1. Aguilar-Parra JM, Megias MM, Trigueros R, Mercader I, Fernández-Jiménez C, Fernández-Campoy JM. Testing the Structural Validity of the Self-Stigma Scale in Relatives of People with Autism in the Spanish Context. International journal of environmental research and public health. 2021; 18(14).

Sometimes, relatives of children with autism experience feelings of guilt, abandonment and devaluation, as they tend to see themselves as the cause of their children’s illness. This causes social isolation and psychological discomfort. However, there are no scales that assess self-stigma. Therefore, the aim of the study is to show evidence of the validity and reliability of the Self-Stigma Scale in Relatives of People with Mental Illness in the Spanish context in relation to autism. A total of 287 progenitors participated in the study. For the validation and adaptation process, three confirmatory factor analyses, analysis of invariance across gender, reliability analysis and temporal stability, were carried out. The results revealed that the factor structure of the questionnaire was adequate, showing adequate levels of reliability.

Lien vers le texte intégral (Open Access ou abonnement)

2. Gentil-Gutiérrez A, Cuesta-Gómez JL, Rodríguez-Fernández P, González-Bernal JJ. Implication of the Sensory Environment in Children with Autism Spectrum Disorder: Perspectives from School. International journal of environmental research and public health. 2021; 18(14).

(1) Background: Children with Autism Spectrum Disorder (ASD) frequently have difficulties in processing sensory information, which is a limitation when participating in different contexts, such as school. The objective of the present study was to compare the sensory processing characteristics of children with ASD in the natural context of school through the perception of professionals in the field of education, in comparison with neurodevelopmental children (2) Methods: A cross-sectional descriptive study as conducted with study population consisting of children between three and ten years old, 36 of whom were diagnosed with ASD and attended the Autismo Burgos association; the remaining 24 had neurotypical development. The degree of response of the children to sensory stimuli at school was evaluated using the Sensory Profile-2 (SP-2) questionnaire in its school version, answered by the teachers. (3) Results: Statistically significant differences were found in sensory processing patterns (p = 0.001), in sensory systems (p = 0.001) and in school factors (p = 0.001). Children with ASD who obtained worse results. (4) Conclusions: Children with ASD are prone to present sensory alterations in different contexts, giving nonadapted behavioral and learning responses.

Lien vers le texte intégral (Open Access ou abonnement)

3. Jayaprakash P, Isaev D, Shabbir W, Lorke DE, Sadek B, Oz M. Curcumin Potentiates α7 Nicotinic Acetylcholine Receptors and Alleviates Autistic-Like Social Deficits and Brain Oxidative Stress Status in Mice. International journal of molecular sciences. 2021; 22(14).

Autistic spectrum disorder (ASD) refers to a group of neurodevelopmental disorders characterized by impaired social interaction and cognitive deficit, restricted repetitive behaviors, altered immune responses, and imbalanced oxidative stress status. In recent years, there has been a growing interest in studying the role of nicotinic acetylcholine receptors (nAChRs), specifically α7-nAChRs, in the CNS. Influence of agonists for α7-nAChRs on the cognitive behavior, learning, and memory formation has been demonstrated in neuro-pathological condition such as ASD and attention-deficit hyperactivity disorder (ADHD). Curcumin (CUR), the active compound of the spice turmeric, has been shown to act as a positive allosteric modulator of α7-nAChRs. Here we hypothesize that CUR, acting through α7-nAChRs, influences the neuropathology of ASD. In patch clamp studies, fast inward currents activated by choline, a selective agonist of α7-nAChRs, were significantly potentiated by CUR. Moreover, choline induced enhancement of spontaneous inhibitory postsynaptic currents was markedly increased in the presence of CUR. Furthermore, CUR (25, 50, and 100 mg/kg, i.p.) ameliorated dose-dependent social deficits without affecting locomotor activity or anxiety-like behaviors of tested male Black and Tan BRachyury (BTBR) mice. In addition, CUR (50 and 100 mg/kg, i.p.) mitigated oxidative stress status by restoring the decreased levels of superoxide dismutase (SOD) and catalase (CAT) in the hippocampus and the cerebellum of treated mice. Collectively, the observed results indicate that CUR potentiates α7-nAChRs in native central nervous system neurons, mitigates disturbed oxidative stress, and alleviates ASD-like features in BTBR mice used as an idiopathic rodent model of ASD, and may represent a promising novel pharmacological strategy for ASD treatment.

Lien vers le texte intégral (Open Access ou abonnement)

4. Kojovic N, Natraj S, Mohanty SP, Maillart T, Schaer M. Using 2D video-based pose estimation for automated prediction of autism spectrum disorders in young children. Scientific reports. 2021; 11(1): 15069.

Clinical research in autism has recently witnessed promising digital phenotyping results, mainly focused on single feature extraction, such as gaze, head turn on name-calling or visual tracking of the moving object. The main drawback of these studies is the focus on relatively isolated behaviors elicited by largely controlled prompts. We recognize that while the diagnosis process understands the indexing of the specific behaviors, ASD also comes with broad impairments that often transcend single behavioral acts. For instance, the atypical nonverbal behaviors manifest through global patterns of atypical postures and movements, fewer gestures used and often decoupled from visual contact, facial affect, speech. Here, we tested the hypothesis that a deep neural network trained on the non-verbal aspects of social interaction can effectively differentiate between children with ASD and their typically developing peers. Our model achieves an accuracy of 80.9% (F1 score: 0.818; precision: 0.784; recall: 0.854) with the prediction probability positively correlated to the overall level of symptoms of autism in social affect and repetitive and restricted behaviors domain. Provided the non-invasive and affordable nature of computer vision, our approach carries reasonable promises that a reliable machine-learning-based ASD screening may become a reality not too far in the future.

Lien vers le texte intégral (Open Access ou abonnement)

5. Kriara L, Hipp J, Chatham C, Nobbs D, Slater D, Lipsmeier F, Lindemann M. Beacon-Based Remote Measurement of Social Behavior in ASD Clinical Trials: A Technical Feasibility Assessment. Sensors (Basel, Switzerland). 2021; 21(14).

In this work, we propose a Bluetooth low energy (BLE) beacon-based algorithm to enable remote measurement of the social behavior of the participants of an observational Autism Spectrum Disorder (ASD) clinical trial (NCT03611075). We have developed a mobile application for a smartphone and a smartwatch to collect beacon signals from BLE beacon sensors as well as to store information about the participants’ household rooms. Our goal is to collect beacon information about the time the participants spent in different rooms of their household to infer sociability information. We applied the same technology and setup in an internal experiment with healthy volunteers to evaluate the accuracy of the proposed algorithm in 10 different home setups, and we observed an average accuracy of 97.2%. Moreover, we show that it is feasible for the clinical study participants/caregivers to set up the BLE beacon sensors in their homes without any technical help, with 96% of them setting up the technology on the first day of data collection. Next, we present results from one-week location data from study participants collected through the proposed technology. Finally, we provide a list of good practice guidelines for optimally applying beacon technology for indoor location monitoring. The proposed algorithm enables us to estimate time spent in different rooms of a household that can pave the development of objective sociability features and eventually support decisions regarding drug efficacy in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

6. Mansur F, Teles ESAL, Gomes AKS, Magdalon J, de Souza JS, Griesi-Oliveira K, Passos-Bueno MR, Sertié AL. Complement C4 Is Reduced in iPSC-Derived Astrocytes of Autism Spectrum Disorder Subjects. International journal of molecular sciences. 2021; 22(14).

In recent years, accumulating evidence has shown that the innate immune complement system is involved in several aspects of normal brain development and in neurodevelopmental disorders, including autism spectrum disorder (ASD). Although abnormal expression of complement components was observed in post-mortem brain samples from individuals with ASD, little is known about the expression patterns of complement molecules in distinct cell types in the developing autistic brain. In the present study, we characterized the mRNA and protein expression profiles of a wide range of complement system components, receptors and regulators in induced pluripotent stem cell (iPSC)-derived neural progenitor cells, neurons and astrocytes of individuals with ASD and neurotypical controls, which constitute in vitro cellular models that recapitulate certain features of both human brain development and ASD pathophysiology. We observed that all the analyzed cell lines constitutively express several key complement molecules. Interestingly, using different quantification strategies, we found that complement C4 mRNA and protein are expressed in significantly lower levels by astrocytes derived from ASD individuals compared to control astrocytes. As astrocytes participate in synapse elimination, and diminished C4 levels have been linked to defective synaptic pruning, our findings may contribute to an increased understanding of the atypically enhanced brain connectivity in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

7. Mayer AV, Wermter AK, Stroth S, Alter P, Haberhausen M, Stehr T, Paulus FM, Krach S, Kamp-Becker I. Randomized clinical trial shows no substantial modulation of empathy-related neural activation by intranasal oxytocin in autism. Scientific reports. 2021; 11(1): 15056.

Evidence suggests that intranasal application of oxytocin facilitates empathy and modulates its underlying neural processes, which are often impaired in individuals with autism spectrum disorders (ASD). Oxytocin has therefore been considered a promising candidate for the treatment of social difficulties in ASD. However, evidence linking oxytocin treatment to social behavior and brain function in ASD is limited and heterogeneous effects might depend on variations in the oxytocin-receptor gene (OXTR). We examined 25 male ASD patients without intellectual disability in a double-blind, cross-over, placebo-controlled fMRI-protocol, in which a single dose of oxytocin or placebo was applied intranasally. Patients performed three experiments in the MRI examining empathy for other’s physical pain, basic emotions, and social pain. All participants were genotyped for the rs53576 single-nucleotide polymorphism of the OXTR. Oxytocin increased bilateral amygdala responsiveness during the physical pain task for both painful and neutral stimuli. Other than that, there were no effects of oxytocin treatment. OXTR genotype did not significantly interact with oxytocin treatment. Our results contribute to the growing body of empirical literature suggesting heterogenous effects of oxytocin administration in ASD. To draw clinically relevant conclusions regarding the usefulness of oxytocin treatment, however, empirical studies need to consider methods of delivery, dose, and moderating individual factors more carefully in larger samples.

Lien vers le texte intégral (Open Access ou abonnement)

8. Sawacha Z, Spolaor F, Piątkowska WJ, Cibin F, Ciniglio A, Guiotto A, Ricca M, Polli R, Murgia A. Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait. Sensors (Basel, Switzerland). 2021; 21(14).

Fragile X Syndrome (FXS), the leading form of inherited intellectual disability and autism, is characterized by specific musculoskeletal conditions. We hypothesized that gait analysis in FXS could be relevant for the evaluation of motor control of gait, and help the understanding of a possible correlation between functional and intellectual abilities. Typical deficits in executive control and hyperactivity have hampered the use of standard gait analysis. The aim of our study was to quantitatively assess musculoskeletal alterations in FXS children in standard ambulatory conditions, in a friendly environment. Ten FXS children and sixteen controls, with typical neurodevelopment, were evaluated through four synchronized video cameras and surface electromyography; lower limb joints rotations, spatiotemporal parameters, duration of muscle contraction, activation timing and envelope peaks were determined. Reliability and repeatability of the video based kinematics analysis was assessed with respect to stereophotogrammetry. The Kruskal-Wallis Test (p < 0.05) or SPM1D were used to compare different groups of subjects. Results show a consistently altered gait pattern associated with abnormal muscle activity in FXS subjects: reduced knee and excessive hip and ankle flexion, and altered duration and activity onset on all the recorded muscles (Rectus/Biceps Femoris, Tibialis Anterior, Gastrocnemius Lateralis). Results of this study could help with planning personalized rehabilitations.

Lien vers le texte intégral (Open Access ou abonnement)

9. Spaniol MM, Magalhães J, Mevorach C, Shalev L, Teixeira M, Lowenthal R, de Paula CS. Association between attention, nonverbal intelligence and school performance of school-age children with Autism Spectrum Disorder from a public health context in Brazil. Research in developmental disabilities. 2021; 116: 104041.

BACKGROUND: Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction, restricted and repetitive behaviour, interests or activities. Difficulties in a broad spectrum of cognitive skills is often present, including attentional processes and nonverbal intelligence, which might be related to academic difficulties. AIMS: In this study, the association between attentional skills and nonverbal intelligence to school performance of children with ASD was assessed. METHODS AND PROCEDURES: 32 children/adolescents between 8-14 years old, who attended a treatment unit linked to the public health system of São Paulo-Brazil participated in the study. The following instruments were utilized: Cancellation Attention Test; Raven’s Coloured Progressive Matrices; and School Performance Test. OUTCOMES AND RESULTS: After correlation analysis, statistically significant associations were found between attention and nonverbal intelligence with school performance. Regression analysis showed that attention drives school performance irrespective of nonverbal intelligence. CONCLUSIONS AND IMPLICATIONS: Results evidence the link between attention and school performance in ASD, suggesting that attentional mechanisms may be a promising route to follow in the design of interventions for school improvement of children and adolescents with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

10. Tripathi I, Estabillo JA, Moody CT, Laugeson EA. Long-Term Treatment Outcomes of PEERS(®) for Preschoolers: A Parent-Mediated Social Skills Training Program for Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Although parent-assisted social skills interventions may reduce early social challenges in preschool-aged children with autism spectrum disorder (ASD), limited research has explored whether intervention gains maintain several years after treatment. This study examined the durability of PEERS(®) for Preschoolers, a parent-mediated social skills training program for preschool-aged children with ASD and other social challenges. Twenty-nine parents reported on child and family outcomes 1-5 years following treatment. Results demonstrated maintenance of treatment gains on measures of ASD-related social impairments including social communication, social responsiveness, social motivation, and peer engagement. Post-treatment improvements in problem behaviors and parenting stress were not maintained at long-term follow-up. Implications of these results are discussed.

Lien vers le texte intégral (Open Access ou abonnement)