1. Borie AM, Dromard Y, Guillon G, Olma A, Manning M, Muscatelli F, Desarmenien MG, Jeanneteau F. {{Correction of vasopressin deficit in the lateral septum ameliorates social deficits of mouse autism model}}. {The Journal of clinical investigation}. 2020.
Intellectual and social disabilities are common comorbidities in adolescents and adults with MAGEL2 gene deficiency characterizing the Prader-Willi and Schaaf-Yang neurodevelopmental syndromes. The cellular and molecular mechanisms underlying the risk for autism in these syndromes are not understood. We ask whether vasopressin functions are altered by MAGEL2 deficiency and whether a treatment with vasopressin can alleviate the disabilities of social behavior. We used Magel2 knockout mice (adult males) combined with optogenetic or pharmacological tools to characterize disease modifications in the vasopressinergic brain system and monitor its impact on neurophysiological and behavioral functions. We find that the activation of vasopressin neurons and its projections in the lateral septum are inappropriate to perform a social habituation/discrimination task. Mechanistically, the lack of vasopressin impedes the deactivation of somatostatin neurons in the lateral septum, which predicts social discrimination deficits. Correction of vasopressin septal content by administration or optogenetic stimulation of projecting axons suppressed the activity of somatostatin neurons and ameliorated social behavior. This preclinical study identifies vasopressin in the lateral septum as a key factor in the pathophysiology.
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2. Brašić JR, Nandi A, Russell DS, Jennings D, Barret O, Mathur A, Slifer K, Sedlak T, Martin SD, Brinson Z, Vyas P, Seibyl JP, Berry-Kravis EM, Wong DF, Budimirovic DB. {{Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome}}. {Brain Sci}. 2020; 10(12).
Glutamatergic receptor expression is mostly unknown in adults with fragile X syndrome (FXS). Favorable behavioral effects of negative allosteric modulators (NAMs) of the metabotropic glutamate receptor subtype 5 (mGluR(5)) in fmr1 knockout (KO) mouse models have not been confirmed in humans with FXS. Measurement of cerebral mGluR(5) expression in humans with FXS exposed to NAMs might help in that effort. We used positron emission tomography (PET) to measure the mGluR(5) density as a proxy of mGluR(5) expression in cortical and subcortical brain regions to confirm target engagement of NAMs for mGluR(5)s. The density and the distribution of mGluR(5) were measured in two independent samples of men with FXS (N = 9) and typical development (TD) (N = 8). We showed the feasibility of this complex study including MRI and PET, meaning that this challenging protocol can be accomplished in men with FXS with an adequate preparation. Analysis of variance of estimated mGluR(5) expression showed that mGluR(5) expression was significantly reduced in cortical and subcortical regions of men with FXS in contrast to age-matched men with TD.
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3. Brierley NJ, McDonnell CG, Parks KMA, Schulz SE, Dalal TC, Kelley E, Anagnostou E, Nicolson R, Georgiades S, Crosbie J, Schachar R, Liu X, Stevenson RA. {{Factor Structure of Repetitive Behaviors Across Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder}}. {J Autism Dev Disord}. 2020.
Restricted interests and repetitive behaviors (RRBs) are core symptoms of autism spectrum disorder (ASD), and commonly occur in attention-deficit/hyperactivity disorder (ADHD). Little is known about how RRBs manifest in ADHD. We quantified and compared factor structures of RRBs in children with ASD (n = 634) or ADHD (n = 448), and related factors to sex and IQ. A four-factor solution emerged, including Stereotypy, Self-Injury, Compulsions, and Ritualistic/Sameness. Factor structures were equivalent across diagnoses, though symptoms were more severe in ASD. IQ negatively correlated with Stereotypy, Self-Injury, and Compulsions in ASD, and negatively correlated with Compulsions and Ritualistic/Sameness behaviors in ADHD. In ASD only, females exhibited higher Self-Injury. Thus, patterns of RRBs are preserved across ASD and ADHD, but severity and relationship with IQ differed.
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4. Çebi AH, Altıner Ş. {{Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions}}. {Molecular syndromology}. 2020; 11(4): 197-206.
Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA. Phenotype-associated CNVs were detected in 15.18% of patients. Besides, we detected submicroscopic losses on 14q24.3q31.1 in a patient with speech delay and on 18q21.31q21.32 in twin patients with seizures. Deletions of NRXN3 and NEDD4L were responsible for the phenotypes, respectively. This study showed that CMA is a powerful diagnostic tool in this patient group and expands the genotype-phenotype correlations on developmental disabilities.
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5. Chen JY, Strodl E, Wu CA, Huang LH, Yin XN, Wen GM, Sun DL, Xian DX, Chen YJ, Yang GY, Chen WQ. {{Screen time and autistic-like behaviors among preschool children in China}}. {Psychology, health & medicine}. 2020: 1-14.
Screen time is becoming increasingly common in daily life. Early and excessive screen use has raised growing concerns for children’s neuropsychological development. The purpose of this study was to evaluate the association between exposure to screen time in early life and the presence of autistic-like behaviors among preschool children. 29,461 child-caregiver dyads at kindergartens in Longhua New District of Shenzhen, China, were enrolled in this cross-sectional study. Information concerning socio-demographic characteristics, frequency and duration of children’s electronic screen exposure for each year since birth, and autistic-like behaviors (measured by the Autism Behavior Checklist) were collected using a self-administered structured questionnaire completed by the primary caregivers. A series of logistic regression models assessed the association between screen time and autistic-like behaviors. Results indicated that younger initial age, longer daily screen time and longer cumulative years of screen exposure since birth were associated with the presence of autistic-like behaviors at preschool age. The risk was enhanced with the increase of both daily screen time and cumulative years of screen exposure during preschool period. Moreover, the cross-over analysis indicated that the first three years following birth might be a sensitive period for children when screen exposure increases the risk of experiencing autistic-like behaviors. In conclusion, our study implied that screen exposure in early life might increase the occurrence of autistic-like behaviors among preschoolers. These findings support the need for early interventions into preschoolers’ screen use, however longitudinal studies are necessary to further confirm the causal relationship between early screen time and the incidence of later autistic-like behaviors among preschool children.
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6. Chybicki D, Lipczyńska-Lewandowska M, Torbicka G, Janas-Naze A. {{Computer-Controlled Local Anesthesia Complication: Surgical Retrieval of a Broken Dental Needle in Noncooperative Autistic Paediatric Patient}}. {Case reports in dentistry}. 2020; 2020: 6686736.
The article describes an unusual case of retrieval of 8 mm fragment of a broken 30-gauge 21 mm dental needle in a 6 y.o. noncooperative autistic male patient. The needle of a computer-controlled local anesthesia device was broken during an attempt to administer local anesthetic, in order to perform conservative treatment of teeth 55 and 54 by a pedodontist. Despite the fact that the patient was under nitrous oxide sedation, an unexpected movement of the patient occurred and resulted in needle breakage. Due to the lack of patient cooperation, the surgical retrieval of a broken needle was performed under general anesthesia as part of one-day surgery procedures. The purpose of the article is to emphasize careful decision-making in proper choice of dental instruments during treatment of noncooperative paediatric patients even under sedation and to suggest dentists to carry out treatment of such patients under general anesthesia.
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7. Conway C, Lemons S, Terrazas L. {{Academy of Nutrition and Dietetics: Revised 2020 Standards of Practice and Standards of Professional Performance for Registered Dietitian Nutritionists (Competent, Proficient, and Expert) in Intellectual and Developmental Disabilities}}. {Journal of the Academy of Nutrition and Dietetics}. 2020; 120(12): 2061-75.e57.
Intellectual and developmental disabilities (IDD) encompass both intellectual disabilities (ID) and developmental disabilities (DD). In 2016, 7.37 million people in the United States and 200 million worldwide were identified with an ID or DD. Approximately 1 in 6 (17.8%) children have been identified with a DD in the United States, which is up from 16.2% in 2009-2011. Globally, 52.9 million children from birth to 5 years of age have been identified with a DD. Registered dietitian nutritionists (RDNs) have an important role in the treatment of this population, as optimizing nutrition status improves cognition and quality of life. The Behavioral Health Nutrition Dietetic Practice Group, with guidance from the Academy of Nutrition and Dietetics Quality Management Committee, has revised the Standards of Practice (SOP) and Standards of Professional Performance (SOPP) for RDNs in Intellectual and Developmental Disabilities for 3 levels of practice-competent, proficient, and expert. The SOP uses the Nutrition Care Process and clinical workflow elements for care of individuals with an ID or DD. The SOPP describes 6 domains that focus on professionalism. Indicators outlined in the SOP and SOPP depict how these standards apply to practice. The SOP and SOPP are complementary resources for RDNs caring for individuals with an ID or DD. The SOP and SOPP are intended to be used by RDNs for self-evaluation to assure competent practice and for determining potential education and training needs for advancement to a higher practice level in a variety of settings.
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8. Festerling K, Can K, Kügler S, Müller M. {{Overshooting Subcellular Redox-Responses in Rett-Mouse Hippocampus during Neurotransmitter Stimulation}}. {Cells}. 2020; 9(12).
Rett syndrome (RTT) is a neurodevelopmental disorder associated with disturbed neuronal responsiveness and impaired neuronal network function. Furthermore, mitochondrial alterations and a weakened cellular redox-homeostasis are considered part of the complex pathogenesis. So far, overshooting redox-responses of MeCP2-deficient neurons were observed during oxidant-mediated stress, hypoxia and mitochondrial inhibition. To further clarify the relevance of the fragile redox-balance for the neuronal (dys)function in RTT, we addressed more physiological stimuli and quantified the subcellular redox responses to neurotransmitter-stimulation. The roGFP redox sensor was expressed in either the cytosol or the mitochondrial matrix of cultured mouse hippocampal neurons, and the responses to transient stimulation by glutamate, serotonin, dopamine and norepinephrine were characterized. Each neurotransmitter evoked more intense oxidizing responses in the cytosol of MeCP2-deficient than in wildtype neurons. In the mitochondrial matrix the neurotransmitter-evoked oxidizing changes were more moderate and more uniform among genotypes. This identifies the cytosol as an important reactive oxygen species (ROS) source and as less stably redox buffered. Fura-2 imaging and extracellular Ca(2+) withdrawal confirmed cytosolic Ca(2+) transients as a contributing factor of neurotransmitter-induced redox responses and their potentiation in the cytosol of MeCP2-deficient neurons. Chemical uncoupling demonstrated the involvement of mitochondria. Nevertheless, cytosolic NADPH- and xanthine oxidases interact to play the leading role in the neurotransmitter-mediated oxidizing responses. As exaggerated redox-responses were already evident in neonatal MeCP2-deficient neurons, they may contribute remarkably to the altered neuronal network performance and the disturbed neuronal signaling, which are among the hallmarks of RTT.
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9. Fiscella NA, Case LK, Jung J, Yun J. {{Influence of Neighborhood Environment on Physical Activity Participation among Children with Autism Spectrum Disorder}}. {Autism Res}. 2020.
Despite the positive influence of environmental factors on physical activity (PA) levels of children, further investigation is necessary when considering the unique characteristics of children with autism spectrum disorder (ASD). The purpose of this study was to examine the relationship between neighborhood environment factors and PA among children with ASD by examining the extent to which (a) the built environment, (b) neighborhood safety, and (c) neighborhood support contributes to PA. A secondary data analysis using the 2016 and 2017 combined dataset of the National Survey of Children’s Health was used. The total sample included 14,944 children between the ages of 6-17 years; of this, a sample of 494 children had a parent-reported diagnosis of ASD. Multivariate logistic regressions were conducted to explore the unique influences of the above three neighborhood environment factors on PA engagement. Among children with and without ASD, an association was found between feeling safe and engaging in PA, that is, the odds of engaging in PA are greater among children who were safe in their neighborhoods than children who were not in safe neighborhoods. Surprisingly, other neighborhood factors do not have a significant relationship with PA participation among children with ASD at this time. Future studies should consider how to incorporate the support of others and feeling of safety into the neighborhood along with how to improve accessibility of the built environment in order to increase PA for children with ASD. LAY SUMMARY: The results of this study showed that neighborhood factors influence physical activity (PA) among children with ASD differently compared to their peers without ASD. Children with ASD who live in safe neighborhoods are more likely to engage in PA, while other neighborhood factors, such as playgrounds and support, are not associated with an increased likelihood of engaging in PA at this time. Efforts should be made to improve neighborhood accessibility and design in order to increase PA among children with ASD.
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10. Johnson KP, Zarrinnegar P. {{Autism Spectrum Disorder and Sleep}}. {Child and adolescent psychiatric clinics of North America}. 2021; 30(1): 195-208.
Children and adolescents with autism spectrum disorder (ASD) experience sleep disturbances, particularly insomnia, at rates much higher than the general population. Daytime behavioral problems and parental stress are associated with the resultant sleep deprivation. Behavioral interventions, parental education, and melatonin are effective treatments. The epidemiology of sleep disturbances in youth with ASD is reviewed in this article as well as the latest in treatments.
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11. Kang J, Han X, Hu JF, Feng H, Li X. {{The study of the differences between low-functioning autistic children and typically developing children in the processing of the own-race and other-race faces by the machine learning approach}}. {Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia}. 2020; 81: 54-60.
OBJECTIVE: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder which affects the developmental trajectory in several behavioral domains, including impairments of social communication and stereotyped behavior. Unlike typically developing children who can successfully obtain the detailed facial information to decode the mental status with ease, autistic children cannot infer instant feelings and thoughts of other people due to their abnormal face processing. In the present study, we tested the other-race face, the own-race strange face and the own-race familiar face as stimuli material to explore whether ASD children would display different face fixation patterns for the different types of face compared to TD children. We used a machine learning approach based on eye tracking data to classify autistic children and TD children. METHODS: Seventy-seven low-functioning autistic children and eighty typically developing children were recruited. They were required to watch a series face photos in a random order. According to the coordinate frequency distribution, the K-means clustering algorithm divided the image into 64 Area Of Interest (AOI) and selected the features using the minimal redundancy and maximal relevance (mRMR) algorithm. The Support Vector Machine (SVM) was used to classify to determine whether the scan patterns of different faces can be used to identify ASD, and to evaluate classification models from both accuracy and reliability. RESULTS: The results showed that the maximum classification accuracy was 72.50% (AUC = 0.77) when 32 of the 64 features of unfamiliar other-race faces were selected; the maximum classification accuracy was 70.63% (AUC = 0.76) when 18 features of own-race strange faces were selected; the maximum classification accuracy was 78.33% (AUC = 0.84) when 48 features of own-race familiar faces were selected; The classification accuracy of combining three types of faces reached a maximum of 84.17% and AUC = 0.89 when 120 features were selected. CONCLUSIONS: There are some differences between low-functioning autistic children and typically developing children in the processing of the own-race and other-race faces by the machine learning approach, which might be a useful tool for classifying low-functioning autistic children and TD children.
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12. Long J, Lu F, Guo X, Pang Y, Yang S, Chen H, He B. {{Parcellation of the thalamus by using a dual-segment method based on resting-state functional connectivity: an application on autism spectrum disorder}}. {Neurosci Lett}. 2020: 135518.
BACKGROUND: Evidence suggests thalamus is a key « information relay » center and all cortical areas receive inputs from the thalamus and each of the main nuclei of thalamus connects a single one or a few cortical areas. The traditional « winner-takes-all » thalamus parcellation method was then proposed based on this assumption. However, this method is based on the structural segments of the cortex which is not suitable for the functional parcellation of the thalamus. METHOD: Here we proposed a dual-segment method for thalamus functional parcellation based on the resting-state fMRI data. The traditional « winner-takes-all » and the proposed dual-segment methods were both applied to the dataset of 76 healthy controls (HCs) and 34 subjects with autism spectrum disorder. RESULTS: The results showed that the thalamus was subdivided into two sub-regions by using the dual-segment method: one is located in the dorsomedial part of thalamus which connects the high-level cognitive cortical regions; the other is located in the ventrolateral part of thalamus which connects the low-level sensory cortical areas. The functional connectivity strength between thalamus sub-regions and the corresponding cortical regions based on the dual-segment method was higher than that of results from the traditional « winner-takes-all » method. The thalamo-cortical functional connectivity based on our proposed method also showed higher classification ability to distinguish subjects with autism spectrum disorder from HCs. CONCLUSION: Our study will provide a new method for functional thalamus parcellation which might help understand the sub-regions functions of thalamus in neuroscience studies.
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13. Ma X, Wang XH, Lihua L. {{Identifying individuals with autism spectrum disorder based on the principal components of whole-brain phase synchrony}}. {Neurosci Lett}. 2020: 135519.
Autism spectrum disorder (ASD) is a brain disorder that develops during an early stage of childhood. Previous neuroimaging-based diagnostic models for ASD were based on static functional connectivity (FC). The nonlinear complexity of brain connectivity remains unexplored for ASD diagnosis. This study aimed to build intelligent discriminative models for ASD based on phase synchrony (PS). To this end, data from 49 patients with ASD and 41 healthy controls were obtained from the Autism Brain Imaging Data Exchange (ABIDE) project. PS between brain regions was determined using Hilbert transform. Principal component analysis (PCA) and support vector machines (SVMs) were used to build the discriminative models. PS-based models (AUC = 0.81) outperformed static FC-based models (AUC = 0.71). Furthermore, embedded functional biomarkers were discovered. Moreover, significant correlations were found between PCA-PS and the clinical severity of ASD. Together, intelligent discriminative models based on PS were established for ASD identification. The performance of the diagnostic models suggested the potential benefits of PS for clinical applications. The discriminative patterns indicated that PCA-PS features could be additional biomarkers for ASD research. Furthermore, the significant relationships between the PCA-PS features and clinical scores implied their potential use for personalized medication strategies.
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14. Maekawa M, Ohnishi T, Toyoshima M, Shimamoto-Mitsuyama C, Hamazaki K, Balan S, Wada Y, Esaki K, Takagai S, Tsuchiya KJ, Nakamura K, Iwata Y, Nara T, Iwayama Y, Toyota T, Nozaki Y, Ohba H, Watanabe A, Hisano Y, Matsuoka S, Tsujii M, Mori N, Matsuzaki H, Yoshikawa T. {{A potential role of fatty acid binding protein 4 in the pathophysiology of autism spectrum disorder}}. {Brain communications}. 2020; 2(2): fcaa145.
Autism spectrum disorder is a neurodevelopmental disorder characterized by difficulties in social communication and interaction, as well as repetitive and characteristic patterns of behaviour. Although the pathogenesis of autism spectrum disorder is unknown, being overweight or obesity during infancy and low weight at birth are known as risks, suggesting a metabolic aspect. In this study, we investigated adipose tissue development as a pathophysiological factor of autism spectrum disorder by examining the serum levels of adipokines and other metabolic markers in autism spectrum disorder children (n = 123) and typically developing children (n = 92) at 4-12 years of age. Among multiple measures exhibiting age-dependent trajectories, the leptin levels displayed different trajectory patterns between autism spectrum disorder and typically developing children, supporting an adipose tissue-dependent mechanism of autism spectrum disorder. Of particular interest, the levels of fatty acid binding protein 4 (FABP4) were significantly lower in autism spectrum disorder children than in typically developing subjects, at preschool age (4-6 years old: n = 21 for autism spectrum disorder and n = 26 for typically developing). The receiver operating characteristic curve analysis discriminated autism spectrum disorder children from typically developing children with a sensitivity of 94.4% and a specificity of 75.0%. We re-sequenced the exons of the FABP4 gene in a Japanese cohort comprising 659 autism spectrum disorder and 1000 control samples, and identified two rare functional variants in the autism spectrum disorder group. The Trp98Stop, one of the two variants, was transmitted to the proband from his mother with a history of depression. The disruption of the Fabp4 gene in mice evoked autism spectrum disorder-like behavioural phenotypes and increased spine density on apical dendrites of pyramidal neurons, which has been observed in the postmortem brains of autism spectrum disorder subjects. The Fabp4 knockout mice had an altered fatty acid composition in the cortex. Collectively, these results suggest that an ‘adipo-brain axis’ may underlie the pathophysiology of autism spectrum disorder, with FABP4 as a potential molecule for use as a biomarker.
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15. Noda H, Tokunaga A, Imamura A, Tanaka G, Iwanaga R. {{Visual Attention Affects Late Somatosensory Processing in Autism Spectrum Disorder}}. {Int J Neurosci}. 2020: 1-10.
Purpose: Somatosensory processing problems are often reported in individuals with autism spectrum disorder (ASD), along with an abnormal multimodal integration of visual, tactile, or proprioceptive information. However, the effects of visual stimulation and attention on somatosensory processing in ASD remains unknown. This study explores the effects of visual attention on somatosensory processing in ASD. Materials and Methods: The neural activity in somatosensory areas and associated regions was investigated by measuring somatosensory evoked potentials (SEPs) elicited by median nerve stimulation, in 3 different conditions (closed eyes, open eyes, and focused attention to a visual task). Nine individuals with ASD and 9 typically developing (TD) individuals participated in the study. Results: There were significant interactions between groups (ASD, TD) and conditions (closed eye, open eye, visual task requiring focused attention) for P100-N140 SEP amplitudes evaluated by 2-way analysis of variance. Post-hoc analyses revealed that the P100-N140 amplitude with closed eyes recorded larger SEPs in the ASD group than in the TD group at C3′ of the international 10-20 system. In the ASD group, the P100-N140 amplitude elicited smaller responses during visual tasks than with closed or open eyes. There were no significant differences in N20-P25 SEP components. Conclusions: These findings suggest that visual attention affects the later stages of somatosensory processing in individuals with ASD.
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16. O’Connor R, De Wouw MV, Moloney GM, Ventura-Silva AP, O’Riordan K, Golubeva A, Dinan TG, Schellekens H, Cryan JF. {{Strain Differences in Behaviour and Immunity in Aged Mice: Relevance to Autism}}. {Behav Brain Res}. 2020: 113020.
The BTBR mouse model has been shown to be associated with deficits social interaction and a pronounced engagement in repetitive behaviours. Autism spectrum disorder (ASD) is the most prevalent neurodevelopmental condition globally. Despite its ubiquity, most research into the disorder remains focused on childhood, with studies in adulthood and old age relatively rare. To this end, we explored the differences in behaviour and immune function in an aged BTBR T + Itpr3tf/J mouse model of the disease compared to a similarly aged C57bl/6 control. We show that while many of the alterations in behaviour that are observed in young animals are maintained (repetitive behaviours, antidepressant-sensitive behaviours, social deficits & cognition) there are more nuanced effects in terms of anxiety in older animals of the BTBR strain compared to C57bl/6 controls. Furthermore, BTBR animals also exhibit an activated T-cell system. As such, these results represent confirmation that ASD-associated behavioural deficits are maintained in ageing, and that that there may be need for differential interventional approaches to counter these impairments, potentially through targeting the immune system.
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17. Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. {{New Strategies for Clinical Trials in Autism Spectrum Disorder}}. {Reviews on recent clinical trials}. 2020.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that poses several challenges in terms of clinical diagnosis and investigation of molecular etiology. The lack of knowledge on the pathogenic mechanisms underlying ASD has hampered the clinical trials that so far have tried to target ASD behavioral symptoms. In order to improve our understanding of the molecular abnormalities associated with ASD, a deeper and more extensive genetic profiling of targeted individuals with ASD was needed. METHODS: The recent availability of new and more powerful sequencing technologies (third-generation sequencing) has allowed to develop novel strategies for characterization of comprehensive genetic profiles of individuals with ASD. In particular, this review will describe integrated approaches based on the combination of various omics technologies that will lead to a better stratification of targeted cohorts for the design of clinical trials in ASD. RESULTS: In order to analyze the big data collected by assays such as whole genome, epigenome, transcriptome, and proteome, it is critical to develop an efficient computational infrastructure. Machine learning models are instrumental to identify non-linear relationships between the omics technologies and therefore establish a functional informative network among the different data sources. CONCLUSION: The potential advantage provided by these new integrated omics-based strategies is to better characterize the genetic background of ASD cohorts, identify novel molecular targets for drug development, and ultimately offer a more personalized approach in the design of clinical trials for ASD.
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18. Perzolli S, Bertamini G, de Falco S, Venuti P, Bentenuto A. {{Emotional Availability and Play in Mother-Child Dyads with ASD: Changes during a Parental Based Intervention}}. {Brain Sci}. 2020; 10(12).
(1) Background: Parental involvement during intervention with children with Autism Spectrum Disorder (ASD) has been demonstrated to be fundamental for children’s developmental outcomes. However, most research focused on child gains especially considering cognitive functioning and symptoms severity, whereas parental and dyadic changes during intervention need further investigation. (2) Methods: 29 mothers in interaction with their preschool children with ASD were analyzed through two standardized behavioral and observational measures to evaluate the dyadic Emotional Availability (EA) and play skills before (T1) and after (T2) a parental-based intervention. (3) Results: Results revealed mothers increased affective quality and major awareness in understanding the signals produced by the child, that in turn was more responsive, involving also using more complex play strategies. Interestingly, the role of specific factors able to predict parental characteristics was investigated, pointing out the important contribution of mothers’ perceptions of having a difficult child and child language communicative abilities. (4) Conclusions: the study enhances knowledge about child and caregiver variables that impact on dyadic outcomes, identifying important target areas to be addressed during intervention. Further, our results suggest that a parental-based intervention supports and facilitates improvements in both children’s and caregivers’ affective quality and cognitive abilities.
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19. Petit-Frere P, Miltenberger RG. {{Evaluating a modified behavioral skills training procedure for teaching poison prevention skills to children with autism}}. {Journal of applied behavior analysis}. 2020.
Accidental poisonings can occur for children with disabilities as a result of ingesting household products, such as medications and cleaning chemicals, if the products are not stored safely. Behavioral approaches such as behavioral skills training (BST) have been used in previous research to teach safety skills to children with disabilities. However, research suggests that BST is not always effective for teaching safety skills to children with and without disabilities. Thus, the purpose of this study was to evaluate the efficacy of a modified BST package that incorporated a system of least prompts. A nonconcurrent multiple baseline design across participants was used to evaluate the effects of intervention with three 6-8-year-old children with autism. Results showed that BST with the prompt sequence increased poison prevention skills for all 3 participants and the skills maintained at follow-up.
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20. Rhodus EK, Barber J, Abner EL, Bardach SH, Gibson A, Jicha GA. {{Comparison of behaviors characteristic of autism spectrum disorder behaviors and behavioral and psychiatric symptoms of dementia}}. {Aging & mental health}. 2020: 1-9.
BACKGROUND: Similarities exist in behavioral expression of autism spectrum disorder (ASD) and Alzheimer’s disease and related dementias (ADRD). The purpose of this study was to assess presence of behavioral and psychiatric symptoms of dementia (BPSD) and ASD-like behaviors in adults with ADRD. METHODS: Using a cross-sectional design, data from University of Kentucky Alzheimer’s Disease Center participant cohort were used. Hierarchical linear regression was used to assess (1) the relationship between ASD-like behaviors (measured by the Gilliam Autism Rating Scale-Second Edition, GARS-2) and BPSD measured by the Neuropsychiatric Inventory (NPI), and (2) the relationship between ASD-like behaviors and dementia severity (measured by the Clinical Dementia Rating [CDR] sum of boxes), when controlling for BPSD. RESULTS: Complete data were available for 142 participants. Using α of 0.05, analyses identified ASD behaviors were significantly associated with BPSD severity ratings (r = 0.47; p < 0.001) and dementia severity (r = 0.46; p < 0.001). GARS-2 explained 6.1% (p < 0.001) of variance in CDR sum of boxes when controlling for NPI and other covariates. DISCUSSION: There is significant overlap in behaviors characteristic of ASD and BPSD as assessed by the NPI and GARS-2, despite the use of these instruments in disparate developmental vs. aging settings. ASD behaviors appear to not be solely present in early childhood as a manifestation of ASD but are also present in older adults with neurodegenerative cognitive impairment. Such associations warrant additional research into causation, assessment, and behavioral interventions to further enable new therapeutic approaches targeting ASD behaviors across the lifespan. Lien vers le texte intégral (Open Access ou abonnement)
21. Saito M, Nakamura K, Hirota K. {{Concerns for labor analgesia and autism spectrum disorders}}. {Journal of anesthesia}. 2020.
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22. Sanner CM, Neece CL, Herbozo S, Baum MF. {{A pilot study of enhanced operation fit: The feasibility of a camp-based health intervention for ethnically diverse families of children with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2020.
BACKGROUND: Obesity rates are higher in children with intellectual and developmental disabilities (DD) compared to typically developing (TD) children. In TD children, family-based (FB) interventions for obesity are the most effective interventions. Research addressing obesity interventions for children with IDD is limited. METHOD: We adapted a community-based obesity intervention created for TD children for children with IDD and added a parent education component. The current study examined the feasibility of Enhanced-Operation Fit, a camp-based intervention created in order to reduce weight, and improve health behavior outcomes. Participants were 16 children (68.8% male; M(age) = 13.15, SD(age) = 1.62) and their parents. RESULTS: Results indicated that incorporating a daily parent education group limited recruitment potential, but showed promising preliminary improvements in parent feeding and child eating behaviors. CONCLUSIONS: Health interventions for children with IDD are greatly needed and the current study may be a cost and time-efficient intervention to help address this public health crisis.
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23. Soares EE, Bausback K, Beard CL, Higinbotham M, Bunge EL, Gengoux GW. {{Social Skills Training for Autism Spectrum Disorder: a Meta-analysis of In-person and Technological Interventions}}. {Journal of technology in behavioral science}. 2020: 1-15.
Social skills training (SST) for autism spectrum disorder (ASD) has traditionally focused on face-to-face (F2F-SST) interventions. Recently, Behavioral Intervention Technologies (BITs-SST) have been utilized to target social skills deficits using computer-based programs, avatars, and therapeutic robots. The present meta-analysis reviews recent evidence and compares the efficacy of 14 F2F-SST and four identified BITs-SST intervention trials for youth with ASD. These preliminary analyses did not indicate significant differences between F2F-SST and BITs-SST, with effect sizes consistently in the medium to high range (g = 0.81 and g = 0.93, respectively). These findings provide initial support for the continued investigation of BITs for providing SST to youth with ASD.
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24. Stanton K, DeLucia EA, Brown MFD, McDonnell CG. {{Advancing understanding of the classification of broad autism phenotype and attention-deficit/hyperactivity disorder symptom dimensions within the Hierarchical Taxonomy of Psychopathology}}. {Personality and mental health}. 2020.
Research on personality and psychopathology associations has informed the classification of many symptom dimensions within the Hierarchical Taxonomy of Psychopathology (HiTOP). However, classification of symptom dimensions defining autism and attention-deficit/hyperactivity disorder (ADHD) within the HiTOP framework remains unclear in many ways. To address this issue, we examined the joint factor structure of (a) measures assessing characteristics relevant to ADHD and autism and (b) normal range personality traits in a sample of 547 adults recruited from Amazon Mechanical Turk, many of whom reported elevated autism-relevant and ADHD-relevant characteristics. We also examined how factors identified in these analyses correlated with measures of internalizing symptoms and select externalizing traits. Our results indicated that some measures assessing autism-relevant and ADHD-relevant characteristics (e.g. communication issues, hyperactivity/impulsivity) defined a distinct Attention and Communication Difficulties factor, with scores on this factor correlating strongly with internalizing symptom ratings. However, other relevant characteristics such as aloofness may be indicators of existing HiTOP spectra such as detachment. We discuss how these findings inform classification of autism-relevant and ADHD-relevant characteristics within the HiTOP, as well as key future directions for extending the limited research in this area.
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25. Strickland DC, Schulte AC, Welterlin A. {{Video-Based Training in Recognizing Exemplars of Autism Spectrum Disorder Diagnostic Criteria}}. {Training and education in professional psychology}. 2020; 14(4): 257-64.
Autism Spectrum Disorder (ASD) is an increasingly common neurodevelopmental disorder with long-term and pervasive effects. Despite the benefits of early diagnosis, research suggests that training in recognizing the behavioral markers of ASD and the fundamentals of ASD diagnosis are not routinely provided to prospective child clinicians. As a means to train students in recognizing exemplars of behavior consistent with ASD diagnostic criteria, we created a video library of brief clips of children and adults with and without ASD who varied on multiple dimensions (e.g., sex, ethnicity, language skills, developmental level). Using clips from the library, we developed a brief training program to instruct students on diagnostic criteria for ASD and how to recognize examples of these behaviors in children. A randomized experimental trial compared the impact of the video-based training program delivered via the Internet to conventional graduate-level textbook training. Although both textbook and video-based training groups improved in their identification of ASD behaviors, the video-based training group significantly outperformed the textbook-based training group at posttest. The creation of a video library that can be incorporated into remote access training is a promising means of allowing students to view a range of presentations of a disorder even when direct access to a diverse set of clients may be difficult.
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26. Thapa R, Pokorski I, Ambarchi Z, Thomas E, Demayo M, Boulton K, Matthews S, Patel S, Sedeli I, Hickie IB, Guastella AJ. {{Heart Rate Variability in Children With Autism Spectrum Disorder and Associations With Medication and Symptom Severity}}. {Autism Res}. 2020.
Decreased heart rate variability (HRV) is considered a common marker of autonomic dysfunction that contributes to poor health outcomes. While some studies have suggested that children with autism spectrum disorder (ASD) show reduced HRV, research is yet to consider whether this may be associated with medication use and symptom severity. This study examined the relationship between resting state HRV, medication use and symptom severity in children diagnosed with ASD. Children with ASD (N = 86), aged between 3 and 12 years (M = 8.09), were compared to 44 neurotypical children of similar age (M = 7.15). Laboratory assessment of HRV involved 5 min of non-invasive baseline electrocardiogram assessments while participants viewed an age-appropriate non-verbal animated video. Time-domain and frequency-domain HRV measures were analyzed. ASD symptom severity was assessed using the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Social Responsiveness Scale (SRS-2). Results indicated that children with ASD exhibited reduced resting HRV relative to neurotypical children. Subsequent analyses within the ASD group suggested that this group difference was greater in children who were taking psychotropic medication (N = 36). Our data also provides tentative evidence of a relationship between HRV and social impairment symptoms in children with ASD, with more severe repetitive behaviors (as measured by the ADOS-2) associated with decreased resting HRV. Overall, these findings suggest that HRV may be atypical in children with ASD and suggest the importance of exploring HRV as a risk factor for cardiovascular health in this group. LAY SUMMARY: Cardiac activity, such as heart rate variability (HRV), can provide insight into the autonomic nervous system. This study reports on the association between resting-state HRV and autonomic nervous system activity in young children with autism spectrum disorder (ASD) compared to neurotypical children. These results may help us understand what underlies autonomic nervous system dysfunction and the potential pathophysiological mechanisms leading to increased cardiovascular risk in ASD.
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27. Yoshida K, Koyama E, Zai CC, Beitchman JH, Kennedy JL, Lunsky Y, Desarkar P, Müller DJ. {{Pharmacogenomic Studies in Intellectual Disabilities and Autism Spectrum Disorder: A Systematic Review: Études Pharmacogénomiques en Déficiences Intellectuelles et Trouble du Spectre de L’autisme: Une Revue Systématique}}. {Can J Psychiatry}. 2020: 706743720971950.
BACKGROUND: Individuals with intellectual disability (ID) and autism spectrum disorder (ASD) often receive psychotropic medications such as antipsychotics and antidepressants to treat aberrant behaviors and mood symptoms, frequently resulting in polypharmacy and drug-related adverse effects. Pharmacogenomic (PGx) studies with ASD and/or ID (ASD/ID) have been scarce despite the promise of optimizing treatment outcomes. We reviewed the literature on PGx studies with antipsychotics and antidepressants (e.g., treatment response and adverse effects) in ASD/ID. METHODS: We performed a systematic review using MEDLINE, Embase, and PsycINFO, including peer-reviewed original articles in English referring to PGx in the treatment of ASD/ID in any age groups (e.g., treatment response and adverse effects). RESULTS: A total of 28 PGx studies using mostly candidate gene approaches were identified across age groups. Notably, only 3 studies included adults with ASD/ID while the other 25 studies focused specifically on children/adolescents with ASD/ID. Twelve studies primarily investigated treatment response, of which 5 and 6 studies included patients treated with antipsychotics and antidepressants, respectively. Most interesting results for response were reported for 2 sets of candidate gene studies, namely: (1) The DRD3 Ser9Gly (rs6280) polymorphism was examined in patients treated with risperidone in 3 studies, 2 of which reported an association with risperidone treatment response and (2) the SLC6A4 5-HTTLPR polymorphism and treatment response to antidepressants which was investigated in 4 studies, 3 of which reported significant associations. In regard to side effects, 9 of 15 studies focused on hyperprolactinemia in patients treated with risperidone. Among them, 7 and 5 studies examined the impact of CYP2D6 and DRD2 Taq1A polymorphisms, respectively, yielding mostly negative study findings. CONCLUSIONS: There is limited data available on PGx in individuals with ASD/ID and in particular in adults. Given the potential for PGx testing in improving treatment outcomes, additional PGx studies for psychotropic treatment in ASD/ID across age groups are warranted.
