1. Adams RE, Taylor JL, Bishop SL. {{Brief Report: ASD-Related Behavior Problems and Negative Peer Experiences Among Adolescents with ASD in General Education Settings}}. {J Autism Dev Disord}. 2020.
The goal of the current study was to test associations between various ASD-related behavior problems and negative peer experiences in adolescents with ASD. Data were obtained from the Bullying and School Experiences of Children with ASD Survey completed by parents in the Interactive Autism Network (IAN). The current study focused on data from 279 parents of 7th-11th graders with ASD who spent at least half of the school day in a general education setting. Logistic regression analyses found that frequent meltdowns, poor hygiene, rigid rule-keeping, and self-injury were associated with negative peer experiences. Surprisingly, repetitive behaviors and verbal tics were associated with a lower likelihood of experiencing verbal victimization.
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2. Alcaniz Raya M, Marin-Morales J, Minissi ME, Teruel Garcia G, Abad L, Chicchi Giglioli IA. {{Machine Learning and Virtual Reality on Body Movements’ Behaviors to Classify Children with Autism Spectrum Disorder}}. {J Clin Med}. 2020; 9(5).
Autism spectrum disorder (ASD) is mostly diagnosed according to behavioral symptoms in sensory, social, and motor domains. Improper motor functioning, during diagnosis, involves the qualitative evaluation of stereotyped and repetitive behaviors, while quantitative methods that classify body movements’ frequencies of children with ASD are less addressed. Recent advances in neuroscience, technology, and data analysis techniques are improving the quantitative and ecological validity methods to measure specific functioning in ASD children. On one side, cutting-edge technologies, such as cameras, sensors, and virtual reality can accurately detect and classify behavioral biomarkers, as body movements in real-life simulations. On the other, machine-learning techniques are showing the potential for identifying and classifying patients’ subgroups. Starting from these premises, three real-simulated imitation tasks have been implemented in a virtual reality system whose aim is to investigate if machine-learning methods on movement features and frequency could be useful in discriminating ASD children from children with typical neurodevelopment. In this experiment, 24 children with ASD and 25 children with typical neurodevelopment participated in a multimodal virtual reality experience, and changes in their body movements were tracked by a depth sensor camera during the presentation of visual, auditive, and olfactive stimuli. The main results showed that ASD children presented larger body movements than TD children, and that head, trunk, and feet represent the maximum classification with an accuracy of 82.98%. Regarding stimuli, visual condition showed the highest accuracy (89.36%), followed by the visual-auditive stimuli (74.47%), and visual-auditive-olfactory stimuli (70.21%). Finally, the head showed the most consistent performance along with the stimuli, from 80.85% in visual to 89.36% in visual-auditive-olfactory condition. The findings showed the feasibility of applying machine learning and virtual reality to identify body movements’ biomarkers that could contribute to improving ASD diagnosis.
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3. Cordeiro L, Braden M, Coan E, Welnick N, Tanda T, Tartaglia N. {{Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome}}. {Brain Sci}. 2020; 10(4).
An efficient and direct measure of social interactions and autism symptoms is needed for fragile X syndrome (FXS) research and clinical care. The Autism Screening Instrument for Educational Planning-Third Edition (ASIEP-3) Interaction assessment is a brief standardized measure that quantifies social responses under different conditions. The feasibility and validity of the ASIEP-3 was evaluated in 26 males and 13 females with FXS, along with cognitive testing and behavior questionnaires. The videos were scored at 10-second intervals, and the observed behaviors were scored as an interaction, independent play, no response, or aggression. In total, 39/41 participants successfully completed the ASIEP-3 (age M = 14.4 +/- 10.2), with a range of cognitive abilities (abbreviated IQ (ABIQ) M = 58.9 +/- 17.3, median = 50), behaviors (Aberrant Behavior Checklist (ABC) Total M = 37.00 +/- 27.3), and autism diagnoses (N = 22/39). Reliable administration was demonstrated by all team members. The mean coded behaviors included interaction (40.6%), independent play (36.8%), no response (21.1%), and aggressive behavior (<10%). The interaction score was negatively correlated with the Social Communication Questionnaire (SCQ) score (p = 0.037), and the profiles differed by autism spectrum disorder (ASD) diagnosis. The intraclass correlation coefficients (ICCs) ranged from 0.79 to 0.93 for master's level and above. Administration of the ASIEP-3 was feasible for FXS across sex, age, ability, and behavior ratings by a trained research team. Reliable scoring required advanced training in the assessment of social development and FXS experience. The scores correlated to ratings and diagnoses of ASD. The ASIEP-3 shows promise to reliably index social interactions in FXS. Lien vers le texte intégral (Open Access ou abonnement)
4. Dunn K, Rydzewska E, Fleming M, Cooper SA. {{Prevalence of mental health conditions, sensory impairments and physical disability in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland}}. {BMJ Open}. 2020; 10(4): e035280.
OBJECTIVES: To investigate prevalence of mental health conditions, sensory impairments and physical disability in children, adults and older adults with co-occurring intellectual disabilities and autism, given its frequent co-occurrence, compared with the general population. DESIGN: Whole country cohort study. SETTING: General community. PARTICIPANTS: 5709 people with co-occurring intellectual disabilities and autism, compared with 5 289 694 other people. OUTCOME MEASURES: Rates and ORs with 95% CIs for mental health conditions, visual impairment, hearing impairment and physical disability in people with co-occurring intellectual disabilities and autism compared with other people, adjusted for age, sex and interaction between age and co-occurring intellectual disabilities and autism. RESULTS: All four long-term conditions were markedly more common in children, adults and older adults with co-occurring intellectual disabilities and autism compared with other people. For mental health, OR=130.8 (95% CI 117.1 to 146.1); visual impairment OR=65.9 (95% CI 58.7 to 73.9); hearing impairment OR=22.0 (95% CI 19.2 to 25.2); and physical disability OR=157.5 (95% CI 144.6 to 171.7). These ratios are also greater than previously reported for people with either intellectual disabilities or autism rather than co-occurring intellectual disabilities and autism. CONCLUSIONS: We have quantified the more than double disadvantage for people with co-occurring intellectual disabilities and autism, in terms of additional long-term health conditions. This may well impact on quality of life. It raises challenges for staff working with these people in view of additional complexity in assessments, diagnoses and interventions of additional health conditions, as sensory impairments and mental health conditions in particular, compound with the persons pre-existing communication and cognitive problems in this context. Planning is important, with staff being trained, equipped, resourced and prepared to address the challenge of working for people with these conditions.
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5. Graham SF, Turkoglu O, Yilmaz A, Ustun I, Ugur Z, Bjorndhal T, Han B, Mandal R, Wishart D, Bahado-Singh RO. {{Targeted metabolomics highlights perturbed metabolism in the brain of autism spectrum disorder sufferers}}. {Metabolomics}. 2020; 16(5): 59.
INTRODUCTION: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficiencies in social interactions and communication, combined with restricted and repetitive behavioral issues. OBJECTIVES: As little is known about the etiopathophysiology of ASD and early diagnosis is relatively subjective, we aim to employ a targeted, fully quantitative metabolomics approach to biochemically profile post-mortem human brain with the overall goal of identifying metabolic pathways that may have been perturbed as a result of the disease while uncovering potential central diagnostic biomarkers. METHODS: Using a combination of (1)H NMR and DI/LC-MS/MS we quantitatively profiled the metabolome of the posterolateral cerebellum from post-mortem human brain harvested from people who suffered with ASD (n = 11) and compared them with age-matched controls (n = 10). RESULTS: We accurately identified and quantified 203 metabolites in post-mortem brain extracts and performed a metabolite set enrichment analyses identifying 3 metabolic pathways as significantly perturbed (p < 0.05). These include Pyrimidine, Ubiquinone and Vitamin K metabolism. Further, using a variety of machine-based learning algorithms, we identified a panel of central biomarkers (9-hexadecenoylcarnitine (C16:1) and the phosphatidylcholine PC ae C36:1) capable of discriminating between ASD and controls with an AUC = 0.855 with a sensitivity and specificity equal to 0.80 and 0.818, respectively. CONCLUSION: For the first time, we report the use of a multi-platform metabolomics approach to biochemically profile brain from people with ASD and report several metabolic pathways which are perturbed in the diseased brain of ASD sufferers. Further, we identified a panel of biomarkers capable of distinguishing ASD from control brains. We believe that these central biomarkers may be useful for diagnosing ASD in more accessible biomatrices. Lien vers le texte intégral (Open Access ou abonnement)
6. Kilmer M. {{Primary care of children with autism spectrum disorders: Developing confident healthcare leaders}}. {The Nurse practitioner}. 2020; 45(5): 41-7.
This series of articles aims to equip primary care providers (PCPs) with the tools to become healthcare leaders managing patients with pediatric autism spectrum disorder (ASD). Individuals with ASD can experience optimal health outcomes when timely, evidence-based interventions are implemented in the primary care setting. PCPs are uniquely situated to institute changes that redirect the trajectory of ASD.
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7. London MD, Mackenzie L, Lovarini M, Dickson C, Alvarez-Campos A. {{Animal Assisted Therapy for Children and Adolescents with Autism Spectrum Disorder: Parent perspectives}}. {J Autism Dev Disord}. 2020.
Animal-Assisted Therapy (AAT) is an intervention for children with Autism Spectrum Disorder (ASD). This study explores parent perspectives of the impact of five AAT sessions involving trained dogs with their children with ASD. A phenomenological qualitative approach was used to explore first-hand perspectives of parents. In-depth, semi-structured interviews were conducted. Data were analyzed using thematic analysis. Seventeen parents reported that the presence of the dogs facilitated their children’s engagement, enjoyment, and motivation. Parents also reported that this contributed to gains in the child’s communication with others and the dog (n = 11, 64.7%), behavioral regulation (n = 12, 70.6%), and community participation (n = 14, 82.3%). These findings indicate that parents supported the use of AAT and that dogs facilitated therapeutic gains.
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8. Maher GM, Dalman C, O’Keeffe GW, Kearney PM, McCarthy FP, Kenny LC, Khashan AS. {{Association between Preeclampsia and Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder: An Intergenerational Analysis}}. {Acta Psychiatr Scand}. 2020.
Using a large Swedish-based registry cohort, we estimated that preeclampsia is associated with a 25% increase in the likelihood of autism spectrum disorder (ASD), and a 15% increase in the likelihood of attention deficit hyperactivity disorder (ADHD) (n=2,842,230 and 2,047,619 respectively)(1, 2). Evidence suggests that certain non-communicable diseases may have an effect across several generations(3, 4). However, whether there is any intergenerational link between preeclampsia exposure and ASD or ADHD outcome in the child is unknown. Therefore, we conducted a cross family analysis to examine the intergenerational association between preeclampsia and ASD and ADHD using a large population-based cohort.
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9. Nie PY, Ji LL, Fu CH, Peng JB, Wang ZY, Tong L. {{miR-132 Regulates PTSD-like Behaviors in Rats Following Single-Prolonged Stress Through Fragile X-Related Protein 1}}. {Cellular and molecular neurobiology}. 2020.
Fragile X-related protein 1 (FXR1) is a member of the fragile X family of RNA-binding proteins, which regulates a number of neurological and neuropsychiatric disorders such as fragile X syndrome, and is expected as a novel therapeutic target for some psychiatric diseases. However, it is unknown how FXR1 changes and functions in post-traumatic stress disorder (PTSD), a common mental disorder related to trauma and stressor. In this study, we characterized the expression pattern of FXR1 in the pathophysiological process of PTSD and further investigated the possible mechanism underlying these changes by finding an upstream regulator, namely miRNA-132 (miR-132). Furthermore, we verified whether miR-132 silence had an effect on the PTSD-like behaviors of single prolonged stress (SPS) rats through open field test, forced swimming test, and water maze test. At last, we examined the expression levels of PSD95 and synapsin I in the hippocampus, which was one of the key brain regions associated with PTSD. We showed that the levels of FXR1 and fragile X mental retardation protein (FMRP), an autosomal homolog of FXR1, were decreased in the hippocampus of PTSD rats, but the levels of PSD95 and synapsin I were increased, which could be reversed by downregulation of miR-132. The results revealed that miR-132 could modulate PTSD-like behaviors in rats following SPS through regulating FXR1 and FMRP.
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10. Rafferty D, Tidman L, Ekas NV. {{Parenting experiences of fathers of children with autism spectrum disorder with or without intellectual disability}}. {J Intellect Disabil Res}. 2020.
BACKGROUND: Fathers of children with autism spectrum disorder (ASD) report more challenges than fathers of typically developing children, which also negatively impacts their psychological well-being. Although not studied to the same extent in fathers of children with ASD, the challenges experienced by fathers of typically developing children have been shown to impact parenting behaviours. Many children with ASD also have intellectual disability (ID), which adds additional parenting stress. The purpose of this qualitative study was to examine perceptions of parenting roles and father-child relationship quality in fathers of children with ASD and ASD/ID. METHODS: Twenty-eight fathers of children with ASD (n = 12) and ASD/ID (n = 16) completed a telephone interview. A phenomenological approach was used by two investigators to analyse the interviews. Both investigators coded the interviews and then discussed the final themes. RESULTS: Five major themes emerged. One theme that emerged was pre-birth expectations, and the remaining themes related to the post-diagnosis period: adjustments, experiences, co-parenting and quality of father-child relationship. Both fathers of a child with ASD and ASD/ID reported on all themes. CONCLUSIONS: Overall, fathers of children with ASD and ASD/ID reported similarly on the themes that emerged. Future research with more diverse samples is needed to continue to understand the fatherhood experience. The findings of this study have implications for the development of parent-focused programmes that are tailored to fathers’ unique experiences.
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11. Rizzolo D, Smith NE, McCall TC, Roberts A, Porta K. {{Physician Assistant Students’ Competency to Identify and Diagnose Autism Spectrum Disorder}}. {The journal of physician assistant education : the official journal of the Physician Assistant Education Association}. 2020.
PURPOSE: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in communication and reciprocal social interactions. Little research has focused on the evaluation of developmental/behavioral pediatric education in the physician assistant (PA) curriculum. Therefore, the aims of this study were to evaluate whether PA students received training in identifying the red flags of ASD, using screening tests such as the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F). Additionally, the study sought to determine if PA students received education on the evaluation and management of children with ASD along with the methods to communicate effectively with their caretakers. METHODS: A survey open to PA students was administered by the American Academy of PAs. Demographic information along with questions on knowledge and perceptions related to ASD were asked. Perceptions of preparation to discuss ASD with patient caregivers were assessed, along with vaccination beliefs, and training information was collected. RESULTS: A total of 213 PA students answered the survey. Students received training regarding the red flags for ASD as well as ASD-related skills. Of note, 58.2% did not receive training on administration of the M-CHAT-(R/F) and 54.9% did not receive training to provide care to patients with ASD; 77.8% received training to understand pediatric developmental milestones. PA students overwhelmingly rejected the suggestion that there is a link between vaccines and ASD. CONCLUSION: The importance of diagnosing ASD as early as possible has been demonstrated by years of research; yet, this study concludes that many students still do not feel comfortable recognizing the red flags or using screening tools. Although the majority of PA students received training to understand developmental milestones, many did not know how to administer the M-CHAT-(R/F), which is key to making an early diagnosis.
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12. Rohanachandra YM, Prathapan S, Amarabandu HGI. {{The knowledge of Public Health Midwives on Autism Spectrum Disorder in two selected districts of the Western Province of Sri Lanka}}. {Asian J Psychiatr}. 2020; 52: 102094.
BACKGROUND: Early interventions are important for improving outcome in autism. However, the diagnosis of autism is often delayed for 3-4 years, which leads to missed opportunities to initiate early intensive behavioural interventions, thus jeopardizing its prognosis. The lack of knowledge among healthcare workers about the features of autism is postulated to be the main reason for this delay. METHODOLOGY: A descriptive cross-sectional study was carried out among the PHMs in the Colombo and Kalutara districts of the Western Province, Sri Lanka. A specifically designed self-administered questionnaire was used to obtain information about the socio-demographic details. The knowledge about the signs and symptoms and common comorbidities of ASD were assessed using the « Knowledge about Childhood Autism among Health Workers (KCAHW) Questionnaire ». RESULTS: Out of 406 participants, 56.9 % (n = 231) were from the Colombo District. The mean knowledge of the participants on the « Knowledge about Childhood Autism among Health Workers (KCAHW) Questionnaire » was 13.23/19 (SD = 2.647). The knowledge was significantly higher in those who had participated in training programmes on autism (p < 0.01) and in those who have had contact with a child with autism (p < 0.05). Of the participants, 17.2 % (n = 70) believed that autism could be completely cured. 43.6 % and 42.2 % believed that poor attention from parents and parental conflicts during pregnancy and early childhood caused autism in children respectively. CONCLUSION: The knowledge of PHMs on autism is inadequate, with regard to the comorbidities, aetiology and treatment options. In service programmes are useful in improving the knowledge of PHMs on autism. Lien vers le texte intégral (Open Access ou abonnement)
13. Udhnani MD, Kenworthy L, Wallace GL, Yerys BE. {{Brief Report: Performance-Based Executive Functioning Abilities are Associated with Caregiver Report of Adaptive Functioning in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Executive functioning is thought to contribute to adaptive behavior skills development in individuals with autism spectrum disorder (ASD). However, supporting data are largely based on caregiver reports of executive functioning. The current study evaluated whether performance-based measures of executive functioning (working memory and inhibition) explained unique variance in parent-reported adaptive functioning among youth with ASD without an intellectual disability. Both spatial and verbal working memory were associated with adaptive functioning, particularly communication and daily living skills. Our findings demonstrate a robust relationship between working memory and adaptive functioning that translates across different measurement modalities. This preliminary study highlights that targeting executive functioning may be a critical component of an adaptive function training program.
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14. Xiong GJ, Cheng XT, Sun T, Xie Y, Huang N, Li S, Lin MY, Sheng ZH. {{Defects in syntabulin-mediated synaptic cargo transport associate with autism-like synaptic dysfunction and social behavioral traits}}. {Mol Psychiatry}. 2020.
The formation and maintenance of synapses require long-distance delivery of newly synthesized synaptic proteins from the soma to distal synapses, raising the fundamental question of whether impaired transport is associated with neurodevelopmental disorders such as autism. We previously revealed that syntabulin acts as a motor adapter linking kinesin-1 motor and presynaptic cargos. Here, we report that defects in syntabulin-mediated transport and thus reduced formation and maturation of synapses are one of core synaptic mechanisms underlying autism-like synaptic dysfunction and social behavioral abnormalities. Syntabulin expression in the mouse brain peaks during the first 2 weeks of postnatal development and progressively declines during brain maturation. Neurons from conditional syntabulin(-/-) mice (stb cKO) display impaired transport of presynaptic cargos, reduced synapse density and active zones, and altered synaptic transmission and long-term plasticity. Intriguingly, stb cKO mice exhibit core autism-like traits, including defective social recognition and communication, increased stereotypic behavior, and impaired spatial learning and memory. These phenotypes establish a new mechanistic link between reduced transport of synaptic cargos and impaired maintenance of synaptic transmission and plasticity, contributing to autism-associated behavioral abnormalities. This notion is further confirmed by the human missense variant STB-R178Q, which is found in an autism patient and loses its adapter capacity for binding kinesin-1 motors. Expressing STB-R178Q fails to rescue reduced synapse formation and impaired synaptic transmission and plasticity in stb cKO neurons. Altogether, our study suggests that defects in syntabulin-mediated transport mechanisms underlie the synaptic dysfunction and behavioral abnormalities that bear similarities to autism.
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15. Zagrabska-Swiatkowska P, Mulhern T, Ming S, Stewart I, McElwee J. {{Training class inclusion responding in individuals with autism: Further investigation}}. {Journal of applied behavior analysis}. 2020.
Class inclusion (CI) requires responding to an item simultaneously as a member of both a class and a more inclusive class that contains that class. This study extends previous research by Ming et al. (2018) who trained CI responding in typically developing children and individuals with autism using a Relational Frame Theory (RFT) approach according to which CI involves responding in accordance with relations of containment and comparison. In Ming et al., participants experienced multiple exemplar training in which class containment relations were represented by placing pictures (of subclasses of animals) within nested transparent boxes. In the current study, 3 adult males with autism and moderate learning disability were not able to learn CI responding using contingent feedback alone. However, an intervention involving nonarbitrary guidance facilitated the repertoire. Implications and future directions are discussed.
