1. Bartoshesky LE, Wright C. Intellectual Developmental Disabilities:: Definitions, Diagnosis, and Delivery of Care. Delaware journal of public health. 2021; 7(2): 6-8.

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2. Chau KK, Zhang P, Urresti J, Amar M, Pramod AB, Chen J, Thomas A, Corominas R, Lin GN, Iakoucheva LM. Full-length isoform transcriptome of the developing human brain provides further insights into autism. Cell reports. 2021; 36(9): 109631.

Alternative splicing plays an important role in brain development, but its global contribution to human neurodevelopmental diseases (NDDs) requires further investigation. Here we examine the relationships between splicing isoform expression in the brain and de novo loss-of-function mutations from individuals with NDDs. We analyze the full-length isoform transcriptome of the developing human brain and observe differentially expressed isoforms and isoform co-expression modules undetectable by gene-level analyses. These isoforms are enriched in loss-of-function mutations and microexons, are co-expressed with a unique set of partners, and have higher prenatal expression. We experimentally test the effect of splice-site mutations and demonstrate exon skipping in five NDD risk genes, including SCN2A, DYRK1A, and BTRC. Our results suggest that the splice site mutation in BTRC reduces translational efficiency, likely affecting Wnt signaling through impaired degradation of β-catenin. We propose that functional effects of mutations should be investigated at the isoform- rather than gene-level resolution.

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3. Gandhi R, Ruxmohan S, Puranik CP. Association Between Autism Spectrum Disorder and Dental Anomalies of the Permanent Dentition. Pediatric dentistry. 2021; 43(4): 307-12.

Purpose: The purpose of this study was to evaluate the association between dental anomalies of the permanent dentition and autism spectrum disorder (ASD). Methods: The dental and medical records and panoramic radiographs of 200 six- to 17-year-old subjects with a diagnosis of ASD were assessed retrospectively. The controls were 200 age- and gender-matched healthy children. The individual counts of shape, number, and positional dental anomalies and the total counts of all anomalies were recorded. Medical comorbidities were defined and documented as two subgroups: ASD subjects with (ASD-C) or without (ASD-NC) comorbidities. Results: Seventy-seven percent of ASD subjects had at least one comorbidity. Sixty-five percent of ASD subjects demonstrated at least one dental anomaly in comparison to controls (53 percent). There were no significant differences for the prevalence of number, shape, positional, or total anomalies between control, ASD-C, or ASD-NC groups. The ASD-NC group had a significantly higher proportion of pyramidal molars (P=0.02) and ectopically erupting teeth (P=0.04) when compared to controls. Conclusions: There were no significant differences in prevalence for shape, number, or positional anomalies in the permanent dentition between autism spectrum disorder subjects and healthy controls. The prevalence of pyramidal teeth and ectopic eruption was significantly associated with ASD.

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4. Liang X, Li R, Wong SHS, Sum RKW, Wang P, Yang B, Sit CHP. The Effects of Exercise Interventions on Executive Functions in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review and Meta-analysis. Sports medicine (Auckland, NZ). 2022; 52(1): 75-88.

BACKGROUND: Both chronic and acute exercise interventions have reported positive effects on executive functions (EFs) in general populations. However, data on changes in EFs in children and adolescents with autism spectrum disorder (ASD) in response to exercise interventions are still unclear. OBJECTIVE: This systematic review and meta-analysis aimed to synthesize available empirical studies concerning the effects of exercise interventions on EFs in children and adolescents with ASD. METHODS: In accordance with the Preferred Reporting Items for Systematic Review and Meta-analyses guidelines, the electronic databases CINAHL Complete (via EBSCOhost), SPORTDiscus with Full Text (via EBSCOhost), MEDLINE (via EBSCOhost), Web of Science, ProQuest, and Education Resources Information Center (ERIC; via EBSCOhost) were searched from inception to January 2021. Two authors independently extracted data and conducted a risk-of-bias analysis using the Physiotherapy Evidence Database scale. Randomized controlled trials/quasi-experimental designs that used acute or chronic exercise interventions and assessed EFs through neurocognitive tasks or questionnaires among children and adolescents with ASD were included. In total, 259 articles were identified, of which 15 full texts were independently assessed for eligibility by two authors. In total, 14 articles underwent systematic review, and seven were selected for meta-analysis. RESULTS: Overall, chronic exercise interventions had a small to moderate positive effect on overall EFs in children and adolescents with ASD (g = 0.342; 95% confidence interval [CI] 0.084-0.600; p < 0.01). Regarding domain-specific EFs, chronic exercise interventions had a small to moderate positive effect on cognitive flexibility (g = 0.312; 95% CI 0.053-0.570; p < 0.01) and inhibitory control (g = 0.492; 95% CI 0.188-0.796; p < 0.01). However, our review found a non-significant effect size (g = 0.212; 95% CI - 0.088 to 0.512) on working memory. CONCLUSIONS: Chronic exercise interventions appear to have beneficial effects on overall EFs in children and adolescents with ASD, particularly in relation to cognitive flexibility and inhibitory control.

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5. Ma ZH, Lu B, Li X, Mei T, Guo YQ, Yang L, Wang H, Tang XZ, Ji ZZ, Liu JR, Xu LZ, Yang YL, Cao QJ, Yan CG, Liu J. Atypicalities in the developmental trajectory of cortico-striatal functional connectivity in autism spectrum disorder. Autism : the international journal of research and practice. 2021: 13623613211041904.

Autism spectrum disorder has long been conceptualized as a disorder of « atypical development of functional brain connectivity (which refers to correlations in activity levels of distant brain regions). » However, most of the research has focused on the connectivity between cortical regions, and much remains unknown about the developmental changes of functional connectivity between subcortical and cortical areas in autism spectrum disorder. We used the technique of resting-state functional magnetic resonance imaging to explore the developmental characteristics of intrinsic functional connectivity (functional brain connectivity when people are asked not to do anything) between subcortical and cortical regions in individuals with and without autism spectrum disorder aged 6-30 years. We focused on one important subcortical structure called striatum, which has roles in motor, cognitive, and affective processes. We found that cortico-striatal intrinsic functional connectivities showed opposite developmental trajectories in autism spectrum disorder and typically developing individuals, with connectivity increasing with age in autism spectrum disorder and decreasing or constant in typically developing individuals. We also found significant negative behavioral correlations between those atypical cortico-striatal intrinsic functional connectivities and autistic symptoms, such as social-communication deficits, and restricted/repetitive behaviors and interests. Taken together, this work highlights that the atypical development of cortico-subcortical functional connectivity might be largely involved in the neuropathological mechanisms of autism spectrum disorder.

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6. Mir SL, Sahito AM, Ullah I. Gastro-Intestinal Symptoms and Autism Spectrum Disorder: A Potential Link [Letter]. Clinical and experimental gastroenterology. 2021; 14: 331-2.

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7. Noorazar SG, Jabbari Moghaddam Y, Kharzaee R, Sohrabpour M. Comparison of Auditory Brain Stem Responses and Otoacoustic Emission of Autism with Healthy Children. Galen medical journal. 2020; 9: e1937.

BACKGROUND: Autism is a neurodevelopment disorder, including difficulty in establishing relationships and social interaction, difficulty in communication, performing restricted, and repetitive behaviors. The impaired reception and integration of sensory information especially auditory data are one of the main characteristics of children with autism. According to various studies, the brain stem plays a key role in the reception and integration of auditory and sensory data. Hence, this study aims to comparison auditory brain stem responses (ABR) and otoacoustic emission (OAE) of autism patients with healthy children. MATERIALS AND METHODS: This case-control study was performed on 20 autism children (4-8 years old) as case group who referred to psychiatry clinics affiliated with Tabriz University of Medical Sciences and 20 healthy age-matched as the control group. The severity of autism was evaluated by the Gilliam Autism Rating Scale (GARS). Also, ABR and OAE were recorded, and all data compared with the healthy children. RESULTS: The latencies between the waves III-V and I-V bilaterally, and wave V bilaterally and wave I in the left ear showed a significant increase in children with autism compared to the healthy group. CONCLUSION: This study shows that there was a reduced nerve conduction velocity in the auditory pathway of the brain stem in children with autism compared to healthy children.

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8. Sherby MR, Walsh TJ, Lai AM, Neidich JA, Balls-Berry JE, Morris SM, Head R, Prener CG, Newland JG, Gurnett CA. SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities. Journal of neurodevelopmental disorders. 2021; 13(1): 31.

BACKGROUND: Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives of this study were to determine SARS-CoV-2 positivity and in-school transmission rates using weekly screening tests for school staff and students and describe the concurrent deployment of mitigation strategies in six schools for children with IDD. METHODS: From November 23, 2020, to May, 28, 2021, weekly voluntary screening for SARS-CoV-2 with a high sensitivity molecular-based saliva test was offered to school staff and students. Weekly positivity rates were determined and compared to local healthcare system and undergraduate student screening data. School-based transmission was assessed among participants quarantined for in-school exposure. School administrators completed a standardized survey to assess school mitigation strategies. RESULTS: A total of 59 students and 416 staff participated. An average of 304 school staff and students were tested per week. Of 7289 tests performed, 21 (0.29%) new SARS-CoV-2 positive cases were identified. The highest weekly positivity rate was 1.2% (n = 4) across all schools, which was less than community positivity rates. Two cases of in-school transmission were identified, each among staff, representing 2% (2/103) of participants quarantined for in-school exposure. Mitigation strategies included higher than expected student mask compliance, reduced room capacity, and phased reopening. CONCLUSIONS: During 24 weeks that included the peak of the COVID-19 pandemic in winter 2020-21, we found lower rates of SARS-CoV-2 screening test positivity among staff and students of six schools for children with IDD compared to community rates. In-school transmission of SARS-CoV-2 was low among those quarantined for in-school exposure. However, the impact of the emerging SARS-CoV-2 Delta variant on the effectiveness of these proven mitigation strategies remains unknown. TRIAL REGISTRATION: Prior to enrollment, this study was registered at ClinicalTrials.gov on September 25, 2020, identifier NCT04565509 , titled Supporting the Health and Well-being of Children with Intellectual and Developmental Disability During COVID-19 Pandemic.

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9. Snijder MIJ, Langerak IPC, Kaijadoe SPT, Buruma ME, Verschuur R, Dietz C, Buitelaar JK, Oosterling IJ. Parental Experiences with Early Identification and Initial Care for their Child with Autism: Tailored Improvement Strategies. Journal of autism and developmental disorders. 2021.

Whereas it is well documented how parents experience the diagnostic process of their child with autism spectrum disorder (ASD), less is known about parental experiences with the course of the early identification process and first steps in receiving care for their child with ASD symptoms. This mixed-method study investigated these experiences as well as barriers and improvement strategies regarding early detection in the Netherlands. A parental survey (N = 45) showed that, on average, initial concerns started at 22 months. A focus group (N = 10) revealed multiple barriers and proposed strategies of improvement in three domains: « Knowledge and Expertise », « Attention to Parental Needs » and « System and Organization ». Strategies to improve early identification will be discussed based on parental perspectives and professional perspectives.

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10. Takahashi Y, Murata S, Idei H, Tomita H, Yamashita Y. Publisher Correction: Neural network modeling of altered facial expression recognition in autism spectrum disorders based on predictive processing framework. Scientific reports. 2021; 11(1): 17708.

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11. Tschida JE, Yerys BE. Real-world executive functioning for autistic children in school and home settings. Autism : the international journal of research and practice. 2021: 13623613211041189.

Executive functioning skills are important for children to be able to control thoughts, emotions, and actions, and for their ability to adapt to different settings. Previous studies have found that autistic children have difficulty with executive functioning, but most of these studies took place in the home setting. Executive functioning skills in autistic children have not yet been fully examined in the school setting. This is a knowledge gap that needs to be addressed because the school setting is potentially one of the most demanding in terms of executive functioning and is a setting where executive function interventions are already being used for autistic children. In order to learn more about executive functioning for autistic children in the school setting, this study compared ratings of executive function from autistic children’s caregivers and school professionals. The study found that autistic children experience similar but not identical executive function challenges across school and home settings and that supports may differ in each setting. Having information about differences in executive functioning challenges and supports for autistic children across settings can help lead to development of supports that are tailored to each setting.

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12. Unwin KL, Powell G, Jones CRG. A sequential mixed-methods approach to exploring the experiences of practitioners who have worked in multi-sensory environments with autistic children. Research in developmental disabilities. 2021; 118: 104061.

BACKGROUND & AIMS: Multi-Sensory Environments (MSEs) are common in special-needs schools and are widely used with autistic pupils. In this exploratory sequential mixed-methods study, we explored the beliefs and experiences of practitioners who regularly use MSEs with autistic pupils. METHODS: Qualitative interviews with ten practitioners (9 female, aged 24-62 years) identified six themes reflecting beliefs about MSE use with autistic children. To explore wider relevance of these themes, codes from the themes were converted into a 28-item online survey. RESULTS: Qualitative themes included: (1) MSEs are perceived to benefit behaviour, attention and mood, (2) MSEs have distinct properties that facilitate benefits, (3) MSE use should be centred on the child’s needs, (4) MSEs are most effective when the practitioner plays an active role, (5) MSEs can be used for teaching and learning, and (6) MSE use can present challenges. Responses to the survey (n = 102, 93 female, aged 21-68 years) generally showed good agreement with the original interviews, and there was modest evidence that MSE training affected beliefs about the benefits of MSE use. CONCLUSIONS & IMPLICATIONS: These results provide insight into possible benefits of MSE use for autistic children and are relevant when considering the development of practitioner guidelines.

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13. Waterhouse L. Is autism a unitary biological entity? A revised and extended response to « A radical change in our autism research strategy is needed: Back to prototypes » (Mottron, 2021, Autism Research). Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2241-2.

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