1. Ansari S, Hosseinkhanzadeh AA, AdibSaber F, Shojaei M, Daneshfar A. {{The Effects of Aquatic Versus Kata Techniques Training on Static and Dynamic Balance in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
The present study aimed to compare the effect of a land-based and a swimming-based exercise program on balance abilities in children with autism. Thirty children were voluntarily selected and randomly assigned to karate exercise, aquatic training and control groups. Participants practiced for 10 weeks, 2 sessions of 60 min per week. Before and after the 10-week intervention, static and dynamic balance tests were administered. The results showed that both interventions had a significant effect on balance abilities (p < 0.001); interestingly, we found the greater improvement in balance performance in kata techniques group. Due to the importance of balance performance on daily functions, communication and interaction skills, karate and swimming exercises can be the valuable interventions added to autism's daily programs. Iranian Registry of Clinical Trials number: IRCT20180626040242N1. Lien vers le texte intégral (Open Access ou abonnement)
2. Araten-Bergman T, Shpigelman CN. {{Staying connected during COVID-19: Family engagement with adults with developmental disabilities in supported accommodation}}. {Res Dev Disabil}. 2020; 108: 103812.
BACKGROUND: Enduring family engagement and informal support is crucial to the health and well-being of adults with developmental disabilities (DD) residing in supported accommodation. The COVID-19 pandemic and restrictive measures enforced in residential settings have resulted in changes in daily routine and modified the ways families can interact with and provide support to residents. Yet, the impact of these changes has not been empirically explored. AIM: Explore how family caregivers have interacted with and supported their relatives with DD residing in supported accommodation during the pandemic. METHODS: Changes in frequencies of communication modes and types of informal support were measured through a cross-sectional and anonymous online survey which completed by 108 family caregivers of adults with DD. RESULTS: Most family caregivers adopted remote communication technologies; however, these were not perceived to be effective in filling the gap created by reduced face-to-face contact. While families were able to provide emotional support and advocacy using digital technologies, they were limited in their ability to provide significant social support. CONCLUSIONS: Findings may help key stakeholders develop and implement novel strategies and policies to accommodate the changing circumstances and to ensure continuity of family engagement and informal support in the context of COVID-19.
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3. 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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4. 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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5. Chen H, Long J, Yang S, He B. {{Atypical Functional Covariance Connectivity Between Gray and White Matter in Children With Autism Spectrum Disorder}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is a type of neurodevelopmental disorder with atypical gray matter (GM) and white matter (WM) functional developmental course. However, the functional co-developmental pattern between GM and WM in ASD is unclear. Here, we utilized a functional covariance connectivity method to explore the concordance pattern between GM and WM function in individuals with ASD. A multi-center resting-state fMRI dataset composed of 105 male children with ASD and 102 well-matched healthy controls (HCs) from six sites of the ABIDE dataset was utilized. GM and WM ALFF maps were calculated for each subject. Voxel by voxel functional covariance connectivity of the ALFF values across subjects was calculated between GM and WM for children with ASD and HCs. A Z-test combining FDR multi-comparison correction was then employed to determine whether the functional covariance is significantly different between the two groups. A « bundling » strategy was utilized to ensure that the GM/WM clusters showing atypical functional covariance were larger than 5 voxels. Finally, canonical correlation analysis was conducted to explore whether the atypical GM/WM functional covariance is related to ASD symptoms. Results showed atypical functional covariance connections between specific GM and WM regions, whereas the ALFF values of these regions indicated no significant difference between the two groups. Canonical correlation analysis revealed a significant relationship between the atypical functional covariance and stereotyped behaviors of ASD. The results indicated an altered functional co-developmental pattern between WM and GM in ASD. LAY SUMMARY: White matter (WM) and gray matter (GM) are two major human brain organs supporting brain function. WM and GM functions show a specific co-developmental pattern in typical developed individuals. This study showed that this GM/WM co-developmental pattern was altered in children with ASD, while this altered GM/WM co-developmental pattern was related to stereotyped behaviors. These findings may help understand the GM/WM functional development of ASD.
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6. Clin E, Maes P, Stercq F, Kissine M. {{No preference for direct versus averted gaze in autistic adults: a reinforced preferential looking paradigm}}. {Mol Autism}. 2020; 11(1): 91.
BACKGROUND: With the overarching objective to gain better insights into social attention in autistic adults, the present study addresses three outstanding issues about face processing in autism. First, do autistic adults display a preference for mouths over eyes; second, do they avoid direct gaze; third, is atypical visual exploration of faces in autism mediated by gender, social anxiety or alexithymia? METHODS: We used a novel reinforced preferential looking paradigm with a group of autistic adults (n = 43, 23 women) pairwise matched on age with neurotypical participants (n = 43, 21 women). Participants watched 28 different pairs of 5 s video recordings of a speaking person: the two videos, simultaneously displayed on the screen, were identical except that gaze was directed at the camera in one video and averted in the other. After a 680 ms transition phase, a short reinforcement animation appeared on the side that had displayed the direct gaze. RESULTS: None of the groups showed a preference for mouths over eyes. However, neurotypical participants fixated significantly more the stimuli with direct gaze, while no such preference emerged in autistic participants. As the experiment progressed, neurotypical participants also increasingly anticipated the appearance of the reinforcement, based on the location of the stimulus with the direct gaze, while no such anticipation emerged in autistic participants. LIMITATIONS: Our autistic participants scored higher on the social anxiety and alexithymia questionnaires than neurotypicals. Future studies should match neurotypical and autistic participants on social anxiety and alexithymia and complement questionnaires with physiological measures of anxiety. CONCLUSIONS: The absence of preference for direct versus averted gaze in the autistic group is probably due to difficulties in distinguishing eye gaze direction, potentially linked to a reduced spontaneous exploration or avoidance of the eye region. Social attention and preference for direct versus averted gaze correlated with alexithymia and social anxiety scores, but not gender.
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7. Dahan A, Dubnov YA, Popkov AY, Gutman I, Probolovski HG. {{Brief Report: Classification of Autistic Traits According to Brain Activity Recoded by fNIRS Using ε-Complexity Coefficients}}. {J Autism Dev Disord}. 2020.
Individuals with ASD have been shown to have different pattern of functional connectivity. In this study, brain activity of participants with many and few autistic traits, was recorded using an fNIRS device, as participants preformed an interpersonal synchronization task. This type of task involves synchronization and functional connectivity of different brain regions. A novel method for assessing signal complexity, using ε-complexity coefficients, applied for the first i.e. on fNIRS recording, was used to classify brain recording of participants with many/few autistic traits. Successful classification was achieved implying that this method may be useful for classification of fNIRS recordings and that there is a difference in brain activity between participants with low and high autistic traits as they perform an interpersonal synchronization task.
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8. 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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9. 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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10. Holland CM, Blanche EI, Thompson BL. {{Quantifying Therapists’ Activities during Sensory Integration Treatment for Young Children with Autism}}. {Phys Occup Ther Pediatr}. 2020: 1-16.
AIMS: There is limited research on the type and quantity of actions (activities) occupational therapy practitioners utilize when providing sensory integration treatment to children with Autism Spectrum Disorders (ASD). METHODS: A coding scheme identifying specific aspects of sensory integration treatment was developed and used to analyze 34 videos of 9 children with ASD, aged between 18 and 56 months, treated by 8 occupational therapists. Occupational therapists providing sensory integration treatment to children with ASD were behaviorally coded and rated using Observer XT, a software package designed for analysis of behavioral processes. RESULTS: Verbal communications, including offers, positive commands, and feedback, to facilitate engagement were the most frequent actions enacted by therapists. Proprioceptive activities were the most frequent sensory opportunities presented. Therapists received high ratings for sensitivity qualities. CONCLUSIONS: The number of sensory opportunities and interactions the therapists provided suggest concordance with sensory integration treatment components in the clinical setting. General impression ratings indicate engagement between child and therapist may be an important aspect of sensory integration treatment for young children with ASD. Quantification of therapists’ actions can provide insight into the moment-to-moment decision-making and relationships between therapist and child during daily practice of sensory integration treatment.
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11. Hosozawa M, Cable N, Ikeda A, Dong JY, Ikehara S, Iso H. {{Risk of postpartum depression and very early child mistreatment among mothers reporting higher autistic traits: Evidence from the Japan Environment and Children’s Study}}. {Journal of affective disorders}. 2020; 280(Pt A): 11-6.
BACKGROUND: Little is known about how mothers who report higher autistic traits face new parenthood. This study examined the association between antenatal non-clinical autistic traits and the risks of both postpartum depression (PPD) and child mistreatment at one-month postpartum and if these associations were mediated by preexisting social support. METHODS: Participants included 73,532 singleton mothers without histories of psychiatric conditions from the Japan Environment and Children’s Study, a nationwide birth cohort. Autistic traits were measured during the second/third trimesters using the short-version of the Autism Quotient-Japanese version. Participants were classified into three groups (i.e., typical-range, moderate-range, and high-range). PPD was measured using the Japanese version of the Edinburgh Postnatal Depression Scale, while participants self-reported experiences of child mistreatment (i.e., hit or shake the child); both assessments were conducted at one-month postpartum. Individual social support was reported during pregnancy. Data analyses were conducted through Poisson regressions. RESULTS: A total of 7,147 (9.7%) participants reported PPD, while 12,994 (17.7%) reported child mistreatment at one-month postpartum. Autistic traits were associated with increased PPD risk (adjusted-relative risk [aRR] =1.74, 95%CI=1.64-1.84 for moderate-range; aRR=2.33, 2.13-2.55 for high-range) and child mistreatment (aRR=1.19, 1.13-1.24 for moderate-range; aRR=1.39, 1.28-1.50 for high-range) independently of confounders. Social support mediated 26-31% of these associations for moderate/high-range groups (both risks). LIMITATIONS: Self-reported measurements were used. CONCLUSIONS: Mothers who reported moderate-to-high autistic traits in the general population were vulnerable to PPD and newborn mistreatment at one-month postpartum, which was partially explained by the lack of social support during pregnancy.
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12. 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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13. Kim SY, Song DY, Kim YA, Bong G, Kim JM, Kim JH, Yoo HJ. {{How Do Children with Autism Spectrum Disorder Encode and Reproduce Visuospatial Stimuli?: Investigation into Visuospatial Processing Abilities and Styles}}. {Psychiatry investigation}. 2020.
OBJECTIVE: The purpose of this study was to examine the visuospatial processing abilities of children with autism spectrum disorder (ASD) using the Rey Osterrieth Complex Figure (ROCF). METHODS: One-hundred thirty-four children with ASD [mean age (MA)=113.56 months], 150 siblings of children with ASD (MA= 111.67 months), and 55 typically developing (TD) children (MA=109.02 months) were included in this study. During their one-time visit, participants completed the ROCF, various autism diagnostic assessments, and the Korean-Leiter International Performance ScaleRevised. Repeated-measures Analysis of Covariance (ANCOVA) and post-hoc Tukey-Kramer comparisons were computed to compare the ROCF scores. Partial correlations and multiple regressions were computed to examine the association between ROCF scores and the severity of autistic symptoms, as measured by the Autism Diagnostic Interview-Revised (ADI-R) among children with ASD. RESULTS: There were significant main effects of the analysis group in Structural and Incidental Accuracy, Error, and Style. More siblings than TD children drew in a part-oriented way, but the performance of the sibling group was comparable or superior to that of the TD group in all parameters. Social Interaction scores of children with ASD were significantly associated with Organization scores in Copy condition. Whether or not a child drew in the Part-Oriented style significantly predicted his/her repetitive and restricted behavior scores. CONCLUSION: The findings add to the evidence for altered visuospatial processing patterns of ASD as a potential inherent and genetic trait and suggest that this particular cognitive style should not be considered as a deficit. Educational and theoretical implications are discussed.
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14. Kotila A, Järvelä M, Korhonen V, Loukusa S, Hurtig T, Ebeling H, Kiviniemi V, Raatikainen V. {{Atypical Inter-Network Deactivation Associated With the Posterior Default-Mode Network in Autism Spectrum Disorder}}. {Autism Res}. 2020.
Previous studies have suggested that atypical deactivation of functional brain networks contributes to the complex cognitive and behavioral profile associated with autism spectrum disorder (ASD). However, these studies have not considered the temporal dynamics of deactivation mechanisms between the networks. In this study, we examined (a) mutual deactivation and (b) mutual activation-deactivation (i.e., anticorrelated) time-lag patterns between resting-state networks (RSNs) in young adults with ASD (n = 20) and controls (n = 20) by applying the recently defined dynamic lag analysis (DLA) method, which measures time-lag variations peak-by-peak between the networks. In order to achieve temporally accurate lag patterns, the brain imaging data was acquired with a fast functional magnetic resonance imaging (fMRI) sequence (TR = 100 ms). Group-level independent component analysis was used to identify 16 RSNs for the DLA. We found altered mutual deactivation timings in ASD in (a) three of the deactivated and (b) two of the transiently anticorrelated (activated-deactivated) RSN pairs, which survived the strict threshold for significance of surrogate data. Of the significant RSN pairs, 80% included the posterior default-mode network (DMN). We propose that temporally altered deactivation mechanisms, including timings and directionality, between the posterior DMN and RSNs mediating processing of socially relevant information may contribute to the ASD phenotype. LAY SUMMARY: To understand autistic traits on a neural level, we examined temporal fluctuations in information flow between brain regions in young adults with autism spectrum disorder (ASD) and controls. We used a fast neuroimaging procedure to investigate deactivation mechanisms between brain regions. We found that timings and directionality of communication between certain brain regions were temporally altered in ASD, suggesting atypical deactivation mechanisms associated with the posterior default-mode network.
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15. Mansour Y, Ahmed SN, Kulesza R. {{Abnormal morphology and subcortical projections to the medial geniculate in an animal model of autism}}. {Experimental brain research}. 2020.
Auditory dysfunction, including hypersensitivity and tinnitus, is a common symptom of autism spectrum disorder (ASD). Prenatal exposure to the antiseizure medication valproic acid (VPA) significantly increases the risk of ASD in humans and similar exposure is utilized as an animal model of ASD in rodents. Animals exposed to VPA in utero have abnormal activity in their auditory cortex in response to sounds, fewer neurons, abnormal neuronal morphology, reduced expression of calcium-binding proteins, and reduced ascending projections to the central nucleus of the inferior colliculus. Unfortunately, these previous studies of central auditory circuits neglect the medial geniculate (MG), which serves as an important auditory relay from the midbrain to the auditory cortex. Here, we examine the structure and connectivity of the medial geniculate (MG) in rats prenatally exposed to VPA. Our results indicate that VPA exposure results in significantly smaller and fewer neurons in the ventral and medial nuclei of the MG. Furthermore, injections of the retrograde tract tracer fluorogold (FG) in the MG result in significantly fewer FG+ neurons in the inferior colliculus, superior olivary complex, and ventral cochlear nucleus. Together, we interpret these findings to indicate that VPA exposure results in hypoplasia throughout the auditory circuits and that VPA has a differential impact on some long-range axonal projections from brainstem centers to the thalamus. Together, our findings support the widespread impact of VPA on neurons and sensory circuits in the developing brain.
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16. 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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17. Mingins JE, Tarver J, Waite J, Jones C, Surtees AD. {{Anxiety and intellectual functioning in autistic children: A systematic review and meta-analysis}}. {Autism}. 2020: 1362361320953253.
Autistic children often experience higher levels of anxiety than their peers. It can be difficult to diagnose and treat anxiety disorders in autistic children, in part because of the high degree of variability in their underlying abilities and presentations. Some evidence suggests that autistic children with higher intelligence (as measured by intelligence quotient) experience higher levels of anxiety than autistic children with lower intelligence. However, the evidence is inconsistent, with other papers not finding a difference or finding higher levels of anxiety in autistic children with lower intelligence. In this article, we review existing literature to see whether autistic children with higher intelligence quotients have higher anxiety than autistic children with lower intelligence quotients. A systematic search of the literature was conducted which identified 49 papers on the topic. The methods of all the papers were reviewed using an objective quality assessment framework. When combining the data statistically, there was evidence that autistic children with higher intelligence quotients are more anxious than autistic children with lower intelligence quotients. The quality review raised common weaknesses across studies. Most importantly, few studies used measures of anxiety that have been shown to be valid for children with very low intelligence quotients. Similarly, many studies used measures of anxiety that have not been shown to be valid for autistic children. These factors are important because autistic children and those with low intelligence quotient may experience or understand anxiety differently. Future research should use fully validated measures to test whether high intelligence quotient is associated with high levels of anxiety in autistic children.
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18. 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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19. Northrup JB, Leezenbaum NB, Campbell SB. {{Observed Social Emotional Behavior at 22 Months Predicts a Later ASD Diagnosis in High-Risk Siblings}}. {J Autism Dev Disord}. 2020.
Social engagement, pretend play, and concern for another’s distress represent fundamental features of typical social-emotional development in the second year. Children with autism spectrum disorder (ASD) display delays and deficits in these areas, and research on toddlers at heightened risk for ASD (HR; younger siblings of children with ASD) indicates these deficits may be apparent in toddlerhood. Prior research has examined these aspects of social-emotional development individually in HR toddlers. The present paper examines them jointly as predictors of ASD. We show that social engagement, pretend play, and empathic concern at 22-months each contribute uniquely to predicting later ASD diagnosis with high specificity and moderate sensitivity. Results have important implications for early diagnosis and intervention in young children with ASD.
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20. Påhlman M, Gillberg C, Himmelmann K. {{Autism and attention-deficit/hyperactivity disorder in children with cerebral palsy: high prevalence rates in a population-based study}}. {Dev Med Child Neurol}. 2020.
AIM: To assess a total population of school-age children with cerebral palsy (CP) for autism and attention-deficit/hyperactivity disorder (ADHD) with a view to determining their prevalence and to relate findings to motor function, intellectual disability, and other associated impairments. METHOD: Of 264 children, born between 1999 and 2006, from the CP register of western Sweden, 200 children (109 males, 91 females, median age at assessment 14y, range 7-18y) completed comprehensive screening and further neuropsychiatric clinical assessments. RESULTS: Ninety children (45%) were diagnosed with autism, ADHD, or both, 59 (30%) were diagnosed with autism, and 60 (30%) were diagnosed with ADHD. Intellectual disability was present in 51%. Two-thirds had autism, ADHD, and/or intellectual disability. In regression models, autism was mainly predicted by intellectual disability (odds ratio [OR]=4.1) and ADHD (OR=3.2), and ADHD was predicted by intellectual disability (OR=2.3) and autism (OR=3.0). Autism was more common in children born preterm (OR=2.0). Gross motor function was not associated with autism. ADHD prevalence was low in children with severe motor impairment, possibly due to diagnostic limitations. INTERPRETATION: Autism and ADHD were common in this population of children with CP and were mainlyindependent of motor severity and CP type. The strongest predictor of autism/ADHD was intellectual disability. Assessment for autism and ADHD is warranted as part of the evaluation in CP.
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21. Qi S, Morris R, Turner JA, Fu Z, Jiang R, Deramus TP, Zhi D, Calhoun VD, Sui J. {{Common and unique multimodal covarying patterns in autism spectrum disorder subtypes}}. {Mol Autism}. 2020; 11(1): 90.
BACKGROUND: The heterogeneity inherent in autism spectrum disorder (ASD) presents a substantial challenge to diagnosis and precision treatment. Heterogeneity across biological etiologies, genetics, neural systems, neurocognitive attributes and clinical subtypes or phenotypes has been observed across individuals with ASD. METHODS: In this study, we aim to investigate the heterogeneity in ASD from a multimodal brain imaging perspective. The Autism Diagnostic Observation Schedule (ADOS) was used as a reference to guide functional and structural MRI fusion. DSM-IV-TR diagnosed Asperger’s disorder (n = 79), pervasive developmental disorder-not otherwise specified [PDD-NOS] (n = 58) and Autistic disorder (n = 92) from ABIDE II were used as discovery cohort, and ABIDE I (n = 400) was used for replication. RESULTS: Dorsolateral prefrontal cortex and superior/middle temporal cortex are the primary common functional-structural covarying cortical brain areas shared among Asperger’s, PDD-NOS and Autistic subgroups. Key differences among the three subtypes are negative functional features within subcortical brain areas, including negative putamen-parahippocampus fractional amplitude of low-frequency fluctuations (fALFF) unique to the Asperger’s subtype; negative fALFF in anterior cingulate cortex unique to PDD-NOS subtype; and negative thalamus-amygdala-caudate fALFF unique to the Autistic subtype. Furthermore, each subtype-specific brain pattern is correlated with different ADOS subdomains, with social interaction as the common subdomain. The identified subtype-specific patterns are only predictive for ASD symptoms manifested in the corresponding subtypes, but not the other subtypes. CONCLUSIONS: Although ASD has a common neural basis with core deficits linked to social interaction, each ASD subtype is strongly linked to unique brain systems and subdomain symptoms, which may help to better understand the underlying mechanisms of ASD heterogeneity from a multimodal neuroimaging perspective. LIMITATIONS: This study is male based, which cannot be generalized to the female or the general ASD population.
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22. Rahi S, Mehan S. {{Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals}}. {Cellular and molecular neurobiology}. 2020.
Autism is a multifactorial neurodevelopmental condition; it demonstrates some main characteristics, such as impaired social relationships and increased repetitive behavior. The initiation of autism spectrum disorder is mostly triggered during brain development by the deregulation of signaling pathways. Sonic hedgehog (SHH) signaling is one such mechanism that influences neurogenesis and neural processes during the development of the central nervous system. SMO-SHH signaling is also an important part of a broad variety of neurological processes, including neuronal cell differentiation, proliferation, and survival. Dysregulation of SMO-SHH signaling leads to many physiological changes that lead to neurological disorders such as ASD and contribute to cognitive decline. The aberrant downregulation of SMO-SHH signals contributes to the proteolytic cleavage of GLI (glioma-associated homolog) into GLI3 (repressor), which increases oxidative stress, neuronal excitotoxicity, neuroinflammation, and apoptosis by suppressing target gene expression. We outlined in this review that SMO-SHH deregulation plays a crucial role in the pathogenesis of autism and addresses the current status of SMO-SHH pathway modulators. Additionally, a greater understanding of the SHH signaling pathway is an effort to improve successful treatment for autism and other neurological disorders.
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23. Rawsthorne H, Calahorro F, Feist E, Holden-Dye L, O’Connor V, Dillon J. {{Neuroligin dependence of social behaviour in C. elegans provides a model to investigate an autism associated gene}}. {Hum Mol Genet}. 2020.
Autism spectrum disorder (ASD) is characterised by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neuroligin in social circuitry and the impact of genetic variation to this gene is not fully understood. Indeed, in animal studies designed to model autism there remains controversy regarding the role of neuroligin dysfunction in the expression of disrupted social behaviours. The model organism, C. elegans, offers an informative experimental platform to investigate the impact of genetic variants on social behaviour. In a number of paradigms it has been shown that inter-organismal communication by chemical cues regulates C. elegans social behaviour. We utilise this social behaviour to investigate the effect of autism associated genetic variants within the social domain of the research domain criteria. We have identified neuroligin as an important regulator of social behaviour and segregate the importance of this gene to the recognition and/or processing of social cues. We also use CRISPR/Cas9 to edit an R-C mutation that mimics a highly penetrant human mutation associated with autism. C. elegans carrying this mutation phenocopy the behavioural dysfunction of a C. elegans neuroligin null mutant, thus confirming its significance in the regulation of animal social biology. This highlights that quantitative behaviour and precision genetic intervention can be used to manipulate discrete social circuits of the worm to provide further insight to complex social behaviour.
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24. 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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25. Umesawa Y, Atsumi T, Fukatsu R, Ide M. {{Decreased utilization of allocentric coordinates during reaching movement in individuals with autism spectrum disorder}}. {PLoS One}. 2020; 15(11): e0236768.
Despite numerous reports of abnormalities in limb motor controls in spatial orientation in individuals with autism spectrum disorder (ASD), the underlying mechanisms have not been elucidated. We studied the influence of allocentric coordinates on ongoing reaching movements, which has been reported to strongly affect the reaching movements of typically developing (TD) individuals. ASD and TD participants observed a target presented randomly on one of the four corners of a frame on a screen. After it disappeared, another frame was presented slightly shifted leftward/rightward. The participants touched the memorized position of the target relatively congruent with a reference frame (allocentric condition) or ignoring it (egocentric condition). Results suggested that TD individuals were apt to touch the positions in allocentric manner rather than egocentric manner, while ASDs did not show this prioritization. Our findings demonstrate that decreased utilization of visual landmarks in ongoing movement may underlie motor disabilities in autism.
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26. Vallée A, Lecarpentier Y, Guillevin R, Vallée JN. {{The influence of circadian rhythms and aerobic glycolysis in autism spectrum disorder}}. {Translational psychiatry}. 2020; 10(1): 400.
Intellectual abilities and their clinical presentations are extremely heterogeneous in autism spectrum disorder (ASD). The main causes of ASD remain unclear. ASD is frequently associated with sleep disorders. Biologic rhythms are complex systems interacting with the environment and controlling several physiological pathways, including brain development and behavioral processes. Recent findings have shown that the deregulation of the core clock neurodevelopmental signaling is correlated with ASD clinical presentation. One of the main pathways involved in developmental cognitive disorders is the canonical WNT/β-catenin pathway. Circadian clocks have a main role in some tissues by driving circadian expression of genes involved in physiologic and metabolic functions. In ASD, the increase of the canonical WNT/β-catenin pathway is enhancing by the dysregulation of circadian rhythms. ASD progression is associated with a major metabolic reprogramming, initiated by aberrant WNT/β-catenin pathway, the aerobic glycolysis. This review focuses on the interest of circadian rhythms dysregulation in metabolic reprogramming in ASD through the aberrant upregulation of the canonical WNT/β-catenin pathway.
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27. 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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28. Wagley N, Lajiness-O’Neill R, Hay JSF, Bowyer SM, Ugolini M, Kovelman I, Brennan JR. {{Predictive processing during a naturalistic statistical learning task in ASD}}. {eNeuro}. 2020.
Children’s sensitivity to regularities within the linguistic stream, such as the likelihood that syllables co-occur, is foundational to speech segmentation and language acquisition. Yet, little is known about the neurocognitive mechanisms underlying speech segmentation in typical development and in neurodevelopmental disorders that impact language acquisition such as Autism Spectrum Disorder (ASD). Here, we investigate the neural signals of statistical learning in 15 human participants (children ages 8-12) with a clinical diagnosis of ASD and 14 age- and gender-matched typically developing peers. We tracked the evoked neural responses to syllable sequences in a naturalistic statistical learning corpus using magnetoencephalography (MEG) in the left primary auditory cortex, posterior superior temporal gyrus, and inferior frontal gyrus, across three repetitions of the passage. In typically developing children, we observed a neural index of learning in all three regions of interest, measured by the change in evoked response amplitude as a function of syllable surprisal across passage repetitions. As surprisal increased, the amplitude of the neural response increased; this sensitivity emerged after repeated exposure to the corpus. Children with ASD did not show this pattern of learning in all three regions. We discuss two possible hypotheses related to children’s sensitivity to bottom-up sensory deficits and difficulty with top-down incremental processing.Significance Statement Language acquisition involves segmenting the continuous speech stream into sounds, syllables, and words. Learning these units relies on both the properties of the input, as well as emerging high-order cognitive mechanisms that guide learning from the top-down. We examined the neurobiology underlying the integration of top-down and bottom-up information in statistical speech segmentation in children with and without ASD. We offer evidence of neural and behavioral effects of syllable-to-syllable processing in speech segmentation that differ in typically developing children from children with a clinical diagnosis of ASD. Our findings inform developmental and cognitive theories of language acquisition by examining the computational nature of speech segmentation across different populations of learners.
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29. Wallace-Watkin C, Whitehouse AJO, Waddington H. {{Early Intervention Delivery Methods for New Zealand Children with Autism: Current Practices Versus Parental Preferences}}. {J Autism Dev Disord}. 2020.
Little is known about parent preferences regarding delivery methods of early interventions. This research examined, through parent report, the current and preferred delivery methods of seven common educational early interventions accessed by New Zealand children with autism spectrum disorder. Responses from 63 eligible participants were collected via an online questionnaire. Results suggested that four of the seven early intervention services were predominantly delivered through some form of professional advice to parents. Participants who were receiving at least one privately funded service were more likely to have at least one service delivered directly to their child. Parents’ most preferred delivery method for all early intervention services, except parent education programs, involved a professional working directly with their child.
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30. Wang K, Li N, Xu M, Huang M, Huang F. {{Glyoxalase 1 Inhibitor Alleviates Autism-like Phenotype in a Prenatal Valproic Acid-Induced Mouse Model}}. {ACS chemical neuroscience}. 2020; 11(22): 3786-92.
Autism spectrum disorder (ASD) is a severe neurological and developmental disorder that impairs a person’s ability to socialize and communicate and affects behavior. The number of patients diagnosed with ASD has risen rapidly. However, the pathophysiology of ASD is poorly understood, and drugs for ASD treatment are strikingly limited. This study aims to evaluate the roles of glyoxalase 1 (GLO1)-methylglyoxal (MG)-γ-aminobutyric acid (GABA) signaling in ASD using a valproic acid (VPA)-induced animal model of autism. The GLO1 levels were analyzed by RT-qPCR and Western blot assay, and MG levels were measured with a Methylglyoxal Assay Kit. The open-field and sniff duration tests were used to assess the interest and anxiety of VPA mice. The three-chamber, marble-burying, and tail-flick tests were applied to determine the sociability, repetitive behavior, and nociceptive threshold of VPA mice. Our results demonstrated that increased GLO1 and decreased MG were observed in VPA mice. Administration of S-p-bromobenzylglutathione cyclopentyl diester (BrBzGCp2), a GLO1 inhibitor, was beneficial for alleviating anxiety, reducing repetitive behavior, and improving the impaired sociability and nociceptive threshold of VPA mice. BrBzGCp2 treatment may be developed as a promising therapeutic strategy for patients with ASD.
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31. Winter AS, Fountain C, Cheslack-Postava K, Bearman PS. {{The social patterning of autism diagnoses reversed in California between 1992 and 2018}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2020.
As rates of autism diagnosis increased dramatically over the past number of decades, prevalence rates were generally highest among Whites and among those of higher socioeconomic status (SES). Using a unique, population-level dataset, we find that rates of autism diagnosis continued to be on the rise in recent years, but who is diagnosed changed during the study period. Our data consist of birth records of all 13,272,573 children born in the state of California in 1992 through 2016 linked to autism caseload records for January 1992 through November 2019 from California’s Department of Developmental Services. California’s diagnosed autism incidence rate rose from 0.49 per 1,000 3-6 y olds in 1998 to 3.49 per 1,000 3-6 y olds in 2018, a 612% increase. However, diagnosed incidence rates did not rise uniformly across sociodemographic groups. By 2018, children of Black and Asian mothers were diagnosed at higher rates than children of non-Hispanic White mothers. Furthermore, among children of non-Hispanic White and Asian mothers, children of lower SES were diagnosed at higher rates than children of higher SES. These changes align with sociological theories of health disparities and contain important clues for more fully understanding the autism epidemic.
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32. Yang J, Fu X, Liao X, Li Y. {{Effects of gut microbial-based treatments on gut microbiota, behavioral symptoms, and gastrointestinal symptoms in children with autism spectrum disorder: A systematic review}}. {Psychiatry Res}. 2020; 293: 113471.
Many studies have identified some abnormalities in gastrointestinal (GI) physiology (e.g., increased intestinal permeability, overall microbiota alterations, and gut infection) in children with autism spectrum disorder (ASD). Furthermore, changes in the intestinal flora may be related to GI and ASD symptom severity. Thus, we decided to systematically review the effects of gut microbial-based interventions on gut microbiota, behavioral symptoms, and GI symptoms in children with ASD. We reviewed current evidence from the Cochrane Library, EBSCO PsycARTICLES, PubMed, Web of Science, and Scope databases up to July 12, 2020. Experimental studies that used gut microbial-based treatments among children with ASD were included. Independent data extraction and quality assessment of studies were conducted according to the PRISMA statement. Finally, we identified 16 articles and found that some interventions (i.e., prebiotic, probiotic, vitamin A supplementation, antibiotics, and fecal microbiota transplantation) could alter the gut microbiota and improve behavioral symptoms and GI symptoms among ASD patients. Our findings highlight that the gut microbiota could be a novel target for ASD patients in the future. However, we only provided suggestive but not conclusive evidence regarding the efficacy of interventions on GI and behavioral symptoms among ASD patients. Additional rigorous trials are needed to evaluate the effects of gut microbial-based treatments and explore potential mechanisms.
