groups. Music therapists who said they practiced within the NMT treatment model lost a significantly lower percentage of clinical hours with autistic clients than those who did not practice NMT. Possible reasons for this result and the need for further research are discussed.

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11. Rivard M, Mello C, Patel S, Morin M, Morin D. A Window into the Use of Post-diagnostic Services for Autism and Parents’ Perspective on the Quality of Early Childhood Services Trajectory in a Canadian Province. J Autism Dev Disord;2024 (Feb 17)

The pathway for post-diagnostic services for autism tends to be complex, heterogeneous, and fraught with delays. This situation has repercussions for families’ experience with care systems, the quality of early interventions, and family adjustment. To date, studies of parents’ point of view on autism services have predominantly focused on the diagnostic phase of the services trajectory. The goal of the present study was to investigate the perspective of parents on autism early childhood services within a public healthcare and social services system in a Canadian province (Québec). Participants were 91 parents who completed a structured framework for the evaluation of the quality of services trajectories, the Evaluation of the services Trajectory in Autism by Parents (ETAP; Mello et al., in Research in Developmental Disabilities 133, 2023). Approximately three-quarters of families received interim services (e.g., punctual speech therapy interventions) for which they had overall neutral-to-positive appraisals but viewed as having comparably low validity and continuity. Although all children diagnosed with autism are entitled to receive early behavioral intervention (EBI) dispensed by the public health and social services system, approximately a quarter of families did not receive this service. Families who received EBI evaluated this service positively on all ETAP dimensions. The empathy (i.e., parent-provider relationships) dimension was rated highest for both interim and EBI services. Some systemic, family, and child-related factors were associated with the perceived quality of services for both interim and early childhood services. Our results emphasize the need for services for children and families as soon as possible, both during assessment and after diagnosis.

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