Pubmed du 23/02/21
1. Allison CK, Van Puymbroeck M, Crowe BM, Schmid AA, Townsend JA. The impact of an autonomy-supportive yoga intervention on self-determination in adults with intellectual and developmental disabilities. Complementary therapies in clinical practice. 2021 ; 43 : 101332.
The aim of this study was to examine the impact of an autonomy-supportive yoga intervention on the self-determination of adults with intellectual and developmental disabilities. Research supports the use of autonomy-supportive interventions to increase positive health outcomes with this population. The present study utilized a qualitative approach with eight subjects participating in semi-structured qualitative interviews. Content analysis identified support for three themes related to the impact of yoga : autonomy, relatedness, competence. The results suggested that the yoga intervention may support self-determination for adults with IDD, as the participants’ responses demonstrated increased feelings of autonomy, competence, and relatedness. The results also indicated that an autonomy-supportive yoga intervention can be achieved with adults with intellectual and developmental disabilities by targeting the key constructs of autonomy, relatedness, and competence.
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2. Arnell S, Jerlinder K, Geidne S, Lundqvist LO. Experiences of stakeholder collaboration when promoting participation in physical activity among adolescents with autism spectrum disorder. Disabil Rehabil. 2021 : 1-9.
PURPOSE : Various stakeholders contribute to the development of healthy physical activity habits in adolescents with autism spectrum disorder (ASD). Parents and stakeholders seek collaborative actions but little is still known about such efforts. The purpose of this study was thus to explore how professionals from different services experience stakeholder collaboration when promoting participation in physical activity for these adolescents. METHOD : Five focus group discussions were held with 17 professionals from education, health care, community, and sports organizations, engaged in the promotion of physical activity in adolescents with ASD. The data were analyzed with qualitative content analysis. RESULTS : The discussions revolved around a central theme : Collaboration is needed to promote physical literacy among adolescents with ASD. The professionals though experienced that this collaboration was hampered by the low priority given to physical activity issues within different organizations, by limited resources, lack of knowledge, and unclear roles. CONCLUSIONS : Notwithstanding the professionals’ different roles, all agreed that physical activity issues need to be prioritized and that each stakeholder needs to acknowledge the shared responsibility of collaboration. However, more clear routines for collaboration that include joined efforts but also highlight the organization-specific responsibilities might enhance the collaborative efforts.IMPLICATIONS FOR REHABILITATIONIn-depth understanding of both the adolescents’ needs and the environments in which physical activity is promoted is required if participation in physical activity among adolescents with ASD is to be enhanced.Families and professionals within different organizations need to be supported to collaborate when mapping and meeting the adolescents’ physical activity needs.Issues regarding developing physical activity habits need to be prioritized.Professionals, such as education, health, and community professionals who are important for the promotion of healthy physical activity habits need to be included in multi-stakeholder meetings.
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3. Brasher S, Middour-Oxler B, Chambers R, Calamaro C. Caring for Adults With Autism Spectrum Disorder in the Emergency Department : Lessons Learned From Pediatric Emergency Colleagues. Journal of emergency nursing. 2021.
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4. Chapin SE, McNaughton D, Light J, McCoy A, Caron J, Lee DL. The Effects of AAC Video Visual Scene Display Technology On the Communicative Turns of Preschoolers with Autism Spectrum Disorder. Assistive technology : the official journal of RESNA. 2021.
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5. Deng TA, Tsui BCH. An Untested and Uncooperative Pediatric Patient Undergoing a Dental Procedure Using a Negative Airflow Tent During the Coronavirus Disease 2019 Pandemic : A Case Report. A&A practice. 2021 ; 15(2) : e01398.
The coronavirus disease 2019 (COVID-19) pandemic prompted the creation of novel techniques to protect patients and health care providers. Simulations showed that disposable oxygen face tents act as a physical barrier and can be repurposed as a negative airflow tent. This case study presents a pediatric patient requiring dental surgery, ineligible for preoperative testing for COVID-19 due to developmental delay and aggression. Precautionary measures were taken by means of full personal protective equipment (PPE) and negative airflow tent. The tent added additional protection and is a promising new technique that is disposable, widely available, and offers full access to proceduralists.
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6. Gabis LV, Shaham M, Leon Attia O, Shefer S, Rosenan R, Gabis T, Daloya M. The Weak Link : Hypotonia in Infancy and Autism Early Identification. Frontiers in neurology. 2021 ; 12 : 612674.
Background : Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis. The AAP recommends screening all children for ASD at 18 and 24 months followed by a comprehensive evaluation for children with developmental concerns. More recently it has been recommended that the evaluation should be performed at a younger age, with a diagnosis being made as early as the beginning of the second year of life resulting in earlier intensive intervention. Objective : To assess early developmental milestones in a cohort of children diagnosed with Autism Spectrum Disorder (ASD) in order to find an objective and reliable early marker. We suggest that low muscle tone- hypotonia, is a sign that meets the above criteria of consistency and reliability and may be related to early diagnosis. Methods : We compared age distributions of ASD diagnosis in the presence of hypotonia in a dataset of 5,205 children diagnosed at Keshet Center. One thousand, one hundred eighty-two children (953 males) were diagnosed with ASD and compared to other developmental diagnoses. Within the ASD cohort we further analyzed for gender and pre-maturity differences. Results : In the presence of hypotonia, the mean age for ASD diagnosis was significantly lower (by 1.5 years for males and females) and this effect increased in children born at term as compared to pre-maturity. Conclusions : Hypotonia is a recognizable marker of ASD and may serve as a « red flag » to prompt earlier recognition and neurodevelopmental evaluation toward an autism diagnosis.
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7. Hassiotis A, Langdon PE, Courtenay K. UK Mental Health Act reform : implications for people with intellectual disabilities and autism. Lancet Psychiatry. 2021.
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8. Kato Y, Kuwabara H, Okada T, Munesue T, Benner S, Kuroda M, Kojima M, Yassin W, Eriguchi Y, Kameno Y, Murayama C, Nishimura T, Tsuchiya K, Kasai K, Ozaki N, Kosaka H, Yamasue H. Oxytocin-induced increase in N,N-dimethylglycine and time course of changes in oxytocin efficacy for autism social core symptoms. Mol Autism. 2021 ; 12(1) : 15.
BACKGROUND : Oxytocin is expected as a novel therapeutic agent for autism spectrum disorder (ASD) core symptoms. However, previous results on the efficacy of repeated administrations of oxytocin are controversial. Recently, we reported time-course changes in the efficacy of the neuropeptide underlying the controversial effects of repeated administration ; however, the underlying mechanisms remained unknown. METHODS : The current study explored metabolites representing the molecular mechanisms of oxytocin’s efficacy using high-throughput metabolomics analysis on plasma collected before and after 6-week repeated intranasal administration of oxytocin (48 IU/day) or placebo in adult males with ASD (N = 106) who participated in a multi-center, parallel-group, double-blind, placebo-controlled, randomized controlled trial. RESULTS : Among the 35 metabolites measured, a significant increase in N,N-dimethylglycine was detected in the subjects administered oxytocin compared with those given placebo at a medium effect size (false discovery rate (FDR) corrected P = 0.043, d = 0.74, N = 83). Furthermore, subgroup analyses of the participants displaying a prominent time-course change in oxytocin efficacy revealed a significant effect of oxytocin on N,N-dimethylglycine levels with a large effect size (P(FDR) = 0.004, d = 1.13, N = 60). The increase in N,N-dimethylglycine was significantly correlated with oxytocin-induced clinical changes, assessed as changes in quantifiable characteristics of autistic facial expression, including both of improvements between baseline and 2 weeks (P(FDR) = 0.006, r = – 0.485, N = 43) and deteriorations between 2 and 4 weeks (P(FDR) = 0.032, r = 0.415, N = 37). LIMITATIONS : The metabolites changes caused by oxytocin administration were quantified using peripheral blood and therefore may not directly reflect central nervous system changes. CONCLUSION : Our findings demonstrate an association of N,N-dimethylglycine upregulation with the time-course change in the efficacy of oxytocin on autistic social deficits. Furthermore, the current findings support the involvement of the N-methyl-D-aspartate receptor and neural plasticity to the time-course change in oxytocin’s efficacy. TRIAL REGISTRATION : A multi-center, parallel-group, placebo-controlled, double-blind, confirmatory trial of intranasal oxytocin in participants with autism spectrum disorders (the date registered : 30 October 2014 ; UMIN Clinical Trials Registry : https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000017703 ) (UMIN000015264).
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9. Kruse Gyldhof D, Stahlhut M, Waehrens EE. Participation and engagement in family activities among girls and young women with Rett syndrome living at home with their parents – a cross-sectional study. Disabil Rehabil. 2021 : 1-11.
PURPOSE : To describe the extent of participation and engagement in family activities and explore variables potentially impacting on these factors in family activities among girls and young women with Rett syndrome (RTT) under the age of 21. MATERIALS AND METHODS : The Child Participation in Family Activities (Child-PFA) questionnaire was sent to parents in the target group (n = 42). Additionally, age, number of siblings at home, ambulation level, clinical severity and level of hand function were recorded to explore possible impact. Data were analyzed using descriptive statistics, Fishers exact test and cross-tables. RESULTS : 23 families participated. Highest degrees of participation and engagement were seen in social and stationary family activities. Indoor activities were frequent and showed high levels of participation and engagement, Outdoor activities were infrequent and showed low levels of participation despite a high degree of engagement. Routine activities were frequent but showed moderate to low participation and engagement. A negative association was found between participation in watching a movie and number of siblings living at home, and positive associations between engagement and age in three family activities. CONCLUSION : Therapists working with this target group may benefit from focusing on engagement in routine activities and modification of family activities.IMPLICATIONS FOR REHABILITATIONTherapists may benefit from focusing on engagement in routine activities in the goal setting process and intervention as they occur on a daily basis, giving the opportunity for development of new skills.Therapists may benefit from focusing on assistive devices or other compensatory strategies for outdoor activities and activities that require a certain amount of hand function.Therapists may benefit from modifying the family’s activities so that they require more social and mental participation and focus on experiencing different types of sensory input e.g., sound, tactile, visual or vestibular input rather than taking part in the activity by using their hands.
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10. Liloia D, Mancuso L, Uddin LQ, Costa T, Nani A, Keller R, Manuello J, Duca S, Cauda F. Gray matter abnormalities follow non-random patterns of co-alteration in autism : Meta-connectomic evidence. Neuroimage Clin. 2021 ; 30 : 102583.
BACKGROUND : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by atypical brain anatomy and connectivity. Graph-theoretical methods have mainly been applied to detect altered patterns of white matter tracts and functional brain activation in individuals with ASD. The network topology of gray matter (GM) abnormalities in ASD remains relatively unexplored. METHODS : An innovative meta-connectomic analysis on voxel-based morphometry data (45 experiments, 1,786 subjects with ASD) was performed in order to investigate whether GM variations can develop in a distinct pattern of co-alteration across the brain. This pattern was then compared with normative profiles of structural and genetic co-expression maps. Graph measures of centrality and clustering were also applied to identify brain areas with the highest topological hierarchy and core sub-graph components within the co-alteration network observed in ASD. RESULTS : Individuals with ASD exhibit a distinctive and topologically defined pattern of GM co-alteration that moderately follows the structural connectivity constraints. This was not observed with respect to the pattern of genetic co-expression. Hub regions of the co-alteration network were mainly left-lateralized, encompassing the precuneus, ventral anterior cingulate, and middle occipital gyrus. Regions of the default mode network appear to be central in the topology of co-alterations. CONCLUSION : These findings shed new light on the pathobiology of ASD, suggesting a network-level dysfunction among spatially distributed GM regions. At the same time, this study supports pathoconnectomics as an insightful approach to better understand neuropsychiatric disorders.
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11. Loss CM, Teodoro L, Rodrigues GD, Moreira LR, Peres FF, Zuardi AW, Crippa JA, Hallak JEC, Abílio VC. Is Cannabidiol During Neurodevelopment a Promising Therapy for Schizophrenia and Autism Spectrum Disorders ?. Frontiers in pharmacology. 2020 ; 11 : 635763.
Schizophrenia and autism spectrum disorders (ASD) are psychiatric neurodevelopmental disorders that cause high levels of functional disabilities. Also, the currently available therapies for these disorders are limited. Therefore, the search for treatments that could be beneficial for the altered course of the neurodevelopment associated with these disorders is paramount. Preclinical and clinical evidence points to cannabidiol (CBD) as a promising strategy. In this review, we discuss clinical and preclinical studies on schizophrenia and ASD investigating the behavioral, molecular, and functional effects of chronic treatment with CBD (and with cannabidivarin for ASD) during neurodevelopment. In summary, the results point to CBD’s beneficial potential for the progression of these disorders supporting further investigations to strengthen its use.
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12. Ramírez-López A, Pastor A, de la Torre R, La Porta C, Ozaita A, Cabañero D, Maldonado R. Role of the endocannabinoid system in a mouse model of Fragile X undergoing neuropathic pain. Eur J Pain. 2021.
BACKGROUND : Neuropathic pain is a complex condition characterized by sensory, cognitive and affective symptoms that magnify the perception of pain. The underlying pathogenic mechanisms are largely unknown and there is an urgent need for the development of novel medications. The endocannabinoid system modulates pain perception and drugs targeting the cannabinoid receptor type 2 (CB2) devoid of psychoactive side effects could emerge as novel analgesics. An interesting model to evaluate the mechanisms underlying resistance to pain is the fragile X mental retardation protein knockout mouse (Fmr1KO), a model of fragile X syndrome that exhibits nociceptive deficits and fails to develop neuropathic pain. METHODS : A partial sciatic nerve ligation was performed to wild-type (WT) and Fmr1KO mice having (HzCB2 and Fmr1KO-HzCB2, respectively) or not (WT and Fmr1KO mice) a partial deletion of CB2 to investigate the participation of the endocannabinoid system on the pain-resistant phenotype of Fmr1KO mice. RESULTS : Nerve injury induced canonical hypersensitivity in WT and HzCB2 mice, whereas this increased pain sensitivity was absent in Fmr1KO mice. Interestingly, Fmr1KO mice partially lacking CB2 lost this protection against neuropathic pain. Similarly, pain-induced depressive-like behaviour was observed in WT, HzCB2 and Fmr1KO-HzCB2 mice, but not in Fmr1KO littermates. Nerve injury evoked different alterations in WT and Fmr1KO mice at spinal and supra-spinal levels that correlated with these nociceptive and emotional alterations. CONCLUSIONS : This work shows that CB2 is necessary for the protection against neuropathic pain observed in Fmr1KO mice, raising the interest in targeting this receptor for the treatment of neuropathic pain. SIGNIFICANCE : Neuropathic pain is a complex chronic pain condition and current treatments are limited by the lack of efficacy and the incidence of important side effects. Our findings show that the pain-resistant phenotype of Fmr1KO mice against nociceptive and emotional manifestations triggered by persistent nerve damage requires the participation of the cannabinoid receptor CB2, raising the interest in targeting this receptor for neuropathic pain treatment. Additional multidisciplinary studies more closely related to human pain experience should be conducted to explore the potential use of cannabinoids as adequate analgesic tools.
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13. Sihombing NRB, Winarni TI, Utari A, van Bokhoven H, Hagerman RJ, Faradz SM. Surveillance and prevalence of fragile X syndrome in Indonesia. Intractable & rare diseases research. 2021 ; 10(1) : 11-6.
Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over the years, however, in Indonesia there is relatively less knowledge on the prevalence of FXS. We reviewed all studies involving FXS screening and cascade testing of the high-risk population in Indonesia for two decades, to elucidate the prevalence, as well as explore the presence of genetic clusters of FXS in Indonesia. The prevalence of FXS in the ID population of Indonesia ranged between 0.9-1.9%, while in the ASD population, the percentage was higher (6.15%). A screening and cascade testing conducted in a small village on Java Island showed a high prevalence of 45% in the ID population, suggesting a genetic cluster. The common ancestry of all affected individuals was suggestive of a founder effect in the region. Routine screening and subsequent cascade testing are essential, especially in cases of ID and ASD of unknown etiology in Indonesia.
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14. Singh J, Lanzarini E, Santosh P. Autonomic Characteristics of Sudden Unexpected Death in Epilepsy in Children-A Systematic Review of Studies and Their Relevance to the Management of Epilepsy in Rett Syndrome. Frontiers in neurology. 2020 ; 11 : 632510.
Aim : To systematically identify and critically appraise studies that investigate the autonomic characteristics of Sudden Unexpected Death in Epilepsy (SUDEP) in the pediatric population. We also wanted to explore how this information would be relevant to the management of epilepsy in patients with Rett Syndrome. Method : Using PRISMA guidelines, a systematic review of PubMed, Scopus, Cochrane, PsycINFO, Embase, and Web of Science databases was performed to identify eligible studies. After extracting data from the included studies, a thematic analysis was undertaken to identify emerging themes. A quality appraisal was also done to assess the quality of the included studies. Results : The systematic search revealed 41 records, and 15 full-text articles on the autonomic characteristics of SUDEP in children were included in the final analysis. Following thematic analysis, three themes were identified (I) modulation in sympathovagal tone, (II) pre- and post-ictal autonomic changes, and (III) other markers of autonomic dysregulation in children with epilepsy. Modulation in sympathovagal tone emerged as the theme with the highest frequency followed by pre- and post-ictal autonomic changes. While the themes provide additional insight into the management of epilepsy in the Rett Syndrome population, the quality of evidence concerning the autonomic characteristics of SUDEP in the pediatric population was low and underscores the importance of much needed research in this area. Conclusion : The mechanism of SUDEP in the pediatric population is complex and involves an interplay between several components of the autonomic nervous system. While direct clinical inferences regarding pediatric SUDEP could not be made, the thematic analysis does suggest that in vulnerable populations such as Rett Syndrome, where there is already a pervasive autonomic dysregulation, pro-active surveillance of the autonomic profile in this patient group would be useful to better manage epilepsy and reduce the SUDEP risk.
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15. Slomski A. Navigators Improve Autism Evaluations but Not Referrals to Care. Jama. 2021 ; 325(8) : 713.
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16. Viviers M, Jongh M, Dickonson L, Malan R, Pike T. Parent-reported feeding and swallowing difficulties of children with Autism Spectrum Disorders (aged 3 to 5 years) compared to typically developing peers : a South African study. African health sciences. 2020 ; 20(1) : 524-32.
BACKGROUND : Research on aspects of neurodevelopment such as feeding and swallowing difficulties in children with Autism Spectrum Disorders (ASD) is limited in low and middle income countries such as South Africa. METHOD : A descriptive comparative group design was used to investigate feeding and swallowing difficulties of young children with ASD in comparison to typically developing peers. The Brief Autism Mealtime Behavioural Inventory (BAMBI) was used. RESULTS : Findings indicated a significant difference in the severity of feeding and swallowing difficulties between the two groups. Difficulties such as food selectivity, sensory processing difficulties, oral-motor difficulties and symptoms of dysphagia were identified. The findings added to the existing global literature on feeding and swallowing difficulties in young children with ASD but provide a unique first perspective on these difficulties in South African children with ASD. CONCLUSION : Findings also highlighted the use of the BAMBI as an adjunct clinical tool to encourage comprehensive parental report during feeding assessment in this population. Cultural adaptation of the BAMBI for future use in African countries should be considered. A better local understanding of the parental perspective on the multidimensional nature of the feeding and swallowing difficulties displayed by young children with ASD was obtained.
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17. Wilson AC. Do animated triangles reveal a marked difficulty among autistic people with reading minds ?. Autism. 2021 : 1362361321989152.
Autistic people are thought to have difficulty with mentalising (our drive to track and understand the minds of other people). Mentalising is often measured by the Frith-Happé Animations task, where individuals need to interpret the interactions of abstract shapes. This review article collated results from over 3000 people to assess how autistic people performed on the task. Analysis showed that autistic people tended to underperform compared to non-autistic people on the task, although the scale of the difference was moderate rather than large. Also, autistic people showed some difficulty with the non-mentalising as well as mentalising aspects of the task. These results raise questions about the scale and specificity of mentalising difficulties in autism. It also remains unclear how well mentalising difficulties account for the social challenges diagnostic of autism.
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18. Yingling ME, Ruther MH, Dubuque EM, Bell BA. Impact of County Sociodemographic Factors and State Policy on Geographic Access to Behavior Analysts Among Children with Autism Spectrum Disorder. Administration and policy in mental health. 2021 : 1-10.
To examine the relationship between geographic access to Board Certified Behavior Analysts (BCBAs) among children with autism spectrum disorder (ASD) and county sociodemographic factors and state policy, we integrated publicly available data from the U.S. Department of Education’s Civil Rights Data Collection, Behavior Analyst Certification Board’s certificant registry, and U.S. Census. The study sample included U.S. counties and county equivalents (e.g., parishes, independent cities) in 49 states and D.C. (N = 3040). Using GIS software, we assigned BCBAs to counties based on their residence, allocated children via school districts to counties, and generated per-capita children with ASD/BCBA ratios. We distributed counties into five categories based on these ratios : no BCBAs (reference), ≥ 31, 21-30, 11-20, > 0-10. We used a generalized logit model to conduct analyses. Highly affluent and urban counties had the highest access to BCBAs with odds ratio estimates for affluence ranging from 2.26 to 5.26. County-level poverty was positively associated with access, yet this relationship was moderated by urbanicity. Race-ethnicity and healthcare insurance coverage were negatively related to access. Other variables were not significant. Targeting non-urban and less affluent counties for provider recruitment and maintenance could most improve access to BCBAs. In addition to strategies specific to BCBAs for improving geographic access, traditional strategies used for other healthcare providers could be useful.
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19. Zeleke WA, Hughes TL, Kanyongo G. Assessing the Effectiveness of Professional Development Training on Autism and Culturally Responsive Practice for Educators and Practitioners in Ethiopia. Frontiers in psychiatry. 2020 ; 11 : 583674.
This study examines the effect of professional development training on educators’ and practitioners’ knowledge of Autism and the use of culturally responsive practices. Using a single group, pre-post design, data was gathered from 34 educators and health professionals (i.e., teachers, counselors, psychologists, therapists, therapeutic care workers, social workers, and nurses) in Ethiopia. A week-long training covering ASDs and culturally responsive evidence-based training was provided to participants. Results showed significant improvement in participants’ knowledge about ASD symptoms, nature, characteristics, as well as intervention selection. Participants’ use of culturally informed approaches, in their area of professional service, showed a high level of participants’ knowledge and low-level use of culturally responsive practices, policies, and procedures. Recommendations for addressing cultural factors impacting the diagnosis and treatment-seeking approaches to ASD in Africa are provided.