1. Ahmadabadi F, Nemati H, Abdolmohammadzadeh A, Ahadi A. {{Autistic feature as a presentation of Inborn Errors of Metabolism}}. {Iranian journal of child neurology}. 2020; 14(4): 17-28.
Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders characterized by social and communication impairment and restricted or repetitive behaviors. The pathogenesis of ASD is not well understood and it’s proved that genetic is strongly associated with ASD in 5 to 25% of cases. Inborn errors of metabolism(IEMs), defined by a vast array of disorders that are caused by specific enzyme deficiencies or transport protein defects, is as frequent as in 1 in 800 births. IEMs can manifest several psychiatric or behavioral manifestations such as self-injuriesincreased activity and aggression, personality changes, paranoia, depression, catatonia, and psychosis. IEMs underlie autistic symptoms in less than 5% of cases. The literature on the association between ASD and respiratory chain abnormalities is growing, including complex III/IV deficiency and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, as well as glucose-6-phosphate dehydrogenase deficiency. Google Scholar, Pubmed, and SCOPUS databases were searched using a combination of the following keywords: « autism spectrum disorder », « autism spectrum », « autistic feature » and « inborn error of metabolism », » IEM », « congenital error of metabolism ». Initially, 655 articles were found and our expert and methodologist altogether selected 187 articles based on the titles, relevance, and text language. After reading full texts, 37 studies were selected for review. We think it’s best to consider IEMs in children with syndromic ASD and/or if there is a strong familial history of autism or parental consanguineous marriage.
2. An S, Bill C, Yang Q. {{Comprehension of the Presupposition Trigger Ye « Also » by Mandarin-Speaking Preschoolers With and Without Autism Spectrum Disorders}}. {Front Psychol}. 2020; 11: 570453.
Individuals with autism spectrum disorders (ASD) have been reported to be widely impaired in their understanding of linguistic expressions that rely on elements of the context or norms of communication. The accurate interpretation of sentences conveying presuppositions often relies on such content, however, little previous research has investigated the ASD population’s understanding of these sentences. The present study attempts to remedy this by exploring the understanding that Mandarin-speaking preschoolers with ASD and their typically developing (TD) peers have of sentence containing the presupposition trigger ye « also ». We used a Picture Selection Task and found that Mandarin-speaking preschool children with ASD performed significantly worse than their TD peers with regard to their understanding of the presuppositional content of sentences containing this presupposition trigger. Additionally, in contrast with previous results, TD preschoolers’ understanding of this presupposition trigger was found to be adult-like. We attribute this to an improved experimental design.
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3. Auberry K. {{Educating behavior clinicians in a community behavior care center for children with autism spectrum disorder: Medication administration a pilot study in the United States}}. {Journal of intellectual disabilities : JOID}. 2020: 1744629520967176.
Autism Spectrum Disorder (ASD) is a multifaceted developmental disability requiring specialized supports. Due to the growing diagnoses of ASD, the demand for behavior treatment centers has also grown. These centers offer a wide range of beneficial services to children with ASD, including medication administration and management. While centers may employ highly educated and certified employees, there may be a gap in education related to medication administration and medication management knowledge. Using an evidence based education tool, this study sought to explore if clinicians in a behavior care center could gain knowledge in their ability to accurately administer and manage medications for children with ASD, and postulate if existing post-secondary curricula for behavior clinicians should be enriched to include medication administration and management training. This comprised two separate day long sessions of an implementation pilot study of best practice education in medication administration and medication management for behavior clinicians employed at a community behavior care center for children with ASD in the United States. Using the Statistical Package for the Social Sciences, 25 (SPSS), the paired samples t-test was applied for analysis. The quantitative results demonstrated the skill level treatment effect was statistically significant (p < .001). On the basis of the results the author makes recommendations regarding how to include medication administration and medication management education into existing behavior clinician curricula in the United States. Lien vers le texte intégral (Open Access ou abonnement)
4. Aykan S, Gürses E, Tokgöz-Yılmaz S, Kalaycıoğlu C. {{Auditory Processing Differences Correlate With Autistic Traits in Males}}. {Front Hum Neurosci}. 2020; 14: 584704.
Autism spectrum disorder (ASD) has high prevalence among males compared to females but mechanisms underlying the differences between sexes are poorly investigated. Moreover, autistic symptoms show a continuity in the general population and are referred to as autistic traits in people without an ASD diagnosis. One of the symptoms of ASD is sensory processing differences both in sensitivity and perception. To investigate sensory processing differences in autistic traits, we examined auditory and visual processing in a healthy population. We recruited 75 individuals (39 females and 36 males, mean age = 23.01 years, SD = 3.23 years) and assessed autistic traits using the Autism Spectrum Quotient, and sensory sensitivity using the Sensory Sensitivity Scales. Sensory processing in the visual domain was examined with the radial motion stimulus and the auditory domain was assessed with the 1,000 Hz pure tone stimulus with electroencephalography-evoked potentials. The results showed that the auditory sensitivity scores of the males (r (aud) (34) = 0.396, p (aud) = 0.017) and the visual sensitivity scores of females were correlated with autistic traits (r (vis) (37) = 0.420, p (vis) = 0.008). Moreover, the P2 latency for the auditory stimulus was prolonged in the participants with a higher level of autistic traits (r (s) (61) = 0.411, p = 0.008), and this correlation was only observed in males (r (s) (31) = 0.542, p = 0.001). We propose that auditory processing differences are related to autistic traits in neurotypicals, particularly in males. Our findings emphasize the importance of considering sex differences in autistic traits and ASD.
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5. Boyle S, McNaughton D, Light J, Babb S, Chapin SE. {{The Effects of Shared e-Book Reading With Dynamic Text and Speech Output on the Single-Word Reading Skills of Young Children With Developmental Disabilities}}. {Language, speech, and hearing services in schools}. 2020: 1-10.
Purpose This study investigated the use of a new software feature, namely, dynamic text with speech output, on the acquisition of single-word reading skills by six children with developmental disabilities during shared e-book reading experiences with six typically developing peers. Method A single-subject, multiple-probe design across participants was used to evaluate the effects of the software intervention. Six children with developmental delays were the primary focus for intervention, while six children with typical development participated as peer partners in intervention activities. e-Books were created with the new software feature, in which a child selects a picture from the e-book and the written word is presented dynamically and then spoken out. These e-books were then used in shared reading activities with dyads including a child with a disability and a peer with typical development. Participants engaged in the shared reading activity for an average of 13 sessions over a 6-week time period, an average of 65 min of intervention for each dyad. Results Participants with disabilities acquired an average of 73% of the words to which they were exposed, a gain of 4.3 words above the baseline average of 1.7 correct responses. The average effect size (Tau-U) was .94, evidence of a very large effect. Conclusion The results provide evidence that the use of e-books with the dynamic text and speech output feature during inclusive shared reading activities can be an effective and socially valid method to develop the single-word reading skills of young children with developmental disabilities.
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6. Cameron LA, Phillips K, Melvin GA, Hastings RP, Gray KM. {{Psychological interventions for depression in children and young people with an intellectual disability and/or autism: systematic review}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-10.
BACKGROUND: Children and young people with intellectual disability and/or Autism Spectrum Disorder (autism) experience higher rates of mental health problems, including depression, than their typically developing peers. Although international guidelines suggest psychological therapies as first-line intervention for children and young people, there is limited evidence for psychological therapy for depression in children and young people with intellectual disability and/or autism. AIMS: To evaluate the current evidence base for psychological interventions for depression in children and young people with intellectual disability and/or autism, and examine the experiences of children and young people with intellectual disability and/or autism, their families and therapists, in receiving and delivering psychological treatment for depression. METHOD: Databases were searched up to 30 April 2020 using pre-defined search terms and criteria. Articles were independently screened and assessed for risk of bias. Data were synthesised and reported in a narrative review format. RESULTS: A total of 10 studies met the inclusion criteria. Four identified studies were clinical case reports and six were quasi-experimental or experimental studies. All studies were assessed as being of moderate or high risk of bias. Participants with intellectual disability were included in four studies. There was limited data on the experiences of young people, their families or therapists in receiving or delivering psychological treatment for depression. CONCLUSIONS: Well-designed, randomised controlled trials are critical to develop an evidence base for psychological treatment for young people with intellectual disability and/or autism with depression. Future research should evaluate the treatment experiences of young people, their families and therapists.
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7. Crompton CJ, Sharp M, Axbey H, Fletcher-Watson S, Flynn EG, Ropar D. {{Neurotype-Matching, but Not Being Autistic, Influences Self and Observer Ratings of Interpersonal Rapport}}. {Front Psychol}. 2020; 11: 586171.
The Double Empathy Problem suggests that communicative difficulties between autistic and non-autistic people are due to bi-directional differences in communicative style and a reciprocal lack of understanding. If true, there should be increased similarity in interaction style, resulting in higher rapport during interactions between pairs of the same neurotype. Here, we provide two empirical tests of rapport, with data revealing whether self- and observer- rated rapport varies depending on the match or mismatch in autism status within a pair. An additional opportunity afforded by these data is to examine the effect of the autism status of the rater on the perceived rapport between matched and mismatched pairs. In Study 1 72 participants were allocated to one of three dyad conditions: autistic pairs (n = 24), non-autistic pairs (n = 24) and mixed pairs (n = 12 autistic; n = 12 non-autistic). Each participant completed three semi-structured interactions with their partner, rating rapport after each interaction. Non-autistic pairs experienced higher self-rated rapport than mixed and autistic pairs, and autistic pairs experienced higher rapport than mixed pairs. In Study 2 (n = 80) autistic and non-autistic observers rated interactional rapport while watching videoed interactions between autistic pairs, non-autistic pairs, and mixed pairs (n = 18, a subset of participants in Study 1). Mixed pairs were rated significantly lower on rapport than autistic and non-autistic pairs, and autistic pairs were rated more highly for rapport than non-autistic pairs. Both autistic and non-autistic observers show similar patterns in how they rate the rapport of autistic, non-autistic, and mixed pairs. In summary, autistic people experience high interactional rapport when interacting with other autistic people, and this is also detected by external observers. Rather than autistic people experiencing low rapport in all contexts, their rapport ratings are influenced by a mismatch of diagnosis. These findings suggest that autistic people possess a distinct mode of social interaction style, rather than demonstrating social skills deficits. These data are considered in terms of their implications for psychological theories of autism, as well as practical impact on educational and clinical practice.
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8. Del Bianco T, Mason L, Charman T, Tillman J, Loth E, Hayward H, Shic F, Buitelaar J, Johnson MH, Jones EJH. {{Temporal Profiles of Social Attention Are Different Across Development in Autistic and Neurotypical People}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2020.
BACKGROUND: Sociocommunicative difficulties, including abnormalities in eye contact, are core diagnostic features of autism spectrum disorder (ASD). Many studies have used eye tracking to measure reduced attention to faces in autistic people; however, most of this work has not taken advantage of eye-tracking temporal resolution to examine temporal profiles of attention. METHODS: We used growth curve analysis to model attention to static social scenes as a function of time in a large (N = 650) sample of autistic participants and neurotypical participants across a wide age range (6-30 years). RESULTS: The model yielded distinct temporal profiles of attention to faces in the groups. Initially, both groups showed a relatively high probability of attending to faces, followed by decline after several seconds. The neurotypical participants, however, were significantly more likely to return their attention to faces in the latter part of each 20-second trial, with increasing probability with age. In contrast, the probability of returning to the face in the autistic participants remained low across development. In participants with ASD, more atypical profiles of attention were associated with lower Vineland Adaptive Behavior Scales communication scores and a higher curvature in one data-driven cluster correlated with symptom severity. CONCLUSIONS: These findings show that social attention not only is reduced in ASD, but also differs in its temporal dynamics. The neurotypical participants became more sophisticated in how they deployed their social attention across age, a pattern that was significantly reduced in the participants with ASD, possibly reflecting delayed acquisition of social expertise.
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9. DelaCuesta-Barrutia J, Peñagarikano O, Erdozain AM. {{G Protein-Coupled Receptor Heteromers as Putative Pharmacotherapeutic Targets in Autism}}. {Frontiers in cellular neuroscience}. 2020; 14: 588662.
A major challenge in the development of pharmacotherapies for autism is the failure to identify pathophysiological mechanisms that could be targetable. The majority of developing strategies mainly aim at restoring the brain excitatory/inhibitory imbalance described in autism, by targeting glutamate or GABA receptors. Other neurotransmitter systems are critical for the fine-tuning of the brain excitation/inhibition balance. Among these, the dopaminergic, oxytocinergic, serotonergic, and cannabinoid systems have also been implicated in autism and thus represent putative therapeutic targets. One of the latest breakthroughs in pharmacology has been the discovery of G protein-coupled receptor (GPCR) oligomerization. GPCR heteromers are macromolecular complexes composed of at least two different receptors, with biochemical properties that differ from those of their individual components, leading to the activation of different cellular signaling pathways. Interestingly, heteromers of the above-mentioned neurotransmitter receptors have been described (e.g., mGlu2-5HT2A, mGlu5-D2-A2A, D2-OXT, CB1-D2, D2-5HT2A, D1-D2, D2-D3, and OXT-5HT2A). We hypothesize that differences in the GPCR interactome may underlie the etiology/pathophysiology of autism and could drive different treatment responses, as has already been suggested for other brain disorders such as schizophrenia. Targeting GPCR complexes instead of monomers represents a new order of biased agonism/antagonism that may potentially enhance the efficacy of future pharmacotherapies. Here, we present an overview of the crosstalk of the different GPCRs involved in autism and discuss current advances in pharmacological approaches targeting them.
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10. Donnelly LJ, Cervantes PE, Guo F, Stein CR, Okparaeke E, Kuriakose S, Filton B, Havens J, Horwitz SM. {{Changes in Attitudes and Knowledge after Trainings in a Clinical Care Pathway for Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Caring for individuals with autism spectrum disorder (ASD) can be complicated, especially when challenging behaviors are present. Providers may feel unprepared to work with these individuals because specialized training for medical and social service providers is limited. To increase access to specialized training, we modified an effective half-day ASD-Care Pathway training (Kuriakose et al. 2018) and disseminated it within five different settings. This short, focused training on strategies for preventing and reducing challenging behaviors of patients with ASD resulted in significant improvements in staff perceptions of challenging behaviors, increased comfort in working with the ASD population, and increased staff knowledge for evidence-informed practices. Implications, including the impact of sociodemographic characteristics on pre/post changes, and future directions are discussed.
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11. Ebrahimi Meimand S, Rostam-Abadi Y, Rezaei N. {{Autism Spectrum Disorders and Natural Killer Cells: A Review on Pathogenesis and Treatment}}. {Expert review of clinical immunology}. 2020.
Introduction: Autism spectrum disorder (ASD), as a wide spectrum of neurodevelopmental disorders, is characterized by early-onset impairments in social-communication, repetitive behaviors, and restrictive interests. Areas covered: Although still unknown, there are some pieces of evidence suggesting altered immune function in the etiology of ASD. This review aims to summarize studies linking Natural Killer (NK) cells to ASD by searching through databases like MEDLINE and Scopus up to October 2020. NK cells play important roles in the innate immune system and immune regulation. As parts of the immune system, they interact with the neural system as well. Immune dysregulations such as autoimmunity and improper immune responses to both internal and external stimulations, especially in early developmental stages of the brain, may induce neurodevelopmental disorders. NK cells’ dysfunction in children with ASD as well as their parents have been highlighted in many studies. Expert opinion: Changes in the frequency, gene expressions, cytotoxicity features, and receptors of NK cells are reported in children with ASD. Immune therapy for children with ASD with immune abnormality has shown promising results. However, further studies are needed to elucidate the exact role of NK cells in the pathogenesis of ASD providing future treatment options for these children.
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12. Groot IZ, Lever AG, Koolschijn PC, Geurts HM. {{Brief Report: Using Cognitive Screeners in Autistic Adults}}. {J Autism Dev Disord}. 2020.
By comparing 51 autistic adults and 49 age-matched controls (aged 30-73 years) we tested if (1) the Montreal Cognitive Assessment (MoCA) is more sensitive in measuring cognitive impairments than the Mini Mental State Examination (MMSE) and (2) if we can replicate the MoCA-findings of Powell et al. (2017) with the Dutch MoCA(-NL). Results showed that: (1) The MoCA-NL is more sensitive, and (2) like Powell, no group differences were observed on the MoCA-NL. However, in contrast to Powell, we did not observe that older autistic adults show more impairment than controls on the MoCA-NL. Nonetheless, as the MoCA-NL is more sensitive to cognitive impairment, it is the recommended screener for older autistic adults.
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13. Hosozawa M, Mandy W, Cable N, Flouri E. {{The Role of Decision-Making in Psychological Wellbeing and Risky Behaviours in Autistic Adolescents Without ADHD: Longitudinal Evidence from the UK Millennium Cohort Study}}. {J Autism Dev Disord}. 2020.
This study examined the development of decision-making and its association with psychological wellbeing and risky behaviours in adolescents with and without autism. Participants included 270 autistic and 9,713 typically developing adolescents. In both samples, those with a diagnosis of attention-deficit/hyperactivity disorder (ADHD) were excluded. Data came from the Millennium Cohort Study, a nationally representative population-based birth cohort. Decision-making was assessed using the Cambridge Gambling Task at ages 11 and 14. Psychological wellbeing (happiness, self-esteem, depressive symptoms and self-harm) and risky/antisocial behaviours were self-reported at age 14. After adjusting for sex, cognitive ability, spatial working memory, socioeconomic status and pubertal status, autistic adolescents showed comparable quality of decision-making to that of their peers at both ages but also a more deliberative decision-making style as they aged. Only in autistic adolescents was this decision-making style associated with positive outcomes.
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14. Ioannou C, Seernani D, Stefanou ME, Riedel A, Tebartz van Elst L, Smyrnis N, Fleischhaker C, Biscaldi-Schaefer M, Boccignone G, Klein C. {{Comorbidity Matters: Social Visual Attention in a Comparative Study of Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder and Their Comorbidity}}. {Frontiers in psychiatry}. 2020; 11: 545567.
Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) represent two common neurodevelopmental disorders with considerable co-occurrence. Their comorbidity (ASD + ADHD) has been included in the latest diagnostic guidelines (DSM-V, 2013). The present study focuses on social visual attention that i) is a main aspect of social attention reflecting social cognition and ii) its atypicalities have been suggested as a potential biomarker for ASD. Considering the possible shared background of both disorders and their comorbidity, it is important to compare such traits directly. Here, 73 children and adolescents paired for age and IQ diagnosed with ASD (N = 12), ADHD (N = 21), comorbid ASD + ADHD (N = 15), and « typically developing » (TD) controls (N = 25), were shown static real-life social scenes while their gaze movements were recorded with eye-tracking. Scenes with two levels of social complexity were presented: low complexity (one person depicted) and high (four interacting individuals). Gaze fixation variables were investigated. Fixation duration on faces was significantly reduced only in ASD + ADHD which also required longer time to fixate all faces at least once. Fixation duration on faces in ASD was reduced, compared to TD, only when looking at scenes with high versus low social complexity. ADHD individuals did not differ from TD. Concluding, the observed alterations of social visual attention support the existence of possible dysfunctional particularities differentiating ASD, ADHD, and ASD + ADHD, which can be revealed with the new method of eye-tracking technique. The objective gaze measurements provided contribute to the development of biomarkers enabling early diagnosis, amelioration of care and further interventions specified for each group.
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15. Kasirer A, Adi-Japha E, Mashal N. {{Verbal and Figural Creativity in Children With Autism Spectrum Disorder and Typical Development}}. {Front Psychol}. 2020; 11: 559238.
Previous studies have shown that individuals with autism spectrum disorder (ASD) demonstrate lower performance on creativity tasks. Yet, recent findings suggest that individuals with ASD are not necessarily impaired in verbal creativity, as measured by the novel metaphor generation task. The current study investigates verbal and figural creativity in 40 children with ASD (aged 11-14 years) and 39 peers with typical development (TD) (aged 11-15 years). We also tested the contribution of executive functions to the creative performance. A sentence completion questionnaire was used to test creative verbal generation, while a task of drawing non-existent objects was used to assess figural abilities. The results indicate that children with ASD generated a greater quantity of creative metaphors and showed greater use of a specific kind of representational change on the figural creativity task: cross-category insertions (e.g., a house with a tail). However, no correlation was found between the metaphor generation task and the use of cross-category insertions for either group. Results also showed that, whereas phonemic fluency contributed to the explained variance in novel metaphor generation in the ASD group, fluid intelligence, although only marginally, contributed to variance in novel metaphor generation in the TD group. These findings suggest that verbal creativity and figural creativity are two separate abilities relying on different cognitive resources. Our results show that those with ASD and TD differ in the cognitive abilities they use to perform the metaphor generation task. The research points to a unique creative cognition profile among children with ASD.
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16. Keller MA, Tharpe AM, Bodfish J. {{Remote Microphone System Use in Preschool Children With Autism Spectrum Disorder and Language Disorder in the Classroom: A Pilot Efficacy Study}}. {American journal of speech-language pathology}. 2020: 1-13.
Purpose The present pilot study aimed to provide estimates of the feasibility and efficacy of a remote microphone (RM) system as an augmentative intervention to improve the functional listening performance of preschool children with autism spectrum disorder (ASD) and language disorder. Method Eight children with ASD and language disorder participated. Efficacy of the RM system was determined by evaluating participants’ functional listening performance, as measured by an observational measure in RM-off and RM-on conditions. Responses were evaluated at the individual level using an alternating conditions design. Results Adequate feasibility was demonstrated as all participants were able to complete tasks in the RM-on condition. A subset of participants showed significant improvements in their functional listening performance in the RM-on condition, as demonstrated by visual inspection and effect sizes (nonoverlapping data points and percentage of data points exceeding the mean), indicating that there may be important sources of individual differences in responses to RM use in children with ASD. Conclusion The results of this pilot study provide support for future research on RM systems to target functional listening performance in children with ASD and language disorder.
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17. Lense MD, Beck S, Liu C, Pfeiffer R, Diaz N, Lynch M, Goodman N, Summers A, Fisher MH. {{Parents, Peers, and Musical Play: Integrated Parent-Child Music Class Program Supports Community Participation and Well-Being for Families of Children With and Without Autism Spectrum Disorder}}. {Front Psychol}. 2020; 11: 555717.
Opportunities for meaningful community participation may influence the development and well-being of individuals with autism spectrum disorder (ASD) and their families as well as impact how community members perceive and understand ASD. In the current study, we aimed to understand how a parent-child integrated music class program could be used to promote community participation and family well-being. Caregivers of preschoolers (2-5 years of age) with ASD and those of peer children with typical development (TD) were interviewed about their participation in a parent-child integrated music class program. Thematic analysis of interviews revealed that all caregivers viewed program participation as positive. Caregivers emphasized increasing connections within families, such as through strengthening parent-child bonds, as well as connections across families, including increased understanding of ASD and sensitivity to the experience of parenting. Many caregivers perceived the class as supporting their parenting and impacting their children’s behavior in meaningful ways. Interview themes were supported by measures of caregiver and child program receipt, including questionnaires about family music engagement throughout their time in the class program and behavioral coding of children’s engagement during music classes. Findings suggest that integrated community experiences such as parent-child music classes may impact whole family well-being, highlighting the value of integrated community participation experiences at the level of the family system. Parent-child music classes may provide a productive and accessible context for supporting integrated community experiences.
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18. Mason D, Capp SJ, Stewart GR, Kempton MJ, Glaser K, Howlin P, Happé F. {{A Meta-analysis of Outcome Studies of Autistic Adults: Quantifying Effect Size, Quality, and Meta-regression}}. {J Autism Dev Disord}. 2020.
Longitudinal studies have generally reported poor outcomes in adulthood for the majority of individuals (c.50-60%) with autism. Several factors putatively predict outcome (e.g. IQ), but findings remain mixed. This paper presents an updated meta-analysis of autism outcome studies and extends previous findings with additional analyses (including meta-regression). A total of 4088 records was screened and 18 studies, involving 1199 individuals, were included in the quantitative analysis. Estimated percentages indicated that 20.0% of participants were rated as having a good outcome, 26.6% a fair outcome, and 49.3% a poor outcome. Meta-regression indicated that lower IQ in adulthood was predictive of poor outcome; other meta-regression models did not survive correction for multiple comparisons. Overall, outcomes for autistic people are on average poor, and higher IQ appears to be protective against having a poor outcome. The limitations of current constructs of outcome are discussed.
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19. Mohammadi MR, Zahed G, Zarafshan H. {{Early Screening of Autism among 18 to 24 months Old Toddlers Using the Quantitative Checklist for Autism in Toddlers (Q-CHAT)}}. {Iranian journal of child neurology}. 2020; 14(4): 55-62.
OBJECTIVE: The aim of the present study was to screen the toddlers who are suspected to be autistic in their well-child visits at age 18 to 24 months via the Quantitative-Checklist for Autism in Toddlers (Q-CHAT). MATERIALS & METHODS: After the screening, the screen-positive cases were clinically assessed by a child psychiatrist and a child developmental psychologist. The total sample included 2467 toddlers; the mean total score of Q-CHAT was 30.64 (SD: 9.133). RESULT: According to the clinical examinations, 6 cases met the criteria for autism (equal to 5.8% of screen-positive cases and 0.25% of the total sample), and 18 cases had a high probability of autism or other neurodevelopmental disorders. CONCLUSION: This study showed that the toddlers who were at risk of autism could be screened in PHC. Also, Q-CHAT could be used as a screening tool in Iran.
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20. Morgan EJ, Foulsham T, Freeth M. {{Sensitivity to Social Agency in Autistic Adults}}. {J Autism Dev Disord}. 2020.
The presence of other people, whether real or implied, can have a profound impact on our behaviour. However, it is argued that autistic individuals show decreased interest in social phenomena, which leads to an absence of these effects. In this study, the agency of a cue was manipulated such that the cue was either described as representing a computer program or the eye movements of another participant. Both neurotypical and autistic participants demonstrated a social facilitation effect and were significantly more accurate on a prediction task when they believed the cue represented another participant. This demonstrates that whilst autistic adults may show difficulties in interpreting social behaviour this does not necessarily arise from a lack of sensitivity to social agency.
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21. Noel JP, Failla MD, Quinde-Zlibut JM, Williams ZJ, Gerdes M, Tracy JM, Zoltowski AR, Foss-Feig JH, Nichols H, Armstrong K, Heckers SH, Blake RR, Wallace MT, Park S, Cascio CJ. {{Visual-Tactile Spatial Multisensory Interaction in Adults With Autism and Schizophrenia}}. {Frontiers in psychiatry}. 2020; 11: 578401.
Background: Individuals with autism spectrum disorder (ASD) and schizophrenia (SZ) exhibit multisensory processing difficulties and social impairments, with growing evidence that the former contributes to the latter. However, this work has largely reported on separate cohorts, introducing method variance as a barrier to drawing broad conclusions across studies. Further, very few studies have addressed touch, resulting in sparse knowledge about how these two clinical groups may integrate somatic information with other senses. Methods: In this study, we compared adults with ASD (n = 29), SZ (n = 24), and typical developmental histories (TD, n = 37) on two tasks requiring visual-tactile spatial multisensory processing. In the first task (crossmodal congruency), participants judged the location of a tactile stimulus in the presence or absence of simultaneous visual input that was either spatially congruent or incongruent, with poorer performance for incongruence an index of spatial multisensory interaction. In the second task, participants reacted to touch in the presence or absence of dynamic visual stimuli that appeared to approach or recede from the body. Within a certain radius around the body, defined as peripersonal space (PPS), an approaching visual or auditory stimulus reliably speeds reaction times (RT) to touch; outside of this radius, in extrapersonal space (EPS), there is no multisensory effect. PPS can be defined both by its size (radius) and slope (sharpness of the PPS-EPS boundary). Clinical measures were administered to explore relations with visual-tactile processing. Results: Neither clinical group differed from controls on the crossmodal congruency task. The ASD group had significantly smaller and more sharply-defined PPSs compared to the other two groups. Small PPS size was related to social symptom severity across groups, but was largely driven by the TD group, without significant effects in either clinical group. Conclusions: These results suggest that: (1) spatially static visual-tactile facilitation is intact in adults with ASD and SZ, (2) spatially dynamic visual-tactile facilitation impacting perception of the body boundary is affected in ASD but not SZ, and (3) body boundary perception is related to social-emotional function, but not in a way that maps on to clinical status.
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22. Odent P, Creemers J, Bosmans G, D’Hooge R. {{Spectrum of social alterations in the Neurobeachin haploin sufficiency mouse model of autism}}. {Brain Res Bull}. 2020.
Autism spectrum disorder (ASD) is a common and pervasive neurodevelopmental disorder, characterized by sexually divergent social deficits. Its etiology is multifactorial with an important contribution of genetic factors. Neurobeachin (Nbea), a brain-enriched multidomain scaffolding protein, is an ASD candidate gene that was found to be translocated or deleted in ASD patients. Nbea haploinsufficient ((+/-)) mice have been proposed as an ASD mouse model, but its broad-spectrum social phenotype, sexual divergence and age-related robustness remain unstudied. This study compared one-year-old male and female Nbea(+/-) mice and their control littermates in an extensive behavioral battery that focused on social behaviors and communication. Nbea haploinsufficiency was associated with selective, sex-dependent, quantitative and qualitative changes, including alterations in social interest and approach, ultrasonic vocalization (USV) between same-sex adult conspecifics, and preferred types of social interaction. Notably, Nbea(+/-) females (but not males) displayed a significantly higher number of calls, and the mean principal frequency of their calls was higher than those of normal female littermates. Our results demonstrate that Nbea haploinsufficiency alters various aspects of social performance that are also altered in clinical ASD. The phenotype was often different between male and female mice, even though this sexual divergence was sometimes counterintuitive to observations in people with ASD, and probably influenced by differences in social interaction between male and female mice. By and large, however, this study demonstrates the clinical validity and robustness of the ASD-like phenotype of Nbea(+/-) mice.
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23. Osos JA, Plavnick JB, Avendaño SM. {{Assessing Video Enhanced Activity Schedules to Teach Social Skills to Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Social communication deficits are one of the two core characteristics demonstrated by individuals with autism spectrum disorder (ASD) and require explicit instruction as soon as the deficit is discovered. The present investigation examined the use of video-enhanced activity schedules using tablet technology for teaching social interaction to children with ASD. A multiple probe across participants design was used to teach four preschool aged participants with ASD to show something they had accomplished to peers, and to demonstrate specific social conventions when doing so. An adapted alternating treatment design was also used to compare the differential effects of video enhanced activity schedules to electronic schedules without video. Two participants acquired social skills faster in the video enhanced activity schedule condition, and the other two participants learned at a comparable rate across interventions.
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24. Park JH, Kim YS, Koh YJ, Leventhal BL. {{Differences in the Severity and Variability of Restricted and Repetitive Behaviors in ASD Children With and Without Service Experiences}}. {Res Autism Spectr Disord}. 2020; 79.
BACKGROUND: Despite the importance of restricted and repetitive behaviors (RRBs) in diagnosing autism spectrum disorder (ASD), specific RRBs that distinguish children with ASD who are receiving services from those who have ASD but are unidentified and untreated until school age remain unclear. This study examined the differences in the severity and variability of RRBs among three groups (ASD with service experiences [ASDws], ASD without service experiences [ASDwos], and No ASD) and investigated specific RRBs predicting group membership. METHOD: A total of 296 children who screened positive for ASD completed confirmative diagnostic assessments. The severity and variability scores of RRBs were obtained using 16 items of the Autism Diagnostic Interview-Revised. RESULTS: Both ASD groups had higher proportions of children with severe RRBs for the majority of RRBs and exhibited a greater number of RRBs than the No ASD group. However, discrepancies between the ASDwos and the No ASD groups were not as apparent as those between the ASDws and the No ASD groups. RRBs characterized by a repetitive motor/physical component and unusual sensory responses differentiated the ASDws group from the ASDwos group. Conversely, RRBs characterized by rigid adherence to routine, and ritualistic behavior increased the odds of membership in the ASDwos group over the No ASD group. CONCLUSIONS: Our results may improve the ability of clinicians and parents to detect ASD in the community by observing specific RRBs, especially in cognitively intact school-aged children who show significant compulsive/ritualistic behaviors and rigidity to routines/sameness RRBs, even in the absence of multiple RRBs or severe repetitive sensorimotor behaviors.
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25. Pau P, Westphalen M. {{Copper deficiency myelopathy and autism spectrum disorder}}. {Journal of paediatrics and child health}. 2020.
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26. Pino MC, Vagnetti R, Masedu F, Attanasio M, Tiberti S, Valenti M, Mazza M. {{Mapping the Network of Social Cognition Domains in Children With Autism Spectrum Disorder Through Graph Analysis}}. {Frontiers in psychiatry}. 2020; 11: 579339.
Children with autism spectrum disorder (ASD) are characterized by difficulties in social cognition (SC) domains. The aim of this study is to build an SC network to explore associations among interacting elements within this cognitive construct. We used a graph analysis to explain how individual SC domains relate to each other and how these relations may differ between ASD and typically developing (TD) groups. Seventy-six children with ASD and 81 TD children, matched for verbal mental age, were subjected to three SC measures. Our results showed that TD children exhibited an SC network characterized by a single domain (i.e., social cognition), while children with ASD demonstrated communicating node communities where social information processing measured by the Social Information Processing Interview (SIPI) represents a key point in understanding network differences between groups.
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27. Pinto C, Pinto S. {{Care workers of people with intellectual and developmental disabilities feel the need for soft skills training to accomplish better palliative care deliverance}}. {Evidence-based nursing}. 2020.
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28. Rahbar MH, Samms-Vaughan M, Lee M, Zhang J, Hessabi M, Bressler J, Bach MA, Grove ML, Shakespeare-Pellington S, Beecher C, McLaughlin W, Loveland KA. {{Interaction between a Mixture of Heavy Metals (Lead, Mercury, Arsenic, Cadmium, Manganese, Aluminum) and GSTP1, GSTT1, and GSTM1 in Relation to Autism Spectrum Disorder}}. {Res Autism Spectr Disord}. 2020; 79.
BACKGROUND: Exposure to many environmental chemicals, including metals, often does not occur in isolation, hence requires assessment of the associations between exposure to mixtures of chemicals and human health. OBJECTIVES: To investigate associations of a metal mixture of lead (Pb), mercury (Hg), arsenic (As), cadmium (Cd), manganese (Mn), and aluminum (Al) in children with autism spectrum disorder (ASD), additively or interactively with each of three glutathione S-transferase (GST) genes (GSTP1, GSTT1, and GSTM1). METHOD: Using data from 266 case-control pairs of Jamaican children (2-8 years old), we fitted negative and positive generalized weighted quantile sum (gWQS) regression models to assess the aforementioned associations. RESULTS: Based on additive and interactive negative gWQS models adjusted for maternal age, parental education, child’s parish, and seafood consumption, we found inverse associations of the overall mixture score with ASD [MOR (95% CI): 0.70 (0.49, 0.99); P < 0.05) and [MOR (95%CI): 0.46 (0.25, 0.84); P = 0.01], respectively. In an unadjusted negative gWQS model, we found a marginally significant interaction between GSTP1 and a mixture of three metals (Pb, Hg, and Mn) (P = 0.07) while the association was no longer significant after adjustment for the same covariates (P = 0.24). CONCLUSIONS: Differences in diet between ASD and control groups may play a role in the inverse associations we found. The possible interactive association between Mn and GSTP1 in ASD based on gWQS is consistent with our previous reports. However, possible interaction of GSTP1 with Pb and Hg in ASD requires further investigation and replication. Lien vers le texte intégral (Open Access ou abonnement)
29. Rajaratnam A, Potter LA, Biag HMB, Schneider A, Petrasic IC, Hagerman RJ. {{Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment}}. {Frontiers in neurology}. 2020; 11: 581429.
Given significant genetic, molecular, and phenotypic overlaps, researchers have begun to investigate whether targeted treatments for Fragile X Syndrome (FXS) could also be beneficial for patients with Autism Spectrum Disorder (ASD). For example, low-dose sertraline, an SSRI, was used in two recent controlled trials in children with FXS and ASD. The first trial recruited 52 children with FXS, 32 of which were also diagnosed with ASD; the second trial recruited 58 children with non-syndromic ASD. One focus of the present study is to compare the response to sertraline between the FXS-associated ASD and non-syndromic ASD groups. Another focus is to compare baseline ASD-related characteristics between the groups and review these differences within the context of recent literature comparing these populations. Our comparison showed more severe ASD profiles in children with non-syndromic ASD vs. FXS-associated ASD. Regarding response to sertraline, the FXS-ASD group displayed significant improvements in language development, while the non-syndromic group did not show any significant improvements. One possible explanation for this differential response is the distinct anxiety profiles that are seen in these two groups. The heightened anxiety phenotype seen in those with FXS-ASD may have led to a greater relief of anxiety symptoms with sertraline compared to those with non-syndromic ASD; this, in turn, could have led to measurably greater developmental gains. Further research is required to solidify this connection between anxiety relief and developmental gains in these populations.
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30. Rucco R, Bernardo P, Lardone A, Baselice F, Pesoli M, Polverino A, Bravaccio C, Granata C, Mandolesi L, Sorrentino G, Sorrentino P. {{Neuronal Avalanches to Study the Coordination of Large-Scale Brain Activity: Application to Rett Syndrome}}. {Front Psychol}. 2020; 11: 550749.
Many complex systems, such as the brain, display large-scale coordinated interactions that create ordered patterns. Classically, such patterns have been studied using the framework of criticality, i.e., at a transition point between two qualitatively distinct patterns. This kind of system is generally characterized by a scale-invariant organization, in space and time, optimally described by a power-law distribution whose slope is quantified by an exponent α. The dynamics of these systems is characterized by alternating periods of activations, called avalanches, with quiescent periods. To maximize its efficiency, the system must find a trade-off between its stability and ease of propagation of activation, which is achieved by a branching process. It is quantified by a branching parameter σ defined as the average ratio between the number of activations in consecutive time bins. The brain is itself a complex system and its activity can be described as a series of neuronal avalanches. It is known that critical aspects of brain dynamics are modeled with a branching parameter σ = , and the neuronal avalanches distribution fits well with a power law distribution exponent α = -3/2. The aim of our work was to study a self-organized criticality system in which there was a change in neuronal circuits due to genetic causes. To this end, we have compared the characteristics of neuronal avalanches in a group of 10 patients affected by Rett syndrome, during an open-eye resting-state condition estimated using magnetoencephalography, with respect to 10 healthy subjects. The analysis was performed both in broadband and in the five canonical frequency bands. We found, for both groups, a branching parameter close to 1. In this critical condition, Rett patients show a lower distribution parameter α in the delta and broadband. These results suggest that the large-scale coordination of activity occurs to a lesser extent in RTT patients.
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31. Sefen JAN, Al-Salmi S, Shaikh Z, AlMulhem JT, Rajab E, Fredericks S. {{Beneficial Use and Potential Effectiveness of Physical Activity in Managing Autism Spectrum Disorder}}. {Frontiers in behavioral neuroscience}. 2020; 14: 587560.
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by poor social and communication skills. Therapeutic interventions are behavioral and educational-normally delivered as structured programs. Several well-established programs exist and most of them do not incorporate physical activity and exercise as core elements. Deficiencies in motor skills are associated with ASD and physical activity has been shown to reduce maladaptive behaviors with autistics. However, the notion of exercise being employed to manage autism is controversial. Meta-analysis and systematic reviews have concluded that physical activity has positive effects on social skills and behavior in young children and adolescents with autism. Activities such as martial arts have been singled out as being particularly beneficial. Established programs such as TEACCH have been successfully modified, as research trials, to be more physical activity-based and have shown positive results. Studies have also reinforced the importance of the role of parental involvement in delivering programs based on physical activity. There is a paucity of research evidence about the long-term effects of physical activity-based interventions. There is also disparity over the detailed nature of the activities and exercises that compose an effective program. Each person with autism has a highly individualized set of symptoms and characteristics for which highly individualized programs are warranted. This is especially true for physical activity programs.
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32. Shilubane H, Mazibuko N. {{Understanding autism spectrum disorder and coping mechanism by parents: An explorative study}}. {International journal of nursing sciences}. 2020; 7(4): 413-8.
OBJECTIVE: This study aimed to explore the perceptions of parents of children with autism spectrum disorder (ASD) and their coping strategies. METHODS: The data of the study was collected using face-to-face semi-structured interviews. The participants were purposefully selected from the three schools in Mpumalanga Province because they had children diagnosed with ASD and data was analyzed using thematic content analysis. In this study, primary caregivers were selected. In the end, 12 women were interviewed, and the data saturation was reached. Ethical considerations and measures to ensure trustworthiness were carried out throughout the study. RESULTS: The findings revealed two themes: caregivers’ understanding and misconceptions of ASD and coping mechanisms used in dealing challenges of caring for a child with ASD; and five subthemes: lack of knowledge, cultural beliefs, prayer, strong support system, and acceptance. CONCLUSION: Based on the findings, more awareness campaigns should be done on ASD to increase parents’ understanding of the condition. Understanding the cultural beliefs of parents regarding ASD may assist health care professionals in developing care practices that are accepted in their culture, and may enhance parents’ coping skills.
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33. Silver BM, Conte MM, Victor JD, Jones RM. {{Visual Search for Circumscribed Interests in Autism Is Similar to That of Neurotypical Individuals}}. {Front Psychol}. 2020; 11: 582074.
Intense interests are a core symptom of autism spectrum disorders (ASD) and can be all-encompassing for affected individuals. This observation raises the hypothesis that intense interests in ASD are related to pervasive changes in visual processing for objects within that category, including visual search. We assayed visual processing with two novel tasks, targeting category search and exemplar search. For each task, three kinds of stimuli were used: faces, houses, and images personalized to each participant’s interest. 25 children and adults with ASD were compared to 25 neurotypical (NT) children and adults. We found no differences in either visual search task between ASD and NT controls for interests. Thus, pervasive alterations in perception are not likely to account for ASD behavioral symptoms.
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34. Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D. {{Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis}}. {Epilepsia}. 2020.
OBJECTIVE: Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta-analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next-generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology. METHODS: We performed a systematic review of the PubMed literature until May 2020. We included clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Data were extracted, reviewed, and categorized according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Two investigators performed clinical evaluation and grouping following the International League Against Epilepsy (ILAE) guidelines. Pooled rates of the diagnostic yield and 95% confidence intervals were estimated with a random-effects model. RESULTS: We identified 103 studies (epilepsy, N = 72; ASD, N = 14; ID, N = 21) across 32,331 individuals. Targeted gene panel sequencing was used in 73, and exome sequencing in 36 cohorts. Given highly selected patient cohorts, the diagnostic yield was 17.1% for ASD, 24% for epilepsy, and 28.2% for ID (23.7% overall). The highest diagnostic yield for epilepsy subtypes was observed in individuals with ID (27.9%) and early onset seizures (36.8%). The diagnostic yield for exome sequencing was higher than for panel sequencing, even though not statistically significant (27.2% vs 22.6%, P = .071). We observed that clinical sequencing studies are performed predominantly in countries with a high Inequality-adjusted Human Development Index (IHDI) (countries with sequencing studies: IHDI median = 0.84, interquartile range [IQR] = 0.09 vs countries without sequencing studies: IHDI median = 0.56, IQR = 0.3). No studies from Africa, India, or Latin America were identified, indicating potential barriers to genetic testing. SIGNIFICANCE: This meta-analysis and systematic review provides a comprehensive overview of clinical sequencing studies of NDDs and will help guide policymaking and steer decision-making in patient management.
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35. Suliman-Lavie R, Title B, Cohen Y, Hamada N, Tal M, Tal N, Monderer-Rothkoff G, Gudmundsdottir B, Gudmundsson KO, Keller JR, Huang GJ, Nagata KI, Yarom Y, Shifman S. {{Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice}}. {Nat Commun}. 2020; 11(1): 5836.
Several genes implicated in autism spectrum disorder (ASD) are chromatin regulators, including POGZ. The cellular and molecular mechanisms leading to ASD impaired social and cognitive behavior are unclear. Animal models are crucial for studying the effects of mutations on brain function and behavior as well as unveiling the underlying mechanisms. Here, we generate a brain specific conditional knockout mouse model deficient for Pogz, an ASD risk gene. We demonstrate that Pogz deficient mice show microcephaly, growth impairment, increased sociability, learning and motor deficits, mimicking several of the human symptoms. At the molecular level, luciferase reporter assay indicates that POGZ is a negative regulator of transcription. In accordance, in Pogz deficient mice we find a significant upregulation of gene expression, most notably in the cerebellum. Gene set enrichment analysis revealed that the transcriptional changes encompass genes and pathways disrupted in ASD, including neurogenesis and synaptic processes, underlying the observed behavioral phenotype in mice. Physiologically, Pogz deficiency is associated with a reduction in the firing frequency of simple and complex spikes and an increase in amplitude of the inhibitory synaptic input in cerebellar Purkinje cells. Our findings support a mechanism linking heterochromatin dysregulation to cerebellar circuit dysfunction and behavioral abnormalities in ASD.
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36. Tong Z, Zhou Y, Wang J. {{Identification and Functional Analysis of Long Non-coding RNAs in Autism Spectrum Disorders}}. {Front Genet}. 2020; 11: 849.
Genetic and environmental factors, alone or in combination, contribute to the pathogenesis of autism spectrum disorder (ASD). Although many protein-coding genes have now been identified as disease risk genes for ASD, a detailed illustration of long non-coding RNAs (lncRNAs) associated with ASD remains elusive. In this study, we first identified ASD-related lncRNAs based on genomic variant data of individuals with ASD from a twin study. In total, 532 ASD-related lncRNAs were identified, and 86.7% of these ASD-related lncRNAs were further validated by an independent copy number variant (CNV) dataset. Then, the functions and associated biological pathways of ASD-related lncRNAs were explored by enrichment analysis of their three different types of functional neighbor genes (i.e., genomic neighbors, competing endogenous RNA (ceRNA) neighbors, and gene co-expression neighbors in the cortex). The results have shown that most of the functional neighbor genes of ASD-related lncRNAs were enriched in nervous system development, inflammatory responses, and transcriptional regulation. Moreover, we explored the differential functions of ASD-related lncRNAs in distinct brain regions by using gene co-expression network analysis based on tissue-specific gene expression profiles. As a set, ASD-related lncRNAs were mainly associated with nervous system development and dopaminergic synapse in the cortex, but associated with transcriptional regulation in the cerebellum. In addition, a functional network analysis was conducted for the highly reliable functional neighbor genes of ASD-related lncRNAs. We found that all the highly reliable functional neighbor genes were connected in a single functional network, which provided additional clues for the action mechanisms of ASD-related lncRNAs. Finally, we predicted several potential drugs based on the enrichment of drug-induced pathway sets in the ASD-altered biological pathway list. Among these drugs, several (e.g., amoxapine, piperine, and diflunisal) were partly supported by the previous reports. In conclusion, ASD-related lncRNAs participated in the pathogenesis of ASD through various known biological pathways, which may be differential in distinct brain regions. Detailed investigation into ASD-related lncRNAs can provide clues for developing potential ASD diagnosis biomarkers and therapy.
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37. Tromp A, Mowry B, Giacomotto J. {{Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions}}. {Mol Psychiatry}. 2020.
Mutations in the family of neurexins (NRXN1, NRXN2 and NRXN3) have been repeatedly identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ). However, it remains unclear how these DNA variants affect neurexin functions and thereby predispose to these neurodevelopmental disorders. Understanding both the wild-type and pathologic roles of these genes in the brain could help unveil biological mechanisms underlying mental disorders. In this regard, numerous studies have focused on generating relevant loss-of-function (LOF) mammalian models. Although this has increased our knowledge about their normal functions, the potential pathologic role(s) of these human variants remains elusive. Indeed, after reviewing the literature, it seems apparent that a traditional LOF-genetic approach based on complete LOF might not be sufficient to unveil the role of these human mutations. First, these genes present a very complex transcriptome and total-LOF of all isoforms may not be the cause of toxicity in patients, particularly given evidence that causative variants act through haploinsufficiency. Moreover, human DNA variants may not all lead to LOF but potentially to intricate transcriptome changes that could also include the generation of aberrant isoforms acting as a gain-of-function (GOF). Furthermore, their transcriptomic complexity most likely renders them prone to genetic compensation when one tries to manipulate them using traditional site-directed mutagenesis approaches, and this could act differently from model to model leading to heterogeneous and conflicting phenotypes. This review compiles the relevant literature on variants identified in human studies and on the mouse models currently deployed, and offers suggestions for future research.
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38. Wagener GL, Berning M, Costa AP, Steffgen G, Melzer A. {{Effects of Emotional Music on Facial Emotion Recognition in Children with Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord}. 2020.
Impaired facial emotion recognition in children with Autism Spectrum Disorder (ASD) is in contrast to their intact emotional music recognition. This study tested whether emotion congruent music enhances facial emotion recognition. Accuracy and reaction times were assessed for 19 children with ASD and 31 controls in a recognition task with angry, happy, or sad faces. Stimuli were shown with either emotionally congruent or incongruent music or no music. Although children with ASD had higher reaction times than controls, accuracy only differed when incongruent or no music was played, indicating that congruent emotional music can boost facial emotion recognition in children with ASD. Emotion congruent music may support emotion recognition in children with ASD, and thus may improve their social skills.
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39. Zhang M, Liu Z, Ma H, Smith DM. {{Chronic Physical Activity for Attention Deficit Hyperactivity Disorder and/or Autism Spectrum Disorder in Children: A Meta-Analysis of Randomized Controlled Trials}}. {Frontiers in behavioral neuroscience}. 2020; 14: 564886.
Purpose: To explore the effects of physical activity (PA) intervention on executive function (EF) and motor skills (MS) among children with attention deficit hyperactivity disorder and/or autism spectrum disorder (ASD). Methods: Relevant studies were sourced from PubMed, Web of Science, EMBASE, Cochrane Library, CNKI and Wanfang Data. Only randomized controlled trials (RCT) were included based upon the following criteria: (1) participants were children and clinically diagnosed with ADHD/ASD, (2) intervention strategies were identified as chronic physical activity, and (3) EF (e.g., cognitive flexibility) and/or MS (e.g., gross motor skills) were measured at baseline and post-intervention and compared with an eligible control group. Results: Eleven studies involving 346 participants were finally identified. PA elicited significant improvements in EF and MS in children with ADHD/ASD. Regarding changes in the EF of participants, PA showed a great improvement in overall EF [standardized mean difference (SMD): 0.90, 95% confidence interval (CI) 0.49-1.30, p < 0.00001], inhibitory control (SMD: 1.30, 95% CI 0.58-2.02, p = 0.0004) and cognitive flexibility (SMD: 0.85, 95% CI 0.42-1.29, p = 0.0001), but no significant improvement in working memory (SMD: 0.28, 95% CI -0.15-0.71, p = 0.20). Significant improvements were also found with respect to gross motor skills (SMD: 0.80, 95% CI 0.30-1.30, p = 0.002), but no significant changes were found in fine motor skills (SMD: 0.30, 95% CI -0.91-1.52, p = 0.62). Conclusion: Chronic PA interventions may promote EF and MS in children with ADHD/ASD, especially in inhibitory control, cognitive flexibility, and gross motor skills. However, PA interventions seemed to have insignificant effects on working memory and fine motor skills to children with ADHD/ASD. PROSPERO registration number: CRD42019118622. Lien vers le texte intégral (Open Access ou abonnement)
