Pubmed du 16/08/22
1. Araújo Sarmento J, Valadas LAR, Sousa J, Gualberto AVS, Rodrigues L, Guimarães AS. Development and application of a questionnaire to evaluate signs of temporomandibular disorder observed by caregivers of children with autism spectrum disorder. Spec Care Dentist;2022 (Aug 14)
OBJECTIVE: This study aimed to develop and validate a questionnaire to detect signs of temporomandibular disorders (TMD), verifying whether the perception of signs observed by caregivers of non-verbal autistic children are the same as those observed by caregivers of verbal ones. METHODS: This is a cross-sectional, exploratory and analytical study. The sample consisted of forty individuals with Autism Spectrum Disorders (ASD), thirty non-verbal and ten verbal, besides their respective caregivers. For this, an experimental questionnaire was applied and compared to the European Academy of Orofacial Pain (EAOP) questionnaire, which is already validated and widely used throughout the world. All responses were compared using the chi-square test and the questionnaires were compared with the McNemar test, considering p < .05. RESULTS: When comparing the number of coincident responses to the questionnaire between caregivers and children, the mean was 8.2 ± 1.61 responses. After performing the binomial test, no statistically significant discrepancy was found between the results of the two tests adopted when the questionnaires were compared (Mc Nemar test, p > .05) CONCLUSION: The development of this questionnaire and its validation serve as a support for health professionals in the TMD area, for the detection of TMD in non-verbal autistic children, providing them and their caregivers, who are faced with several difficulties in their day-by-day, a facilitating instrument.
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2. Artiran S, Ravisankar R, Luo S, Chukoskie L, Cosman P. Measuring Social Modulation of Gaze in Autism Spectrum Condition With Virtual Reality Interviews. IEEE Trans Neural Syst Rehabil Eng;2022;30:2373-2384.
Gaze behavior in dyadic conversations can indicate active listening and attention. However, gaze behavior that is different from the engagement expected during neurotypical social interaction cues may be interpreted as uninterested or inattentive, which can be problematic in both personal and professional situations. Neurodivergent individuals, such as those with autism spectrum conditions, often exhibit social communication differences broadly including via gaze behavior. This project aims to support situational social gaze practice through a virtual reality (VR) mock job interview practice using the HTC Vive Pro Eye VR headset. We show how gaze behavior varies in the mock job interview between neurodivergent and neurotypical participants. We also investigate the social modulation of gaze behavior based on conversational role (speaking and listening). Our three main contributions are: (i) a system for fully-automatic analysis of social modulation of gaze behavior using a portable VR headset with a novel realistic mock job interview, (ii) a signal processing pipeline, which employs Kalman filtering and spatial-temporal density-based clustering techniques, that can improve the accuracy of the headset’s built-in eye-tracker, and (iii) being the first to investigate social modulation of gaze behavior among neurotypical/divergent individuals in the realm of immersive VR.
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3. Belmonte MK. Motor symptoms in the ASD diagnostic criteria: A conservative perspective. Autism Res;2022 (Sep);15(9):1582-1584.
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4. Bevan S, Harris K, Maeder-Chieffo S, Reswebber E, Lanahan D, Souders M. Positive Healthcare Encounters for Children With Autism Spectrum Disorder: Accommodations During Surgical Procedures. J Perianesth Nurs;2022 (Aug 12)
Children with autism spectrum disorder have unique needs during medical procedures involving anesthesia. However, with early patient identification, provider champions can adapt their practice to better serve this population, thereby improving patient satisfaction and outcomes. This article describes a novel protocol developed by an anesthesia resource center to modify care for children with autism spectrum disorder and their families. This information serves as a template for perianesthesia nurses and advanced care providers to implement practice accommodations. Two case examples, based on parent interviews and chart review, are presented to exemplify this protocol.
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5. Bortoletto R, Colizzi M. Cannabis Use in Autism: Reasons for Concern about Risk for Psychosis. Healthcare (Basel);2022 (Aug 16);10(8)
Being particularly vulnerable to the pro-psychotic effects of cannabinoid exposure, autism spectrum individuals present with an increased risk of psychosis, which may be passed on to their own children. More specifically, cannabis exposure among autism spectrum individuals seems to exert disruptive epigenetic effects that can be intergenerationally inherited in brain areas which play a critical role in schizophrenia pathophysiology. Additionally, because of such cannabinoid-induced epigenetic effects, autism candidate genes present with bivalent chromatin markings which make them more vulnerable to subsequent disruption, possibly leading to psychosis onset later in life. Thus, findings support a developmental trajectory between autism and psychosis, as per endocannabinoid system modulation. However, such evidence has not received the attention it deserves.
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6. Chahboun S, Stenseng F, Page AG. The changing faces of autism: The fluctuating international diagnostic criteria and the resulting inclusion and exclusion-A Norwegian perspective. Front Psychiatry;2022;13:787893.
The common understanding of autism spectrum disorders (ASD) has gone through a number of permutations since the first description in 1943. Throughout these shifting understandings, there have been a number of behaviors and diagnostic criteria associated with the condition, many of which are missing in the most recent classifications. The rates of diagnoses of autism have increased greatly. However, there is no reason to think there has been any change in occurrence over the last 70 years, suggesting rather an increase in our knowledge and awareness. Autism has been the subject of several misapprehensions and misrepresentations throughout history. This might be due to heterogeneity of the cases. In addition, the diagnosing of autism spectrum disorders is mainly based on observation and behavioral interpretation, and thus dependent on subjective perceptions of the clinicians themselves. This current scoping review article intends to provide a view on the evolution of the concept of autism and the current stance within Norwegian scholarship, and how it is shaped by international discourses and cultural diversities Such changing concepts especially impacts people with the diagnosis, as it can affect their access to social services, as well as their self-identification as people with ASD.
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7. Charlot LR, Hodge SM, Holland AL, Frazier JA. Psychiatric diagnostic dilemmas among people with intellectual and developmental disabilities. J Intellect Disabil Res;2022 (Aug 16)
BACKGROUND: Research regarding the accuracy of co-morbid psychiatric diagnoses in individuals with intellectual and developmental disabilities (IDD) is sparse. Yet correct diagnostic assignment is vital so that effective and appropriate treatment can be implemented, especially for the large numbers of individuals requiring expensive and restrictive behavioural health crisis services. METHOD: A retrospective review of de-identified data from multidisciplinary specialty team assessments completed for 50 individuals with ID (IntellectualDisability) with and without ASD and unresolved behavioural health challenges was conducted. The accuracy and reliability of the psychiatric diagnoses upon referral were compared with the diagnoses after the comprehensive team evaluation, and within-individual diagnostic agreement was calculated. The agreement between the Mood and Anxiety Semi-Structured interview tool (MASS) and the full team evaluation was also calculated. The influence of demographic and clinical characteristics on diagnostic agreement was explored. RESULTS: The most common chief complaints upon referral were aggression to others and self-injurious behaviour. Individuals were taking a median of six medications (interquartile range: 5 to 7); 80% were taking an antipsychotic medication. The most common medical conditions were constipation (70%) and gastroesophageal reflux disease (52%). Measures of interrater reliability of the referral diagnoses with the team assessment were below 0.5 (kappa range: -0.04 to 0.39), with the exception of ruling out dementia (kappa = 0.85). The interrater reliability estimates for the MASS evaluations for depression and anxiety were higher (kappa = 0.69 and 0.64) and reflected higher sensitivity and PPV. The odds of any referral diagnosis being confirmed by team evaluation were low: 0.25 (range: 0 to 0.67). The level of diagnostic agreement for each patient was not significantly attributable to demographic or clinical characteristics, although effect sizes indicate a possible positive relationship to age and the number of prescribed psychotropic medications at referral. CONCLUSION: Individuals in the current study had serious psychiatric and behavioural problems despite psychiatric care in their communities. The majority of psychiatric diagnoses provided upon referral were not supported by the multidisciplinary specialty team’s assessment. In addition to possible diagnostic inaccuracy, the group in the study suffered from multiple medical co-morbidities and were exposed to polypharmacy. Results emphasise the importance of multidisciplinary evaluation by clinicians with expertise in neurodevelopmental disabilities when people with ID with and without ASD have complex behavioural health needs that are unresponsive to usual care. In addition, based on agreement with the full team evaluation, the MASS shows promise as an assessment tool, especially with regards to identifying anxiety and depression.
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8. Chavers TN, Schlosser RW, Cheng C, Koul R. Effects of Interventions Involving Speech Output Technologies on Communication Outcomes for Individuals With Developmental Disabilities: A Scoping Review. Am J Speech Lang Pathol;2022 (Sep 7);31(5):2248-2267.
PURPOSE: This scoping review aimed to map the literature on the effects of interventions involving speech output technologies on communication outcomes for individuals with developmental disabilities other than autism spectrum disorder. METHOD: A scoping review methodology was used to limit bias in searching, selecting, coding, and synthesizing relevant intervention studies. This involved a multifaceted search for studies conducted between 1991 and March 2021 using various electronic databases, ancestry searches, and forward citation searches from selected articles. Studies had to meet stringent inclusion criteria. Each study was summarized in terms of authors, purpose, participants, design, speech output, outcomes, effectiveness, and quality appraisal. RESULTS: Twenty-five single-case experimental design studies (88 participants) and one group design studies (62 participants) qualified for inclusion. Most of the participants had multiple diagnoses followed by a diagnosis of cerebral palsy and Down syndrome. Most studies focused on requesting behaviors and to a much lesser extent on syntactic structure and word identification. A dearth of high-quality studies was identified. CONCLUSIONS: Overall, there is a paucity of high-quality research investigating the effects of speech output technologies for children with developmental disabilities. Additionally, several directions for future research are posited. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20468928.
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9. Deniz E, Francis G, Torgerson C, Toseeb U. Parent-mediated play-based interventions to improve social communication and language skills of preschool autistic children: A systematic review and meta-analysis protocol. PLoS One;2022;17(8):e0270153.
Early years interventions have shown to be effective in improving the social communication and language skills of autistic children. Therefore, various play-based interventions have been developed to support those developmental areas of autistic children. Although researchers have previously reported the overall effectiveness of different types of play-based interventions on the social communication and language skills of autistic children, no previous systematic reviews have yet evaluated the effectiveness of parent-mediated play-based interventions in preschool autistic children. The overarching aims of the study will be to (i) report the key characteristics and (ii) synthesise the results of studies evaluating parent-mediated play-based interventions targeting the social communication and language skills of preschool autistic children using experimental designs. A comprehensive search for and screening of the relevant studies published between 2000 and 2021 will be undertaken. To be included, studies will have to (i) use either a randomised control trial or quasi-experimental design, (ii) focus on preschool autistic children aged six years old or younger, (iii) deliver a play-based intervention in non-educational settings, and (iv) include at least one parent as the mediator of the intervention. Data extraction of all included studies will be undertaken using a specially devised template and they will also be assessed for risk of bias using an adapted form from the Cochrane Risk of Bias tool. The overall characteristics of the included studies will be reported and a narrative synthesis of the results of the included studies will be undertaken. A meta-analysis may be performed (if justified) to report the pooled effect size of the parent-mediated play-based interventions on the social communication and language skills of preschool autistic children. Trial registration: The current study protocol was pre-registered with the international prospective register of systematic reviews (PROSPERO: CRD42022302220).
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10. Dy ABC, Tanchanco LBS, Sy JCY, Levantino MD, Hagerman RJ. Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Aug 16)
Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino children has never been reported. The aim of the study was to establish the presence of FXS or premutation carriers among Filipino children with autism and to describe the phenotypic characteristic of cases identified. Blood was collected from 235 children aged 2-6 years old and diagnosed with autism. Samples were analyzed using PCR methods to amplify CGG repeats in the FMRI gene. The diagnosis of autism was confirmed through the Autism Diagnostic Observation Schedule-2. Additional characteristics were documented from a physical examination, Griffiths Scales of Child Development assessment and a parent-answered questionnaire using the Vineland Adaptive Behavior Scale. Fragile X testing through PCR methods in 235 children with diagnosed autism showed 220 (93.6%) were negative, no full mutations, 1 (0.436%) premutation carrier and 14 (5.95%) cases contained intermediate alleles. The FXS testing was limited to confirmed cases of autism, which is considered a high-risk group and does not provide prevalence for the general Filipino population. Subjects were self-referred or referred by clinicians, which may not represent the Filipino autism population with a bias towards those with means for clinical consultations and ability to travel to the place of testing. Samples were not measured for mosaicism, DNA methylation or AGG interspersion patterns. These may have effects on the CGG repeat expansion and overall presentation of FXS. Findings from a single premutation carrier cannot characterize features distinctly present in Filipinos with the mutation. Nevertheless, these results support the data that the prevalence of FXS in Asian populations may be lower than non-Asian populations. This can contribute to a better understanding of FXS and genetic causes of autism in the Philippines and other Asian populations.
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11. Eigsti IM, Fein DA. Insights from losing the autism diagnosis: Autism spectrum disorder as a biological entity. Front Psychiatry;2022;13:972612.
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12. Furuta S, Aleksic B, Nawa Y, Kimura H, Kushima I, Ishizuka K, Kato H, Toyama M, Arioka Y, Mori D, Morikawa M, Inada T, Ozaki N. Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder. Nagoya J Med Sci;2022 (May);84(2):260-268.
A number of genomic mutations that are thought to be strongly involved in the development of schizophrenia (SCZ) and autism spectrum disorder (ASD) have been identified. Abnormalities involving oligodendrocytes have been reported in SCZ, and as a related gene, oligodendrocyte lineage transcription factor 2 (OLIG2) has been reported to be strongly associated with SCZ. In this study, based on the common disease-rare variant hypothesis, target sequencing of candidate genes was performed to identify rare mutations with a high effect size and the possibility that the identified mutations may increase the risks of SCZ and ASD in the Japanese population. In this study, the exon region of OLIG2 was targeted; 370 patients with SCZ and 192 with ASD were subjected to next-generation sequencing. As a result, one rare missense mutation (A33T) was detected. We used the Sanger method to validate this missense mutation with a low frequency (<1%), and then carried out a genetic association analysis involving 3299 unrelated individuals (1447 with SCZ, 380 with ASD, and 1472 healthy controls) to clarify whether A33T was associated with SCZ or ASD. A33T was not found in either case group, and in only one control. We did not find evidence that p.A33T is involved in the onset of ASD or SCZ; however, associations with this variant need to be evaluated in larger samples to confirm our results.
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13. Gilmore D, Longo A, Krantz M, Radford D, Hand BN. Five Ways Providers Can Improve Mental Healthcare for Autistic Adults: A Review of Mental Healthcare Use, Barriers to Care, and Evidence-Based Recommendations. Curr Psychiatry Rep;2022 (Aug 15):1-7.
PURPOSE OF REVIEW: We reviewed the literature from 2017 to 2022 on autistic adults’ use of mental healthcare and barriers to care. To encourage immediate improvement in mental healthcare, we provide five strategies mental health providers can use to better care for autistic adults. RECENT FINDINGS: Most autistic adults use mental healthcare and use it more often than non-autistic adults. Autistic adults’ experiences with mental healthcare are characterized by (1) lack of providers knowledgeable about autism, (2) use of treatments that may not be accommodating to individual needs, and (3) difficulty navigating the complex healthcare system. These barriers contribute to prevalent unmet needs for mental healthcare. Autistic adults use mental healthcare frequently but have unmet mental health needs. As necessary systemic changes develop, providers can begin immediately to better care for autistic adults by learning about their needs and taking personalized care approaches to meet those needs.
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14. Hodgson R, Biswas M, Palmer S, Marshall D, Rodgers M, Stewart L, Simmonds M, Rai D, Le Couteur A. Intensive behavioural interventions based on applied behaviour analysis (ABA) for young children with autism: A cost-effectiveness analysis. PLoS One;2022;17(8):e0270833.
BACKGROUND: The economic and social costs of autism are significant. This study evaluates the cost-effectiveness of early intensive Applied Behaviour Analysis (ABA)-based interventions for autistic pre-school children in the UK. METHODS: A de novo economic analysis was developed in Microsoft Excel comparing early intensive ABA-based interventions compared with treatment as usual (TAU). The analysis used 15.5-year time horizon, with costs and benefits discounted a 3.5%. The model structure was based on cohort structure to capture changes in adaptive behaviour and cognitive ability over time. The analysis was informed by an individual patient data (IPD) meta-analysis of available evidence. RESULTS: Adopting a public sector perspective, early intensive ABA-based therapies were associated with greater incremental costs and greater benefits. When pessimistic assumptions were made regarding the long-term effects of treatment incremental costs were £46,103 and incremental quality-adjusted life years (QALYs) were 0.24, resulting in an incremental cost-effectiveness ratio (ICER) of £189,122 per quality-adjusted life year (QALY). When optimistic assumptions were made about long-term effects, incremental costs were £39,233 with incremental benefits of 0.84 QALYs. The resulting ICER was £46,768 per QALY. Scenario analyses emphasised the importance of assumptions made regarding adult outcomes and type of school attended, both of which significantly affect the results of the analysis. CONCLUSIONS: The results of this economic analysis suggest that early intensive ABA-based interventions are unlikely to represent value for money, based on a £20,000 to £30,000 per QALY threshold typically adopted to inform UK healthcare funding decisions. However, important gaps in the available evidence, limit the strength of the conclusions that can be drawn from the presented analysis. Further research, focusing on the trajectory of autistic children following intervention is likely to be highly beneficial to resolving some of these uncertainties.
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15. Jones J, Reinke SN, Mousavi-Derazmahalleh M, Palmer DJ, Christophersen CT. Changes to the Gut Microbiome in Young Children Showing Early Behavioral Signs of Autism. Front Microbiol;2022;13:905901.
The human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction. The ability of the gut microbiota to signal across the gut-brain-microbiota axis with metabolites, including short-chain fatty acids, impacts brain health and has been identified to play a role in the gastrointestinal and developmental symptoms affecting autistic children. The fecal microbiome of older children with ASD has repeatedly shown particular shifts in the bacterial and fungal microbial community, which are significantly different from age-matched neurotypical controls, but it is still unclear whether these characteristic shifts are detectable before diagnosis. Early microbial colonization patterns can have long-lasting effects on human health, and pre-emptive intervention may be an important mediator to more severe autism. In this study, we characterized both the microbiome and short-chain fatty acid concentrations of fecal samples from young children between 21 and 40 months who were showing early behavioral signs of ASD. The fungal richness and acetic acid concentrations were observed to be higher with increasing autism severity, and the abundance of several bacterial taxa also changed due to the severity of ASD. Bacterial diversity and SCFA concentrations were also associated with stool form, and some bacterial families were found with differential abundance according to stool firmness. An exploratory analysis of the microbiome associated with pre-emptive treatment also showed significant differences at multiple taxonomic levels. These differences may impact the microbial signaling across the gut-brain-microbiota axis and the neurological development of the children.
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16. Kadam A, Soni IG, Kadam S, Pandit A, Patole S. Video-based screening for children with suspected autism spectrum disorder – experience during the COVID-19 pandemic in India. Res Autism Spectr Disord;2022 (Oct);98:102022.
BACKGROUND: Assessments for children with autism spectrum disorder (ASD) must adapt to the current COVID-19 pandemic through innovation in screening and assessment strategies using technology. To our knowledge there are no such studies reported from India. We aimed to study the predictive ability of video-based screening tool with definitive diagnosis in children with ASD. METHOD: Thirty-nine children were screened independently by two examiners with a video-based screening tool to start intervention followed by an in-person evaluation by clinical DSM-5 diagnosis three months later. RESULT: Similar to studies from developed countries, videos assessments showed a 94.87% correlation with the final diagnosis. Interobserver video agreement had a kappa correlation of 0.803, which was classified as substantial agreement. CONCLUSION: Video-based evaluations may be used as an interim assessment to initiate early intervention in children with ASD in resource-limited setups in the current pandemic situation. Large, well-designed prospective studies are required to confirm our results.
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17. Kallitsounaki A, Williams DM. Implicit and Explicit Gender-Related Cognition, Gender Dysphoria, Autistic-Like Traits, and Mentalizing: Differences Between Autistic and Non-Autistic Cisgender and Transgender Adults. Arch Sex Behav;2022 (Aug 16)
Evidence indicates a link between autism spectrum disorder (ASD) and gender diversity, yet this intersection remains insufficiently understood. Here, we investigated whether (1) ASD affects gender-related cognition (i.e., mental processes of perceiving and interpreting one’s own gender self-concept), (2) autistic people have increased gender dysphoria and recall limited gender-typed behavior from childhood, and (3) transgender individuals have increased ASD-like traits and difficulties in mentalizing. A total of 106 non-autistic cisgender (51 birth-assigned female), 107 autistic cisgender (57 birth-assigned female), 78 non-autistic transgender (41 birth-assigned female), and 56 autistic transgender adults (27 birth-assigned female) participated in the study. The mean age of participants was 31.01 years (range = 18 to 70). Using an explicit as well as an implicit measure, for the first time, we found that ASD affected gender-related cognition only in autistic cisgender people. Sex differences were also observed in this group. Whereas autistic cisgender birth-assigned males showed a stronger implicit gender-group identification than non-autistic cisgender birth-assigned males, autistic cisgender birth-assigned females showed a weaker gender-group identification than non-autistic cisgender birth-assigned females. Furthermore, autistic cisgender people reported significantly more gender dysphoric feelings and recalled significantly less gender-typed behavior from childhood than non-autistic cisgender individuals. No difference was observed between non-autistic and autistic transgender people. We also found that relative to non-autistic cisgender individuals, both non-autistic transgender and autistic transgender people reported significantly more ASD-like traits. However, mentalizing difficulties were observed only in the latter group. This research enhances our understanding of the link between ASD and gender diversity.
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18. Kim H, Kim YS, Leventhal BL, Bishop S, Barkovich AJ, Gano D. MRI Findings in Prematurely-Born Adolescents and Young Adults Who Screen Positive for Autism Spectrum Disorder. Pediatr Neurol;2022 (Oct);135:25-27.
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19. Krishnappa Babu PR, Di Martino JM, Chang Z, Perochon S, Aiello R, Carpenter KLH, Compton S, Davis N, Franz L, Espinosa S, Flowers J, Dawson G, Sapiro G. Complexity analysis of head movements in autistic toddlers. J Child Psychol Psychiatry;2022 (Aug 14)
BACKGROUND: Early differences in sensorimotor functioning have been documented in young autistic children and infants who are later diagnosed with autism. Previous research has demonstrated that autistic toddlers exhibit more frequent head movement when viewing dynamic audiovisual stimuli, compared to neurotypical toddlers. To further explore this behavioral characteristic, in this study, computer vision (CV) analysis was used to measure several aspects of head movement dynamics of autistic and neurotypical toddlers while they watched a set of brief movies with social and nonsocial content presented on a tablet. METHODS: Data were collected from 457 toddlers, 17-36 months old, during their well-child visit to four pediatric primary care clinics. Forty-one toddlers were subsequently diagnosed with autism. An application (app) displayed several brief movies on a tablet, and the toddlers watched these movies while sitting on their caregiver’s lap. The front-facing camera in the tablet recorded the toddlers’ behavioral responses. CV was used to measure the participants’ head movement rate, movement acceleration, and complexity using multiscale entropy. RESULTS: Autistic toddlers exhibited significantly higher rate, acceleration, and complexity in their head movements while watching the movies compared to neurotypical toddlers, regardless of the type of movie content (social vs. nonsocial). The combined features of head movement acceleration and complexity reliably distinguished the autistic and neurotypical toddlers. CONCLUSIONS: Autistic toddlers exhibit differences in their head movement dynamics when viewing audiovisual stimuli. Higher complexity of their head movements suggests that their movements were less predictable and less stable compared to neurotypical toddlers. CV offers a scalable means of detecting subtle differences in head movement dynamics, which may be helpful in identifying early behaviors associated with autism and providing insight into the nature of sensorimotor differences associated with autism.
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20. Llera A, Brammer M, Oakley B, Tillmann J, Zabihi M, Amelink JS, Mei T, Charman T, Ecker C, Dell’Acqua F, Banaschewski T, Moessnang C, Baron-Cohen S, Holt R, Durston S, Murphy D, Loth E, Buitelaar JK, Floris DL, Beckmann CF. Evaluation of data imputation strategies in complex, deeply-phenotyped data sets: the case of the EU-AIMS Longitudinal European Autism Project. BMC Med Res Methodol;2022 (Aug 16);22(1):229.
An increasing number of large-scale multi-modal research initiatives has been conducted in the typically developing population, e.g. Dev. Cogn. Neur. 32:43-54, 2018; PLoS Med. 12(3):e1001779, 2015; Elam and Van Essen, Enc. Comp. Neur., 2013, as well as in psychiatric cohorts, e.g. Trans. Psych. 10(1):100, 2020; Mol. Psych. 19:659-667, 2014; Mol. Aut. 8:24, 2017; Eur. Child and Adol. Psych. 24(3):265-281, 2015. Missing data is a common problem in such datasets due to the difficulty of assessing multiple measures on a large number of participants. The consequences of missing data accumulate when researchers aim to integrate relationships across multiple measures. Here we aim to evaluate different imputation strategies to fill in missing values in clinical data from a large (total N = 764) and deeply phenotyped (i.e. range of clinical and cognitive instruments administered) sample of N = 453 autistic individuals and N = 311 control individuals recruited as part of the EU-AIMS Longitudinal European Autism Project (LEAP) consortium. In particular, we consider a total of 160 clinical measures divided in 15 overlapping subsets of participants. We use two simple but common univariate strategies-mean and median imputation-as well as a Round Robin regression approach involving four independent multivariate regression models including Bayesian Ridge regression, as well as several non-linear models: Decision Trees (Extra Trees., and Nearest Neighbours regression. We evaluate the models using the traditional mean square error towards removed available data, and also consider the Kullback-Leibler divergence between the observed and the imputed distributions. We show that all of the multivariate approaches tested provide a substantial improvement compared to typical univariate approaches. Further, our analyses reveal that across all 15 data-subsets tested, an Extra Trees regression approach provided the best global results. This not only allows the selection of a unique model to impute missing data for the LEAP project and delivers a fixed set of imputed clinical data to be used by researchers working with the LEAP dataset in the future, but provides more general guidelines for data imputation in large scale epidemiological studies.
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21. Lupindo BM, Maw A, Shabalala N. Late diagnosis of autism: exploring experiences of males diagnosed with autism in adulthood. Curr Psychol;2022 (Aug 3):1-17.
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder associated with qualitative impairments in social interaction, social communication and restricted, repetitive behaviour (American Psychiatric Association, 2013). Symptoms of ASD are first evident in infancy and childhood. However, individuals presenting with less overt ASD symptomatology may only be diagnosed in adulthood, when the expectation of independence and productivity results in a growing crisis for the individual. This study applied an exploratory qualitative research design to explore first-hand experiences of ten adult males (25 years and above) who were diagnosed with autism during their adulthood. Purposive sampling was used to select participants through the Neurodiversity Centre, Cape Town, South Africa. In-depth one-on-one interviews, guided by a semi-structured interview schedule were conducted. The thematic analysis technique and NVivo 12 qualitative analysis software were used to organise the data and identify themes. Three key themes emerged: failure to diagnose ASD in childhood despite signs and symptoms, ramifications of missed/misdiagnosis in childhood and adulthood on psychological well-being and the impact of receiving a diagnosis of ASD in adulthood. Missed/misdiagnosis had serious implications for psychological well-being throughout childhood and into adulthood. Late diagnosis resulted in missed opportunities for early intervention to address impairments associated with ASD. Receiving a diagnosis provided an explanation for long standing difficulties, offered a way forward in terms of developing coping strategies and allowed for self-acceptance. The implications of these findings for the development of better early screening and assessment for ASD are discussed and future research pathways suggested.
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22. Ma BX, Kong YM, Zhang XY, Zhang YT, He Q. Analysis of misdiagnosis of children with autism spectrum disorders in China. Clin Child Psychol Psychiatry;2022 (Aug 16):13591045221119936.
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23. Maniram J, Karrim SBS, Oosthuizen F, Wiafe E. Pharmacological Management of Core Symptoms and Comorbidities of Autism Spectrum Disorder in Children and Adolescents: A Systematic Review. Neuropsychiatr Dis Treat;2022;18:1629-1644.
PURPOSE: The pharmacological management of Autism Spectrum Disorder (ASD) in children remains a challenge due to limited effective management options and the absence of approved drugs to manage the core symptoms. This review aims to describe and highlight effective pharmacological management options employed in managing the core symptoms and comorbidities of ASD from eligible studies over the past decade. METHODS: A search of databases; PubMed, Scopus, Science Direct, and PsychInfo for pharmacotherapeutic options for ASD was conducted in this systematic review. Duplicate studies were removed by utilizing the EndNote citation manager. The studies were subsequently screened independently by two authors. Eligible studies from 01 January 2012 to 01 January 2022 were included based on established eligibility criteria. A narrative synthesis was used for data analysis. RESULTS: The systematic review provides a comprehensive list of effective management options for ASD comorbidities and core symptoms from 33 included studies. The management options for ASD comorbidities; insomnia, hyperactivity, irritability and aggression, gastrointestinal disturbances, and subclinical epileptiform discharges, were reviewed. Risperidone, aripiprazole, methylphenidate, guanfacine, levetiracetam, and atomoxetine are examples of effective pharmacological drugs against ASD comorbidities. Additionally, this review identified various drugs that improve the core symptoms of ASD and include but are not limited to, bumetanide, buspirone, intranasal oxytocin, intranasal vasopressin, and prednisolone. CONCLUSION: This review has successfully summarized the pharmacological advancements made in the past decade to manage ASD. Although there is still no pharmacological cure for ASD core symptoms or additional drugs that have obtained regulatory approval for use in ASD, the availability of promising pharmacological agents are under evaluation and study.
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24. Mignolli E, Scialpi A, Valente D, Berardi A, Galeoto G, Tofani M. Sleep Disturbance Scale for Children: Italian Validation in Autism Spectrum Disorder Population. Int J Environ Res Public Health;2022 (Aug 16);19(16)
Sleep disorders in children with autism spectrum disorders (ASDs) are well-described. However, there is a lack of specific assessment tools to investigate sleep disturbance in this target population. The present investigation reports the Italian validation of the Sleep Disturbance Scale for Children (SDSC) in the ASD population, also investigating the correlation between sleep disorders In both children and parents. Internal consistency and test-retest reliability were investigated using Cronbach’s alpha and intraclass correlation coefficient (ICC), respectively. Concurrent validity was analyzed by comparing the score of the SDSC with the Pittsburgh Sleep Quality Index (PSQI), while the correlation between the SDCS score and the General Sleep Disturbance Scale (GSDS) was used to analyze the correlation between sleep disorders in children and sleep disorders in their parents. In total, 99 children with a diagnosis of ASD participated in the study. Cronbach’s alpha revealed satisfactory value (0.853), as well as reliability (ICC 0.972) and concurrent validity (0.745). Our results also revealed a significant linear correlation between children’s and parents’ sleep disorders (p < 0.05). In conclusion, we found the SDSC to be a useful tool for measuring sleep disorders in ASD children. Our findings offer concrete inputs to achieve adequate pathways for taking care of children with ASDs and their parents.
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25. Mokoena N, Kern A. Experiences of siblings to children with autism spectrum disorder. Front Psychiatry;2022;13:959117.
Autism spectrum disorder (ASD) is prevalent globally resulting in increased awareness and understanding of the disorder internationally and to a lesser extent in Southern African countries. This understanding has predominantly been in relation to the impact of the disorder on the neurodivergent child and family relations. Internationally, limited research has explored the impact on neurotypical siblings who have been raised alongside children diagnosed with ASD, with a dearth of such studies emerging from the South African context. The importance of neurotypical siblings’ developmental experiences emerging from their immediate environment is significant within the traditionally collectivist nation of South Africa. For this reason, this study aimed to explore South African neurotypical siblings’ experiences of living with a brother or sister diagnosed with ASD; through a qualitative study adopting an interpretative phenomenological design. Semi-structured interviews, aimed at generating demographic data and exploring the experiences of being raised alongside a sibling diagnosed with ASD, were conducted with eight university students. The data generated were analyzed employing the five stages of interpretive phenomenological analysis approach. Themes of emotional burden, perceived family dynamics, acceptance, and identity development emerged through data analysis. The participants reported experiences of pre-mature development, unfair treatment, and feelings of being overburdened, along with reported efforts toward acceptance of their sibling’s diagnosis, and support from community members. Consequently, an understanding that their neurodivergent sibling played a key role in the development of their identities and career trajectories emerged. The impact of being raised alongside a sibling diagnosed with ASD highlights the need for additional support for neurotypical individuals, supported by programs to enhance awareness about ASD in the general South African community. These interventions would be aimed at mitigating the impact of heightened childhood stress, stigmatization, and marginalization.
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26. Montenegro MC, Bernal E, Cukier S, Valdez D, Rattazzi A, Garrido G, Rosoli A, Silvestre Paula C, Garcia R, Montiel-Nava C. Age of diagnosis, service access, and rights of autistic individuals in Argentina: Caregivers reports of changes and similarities across time. Front Psychiatry;2022;13:915380.
BACKGROUND: Many countries have developed health initiatives to protect those with disabilities and developmental concerns in the past few years. However, the needs of autistic individuals are still short of being fulfilled. Partially due to limited research expenditure, which would allow bridging the gap between evidence and practice, the long time it takes to implement passed laws, and the limited operationalization of inclusive policies. OBJECTIVE: To quantitatively examine changes in the child’s age at the time of caregiver’s first developmental concerns and age of diagnosis of their autistic child across 5 years. Also, to address challenges experienced by caregivers (e.g., reported service barriers) and the work still needing to be done in Argentina based on caregivers’ reports of their priorities (e.g., ensuring their child receives better services). METHODS: Two independent samples of caregivers of autistic individuals were surveyed by the Red Espectro Autista Latinoamerica (REAL) in 2015 (n = 763) and the World Health Organization (WHO) in 2020 (n = 422). Similar items in both surveys were compared through descriptive inferential analysis and chi-square tests for categorical variables. RESULTS: Compared to the 2015 sample, for the 2020 sample, more caregivers reported an earlier age of first concerns and an earlier age of a professional diagnosis. In the 2020 sample, more children diagnosed before the age of three had a doctor or a teacher noticing the first developmental concern. Also, in this sample, fewer caregivers reported service barriers (e.g., limited availability, waitlist, costs, etc.) and a need for better social support and better health services. However, rates of caregivers indicating a need for more rights for autistic individuals and greater protection of existing rights increased. There was no change in the reported rate of family members who stopped working to care for the autistic individual. For both samples, there was statistically significant differences in individual (physician, teacher, caregiver) noticing first developmental concern and the age of diagnosis, with the majority having a caregiver noticing the first concern. CONCLUSION: The 5 years that separate both samples show an improvement in developmental concerns being noticed, a decrease in age of diagnosis, and an improvement in several service areas such as community awareness. Also, caregivers reported fewer barriers to service accessibility, thus suggesting a positive impact stemming from changes in public policies, non-profit organizations’ work through awareness campaigns, and advocates’ strives toward greater awareness. Nonetheless, a similar proportion of family members reported ceasing working to care for autistic individuals and perceived that the fundamental rights of their autistic children needed to be protected. These results imply that despite better care pathways in Argentina, there are still gaps when attempting to meet the needs of autistic individuals and their families. The present study provides a meaningful understanding of existing gaps and help exemplify the perceived improvements when non-profit agencies and advocates promote increased rights and community awareness in addition to the established laws focusing on ASD.
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27. Naithani L, Sangwan P, Roy SG, Menon S, Azar Z, Lakhera S, Kumar D, Abhilashi MK, Roy R, Vajaratkar V, Taylor C, Patel V, Green J, Divan G. From engagement to competency: The pathway to making disability naïve frontline workers competent in the delivery of an evidence-based autism intervention in New Delhi, India. Front Psychiatry;2022;13:903341.
BACKGROUND: As countries like India improve access to maternal and infant care, the health systems need to develop services that enable all children to thrive. A key demographic which needs to be supported are children with disabilities, such as autism. With an estimated prevalence of one percent, there are over five million young children who need services to support their needs. However, the paucity of specialist care makes access to interventions difficult. In this context a public health research not-for-profit is evaluating the effectiveness of the task-sharing approach to support the delivery of an evidenced social communication intervention for young children with autism. This paper describes the process of engaging and training the non-specialist frontline Accredited Social Health Activists (ASHAs), who are embedded within the Ministry of Health and Family Welfare under the Delhi State Health Mission, to deliver a complex intervention for autism to inform the future scalability of services for neurodevelopmental disorders. METHODS: The present study describes the process which included (i) engagement meetings, (ii) recruitment, (iii) training, (iv) internship, and (v) competency evaluation. The shortlisted ASHAs received a 7-day classroom training followed by an internship period with practice cases. Finally, competency assessments, comprising of a test of knowledge and skills through role-plays, was administered. RESULTS: Twenty three Primary Urban Health Centers across seven districts of Delhi were approached and 408 ASHAs were engaged in initial meetings. Telephonic screening with 127 ASHAs resulted in 72 ASHAs being selected for in-person interviews. Of the 45 ASHAs who attended, 33 were shortlisted for training and 18 completed it. Fifteen ASHAs entered the internship of which 7 ASHAs achieved competency. DISCUSSION AND CONCLUSION: There was significant attrition along the pathway to having a competent non-specialist worker deliver a complex autism intervention. The lessons learnt from this process can inform the possibility of developing a cadre of disability specific frontline health workers who can deliver evidence-based interventions for neurodevelopmental disorders under supervision.
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28. Nudel R, Thompson WK, Børglum AD, Hougaard DM, Mortensen PB, Werge T, Nordentoft M, Benros ME. Maternal pregnancy-related infections and autism spectrum disorder-the genetic perspective. Transl Psychiatry;2022 (Aug 16);12(1):334.
Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders which include deficits in behavior, social interaction and communication. ASD has a complex genetic architecture, and it is also influenced by certain environmental exposures. Both types of predisposing factors may be related to immunological mechanisms, involving, for example, immune system genes and infections. Past studies have shown an association between infections occurring during the pregnancy in the mother and increased risk of ASD in the child, an observation which has received recent support from experimental animal studies of ASD-like behavior. The aim of this study was to study the genetic contribution to this effect. We employed genetic correlation analyses across potential ASD subtypes stratified on the basis of maternal pregnancy-related infections within the iPSYCH ASD case-cohort sample, as well as a case-case GWAS. We validated the trends of the genetic correlation analyses observed in our sample using GWAS summary statistics from the PGC ASD study (excluding iPSYCH). The genetic correlation between ASD with a history of maternal pregnancy-related infections and ASD without a history of maternal infections in iPSYCH was r(g) = 0.3811. We obtained a similar estimate between the former and the PGC ASD phenotype (r(g) = 0.3997). Both estimates are lower compared to the genetic correlation between ASD without a history of maternal infections and the PGC ASD phenotype (r(g) = 0.6735), and between ASD with a history of maternal infections occurring only more than 2 months following childbirth and the PGC ASD phenotype (r(g) = 0.6293). Additionally, we observed genetic variance between the two main ASD phenotypes using summary statistics from the case-case GWAS in iPSYCH (h(2)(cc) = 0.1059), indicating genome-wide differences between the phenotypes. Our results suggest potentially different etiologies of ASD based on a history of maternal pregnancy-related infections, which may, in part, be genetic. This highlights the relevance of maternal pregnancy-related infections to genetic studies of ASD and provides new insights into the molecular underpinnings of ASD.
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29. Oster LM, Zhou G. Balance and Vestibular Deficits in Pediatric Patients with Autism Spectrum Disorder: An Underappreciated Clinical Aspect. Autism Res Treat;2022;2022:7568572.
Children with autism spectrum disorder (ASD) not only have communication and social difficulties, but also exhibit poor balance and motor control ability, which frequently affect daily activities. Effective balance and motor control rely on the integration of somatosensory, visual, and vestibular inputs. Although reports of balance dysfunction in ASD have been documented, comprehensive studies of balance and vestibular function in children with ASD are scarce. In this study, we retrospectively reviewed 36 pediatric patients diagnosed with ASD who underwent balance/vestibular laboratory testing in our speciality clinic. Results from sensory organization test (SOT) or modified clinical test for sensory integration of balance (mCTSIB) found that out of 15 patients, 80% had abnormal findings. Of the children who successfully completed each vestibular test, abnormal responses were observed in 12 (80%) sensory organization tests, 5 (24%) vestibular evoked myogenic potential (VEMP), 22 (66%) videonystagmography (VNG), and 11 (32%) sinusoidal rotary chair tests. These results indicate that balance and vestibular testing may be of diagnostic value for clinicians and providers as an aid in early detection, intervention, and the development of appropriate management and therapies for this patient population. Increased awareness of this topic is warranted to promote better clinical management of this special group of patients and improve their quality of life.
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30. Pearson G, Song C, Hohmann S, Prokhorova T, Sheldrick-Michel TM, Knöpfel T. DNA Methylation Profiles of GAD1 in Human Cerebral Organoids of Autism Indicate Disrupted Epigenetic Regulation during Early Development. Int J Mol Sci;2022 (Aug 16);23(16)
DNA methylation profiling has become a promising approach towards identifying biomarkers of neuropsychiatric disorders including autism spectrum disorder (ASD). Epigenetic markers capture genetic risk factors and diverse exogenous and endogenous factors, including environmental risk factors and complex disease pathologies. We analysed the differential methylation profile of a regulatory region of the GAD1 gene using cerebral organoids generated from induced pluripotent stem cells (iPSCs) from adults with a diagnosis of ASD and from age- and gender-matched healthy individuals. Both groups showed high levels of methylation across the majority of CpG sites within the profiled GAD1 region of interest. The ASD group exhibited a higher number of unique DNA methylation patterns compared to controls and an increased CpG-wise variance. We detected six differentially methylated CpG sites in ASD, three of which reside within a methylation-dependent transcription factor binding site. In ASD, GAD1 is subject to differential methylation patterns that may not only influence its expression, but may also indicate variable epigenetic regulation among cells.
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31. Silvera-Tawil D, Bruck S, Xiao Y, Bradford D. Socially-Assistive Robots to Support Learning in Students on the Autism Spectrum: Investigating Educator Perspectives and a Pilot Trial of a Mobile Platform to Remove Barriers to Implementation. Sensors (Basel);2022 (Aug 16);22(16)
Technology offers educators tools that can tailor learning to students’ learning styles and interests. Research into the use of socially-assistive robots as a learning support for children on the autism spectrum are showing promising results. However, to date, few schools have introduced these robots to support learning in students on the autism spectrum. This paper reports on a research project that investigated the barriers to implementing socially-assistive robot supported learning, and the expectations, perceived benefits and concerns of school teachers and therapists of students on the autism spectrum and adults on the autism spectrum. First, three focus groups were conducted with six adults on the autism spectrum, and 13 teachers and therapists of students from two autism-specific schools. During the focus groups, there was cautious optimism from participants about the value of socially-assistive robots for teaching support. While the data showed that participants were in favour of trialling socially-assistive robots in the classroom, they also raised several concerns and potential barriers to implementation, including the need for teacher training. In response to their concerns, the second part of the project focussed on developing a software platform and mobile application (app) to support the introduction of robots into autism-specific classrooms. The software platform and app were then trialled in two schools (n = 7 teachers and therapists). Results from focus groups indicated that participants believe socially-assistive robots could be useful for learning support, as the mobile app provides an easy to use tool to support preparing and conducting lessons that would motivate them to trial robots in the classroom.
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32. Sinnamon JR, Jacobson ME, Yung JF, Fisk JR, Jeng S, McWeeney SK, Parmelee LK, Chan CN, Yee SP, Mandel G. Targeted RNA editing in brainstem alleviates respiratory dysfunction in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A;2022 (Aug 16);119(33):e2206053119.
Rett syndrome is a neurological disease due to loss-of-function mutations in the transcription factor, Methyl CpG binding protein 2 (MECP2). Because overexpression of endogenous MECP2 also causes disease, we have exploited a targeted RNA-editing approach to repair patient mutations where levels of MECP2 protein will never exceed endogenous levels. Here, we have constructed adeno-associated viruses coexpressing a bioengineered wild-type ADAR2 catalytic domain (Editase(wt)) and either Mecp2-targeting or nontargeting gfp RNA guides. The viruses are introduced systemically into male mice containing a guanosine to adenosine mutation that eliminates MeCP2 protein and causes classic Rett syndrome in humans. We find that in the mutant mice injected with the Mecp2-targeting virus, the brainstem exhibits the highest RNA-editing frequency compared to other brain regions. The efficiency is sufficient to rescue MeCP2 expression and function in the brainstem of mice expressing the Mecp2-targeting virus. Correspondingly, we find that abnormal Rett-like respiratory patterns are alleviated, and survival is prolonged, compared to mice injected with the control gfp guide virus. The levels of RNA editing among most brain regions corresponds to the distribution of guide RNA rather than Editase(wt). Our results provide evidence that a targeted RNA-editing approach can alleviate a hallmark symptom in a mouse model of human disease.
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33. Svalina MN, Rio CC, Kushner JK, Levy A, Baca SM, Guthman EM, Opendak M, Sullivan R, Restrepo D, Huntsman MM. Basolateral amygdala hyperexcitability is associated with precocious developmental emergence of fear-learning in Fragile X Syndrome. J Neurosci;2022 (Aug 12)
Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the most common monogenic cause of intellectual disability, autism spectrum disorders (ASDs) and anxiety disorders. Loss of fragile x mental retardation protein (FMRP) results in disruptions of synaptic development during a critical period (CP) of circuit formation in the basolateral amygdala (BLA). However, it is unknown how these alterations impact microcircuit development and function. Using a combination of electrophysiologic and behavioral approaches in both male (Fmr1-/y) and female (Fmr1-/-) mice, we demonstrate that principal neurons (PNs) in the Fmr1KO BLA exhibit hyperexcitability during a sensitive period in amygdala development. This hyperexcitability contributes to increased excitatory gain in fear-learning circuits. Further, synaptic plasticity is enhanced in the BLA of Fmr1KO mice. Behavioral correlation demonstrates that fear-learning emerges precociously in the Fmr1KO mouse. Early life THIP intervention ameliorates fear-learning in Fmr1KO mice. These results suggest that CP plasticity in the amygdala of the Fmr1KO mouse may be shifted to earlier developmental timepoints.SIGNIFICANCE STATEMENTIn these studies we identify early developmental alterations in principal neurons in the FXS BLA. We show that as early as P14, excitability and feed-forward excitation, and synaptic plasticity is enhanced in Fmr1KO lateral amygdala. This correlates with precocious emergence of fear-learning in the Fmr1KO mouse. Early life THIP intervention restores CP plasticity in WT mice and ameliorates fear-learning in the Fmr1KO mouse.
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34. Thapar A, Livingston LA, Eyre O, Riglin L. Practitioner Review: Attention-deficit hyperactivity disorder and autism spectrum disorder – the importance of depression. J Child Psychol Psychiatry;2022 (Aug 16)
Young people with neurodevelopmental disorders, such as attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), show high rates of mental health problems, of which depression is one of the most common. Given that depression in ASD and ADHD is linked with a range of poor outcomes, knowledge of how clinicians should assess, identify and treat depression in the context of these neurodevelopmental disorders is much needed. Here, we give an overview of the latest research on depression in young people with ADHD and ASD, including possible mechanisms underlying the link between ADHD/ASD and depression, as well as the presentation, assessment and treatment of depression in these neurodevelopmental disorders. We discuss the implications for clinicians and make recommendations for critical future research in this area.
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35. Vale AP, Fernandes C, Cardoso S. Word reading skills in autism spectrum disorder: A systematic review. Front Psychol;2022;13:930275.
A growing body of research suggests that children with autism spectrum disorder (ASD) are at risk of reading and learning difficulties. However, there is mixed evidence on their weaknesses in different reading components, and little is known about how reading skills characterize in ASD. Thereby, the current study aimed to systematically review the research investigating this function in children with ASD. To this purpose, we reviewed 24 studies that compared (1) children with ASD and children with typical development (TD) in word and nonword reading performance, (2) children with ASD and normative data of word and nonword reading tests, and (3) the results obtained by children with ASD in word and nonword reading tests. Most of the comparisons (62%) contrasting the reading performance of children with ASD and children with TD did not find significant differences between groups in both word and nonword reading. However, all the comparisons that reported standardized results showed that children with ASD had scores that fell within population norms. Regarding the third comparison of interest, about 54% of the studies presented data for both word and nonword reading, but only one study tested the difference between them and showed that children with ASD had higher levels of word than of nonword reading. Despite these results, the heterogeneous and small samples do not allow to draw sound conclusions regarding the strategies that children with ASD use to read words. As consequence, the nature of reading difficulties presented by children with ASD are still unknown, requiring future research conducted with larger and well-characterized samples of ASD and TD, using homogeneous specific tasks designed to assess word reading strategies.
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36. Zakai-Mashiach M. « I Was Like a Bird Without Wings »: Autistic Women’s Retrospective Experiences in General Schools. J Autism Dev Disord;2022 (Aug 16)
Autistic individuals’ experience of the inclusion process is poorly understood, especially that of female pupils. This study retrospectively explored the views of autistic women who were included in general schools throughout childhood and adolescence, from elementary to high school, to understand their unique experiences and learn more about their needs in general schools. Semi-structured interviews were conducted, data were thematically analyzed, and key issues emerged pertaining to each educational level. The women described a complex journey within the general education system. Their responses highlight the need for greater attention to autistic females’ patterns of behavior in research and practice. Implications and recommendations for educators and schools are provided, and directions for future research are outlined.
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37. Zheng S, Kaat A, Farmer C, Thurm A, Burrows CA, Kanne S, Georgiades S, Esler A, Lord C, Takahashi N, Nowell KP, Will E, Roberts J, Bishop SL. Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders. Front Psychol;2022;13:927847.
Increasing numbers of children with known genetic conditions and/or intellectual disability are referred for evaluation of autism spectrum disorder (ASD), highlighting the need to refine autism symptom measures to facilitate differential diagnoses in children with cognitive and language impairments. Previous studies have reported decreased specificity of ASD screening and diagnostic measures in children with intellectual disability. However, little is known about how cognitive and language abilities impact the measurement of specific ASD symptoms in this group. We aggregated a large sample of young children (N = 1196; aged 31-119 months) to examine measurement invariance of ASD symptoms among minimally verbal children within the context of the Autism Diagnostic Observation Schedule (ADOS) Module 1. Using confirmatory factor analysis (CFA) and moderated non-linear factor analysis (MNLFA), we examined how discrete behaviors were differentially associated with the latent symptom domains of social communication impairments (SCI) and restricted and repetitive behaviors (RRB) across spoken language levels and non-verbal mental age groupings. While the two-factor structure of SCI and RRB held consistently across language and cognitive levels, only partial invariance was observed for both ASD symptom domains of SCI and RRB. Specifically, four out of the 15 SCI items and one out of the three RRB items examined showed differential item functioning between children with « Few to No Words » and those with « Some Words »; and one SCI item and one RRB item showed differential item functioning across non-verbal mental age groups. Moreover, even after adjusting for the differential item functioning to reduce measurement bias across groups, there were still differences in ASD symptom domain scores across spoken language levels. These findings further underscore the influence of spoken language level on measurement of ASD symptoms and the importance of measuring ASD symptoms within refined spoken language levels, even among those with minimal verbal abilities.