Pubmed du 28/11/21
1. Alonso-Esteban Y, López-Ramón MF, Moreno-Campos V, Navarro-Pardo E, Alcantud-Marín F. A Systematic Review on the Impact of the Social Confinement on People with Autism Spectrum Disorder and Their Caregivers during the COVID-19 Pandemic. Brain sciences. 2021; 11(11).
The COVID-19 pandemic had imposed a variety of containment measures on the general population for prolonged periods. Confinement has had, and still has, social, economic, educational, health, and psychological consequences on the entire population. OBJECTIVE: In this article, a systematic search has been performed based on studies carried out since the beginning of the pandemic, regarding the impact of these containment measures on the autism spectrum disorder (ASD) population and their caregivers. METHOD: We consulted six databases (i.e., PubMed, Medline, Embase, Scopus, Web of Science, and Science Direct) and selected ten studies that met the inclusion criteria. The chosen studies have been classified according to their theoretical focus, methodology, and target population. RESULTS: We found an increase in stress and a decrease in psychological well-being among individuals diagnosed with ASD (i.e., parents and caregivers). Additionally, in studies focused on children, youth, and adults with ASD diagnosis, the results are contradictory depending on variables such as age, ASD severity, or type of family structure. CONCLUSIONS: The results show that the consequences of quarantine and social confinement are quite contradictory and depend on variables such as age, ASD severity, and family features.
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2. Basadonne I, Cristofolini M, Mucchi I, Recla F, Bentenuto A, Zanella N. Working on Cognitive Functions in a Fully Digitalized Multisensory Interactive Room: A New Approach for Intervention in Autism Spectrum Disorders. Brain sciences. 2021; 11(11).
The feasibility of working on cognitive functions with children and adults with Autism Spectrum Disorders (ASD) inside Multisensory Interactive Rooms (MIRs) has been poorly investigated, even if sensory atypicalities are common in ASD and usual intervention rooms could represent a challenging sensory setting for patients with ASD. We hypothesized that the possibility to calibrate the sensory stimulation offered by this type of environment, able to promote a positive emotional state in patients with ASD, can consequently favor the interaction with the therapist and the motivation towards activities targeting cognitive functions. High- and low-functioning children and low-functioning adolescents/adults underwent five sessions in a fully digitalized MIR, working on sustained attention, selective attention, association, single inhibition, receptive communication, verbalization, and turn. We developed specific protocols calibrated for sensory stimulation and difficulty level based on the characteristics of the participants. We found statistically significant improvements in all functions, except association, in the children’s group. Therefore, a fully digitalized MIR seems suitable for intervention on cognitive functions in ASDs, but further investigations are needed to better address possible differences related to age and functioning level.
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3. Chaddad A, Li J, Lu Q, Li Y, Okuwobi IP, Tanougast C, Desrosiers C, Niazi T. Can Autism Be Diagnosed with Artificial Intelligence? A Narrative Review. Diagnostics (Basel, Switzerland). 2021; 11(11).
Radiomics with deep learning models have become popular in computer-aided diagnosis and have outperformed human experts on many clinical tasks. Specifically, radiomic models based on artificial intelligence (AI) are using medical data (i.e., images, molecular data, clinical variables, etc.) for predicting clinical tasks such as autism spectrum disorder (ASD). In this review, we summarized and discussed the radiomic techniques used for ASD analysis. Currently, the limited radiomic work of ASD is related to the variation of morphological features of brain thickness that is different from texture analysis. These techniques are based on imaging shape features that can be used with predictive models for predicting ASD. This review explores the progress of ASD-based radiomics with a brief description of ASD and the current non-invasive technique used to classify between ASD and healthy control (HC) subjects. With AI, new radiomic models using the deep learning techniques will be also described. To consider the texture analysis with deep CNNs, more investigations are suggested to be integrated with additional validation steps on various MRI sites.
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4. Choi K, Becerra-Culqui T, Bhakta B, Bruxvoort K, Coleman KJ. Parent intentions to vaccinate children with autism spectrum disorder against COVID-19. Journal of pediatric nursing. 2022; 63: 108-10.
PURPOSE: The purpose of this study was to investigate associations between parent vaccine confidence and intention to have their child with autism vaccinated against COVID-19. DESIGN AND METHODS: A cross-sectional, web-based survey was conducted from May to July 2021 with parents of children with autism spectrum disorder (N = 322) who were members of an integrated healthcare system in Southern California. RESULTS: Approximately 35% of parents intended to vaccinate their child against COVID-19. In adjusted models, positive vaccine beliefs-but not belief in vaccine harm, healthcare provider trust, or parent vaccination status-were associated with intention to vaccinate. CONCLUSIONS: Though parents usually trust recommendations from pediatric healthcare providers to make decisions about their child’s health, these findings suggest that relying on trusted relationships alone may not be sufficient when discussing COVID-19 vaccines and that additional education to bolster vaccine confidence may be needed. PRACTICE IMPLICATIONS: Pediatric healthcare providers should reinforce the benefits of vaccines for parents who are undecided about COVID-19 vaccines for their children and provide education and evidence-based recommendations to parents who hold erroneous vaccine beliefs about risks, benefits, and current evidence, especially those related to autism.
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5. De-La-Barrera-Aranda E, Gonzalez-Gerez JJ, Saavedra-Hernandez M, Fernandez-Bueno L, Rodriguez-Blanco C, Bernal-Utrera C. Vojta Therapy in Neuromotor Development of Pediatrics Patients with Periventricular Leukomalacia: Case Series. Medicina (Kaunas, Lithuania). 2021; 57(11).
Background and Objectives: Vojta therapy is used by physiotherapists and is based on stimulation through peripheral pressure that leads to the activation of involuntary motor response patterns, thus triggering patterns of reflex locomotion, hence also called reflex locomotion therapy. Objective: To analyze the changes produced by Vojta therapy in the evolution of infant motor development in patients with maturational delay due to periventricular leukomalacia. Materials and methods: One session of Vojta Therapy per week for eleven months, patients’ neuromotor development was evaluated through the Denver II Test and the Baleys Scale. Results: A clinically significant increase in the development of the patients is observed. Conclusions: Neuromotor development seems to generate an adequate progression in the motor area.
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6. D’Entremont B, Flanagan HE, Ungar WJ, Waddell C, Garon N, Otter JD, Leger N, Vezina F, Smith IM. Comparing the Impact of Differing Preschool Autism Interventions on Parents in Two Canadian Provinces. Journal of autism and developmental disorders. 2021.
Early Intensive Behavioural Intervention (EIBI) is effective for preschoolers with autism spectrum disorder (ASD). Parental measures are rarely included in EIBI effectiveness studies, yet parental distress and lower self-efficacy are associated with poorer child outcomes. Parents of preschoolers with ASD (N = 485) were surveyed at baseline (T1), one-year post-intervention (T2), and school entry (T3) about family distress/crisis, parental self-efficacy, and satisfaction with services in two Canadian provinces. Family distress/crisis decreased and parental self-efficacy increased from T1 to T2. Increases in self-efficacy were largely maintained at T3. Parents were highly satisfied with services. Greater satisfaction for those residing in the province utilizing a parent-coaching model suggests that parent involvement is associated with positive parent outcomes.
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7. D’Gama AM. Somatic Mosaicism and Autism Spectrum Disorder. Genes. 2021; 12(11).
Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be detected in any tissue, including clinically accessible DNA sources such as blood or saliva. In recent years, studies have also implicated de novo somatic variants in ASD risk. These somatic mutations arise postzygotically and are present in only a subset of the cells of an affected individual. Depending on the developmental time and progenitor cell in which a somatic mutation occurs, it may be detectable in some tissues and not in others. Somatic mutations detectable at relatively low sequencing coverage in clinically accessible tissues are suggested to contribute to 3-5% of simplex ASD diagnoses, and « brain limited » somatic mutations have been identified in postmortem ASD brain tissue. Somatic mutations likely represent the genetic diagnosis in a proportion of otherwise unexplained individuals with ASD, and brain limited somatic mutations can be used as markers to discover risk genes, cell types, brain regions, and cellular pathways important for ASD pathogenesis and to potentially target for therapeutics.
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8. Gasser BA, Buerki SF, Kurz J, Mohaupt MG. Hyperandrogenism? Increased 17, 20-Lyase Activity? A Metanalysis and Systematic Review of Altered Androgens in Boys and Girls with Autism. International journal of molecular sciences. 2021; 22(22).
Introduction: There is increasing evidence that steroid hormone levels and, especially, androgen levels are elevated in autism. An overactivity of 17, 20-lyase with a higher production of the testosterone precursors dehydroepiandrosterone (DHEA) and androstenedione/androstenediol seems especially present in autism. Methods: An encompassing literature analysis was performed, searching for altered androgens in children with autism and using preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. Included were all studies published before 31 March 2021 found using the following electronic databases: PubMed, Google Scholar, Cochrane Library, Scopus, and TRIP. Eight studies with boys and three studies with girls where steroid hormone measurements were performed from either plasma, urine, or saliva were found and analyzed. Analyses were performed for DHEA(-S/-C), androstenedione/androstenediol, and testosterone. Effect sizes were calculated for each parameter between mean concentrations for children with autism versus healthy controls. Results: Higher levels of androgens in autism were detected, with the majority of calculated effect sizes being larger than one. Conclusions: We found higher levels of the main testosterone precursors DHEA, androstenedione, and androstenediol, likely causing an additionally higher level of testosterone, and an increased 17, 20-lyase activity is therefore implied. Medications already used in PCOS such as metformin might be considered to treat hyperandrogenism in autism following further research.
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9. Giannotti M, Bonatti SM, Tanaka S, Kojima H, de Falco S. Parenting Stress and Social Style in Mothers and Fathers of Children with Autism Spectrum Disorder: A Cross-Cultural Investigation in Italy and Japan. Brain sciences. 2021; 11(11).
Parents of children with autism spectrum disorder (ASD) face unique challenges, which may affect parenting functioning. However, little is known about gender and cultural variations in parenting stress and styles in these families. The aims of this study were to investigate: (1a) the differences in parenting stress and (1b) social style between Italian and Japanese mothers and fathers of children with ASD; (2) the predictive role of culture, sociodemographic, and child’s characteristics on parenting stress; (3) the predictors of the social parenting style, including parenting stress dimensions. The study involved 92 Italians and 89 Japanese parents of school-age children (5-12 years) with ASD who completed the Parenting Stress Index and the Parenting Style Questionnaire. Results revealed that Japanese parents showed higher parenting stress and less engagement in social style than Italians. Across cultures, mothers used more social style than fathers. Being Japanese and having a child with greater ASD severity predicted higher levels of parenting stress. We also found that country, parent’s gender, and stress related to the dysfunctional interaction were significant predictors of parenting social style. Our findings highlight the importance of a cross-cultural approach to better understand the experiences and needs of mothers and fathers of children with ASD.
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10. Johnsson G, Bulkeley K. Practitioner and Service User Perspectives on the Rapid Shift to Teletherapy for Individuals on the Autism Spectrum as a Result of COVID-19. International journal of environmental research and public health. 2021; 18(22).
Prior to COVID-19, research into teletherapy models for individuals on the autism spectrum was slowly progressing. Following the onset of COVID-19, teletherapy became a necessity for continuity of services, however, research was still emerging for how to translate best practice autism support to the online environment. The aim of this research was to gain insight into the rapid shift to teletherapy for practitioner and service users and the implications for the broader disability sector. Survey responses were collected from 141 allied health practitioners (speech pathologists, occupational therapists, psychologists, educators, and social workers) from four Australian states and territories. A total of 806 responses were collected from service users following an individual teletherapy session. Five themes were identified during the qualitative analysis; (1) technology-love it or hate it; (2) teletherapy as a « new normal »; (3) short term pain, for long term gain; (4) the shape of service delivery has changed; (5) is teletherapy always an option? Data from the quantitative analysis provided further insights into the first two themes. While COVID-19 has brought forward significant advances in telehealth models of practice, what is needed now is to delve further into what works, for who, and in which context, and explore the potentiality, efficiencies, and scalability of a post-pandemic hybrid approach. This will inform practice guidelines and training, as well as information for service users on what to expect.
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11. Kang J, Bishayee K, Huh SO. Azoxystrobin Impairs Neuronal Migration and Induces ROS Dependent Apoptosis in Cortical Neurons. International journal of molecular sciences. 2021; 22(22).
Fungicides often cause genotoxic stress and neurodevelopmental disorders such as autism (ASD). Fungicide-azoxystrobin (AZOX) showed acute and chronic toxicity to various organisms, and remained a concern for ill effects in developing neurons. We evaluated the neurotoxicity of AZOX in developing mouse brains, and observed prenatal exposure to AZOX reduced neuronal viability, neurite outgrowth, and cortical migration process in developing brains. The 50% inhibitory concentration (IC50) of AZOX for acute (24 h) and chronic (7 days) exposures were 30 and 10 μM, respectively. Loss in viability was due to the accumulation of reactive oxygen species (ROS), and inhibited neurite outgrowth was due to the deactivation of mTORC1 kinase activity. Pretreatment with ROS scavenger- N-acetylcysteine (NAC) reserved the viability loss and forced activation of mTORC1 kinase revived the neurite outgrowth in AZOX treated neurons. Intra-amniotic injection of AZOX coupled with in utero electroporation of GFP-labelled plasmid in E15.5 mouse was performed and 20 mg/kg AZOX inhibited radial neuronal migration. Moreover, the accumulation of mitochondria was significantly reduced in AZOX treated primary neurons, indicative of mitochondrial deactivation and induction of apoptosis, which was quantified by Bcl2/Bax ratio and caspase 3 cleavage assay. This study elucidated the neurotoxicity of AZOX and explained the possible cure from it.
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12. Kazek B, Brzóska A, Paprocka J, Iwanicki T, Kozioł K, Kapinos-Gorczyca A, Likus W, Ferlewicz M, Babraj A, Buczek A, Krupka-Matuszczyk I, Emich-Widera E. Eating Behaviors of Children with Autism-Pilot Study, Part II. Nutrients. 2021; 13(11).
Autism spectrum disorder is characterized by social communication deficit and non-normative behavior. The people with autism often experience troubles with feeding. The purpose of this study was to conduct evaluation of the feeding and eating behaviors among children with autism. PATIENTS AND METHODS: The study group included 41 high-functioning autistic children. The control group consisted of 34 children without the ASD. The questionnaire was used to assess the nutritional status. RESULTS: The children with ASD fuss during mealtimes more frequently, they require entertaining and diverting their attention, they are fed by parents, and they consume their meals away from the table. The significant difference found in the use of utensils and food selectivity works to the disadvantage of the Study Group. CONCLUSIONS: The food selectivity occurs significantly more frequently among children with ASD. The feeding and eating problems should be considered on a wider scale. The cooperation of the multidisciplinary and the parents teams should be proposed in the ASD patients care.
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13. Kittana M, Ahmadani A, Al Marzooq F, Attlee A. Dietary Fat Effect on the Gut Microbiome, and Its Role in the Modulation of Gastrointestinal Disorders in Children with Autism Spectrum Disorder. Nutrients. 2021; 13(11).
Children with autism spectrum disorder (ASD) report a higher frequency and severity of gastrointestinal disorders (GID) than typically developing (TD) children. GID-associated discomfort increases feelings of anxiety and frustration, contributing to the severity of ASD. Emerging evidence supports the biological intersection of neurodevelopment and microbiome, indicating the integral contribution of GM in the development and function of the nervous system, and mental health, and disease balance. Dysbiotic GM could be a contributing factor in the pathogenesis of GID in children with ASD. High-fat diets may modulate GM through accelerated growth of bile-tolerant bacteria, altered bacterial ratios, and reduced bacterial diversity, which may increase the risk of GID. Notably, saturated fatty acids are considered to have a pronounced effect on the increase of bile-tolerant bacteria and reduction in microbial diversity. Additionally, omega-3 exerts a favorable impact on GM and gut health due to its anti-inflammatory properties. Despite inconsistencies in the data elaborated in the review, the dietary fat composition, as part of an overall dietary intervention, plays a role in modulating GID, specifically in ASD, due to the altered microbiome profile. This review emphasizes the need to conduct future experimental studies investigating the effect of diets with varying fatty acid compositions on GID-specific microbiome profiles in children with ASD.
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14. Lin CH, Chou IC, Lee IC, Hong SY. Cytomegalovirus Infection in Infancy May Increase the Risk of Subsequent Epilepsy and Autism Spectrum Disorder in Childhood. Children (Basel, Switzerland). 2021; 8(11).
Cytomegalovirus (CMV) is a ubiquitous virus, and CMV-associated diseases range from mild illness in immunologically normal hosts to life-threatening diseases in newborns and immunocompromised children. This study investigated the association between childhood CMV infection and subsequent epilepsy or neurodevelopmental disorders, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). A retrospective analysis was performed on data for 69 children with confirmed CMV infections (CMV infection group) and 292 patients with other infections (control group) between 1 January 2006 to 31 December 2012. The results indicated that the CMV infection group had a higher risk of epilepsy in comparison to the control (odds ratio (OR), 16.4; 95% CI (confidence interval), 3.32-80.7; p = 0.001). Epilepsy risk increased in younger children (age 0-2) with CMV infection when compared to the control group (OR, 32.6; 95% CI, 3.84-276; p = 0.001). The ASD risk was also determined to be higher in the CMV infection group (OR, 17.9; 95% CI, 1.96-162; p = 0.01). The ADHD risk between the groups was not significant. This study suggests that CMV infection in infancy may increase the risk of subsequent epilepsy and ASD, especially in infants younger than 2 years, but is not associated with ADHD.
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15. Linke AC, Slušná D, Kohli JS, Álvarez-Linera Prado J, Müller RA, Hinzen W. Morphometry and functional connectivity of auditory cortex in school-age children with profound language disabilities: Five comparative case studies. Brain and cognition. 2021; 155: 105822.
Many neurodevelopmental conditions imply absent or severely reduced language capacities at school age. Evidence from functional magnetic resonance imaging is highly limited. We selected a series of five cases scanned with the same fMRI paradigm and the aim of relating individual language profiles onto underlying patterns of functional connectivity (FC) across auditory language cortex: three with neurogenetic syndromes (Coffin-Siris, Landau-Kleffner, and Fragile-X), one with idiopathic intellectual disability, one with autism spectrum disorder (ASD). Compared to both a group with typical development (TD) and a verbal ASD group (total N = 110), they all showed interhemispheric FC below two standard deviations of the TD mean. Children with higher language scores showed higher intrahemispheric FC between Heschl’s gyrus and other auditory language regions, as well as an increase of FC during language stimulation compared to rest. An increase of FC in forward vs. reversed speech in the posterior and middle temporal gyri was seen across all cases. The Coffin-Siris case, the most severe, also had the most anomalous FC patterns and showed reduced myelin content, while the Landau-Kleffner case showed reduced cortical thickness. These results suggest potential for neural markers and mechanisms of severe language processing deficits under highly heterogeneous etiological conditions.
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16. Lu A, Perkowski M. Deep Learning Approach for Screening Autism Spectrum Disorder in Children with Facial Images and Analysis of Ethnoracial Factors in Model Development and Application. Brain sciences. 2021; 11(11).
Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication, and behavioral challenges. Early intervention for children with ASD can help to improve their intellectual ability and reduces autistic symptoms. Multiple clinical researches have suggested that facial phenotypic differences exist between ASD children and typically developing (TD) children. In this research, we propose a practical ASD screening solution using facial images through applying VGG16 transfer learning-based deep learning to a unique ASD dataset of clinically diagnosed children that we collected. Our model produced a 95% classification accuracy and 0.95 F1-score. The only other reported study using facial images to detect ASD was based on the Kaggle ASD Facial Image Dataset, which is an internet search-produced, low-quality, and low-fidelity dataset. Our results support the clinical findings of facial feature differences between children with ASD and TD children. The high F1-score achieved indicates that it is viable to use deep learning models to screen children with ASD. We concluded that the racial and ethnic-related factors in deep-learning based ASD screening with facial images are critical to solution viability and accuracy.
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17. Maseri M, Mamat M, Yew HT, Chekima A. The Implementation of Application Software to Improve Verbal Communication in Children with Autism Spectrum Disorder: A Review. Children (Basel, Switzerland). 2021; 8(11).
Autism-assistive apps offer therapists and caregivers new approaches for educating and assisting individuals with autism spectrum disorder (ASD), mainly in social interaction. Even though these apps are deemed effective, they are not. These autism-assistive apps are not highly customizable, which limits their usefulness. This article examined the application software that was applied to encourage verbal communication in the intervention for children with ASD. The aim was to determine the minimum requirements for a verbal communication intervention app that adequately satisfies children with ASD, caregivers, and therapists. Databases were searched, including Scopus, Springer, PubMed, Education Resources Information Centre, and Google Scholar, with the following free-text terms combining Boolean operators: autism, children, intervention, verbal communication, software, app, and technology. A total of fifteen studies were found relevant, and the following information was collected: participant characteristics, information on the devices and apps, target behaviors, intervention procedures, and intervention outcomes. The findings suggest that the autism-assistive apps effectively improve verbal communication of children with ASD. For that, the apps should be attractive and engaging to the children with ASD, able to identify the child’s capability and suggest appropriate lesson activities, as well as encompass specific learning outcomes with multilevel lesson strategy. The apps should also use systematic evidence-based intervention procedures in the activities, be able to evaluate the child’s learning progress, and allow caregivers or therapists to keep track of application usage and performance. The use of apps in intervention does provide many benefits. However, they should never replace qualified therapists. App-based interventions make home-based treatment more focused, systematic, and economical.
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18. McKinlay J, Wilson C, Hendry G, Ballantyne C. « It feels like sending your children into the lions’ den » – A qualitative investigation into parental attitudes towards ASD inclusion, and the impact of mainstream education on their child. Research in developmental disabilities. 2022; 120: 104128.
BACKGROUND: Increasing numbers of autistic children are being educated in mainstream schools. The success of inclusive education is dependent upon multiple factors, including key stakeholders (i.e., teachers and parents). Research has tended to focus on teachers’ experiences of inclusion with limited focus on parents. AIMS: The study aimed to qualitatively investigate parental attitudes and experiences of inclusive education. As such, the research question was: What are attitudes towards, and experiences of, inclusive education for parents of autistic children? METHODS AND PROCEDURE: Semi-structured interviews were conducted with 12 parents of autistic children. Data was analysed using Thematic Analysis (Braun & Clarke, 2006). OUTCOMES AND RESULTS: four themes were identified; 1) Feeling Unheard; 2) Implementation of Inclusive Strategies; 3) Social Exclusion; 4) Mental Health and Wellbeing Impact. Findings suggested that parents felt their child struggled socially in mainstream school, with such experiences negatively impacting upon their child’s wellbeing. The detrimental impacts were a result of parents believing school staff dismissed their concerns and thus appropriate strategies for their child were not always implemented. CONCLUSIONS AND IMPLICATIONS: This highlights the need for school staff and parents to work together to enhance inclusivity both academically and socially for autistic children.
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19. McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Human mutation. 2021.
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to test the clarity and accuracy of using the customized variant interpretation criteria. Multiple curators obtained the same interpretation for 78 out of the 87 variants (~90%), indicating appropriate usage of the modified guidelines the majority of times by all the curators. The classification of 13 variants changed using these criteria specifications compared to when the variants were originally curated and as present in ClinVar. Many of these changes were due to internal data shared from laboratory members however some changes were because of changes in strength of criteria. There were no two-step classification changes and only 1 clinically relevant change (Likely pathogenic to VUS). The Rett/AS VCEP hopes that these gene-specific variant curation rules and the assertions provided help clinicians, clinical laboratories, and others interpret variants in these genes but also other fully penetrant, early-onset genes associated with rare disorders.
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20. Milone R, Tancredi R, Cosenza A, Ferrari AR, Scalise R, Cioni G, Battini R. 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype. Genes. 2021; 12(11).
Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.
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21. Moerkerke M, Peeters M, de Vries L, Daniels N, Steyaert J, Alaerts K, Boets B. Endogenous Oxytocin Levels in Autism-A Meta-Analysis. Brain sciences. 2021; 11(11).
Oxytocin (OT) circuitry plays a major role in the mediation of prosocial behavior. Individuals with autism spectrum disorder (ASD) are characterized by impairments in social interaction and communication and have been suggested to display deficiencies in central OT mechanisms. The current preregistered meta-analysis evaluated potential group differences in endogenous OT levels between individuals with ASD and neurotypical (NT) controls. We included 18 studies comprising a total of 1422 participants. We found that endogenous OT levels are lower in children with ASD as compared to NT controls (n = 1123; g = -0.60; p = 0.006), but this effect seems to disappear in adolescent (n = 152; g = -0.20; p = 0.53) and adult populations (n = 147; g = 0.27; p = 0.45). Secondly, while no significant subgroup differences were found in regard to sex, the group difference in OT levels of individuals with versus without ASD seems to be only present in the studies with male participants (n = 814; g = -0.44; p = 0.08) and not female participants (n = 192; g = 0.11; p = 0.47). More research that employs more homogeneous methods is necessary to investigate potential developmental changes in endogenous OT levels, both in typical and atypical development, and to explore the possible use of OT level measurement as a diagnostic marker of ASD.
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22. Monfared RV, Alhassen W, Truong TM, Gonzales MAM, Vachirakorntong V, Chen S, Baldi P, Civelli O, Alachkar A. Transcriptome Profiling of Dysregulated GPCRs Reveals Overlapping Patterns across Psychiatric Disorders and Age-Disease Interactions. Cells. 2021; 10(11).
G-protein-coupled receptors (GPCRs) play an integral role in the neurobiology of psychiatric disorders. Almost all neurotransmitters involved in psychiatric disorders act through GPCRs, and GPCRs are the most common targets of therapeutic drugs currently used in the treatment of psychiatric disorders. However, the roles of GPCRs in the etiology and pathophysiology of psychiatric disorders are not fully understood. Using publically available datasets, we performed a comprehensive analysis of the transcriptomic signatures of G-protein-linked signaling across the major psychiatric disorders: autism spectrum disorder (ASD), schizophrenia (SCZ), bipolar disorder (BP), and major depressive disorder (MDD). We also used the BrainSpan transcriptomic dataset of the developing human brain to examine whether GPCRs that exhibit chronological age-associated expressions have a higher tendency to be dysregulated in psychiatric disorders than age-independent GPCRs. We found that most GPCR genes were differentially expressed in the four disorders and that the GPCR superfamily as a gene cluster was overrepresented in the four disorders. We also identified a greater amplitude of gene expression changes in GPCRs than other gene families in the four psychiatric disorders. Further, dysregulated GPCRs overlapped across the four psychiatric disorders, with SCZ exhibiting the highest overlap with the three other disorders. Finally, the results revealed a greater tendency of age-associated GPCRs to be dysregulated in ASD than random GPCRs. Our results substantiate the central role of GPCR signaling pathways in the etiology and pathophysiology of psychiatric disorders. Furthermore, our study suggests that common GPCRs’ signaling may mediate distinct phenotypic presentations across psychiatric disorders. Consequently, targeting these GPCRs could serve as a common therapeutic strategy to treat specific clinical symptoms across psychiatric disorders.
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23. Nadeem MS, Hosawi S, Alshehri S, Ghoneim MM, Imam SS, Murtaza BN, Kazmi I. Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer’s Disease. Biomolecules. 2021; 11(11).
Autism spectrum disorder (ASD) and Alzheimer’s disease (AD) are neurodevelopmental and neurodegenerative disorders affecting two opposite ends of life span, i.e., childhood and old age. Both disorders pose a cumulative threat to human health, with the rate of incidences increasing considerably worldwide. In the context of recent developments, we aimed to review correlated symptoms and genetics, and overlapping aspects in the mechanisms of the pathogenesis of ASD and AD. Dementia, insomnia, and weak neuromuscular interaction, as well as communicative and cognitive impairments, are shared symptoms. A number of genes and proteins linked with both disorders have been tabulated, including MECP2, ADNP, SCN2A, NLGN, SHANK, PTEN, RELN, and FMR1. Theories about the role of neuron development, processing, connectivity, and levels of neurotransmitters in both disorders have been discussed. Based on the recent literature, the roles of FMRP (Fragile X mental retardation protein), hnRNPC (heterogeneous ribonucleoprotein-C), IRP (Iron regulatory proteins), miRNAs (MicroRNAs), and α-, β0, and γ-secretases in the posttranscriptional regulation of cellular synthesis and processing of APP (amyloid-β precursor protein) have been elaborated to describe the parallel and overlapping routes and mechanisms of ASD and AD pathogenesis. However, the interactive role of genetic and environmental factors, oxidative and metal ion stress, mutations in the associated genes, and alterations in the related cellular pathways in the development of ASD and AD needs further investigation.
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24. Papaioannou A, Kalantzi E, Papageorgiou CC, Korombili K, Bokou A, Pehlivanidis A, Papageorgiou CC, Papaioannou G. Differences in Performance of ASD and ADHD Subjects Facing Cognitive Loads in an Innovative Reasoning Experiment. Brain sciences. 2021; 11(11).
We aim to investigate whether EEG dynamics differ in adults with ASD (Autism Spectrum Disorders) and ADHD (attention-deficit/hyperactivity disorder) compared with healthy subjects during the performance of an innovative cognitive task, Aristotle’s valid and invalid syllogisms, and how these differences correlate with brain regions and behavioral data for each subject. We recorded EEGs from 14 scalp electrodes (channels) in 21 adults with ADHD, 21 with ASD, and 21 healthy, normal subjects. The subjects were exposed in a set of innovative cognitive tasks (inducing varying cognitive loads), Aristotle’s two types of syllogism mentioned above. A set of 39 questions were given to participants related to valid-invalid syllogisms as well as a separate set of questionnaires, in order to collect a number of demographic and behavioral data, with the aim of detecting shared information with values of a feature extracted from EEG, the multiscale entropy (MSE), in the 14 channels (‘brain regions’). MSE, a nonlinear information-theoretic measure of complexity, was computed to extract a feature that quantifies the complexity of the EEG. Behavior-Partial Least Squares Correlation, PLSC, is the method to detect the correlation between two sets of data, brain, and behavioral measures. -PLSC, a variant of PLSC, was applied to build a functional connectivity of the brain regions involved in the reasoning tasks. Graph-theoretic measures were used to quantify the complexity of the functional networks. Based on the results of the analysis described in this work, a mixed 14 × 2 × 3 ANOVA showed significant main effects of group factor and brain region* syllogism factor, as well as a significant brain region* group interaction. There are significant differences between the means of MSE (complexity) values at the 14 channels of the members of the ‘pathological’ groups of participants, i.e., between ASD and ADHD, while the difference in means of MSE between both ASD and ADHD and that of the control group is not significant. In conclusion, the valid-invalid type of syllogism generates significantly different complexity values, MSE, between ASD and ADHD. The complexity of activated brain regions of ASD participants increased significantly when switching from a valid to an invalid syllogism, indicating the need for more resources to ‘face’ the task escalating difficulty in ASD subjects. This increase is not so evident in both ADHD and control. Statistically significant differences were found also in the behavioral response of ASD and ADHD, compared with those of control subjects, based on the principal brain and behavior saliences extracted by PLSC. Specifically, two behavioral measures, the emotional state and the degree of confidence of participants in answering questions in Aristotle’s valid-invalid syllogisms, and one demographic variable, age, statistically and significantly discriminate the three groups’ ASD. The seed-PLC generated functional connectivity networks for ASD, ADHD, and control, were ‘projected’ on the regions of the Default Mode Network (DMN), the ‘reference’ connectivity, of which the structural changes were found significant in distinguishing the three groups. The contribution of this work lies in the examination of the relationship between brain activity and behavioral responses of healthy and ‘pathological’ participants in the case of cognitive reasoning of the type of Aristotle’s valid and invalid syllogisms, using PLSC, a machine learning approach combined with MSE, a nonlinear method of extracting a feature based on EEGs that captures a broad spectrum of EEGs linear and nonlinear characteristics. The results seem promising in adopting this type of reasoning, in the future, after further enhancements and experimental tests, as a supplementary instrument towards examining the differences in brain activity and behavioral responses of ASD and ADHD patients. The application of the combination of these two methods, after further elaboration and testing as new and complementary to the existing ones, may be considered as a tool of analysis in helping detecting more effectively such types of disorders.
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25. Park EY. Validity of the Friedrich Short Form of the Questionnaire on Resources and Stress in Parents of Individuals with Autism Spectrum Disorder. International journal of environmental research and public health. 2021; 18(22).
There is insufficient knowledge about the psychometric properties of the Friedrich short form of the Questionnaire on Resources and Stress (QRS-F) used to measure the caregiving burden of caregivers of individuals with autism spectrum disorder (ASD). The present study, therefore, aimed to confirm the validity of the QRS-F. The data selected using the systematic sampling method were analyzed to verify the factor structure of the QRS-F on parents of individuals with ASD. Exploratory and confirmatory factor analyses were employed to confirm the validity and the factor structure of the scale. The Pearson correlation coefficient was calculated to verify the relation with other measures. The original factor model was not appropriate to assess the caregiving burden on parents of individuals with ASD because the models did not show adequate fit indices. The evaluation of results based on a total score was explored, which demonstrated the expected association between depression severity and caregiving time. Overall, this study supports the use of the QRS-F for measuring the caregiving burden of parents of individuals with ASD by comparing the total score with other related variables.
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26. Petcu SD, Zhang D, Li YF. Students with Autism Spectrum Disorders and Their First-Year College Experiences. International journal of environmental research and public health. 2021; 18(22).
Using data from the 2019 CIRP Freshman Survey and the Your First College Year (YFCY) from the Higher Education Research Institute at UCLA, this study explores the differences between the characteristics and behaviors of the first-year students with autism spectrum disorders (17) and those of students with learning disabilities (102). The findings indicate that the characteristics of these two groups of first-year college students were similar except for gender, ethnicity, first college generation, and parents’ income. Compared with first-year college students with LD, students with ASD were less likely to engage in risk-taking behaviors, use health services and the writing center.
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27. Raspini B, Prosperi M, Guiducci L, Santocchi E, Tancredi R, Calderoni S, Morales MA, Morelli M, Simione M, Fiechtner L, Muratori F, Cena H. Dietary Patterns and Weight Status in Italian Preschoolers with Autism Spectrum Disorder and Typically Developing Children. Nutrients. 2021; 13(11).
Atypical eating habits are more common in children with autism spectrum disorders (ASD) than typically developing (TD) peers. Feeding problems may lead to the double burden of specific nutrient deficiencies and excessive weight gain, with a consequent increase in obesity prevalence. The dietary intake of Italian preschoolers with ASD compared to their TD peers and the impact of their dietary choices on their weight status and relationship to food selectivity (FS) were investigated. Dietary patterns and their associations with body mass index (BMI) were evaluated in 65 children with ASD and 82 peers with TD aged 1.3-6.4 years. Eating habits were assessed with a modified version of a parent-rated semi-quantitative Food Frequency Questionnaire. Moreover, the prevalence of FS and possible links with dietary patterns and BMI were investigated in the ASD group. Children with ASD consumed significantly higher amounts of simple sugars, processed and ultra-processed carbohydrates, both low- and high-fat animal proteins, and lower amounts of vegetables and fruits compared to peers with TD. The obesity rate was 1.5% in children with TD and more than fourfold (6.2%) in children with ASD, although the difference between groups was not statistically significant. FS was significantly more frequent in children with ASD than in peers with TD. Children with ASD and FS showed significantly lower annual intakes of vegetable proteins and fiber (considered essential nutrients for a healthy diet) than children with ASD without FS. Our results showed that children with ASD showed different dietary habits than those with TD, with the higher consumption of energy-dense foods and lower amounts of food-sourced fibers, which could place them at increased risk to develop overweight, obesity, and micronutrient deficiencies later in life.
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28. Reche-Olmedo L, Torres-Collado L, Compañ-Gabucio LM, Garcia-de-la-Hera M. The Role of Occupational Therapy in Managing Food Selectivity of Children with Autism Spectrum Disorder: A Scoping Review. Children (Basel, Switzerland). 2021; 8(11).
Food selectivity is common in children with autism spectrum disorder (ASD). It can be defined as the unwillingness to eat common or new foods, resulting in a lack of variety in the diet or limited food consumption for multiple reasons, such as inflexibility or sensory alterations. We conducted a peer scoping review to describe the interventions that are carried out from occupational therapy (OT) in children with ASD with food selectivity. Two authors independently searched the databases PubMed, Scopus, Web of Science, and EMBASE, as well as the OT journals indexed in Journal Citation Reports. Articles exploring OT interventions in children (≤12 years) with ASD and food selectivity, published in Spanish or English, with experimental design, and with full text available were included. Of the 1445 articles identified, 8 articles met the inclusion criteria. Three main intervention categories were identified: sensory-behavioral, family focused, and other interventions. Most of the interventions from OT were aimed at treating sensory-behavioral aspects. Only three articles described interventions led exclusively by occupational therapists, and the rest were led by a multidisciplinary team. Finally, although these interventions are not exclusive to OT, occupational therapists can participate together with other professionals as an essential component in the treatment of food selectivity in children with ASD.
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29. Riva V, Riboldi EM, Urbani B, Molteni M, Villa L. A Pilot Study Evaluating the Effects of Early Intervention for Italian Siblings of Children with Autism Spectrum Disorder. Brain sciences. 2021; 11(11).
Autism spectrum disorder (ASD) is a high-cost/high-burden problem. Early intervention may prevent development of the disorder, improving child outcomes and reducing long-term consequences. However, few studies have investigated the role of early intervention in children younger than two years. This study aims to examine the effect of early intervention in 18-month-old high-risk siblings of children with ASD (HR-ASD) with clinical signs of autism. The intervention is based on the principles of Applied Behavior Analysis and focuses on the development of early precursors to social and communicative competence (joint attention and imitation behaviors). After controlling for baseline differences, two comparison HR-ASD groups were included: 15 HR-ASD toddlers receiving behavioral intervention for 3 h per week for 5 months (INT+) and 15 HR-ASD toddlers who were only clinically monitored from age 18 months (INT-). Changes in social communication, restricted/repetitive behaviors, and language were assessed using standardized measures at pre- (T0) and post-intervention (T1). From T0 to T1, the INT+ group showed significant improvements in communication, social interaction, and language compared to INT- group. There was no effect on restricted/repetitive behaviors. Our findings highlighted the importance of early detection/intervention in autism and supported a positive impact of targeted interventions to improve outcomes in at-risk children.
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30. Rocchetti M, Bassotti A, Corradi J, Damiani S, Pasta G, Annunziata S, Guerrieri V, Mosconi M, Gentilini D, Brondino N. Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers-Danlos Syndrome, an Internet-Based Survey in Italy. Healthcare (Basel, Switzerland). 2021; 9(11).
BACKGROUND: Ehlers-Danlos syndromes (EDS) have been associated with psychological distress, comorbid psychiatric disorders, and worsening in quality of life (QoL). Among the neurodevelopmental disorders, autism spectrum disorders (ASD) have shown the highest rates of co-occurrence with EDS. The reasons for these associations are unknown and a possible role of pain in increasing the risk of psychiatric disorders in EDS has been suggested. However, a detailed picture of an Italian EDS sample is still lacking. METHODS: We conducted a web-based survey in a third level center for the diagnosis of EDS in northern Italy, to investigate psychological distress, QoL, and the presence of autistic traits. Furthermore, we correlated the psychometric data with some clinical variables. RESULTS: We observed a high rate of psychological distress with 91% of the responders at high risk of common mental disorders, low QoL, and high prevalence of autistic traits in EDS patients. Specifically, patients lacking a specific genetic test, diagnosed as suspects of EDS appeared to be at greater risk and reported worse psychological QoL. Pain was significantly associated with both psychological distress and worse QoL. CONCLUSIONS: Our findings support the need of further research and of a multi-disciplinary approach to EDS including psychological and psychiatric liaison.
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31. Rossignol DA, Frye RE. Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. Journal of personalized medicine. 2021; 11(11).
The cerebral folate receptor alpha (FRα) transports 5-methyltetrahydrofolate (5-MTHF) into the brain; low 5-MTHF in the brain causes cerebral folate deficiency (CFD). CFD has been associated with autism spectrum disorders (ASD) and is treated with d,l-leucovorin (folinic acid). One cause of CFD is an autoantibody that interferes with the function of the FRα. FRα autoantibodies (FRAAs) have been reported in ASD. A systematic review was performed to identify studies reporting FRAAs in association with ASD, or the use of d,l-leucovorin in the treatment of ASD. A meta-analysis examined the prevalence of FRAAs in ASD. The pooled prevalence of ASD in individuals with CFD was 44%, while the pooled prevalence of CFD in ASD was 38% (with a significant variation across studies due to heterogeneity). The etiology of CFD in ASD was attributed to FRAAs in 83% of the cases (with consistency across studies) and mitochondrial dysfunction in 43%. A significant inverse correlation was found between higher FRAA serum titers and lower 5-MTHF CSF concentrations in two studies. The prevalence of FRAA in ASD was 71% without significant variation across studies. Children with ASD were 19.03-fold more likely to be positive for a FRAA compared to typically developing children without an ASD sibling. For individuals with ASD and CFD, meta-analysis also found improvements with d,l-leucovorin in overall ASD symptoms (67%), irritability (58%), ataxia (88%), pyramidal signs (76%), movement disorders (47%), and epilepsy (75%). Twenty-one studies (including four placebo-controlled and three prospective, controlled) treated individuals with ASD using d,l-leucovorin. d,l-Leucovorin was found to significantly improve communication with medium-to-large effect sizes and have a positive effect on core ASD symptoms and associated behaviors (attention and stereotypy) in individual studies with large effect sizes. Significant adverse effects across studies were generally mild but the most common were aggression (9.5%), excitement or agitation (11.7%), headache (4.9%), insomnia (8.5%), and increased tantrums (6.2%). Taken together, d,l-leucovorin is associated with improvements in core and associated symptoms of ASD and appears safe and generally well-tolerated, with the strongest evidence coming from the blinded, placebo-controlled studies. Further studies would be helpful to confirm and expand on these findings.
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32. Sakimoto Y, Oo PM, Goshima M, Kanehisa I, Tsukada Y, Mitsushima D. Significance of GABA(A) Receptor for Cognitive Function and Hippocampal Pathology. International journal of molecular sciences. 2021; 22(22).
The hippocampus is a primary area for contextual memory, known to process spatiotemporal information within a specific episode. Long-term strengthening of glutamatergic transmission is a mechanism of contextual learning in the dorsal cornu ammonis 1 (CA1) area of the hippocampus. CA1-specific immobilization or blockade of α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) receptor delivery can impair learning performance, indicating a causal relationship between learning and receptor delivery into the synapse. Moreover, contextual learning also strengthens GABA(A) (gamma-aminobutyric acid) receptor-mediated inhibitory synapses onto CA1 neurons. Recently we revealed that strengthening of GABA(A) receptor-mediated inhibitory synapses preceded excitatory synaptic plasticity after contextual learning, resulting in a reduced synaptic excitatory/inhibitory (E/I) input balance that returned to pretraining levels within 10 min. The faster plasticity at inhibitory synapses may allow encoding a contextual memory and prevent cognitive dysfunction in various hippocampal pathologies. In this review, we focus on the dynamic changes of GABA(A) receptor mediated-synaptic currents after contextual learning and the intracellular mechanism underlying rapid inhibitory synaptic plasticity. In addition, we discuss that several pathologies, such as Alzheimer’s disease, autism spectrum disorders and epilepsy are characterized by alterations in GABA(A) receptor trafficking, synaptic E/I imbalance and neuronal excitability.
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33. Schjølberg S, Shic F, Volkmar FR, Nordahl-Hansen A, Stenberg N, Torske T, Larsen K, Riley K, Sukhodolsky DG, Leckman JF, Chawarska K, Øien RA. What are we optimizing for in autism screening? Examination of algorithmic changes in the M-CHAT. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 296-304.
The present study objectives were to examine the performance of the new M-CHAT-R algorithm to the original M-CHAT algorithm. The main purpose was to examine if the algorithmic changes increase identification of children later diagnosed with ASD, and to examine if there is a trade-off when changing algorithms. We included 54,463 screened cases from the Norwegian Mother and Child Cohort Study. Children were screened using the 23 items of the M-CHAT at 18 months. Further, the performance of the M-CHAT-R algorithm was compared to the M-CHAT algorithm on the 23-items. In total, 337 individuals were later diagnosed with ASD. Using M-CHAT-R algorithm decreased the number of correctly identified ASD children by 12 compared to M-CHAT, with no children with ASD screening negative on the M-CHAT criteria subsequently screening positive utilizing the M-CHAT-R algorithm. A nonparametric McNemar’s test determined a statistically significant difference in identifying ASD utilizing the M-CHAT-R algorithm. The present study examined the application of 20-item MCHAT-R scoring criterion to the 23-item MCHAT. We found that this resulted in decreased sensitivity and increased specificity for identifying children with ASD, which is a trade-off that needs further investigation in terms of cost-effectiveness. However, further research is needed to optimize screening for ASD in the early developmental period to increase identification of false negatives.
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34. Stankovic M, Stojanovic A, Jelena S, Stankovic M, Shih A, Stankovic S. The Serbian experience of challenges of parenting children with autism spectrum disorders during the COVID-19 pandemic and the state of emergency with lockdown. European child & adolescent psychiatry. 2022; 31(4): 693-8.
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35. Tarasi L, Magosso E, Ricci G, Ursino M, Romei V. The Directionality of Fronto-Posterior Brain Connectivity Is Associated with the Degree of Individual Autistic Traits. Brain sciences. 2021; 11(11).
Altered patterns of brain connectivity have been found in autism spectrum disorder (ASD) and associated with specific symptoms and behavioral features. Growing evidence suggests that the autistic peculiarities are not confined to the clinical population but extend along a continuum between healthy and maladaptive conditions. The aim of this study was to investigate whether a differentiated connectivity pattern could also be tracked along the continuum of autistic traits in a non-clinical population. A Granger causality analysis conducted on a resting-state EEG recording showed that connectivity along the posterior-frontal gradient is sensitive to the magnitude of individual autistic traits and mostly conveyed through fast oscillatory activity. Specifically, participants with higher autistic traits were characterized by a prevalence of ascending connections starting from posterior regions ramping the cortical hierarchy. These findings point to the presence of a tendency within the neural mapping of individuals with higher autistic features in conveying proportionally more bottom-up information. This pattern of findings mimics those found in clinical forms of autism, supporting the idea of a neurobiological continuum between autistic traits and ASD.
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36. Tekendo-Ngongang C, Grochowsky A, Solomon BD, Yano ST. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. Genes. 2021; 12(11).
FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogenicity of FMR1 coding, noncoding, and copy number variants published to date. There is a spectrum of disease-causing FMR1 variation, with clinical and functional evidence supporting pathogenicity of five splicing, five missense, one in-frame deletion, one nonsense, and four frameshift variants. In addition, FMR1 deletions occur in both mosaic full mutation patients and as constitutional pathogenic alleles. De novo deletions arise not only from full mutation alleles but also alleles with normal-sized CGG repeats in several patients, suggesting that the CGG repeat region may be prone to genomic instability even in the absence of repeat expansion. We conclude that clinical tests for potentially FMR1-related indications such as intellectual disability should include methods capable of detecting small coding, noncoding, and copy number variants.
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37. Torres EB. Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its « Epidemic Rates ». Journal of personalized medicine. 2021; 11(11).
In the last decade, Autism has broadened and often shifted its diagnostics criteria, allowing several neuropsychiatric and neurological disorders of known etiology. This has resulted in a highly heterogeneous spectrum with apparent exponential rates in prevalence. I ask if it is possible to leverage existing genetic information about those disorders making up Autism today and use it to stratify this spectrum. To that end, I combine genes linked to Autism in the SFARI database and genomic information from the DisGeNET portal on 25 diseases, inclusive of non-neurological ones. I use the GTEx data on genes’ expression on 54 human tissues and ask if there are overlapping genes across those associated to these diseases and those from SFARI-Autism. I find a compact set of genes across all brain-disorders which express highly in tissues fundamental for somatic-sensory-motor function, self-regulation, memory, and cognition. Then, I offer a new stratification that provides a distance-based orderly clustering into possible Autism subtypes, amenable to design personalized targeted therapies within the framework of Precision Medicine. I conclude that viewing Autism through this physiological (Precision) lens, rather than viewing it exclusively from a psychological behavioral construct, may make it a more manageable condition and dispel the Autism epidemic myth.
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38. Vallefuoco E, Purpura G, Gison G, Bonifacio A, Tagliabue L, Broggi F, Scuccimarra G, Pepino A, Nacinovich R. A Multidisciplinary Telerehabilitation Approach for Supporting Social Interaction in Autism Spectrum Disorder Families: An Italian Digital Platform in Response to COVID-19. Brain sciences. 2021; 11(11).
Due to its complexity and high variability in symptomology, autism spectrum disorder (ASD) requires a coordinated and multidisciplinary intervention to better support the different programs over time and to promote social interactions in all contexts of life. Telemedicine can offer a valuable contribution in this regard, providing low-cost and portable applications. In this paper, we presented an Italian project, SUPER, which aimed to foster collaboration and information sharing between ASD families, health services, and schools. SUPER provided a digital platform with several tools that were useful both to enhance general and specific ASD knowledge and to promote personalized programs for children with ASD. We conducted a preliminary user test for the platform with 30 participants (18 therapists and 12 parents of children with ASD) using the system usability scale (SUS). The total mean SUS score (89.2) showed that SUPER is an excellent, usable system. Moreover, we extracted the usability and learnability mean components from the SUS scores, which were 96.1 and 61.7, respectively. Our preliminary results indicate that SUPER is a very user-friendly application and its innovative telemedicine approach could be ahelpful communication and collaboration tool among the different contexts of care for children with ASD.
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39. Vasic V, Jones MSO, Haslinger D, Knaus LS, Schmeisser MJ, Novarino G, Chiocchetti AG. Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment. Genes. 2021; 12(11).
Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin abnormalities, heart disease and facial dysmorphisms. Less well studied are the neuropsychiatric symptoms such as ASD. Here, we assess the relevance of these signalopathies in ASD reviewing genetic, human cell model, rodent studies and clinical trials. We conclude that signalopathies have an increased liability for ASD and that, in particular, ASD individuals with dysmorphic features and intellectual disability (ID) have a higher chance for disruptive mutations in RAS- and mTOR-related genes. Studies on rodent and human cell models confirm aberrant neuronal development as the underlying pathology. Human studies further suggest that multiple hits are necessary to induce the respective phenotypes. Recent clinical trials do only report improvements for comorbid conditions such as epilepsy or cancer but not for behavioral aspects. Animal models show that treatment during early development can rescue behavioral phenotypes. Taken together, we suggest investigating the differential roles of mTOR and RAS signaling in both human and rodent models, and to test drug treatment both during and after neuronal development in the available model systems.
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40. Weld-Blundell I, Shields M, Devine A, Dickinson H, Kavanagh A, Marck C. Vocational Interventions to Improve Employment Participation of People with Psychosocial Disability, Autism and/or Intellectual Disability: A Systematic Review. International journal of environmental research and public health. 2021; 18(22).
Objective: To systematically review interventions aimed at improving employment participation of people with psychosocial disability, autism, and intellectual disability. Methods: We searched MEDLINE, Embase, PsycINFO, Web of Science, Scopus, CINAHL, ERIC, and ERC for studies published from 2010 to July 2020. Randomized controlled trials (RCTs) of interventions aimed at increasing participation in open/competitive or non-competitive employment were eligible for inclusion. We included studies with adults with psychosocial disability autism and/or intellectual disability. Risk of bias was assessed using the Cochrane Collaboration Risk of Bias II Tool. Data were qualitatively synthesized. Our review was registered with PROSPERO (CRD42020219192). Results: We included 26 RCTs: 23 targeted people with psychosocial disabilities (n = 2465), 3 included people with autism (n = 214), and none included people with intellectual disability. Risk of bias was high in 8 studies, moderate for 18, and low for none. There was evidence for a beneficial effect of Individual Placement and Support compared to control conditions in 10/11 studies. Among young adults with autism, there was some evidence for the benefit of Project SEARCH and ASD supports on open employment. Discussion: Gaps in the availability of high-quality evidence remain, undermining comparability and investment decisions in vocational interventions. Future studies should focus on improving quality and consistent measurement, especially for interventions targeting people with autism and/or intellectual disability.
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41. Weuring W, Geerligs J, Koeleman BPC. Gene Therapies for Monogenic Autism Spectrum Disorders. Genes. 2021; 12(11).
Novel genome editing and transient gene therapies have been developed the past ten years, resulting in the first in-human clinical trials for monogenic disorders. Syndromic autism spectrum disorders can be caused by mutations in a single gene. Given the monogenic aspect and severity of syndromic ASD, it is an ideal candidate for gene therapies. Here, we selected 11 monogenic ASD syndromes, validated by animal models, and reviewed current gene therapies for each syndrome. Given the wide variety and novelty of some forms of gene therapy, the best possible option must be decided based on the gene and mutation.
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42. Wu X, Lin F, Sun W, Zhang T, Sun H, Li J. Relationship between Short-Range and Homotopic Long-Range Resting State Functional Connectivity in Temporal Lobes in Autism Spectrum Disorder. Brain sciences. 2021; 11(11).
To investigate the relationship between short-range and homotopic long-range resting state functional connectivity (RSFC) in children with autism spectrum disorder (ASD) and typically developing (TD) children, we analyzed functional near-infrared spectroscopy (fNIRS) RSFC in 25 children with ASD and 22 age-matched TD children. The resting state fNIRS signals, including spontaneous fluctuations in the oxygenated hemoglobin (HbO(2)) and deoxygenated hemoglobin (Hb) concentrations, were recorded from the bilateral temporal lobes. We found that (1) there was no difference in the short-range RSFC between the left and right hemisphere in either ASD or TD group; (2) both the short-range and homotopic long-range RSFC were weaker in the ASD than TD group; and (3) the short-range RSFC was stronger than the homotopic long-range RSFC in the ASD group, whereas no such difference was observed in the TD group. These observations might be helpful for a better understanding of the underlying cortical mechanism in ASD.
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43. Zhao Z, Tang H, Alviar C, Kello CT, Zhang X, Hu X, Qu X, Lu J. Excessive and less complex body movement in children with autism during face-to-face conversation: An objective approach to behavioral quantification. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 305-16.
The majority of existing studies investigating characteristics of overt social behavior in individuals with autism spectrum disorder (ASD) relied on informants’ evaluation through questionnaires and behavioral coding techniques. As a novelty, this study aimed to quantify the complex movements produced during social interactions in order to test differences in ASD movement dynamics and their convergence, or lack thereof, during social interactions. Twenty children with ASD and twenty-three children with typical development (TD) were videotaped while engaged in a face-to-face conversation with an interviewer. An image differencing technique was utilized to extract the movement time series. Spectral analyses were conducted to quantify the average power of movement, and the fractal scaling of movement. The degree of complexity matching was calculated to capture the level of behavioral coordination between the interviewer and children. Results demonstrated that the average power was significantly higher (p < 0.01), and the fractal scaling was steeper (p < 0.05) in children with ASD, suggesting excessive and less complex movement as compared to the TD peers. Complexity matching occurred between children and interviewers, but there was no reliable difference in the strength of matching between the ASD and TD children. Descriptive trends in the interviewer's behavior suggest that her movements adapted to match both ASD and TD movements equally well. The findings of our study might shed light on seeking novel behavioral markers of ASD, and on developing automatic ASD screening techniques during daily social interactions. LAY SUMMARY: By implementing an objective behavioral quantifying technique, our study demonstrated that children with autism had more body movement during face-to-face conversation, and they moved in a less complex way. The current diagnosis of autism heavily relies on doctor's experiences. These findings suggest a potential that autism might be automatically screened during daily social interactions.
