Pubmed du 17/01/23
1. Adams L, Adamo N, Hollocks MJ, Watson J, Brewster A, Valmaggia L, Jewitt E, Edwards J, Krisson M, Simonoff E. Autistic young people’s experiences of remote psychological interventions during COVID-19. Autism : the international journal of research and practice. 2023: 13623613221142730.
Recently, therapy has been delivered at a distance (i.e. remotely) to help control the spread of coronavirus. Clinicians have voiced concerns that remote delivery is unsuitable for certain individuals, including those who are autistic, but they have also highlighted potential benefits for autistic individuals. Benefits include some individuals feeling more comfortable receiving therapy at home. This is the first study to interview autistic individuals about their experience of remote therapy. Participants were six young people aged 15-18 years and eight clinicians. Participants described their experience of remote delivery, including challenges, benefits, and suggestions. Most of these supported previous research findings, but some were new or provided further insight into those already identified. A newly identified challenge was knowing online social etiquette. All participants found aspects of the experience challenging, but all identified benefits and most voiced that remote sessions should be offered to young people. Participants further identified individual characteristics that may make someone less suited to remote delivery (e.g. shyness). They also identified ways of making the experience of remote delivery easier (e.g. sitting with a pet). Young people’s and clinicians’ views were similar overall, with only subtle differences. For example, young people uniquely voiced that remote delivery was similar to in-person, that benefits were hard to identify, and provided distinct reasons for the social interaction feeling less intense remotely. Findings may be used to improve remote delivery, for guiding future research, and as a case for continuing to offer it to those who may most benefit.
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2. Banarjee C, Tao Y, Fasano RM, Song C, Vitale L, Wang J, Shyu ML, Perry LK, Messinger DS. Objective quantification of homophily in children with and without disabilities in naturalistic contexts. Scientific reports. 2023; 13(1): 903.
Homophily, the tendency for individuals to preferentially interact with others similar to themselves is typically documented via self-report and, for children, adult report. Few studies have investigated homophily directly using objective measures of social movement. We quantified homophily in children with developmental disabilities (DD) and typical development (TD) using objective measures of position/orientation in preschool inclusion classrooms, designed to promote interaction between these groups of children. Objective measurements were collected using ultra-wideband radio-frequency tracking to determine social approach and social contact, measures of social movement and interaction. Observations of 77 preschoolers (47 with DD, and 30 TD) were conducted in eight inclusion classrooms on a total of 26 days. We compared DD and TD groups with respect to how children approached and shared time in social contact with peers using mixed-effects models. Children in concordant dyads (DD-DD and TD-TD) both moved toward each other at higher velocities and spent greater time in social contact than discordant dyads (DD-TD), evidencing homophily. DD-DD dyads spent less time in social contact than TD-TD dyads but were comparable to TD-TD dyads in their social approach velocities. Children’s preference for similar peers appears to be a pervasive feature of their naturalistic interactions.
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3. Bylemans T, Heleven E, Baetens K, Deroost N, Baeken C, Van Overwalle F. Mentalizing and narrative coherence in autistic adults: Cerebellar sequencing and prediction. Neuroscience and biobehavioral reviews. 2023; 146: 105045.
BYLEMANS, T., et al. Mentalizing and narrative coherence in autistic adults: Cerebellar sequencing and prediction. NEUROSCI BIOBEHAV REV, 2022. – This review focuses on autistic adults and serves 4 purposes: (1) providing an overview of their difficulties regarding mentalizing (understanding others’ mental states) and narrative coherence (structured storytelling), (2) highlighting the relations between both skills by examining behavioral observations and shared neural substrates, (3) providing an integrated perspective regarding novel diagnostic tools and support services, and (4) raising awareness of adult autism. We suggest that mentalizing and narrative coherence are related at the behavioral level and neural level. In addition to the traditional mentalizing network, the cerebellum probably serves as an important hub in shared cerebral networks implicated in mentalizing and narrative coherence. Future autism research and support services should tackle new questions within a framework of social cerebellar (dys)functioning.
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4. Casseus M, Kim WJ, Horton DB. Prevalence and treatment of mental, behavioral, and developmental disorders in children with co-occurring autism spectrum disorder and attention-deficit/hyperactivity disorder: A population-based study. Autism research : official journal of the International Society for Autism Research. 2023.
There is a lack of nationally representative studies examining the co-occurrence of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children. This study examines comorbid mental, behavioral, and developmental disorders (MBDDs) and associated treatment modalities for children with co-occurring ASD and ADHD. Cross-sectional analyses were conducted using data from the pooled 2016-2018 National Survey of Children’s Health (sample n = 102,341). Nationally representative prevalences were estimated for sociodemographic variables, comorbidities, psychotropic medication, and behavioral treatment. We assessed multivariable associations between co-occurring ASD + ADHD and MBDDs, use of psychotropic medication, and receipt of behavioral treatment after adjustment for sociodemographic confounders. Compared to children with ASD without co-occurring ADHD, children with ASD + ADHD had higher prevalence of most MBDDs, including anxiety (AOR 4.03 [95% CI 2.77, 4.87]), depression (AOR 3.08 [95% CI 1.77, 5.36]), behavior or conduct problems (AOR 4.06 [95% CI 2.72, 6.06]), and other mental health conditions. Similarly, compared to children with ADHD without ASD, children with ASD + ADHD had higher odds of anxiety (AOR 3.49 [95% CI 2.65, 4.61]), depression (AOR 1.67 [95% CI 1.21, 2.29]), behavior or conduct problems (AOR 2.31 [95% CI 1.68, 3.17]), and other mental health conditions. Children with ASD + ADHD were significantly more likely to take psychotropic medication than children with ASD without ADHD. Among children with ASD + ADHD, males had higher odds of receiving behavioral treatment, whereas older children and adolescents were more likely to take psychotropic medication. A multidisciplinary approach is necessary to support the complex needs of these children.
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5. Donaldson AL, Corbin E, Zisk AH, Eddy B. Promotion of Communication Access, Choice, and Agency for Autistic Students. Language, speech, and hearing services in schools. 2023; 54(1): 140-55.
PURPOSE: Families and professionals often consider augmentative and alternative communication (AAC) a « last resort » for persons with communication challenges; however, speaking autistic adults have reported that they would have benefited from access to AAC as children. This tutorial discusses the history of this « last resort » practice and its perpetuation within the medical model of disability. The tutorial focuses on communication access, choice, and agency for autistic students. METHOD: We provide a brief overview of the AAC community and their preferred terminology, review the history of traditional approaches to research on AAC and autism, and then examine the relationship between disability models and ableism to views of spoken language as a priority of intervention. Studies on this topic are rare, and resisting ableism requires acknowledging and honoring disabled people’s experiences and expertise. Therefore, we promote autistic expertise within the framework of evidence-based practice and discuss the experiences of autistic people and spoken language. Finally, we consider the role of the speech-language pathologist (SLP) in assessment and offer autistic-based strategies and recommendations for communication support. CONCLUSIONS: Speaking autistic students who could benefit from AAC may not have access to AAC due to the prioritization of spoken language and lack of awareness of the benefit of AAC. We recommend that SLPs and school-based professionals support and facilitate access, communicative choice, and agency by implementing multimodal communication strategies to include AAC use for autistic students regardless of their spoken language status. Promoting all types of communication and ensuring opportunities for communication across multiple modalities are paramount to a child’s agency and self-determination, as is normalization of AAC.
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6. Greco G, Choi B, Michel K, Faja S. Here’s the Story: Narrative Ability and Executive Function in Autism Spectrum Disorder. Research in autism spectrum disorders. 2023; 101.
BACKGROUND: Difficulties with narrative have been reported in individuals diagnosed with autism spectrum disorder (ASD), but the role of executive function on narrative ability has not been examined in ASD. In this study, we aimed to (1) examine whether narrative abilities of ASD children differed from neurotypical (NT) children who did not differ in age, sex, and IQ; and (2) investigate relations between executive function and narrative ability in ASD children. METHOD: Narratives were elicited from 64 ASD children and 26 NT children using a wordless picture book and coded to derive several aspects of narrative ability such as propositions, evaluative devices, and self-repairs. Executive functions (specifically, inhibition and working memory) were measured using both experimenter-administered assessment and parent-report measures. RESULTS: Compared to NT children, ASD children produced fewer propositions but did not differ in their use of evaluative devices and self-repairs during narrative production. Greater inhibitory challenges related to more self-repairs involving repetition of story elements, whereas working memory did not relate to any of the measures of narrative ability among ASD children. CONCLUSIONS: This study revealed that narratives by verbally fluent ASD children were shorter and less complex than those by NT children but did not differ in the specific features of narratives. Furthermore, although ASD children did not make more self-repairs than NT children, difficulty with inhibition was related to more self-repairs, indicating more dysfluent narrative production in ASD children, which has implications for intervention.
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7. Hagopian LP, Kurtz PF, Bowman LG, O’Connor JT, Cataldo MF. A Neurobehavioral Continuum of Care for Individuals with Intellectual and Developmental Disabilities with Severe Problem Behavior. Children’s health care : journal of the Association for the Care of Children’s Health. 2023; 52(1): 45-69.
The Neurobehavioral Programs at Kennedy Krieger Institute constitute a comprehensive continuum of care designed to serve individuals with intellectual and developmental disabilities with co-occurring problem behavior. This continuum includes inpatient, intensive outpatient, outpatient, consultation, and follow-up services. The mission of these programs is to fully integrate patient care, research, training, and advocacy to achieve the best possible outcomes with patients, and to benefit the broader community of individuals with severe behavioral dysfunction. The primary treatment approach utilized across all programs is applied behavior analysis, however the inpatient unit also provides fully integrated interdisciplinary care. Factors driving the development and expansion of these programs are described, as are the processes and systems by which the mission objectives are achieved.
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8. Hargitai LD, Livingston LA, Waldren LH, Robinson R, Jarrold C, Shah P. Attention-deficit hyperactivity disorder traits are a more important predictor of internalising problems than autistic traits. Scientific reports. 2023; 13(1): 31.
Autism Spectrum Disorder (ASD) and Attention-Deficit Hyperactivity Disorder (ADHD) are both linked to internalising problems like anxiety and depression. ASD and ADHD also often co-occur, making their individual statistical contributions to internalising disorders difficult to investigate. To address this issue, we explored the unique associations of self-reported ASD traits and ADHD traits with internalising problems using a large general population sample of adults from the United Kingdom (N = 504, 49% male). Classical regression analyses indicated that both ASD traits and ADHD traits were uniquely associated with internalising problems. Dominance and Bayesian analyses confirmed that ADHD traits were a stronger, more important predictor of internalising problems. However, brief depression and anxiety measures may not provide a comprehensive index of internalising problems. Additionally, we focused on recruiting a sample that was representative of the UK population according to age and sex, but not ethnicity, a variable that may be linked to internalising disorders. Nevertheless, our findings indicate that while ASD and ADHD uniquely predict internalising problems, ADHD traits are a more important statistical predictor than ASD traits. We discuss potential mechanisms underlying this pattern of results and the implications for research and clinical practice concerning neurodevelopmental conditions.
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9. Jacob SG, Sulaiman M, Bennet B. Feature Signature Discovery for Autism Detection: An Automated Machine Learning Based Feature Ranking Framework. Computational intelligence and neuroscience. 2023; 2023: 6330002.
Autism spectrum disorder is the most used umbrella term for a myriad of neuro-degenerative/developmental conditions typified by inappropriate social behavior, lack of communication/comprehension skills, and restricted mental and emotional maturity. The intriguing factor of this disorder is attributed to the fact that it can be detected only by close monitoring of developmental milestones after childbirth. Moreover, the exact causes for the occurrence of this neurodevelopmental condition are still unknown. Besides, autism is prevalent across individuals irrespective of ethnicity, genetic/familial history, and economic/educational background. Although research suggests that autism is genetic in nature and early detection of this disorder can greatly enhance the independent lifestyle and societal adaptability of affected individuals, there is still a great dearth of information to support the statement of proven facts and figures. This research work places emphasis on the application of automated machine learning incorporated with feature ranking techniques to generate significant feature signatures for the early detection of autism. Publicly available datasets based on the Q-chat scores of individuals across diverse age groups-toddlers, children, adolescents, and adults have been employed in this study. A machine learning framework based on automated hyperparameter optimization is proposed in this work to rank the potential nonclinical markers for autism. Moreover, this study aimed at ranking the AutoML models based on Mathew’s correlation coefficient and balanced accuracy via which nonclinical markers were identified from these datasets. Besides, the feature signatures and their significance in distinguishing between classes are being reported for the first time in autism detection. The proposed framework yielded ∼90% MCC and ∼95% balanced accuracy across all four age groups of autism datasets. Deep learning approaches have yielded a maximum of 92.7% accuracy on the same datasets but are limited in their ability to extract significant markers, have not reported on MCC for unbalanced data, and cannot adapt automatically to new data entries. However, AutoML approaches are more flexible, easier to implement, and provide automated optimization, thereby yielding the highest accuracy with minimal user intervention.
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10. Lamash L, Gal E, Bedell G. Social Participation and Navigation: Formative Evaluation of a Remote Intervention for Autistic Adolescents and Young Adults. OTJR : occupation, participation and health. 2023: 15394492221146726.
Remote interventions can uniquely benefit and significantly increase the motivation/engagement of autistic adolescents and young adults (AYA) in intervention processes. The evidence-based, technology-based Social Participation and Navigation (SPAN), originally a remote intervention for AYA with traumatic brain injuries, shows great promise for autistic AYA. This formative evaluation aimed to inform SPAN adaptations for autistic AYA. Fifteen researcher and clinician stakeholders provided feedback and modification recommendations via a semistructured interview. Stakeholders described potential participants who might benefit, intervention goals, intervention delivery procedures, and additional program-content and technology suggestions, including original components to preserve or adjust. Findings provided a basis for developing a new SPAN-ASD website and intervention manual. The next steps include assessing website usability and feasibility and a pilot implementation study of SPAN-ASD with autistic AYA.
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11. LaSalle JM. Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder. Molecular psychiatry. 2023.
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental outcomes in children with a commonality in deficits in social communication and language combined with repetitive behaviors and interests. The etiology of ASD is heterogeneous, as several hundred genes have been implicated as well as multiple in utero environmental exposures. Over the past two decades, epigenetic investigations, including DNA methylation, have emerged as a novel way to capture the complex interface of multivariate ASD etiologies. More recently, epigenome-wide association studies using human brain and surrogate accessible tissues have revealed some convergent genes that are epigenetically altered in ASD, many of which overlap with known genetic risk factors. Unlike transcriptomes, epigenomic signatures defined by DNA methylation from surrogate tissues such as placenta and cord blood can reflect past differences in fetal brain gene transcription, transcription factor binding, and chromatin. For example, the discovery of NHIP (neuronal hypoxia inducible, placenta associated) through an epigenome-wide association in placenta, identified a common genetic risk for ASD that was modified by prenatal vitamin use. While epigenomic signatures are distinct between different genetic syndromic causes of ASD, bivalent chromatin and some convergent gene pathways are consistently epigenetically altered in both syndromic and idiopathic ASD, as well as some environmental exposures. Together, these epigenomic signatures hold promising clues towards improved early prediction and prevention of ASD as well genes and gene pathways to target for pharmacological interventions. Future advancements in single cell and multi-omic technologies, machine learning, as well as non-invasive screening of epigenomic signatures during pregnancy or newborn periods are expected to continue to impact the translatability of the recent discoveries in epigenomics to precision public health.
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12. Lipkin WI, Bresnahan M, Susser E. Cohort-guided insights into gene-environment interactions in autism spectrum disorders. Nature reviews Neurology. 2023: 1-8.
Prospective birth cohorts offer unprecedented opportunities to investigate the pathogenesis of complex disorders such as autism, in which gene-environment interactions must be appreciated in a temporal context. This Perspective article considers the history of autism research, including missteps that reflected an incomplete understanding of the epidemiology of autistic spectrum disorders, the effects of advocacy and philanthropy on the trajectory of scientific inquiry, and the current and future roles of prospective birth cohort research in illuminating the pathology of these and other complex disorders wherein exposures during gestation might not manifest until later in life.
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13. Manopetchkasem A, Srimaneekarn N, Leelataweewud P, Smutkeeree A. Influence of past advanced behavior guidance experience on parental acceptance for autistic individuals in the dental setting. BMC oral health. 2023; 23(1): 23.
BACKGROUND: Autism is a lifelong neurodevelopmental disorder that poses challenges during dental treatment. Advanced behavior guidance techniques (BGTs) have been used to provide dental care for autistic people who have specific characteristics and complex dental treatment. This study was conducted to evaluate parental acceptance and analyze parents’ opinions of advanced BGTs during dental treatment in autistic people. METHODS: This cross-sectional study was conducted on 141 parents of autistic people from the Mahidol Dental Hospital and the Autism online community. Informed consent was obtained before enrolling participants in the study. All parents were asked to rate their acceptance after watching VDO clips: passive restraint by device (PRBD), oral sedation (OS), and general anesthesia (GA) to evaluate parental acceptance of advanced BGTs through an online questionnaire survey. The online questionnaire included a visual analog scale (VAS) and open-ended questions to collect their opinions on each advanced BGT. Participants were categorized into two subgroups as follows: 81 in the « Experience group » and 60 in the « No experience group » according to their autistic people’ advanced BGT experience. Friedman’s two-way analysis of variance and the Mann-Whitney U test were used for statistical analyses. Open-ended questions were analyzed using quantitative content analysis. RESULTS: PRBD was ranked the highest, followed by GA and OS. Parents in the « Experience group » rated significantly higher acceptance of their BGT experience than parents in the « No experience group » in all the three advanced BGTs. CONCLUSIONS: All advanced BGTs were particularly accepted in this study. Previous experience of advanced BGTs had an influence on parental acceptance. Parents commented on their opinions toward each advanced BGT with a variety of perspectives. TRIAL REGISTRATION: The protocol was approved by the ethical committee of the Faculty of Dentistry/Faculty of Pharmacy, Mahidol University (COA.No.MU-DT/PY-IRB 2021/022.1702) and was registered with Thai Clinical Trials Registry (TCTR20220521001).
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14. Mao S, Fan X, Ma Y, Chen Y, Lv J, Yang R. Knowledge and beliefs about autism spectrum disorders among physicians: a cross-sectional survey from China. BMJ paediatrics open. 2022; 6(1).
BACKGROUND: The incidence of autism spectrum disorders (ASDs) is increasing greatly, with high demands for earlier diagnosis and intervention. However, little is known about ASD knowledge and beliefs among physicians in China. METHODS: A questionnaire survey was used to assess the knowledge and beliefs about the diagnosis and management of ASD and 24 beliefs regarding the treatment and prognostic aspects of ASD among physicians of any medical specialty in China. RESULTS: A total of 1160 physicians were recruited and surveyed, with an average score of 8.48±2.66 (total of 18 points) for the questionnaire on the main symptoms of ASD and 14.35±3.69 (total of 24 points) for beliefs about ASD. Physicians’ age, sex, specialty and practice years were related to their knowledge of identifying patients with ASD. Physicians specialising in paediatrics/psychology/psychiatry scored higher than those specialising in other specialties both in response to diagnostic questions (8.98±2.63 vs 8.30±2.65, p<0.001) and beliefs about ASD (15.57±3.44 vs 13.97±3.97, p<0.001). CONCLUSIONS: Knowledge and beliefs about ASD symptoms, diagnosis and treatment are insufficient among physicians in China. Education and training programmes on this topic should be enhanced in physicians of all specialties, especially for male physicians who have short years in practice.
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15. Peries M, Duhr F, Picot MC, Heude B, Bernard JY, Baghdadli A. Breastfeeding is not a risk factor for clinical severity in Autism spectrum disorder in children from the ELENA cohort. Scientific reports. 2023; 13(1): 816.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results from a complex interaction between genes and environment. Breastfeeding (BF) is thought to promote healthy cognitive development, and a body of research has suggested that it may also protect against ASD. Our objectives were to identify the relationship between the initiation and duration of BF and the severity of clinical presentation in ASD. Data were collected from 243 children with a confirmed diagnosis of ASD followed in the ELENA cohort. Clinical severity was measured according to multiple dimensions using standardised tools. The frequency of the initiation of BF was comparable to that of the general population and the rate of children still being breastfed at six months of age was higher. Our results did not indicate a contribution of initiation or duration of BF to the prevention of clinical severity of ASD. We discuss our results in the light of possible methodological limitations of previous reports of an association between BF and ASD.Clinical Trial Registration: NCT02625116.
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16. Ravaei A, Emanuele M, Nazzaro G, Fadiga L, Rubini M. Placental DNA methylation profile as predicting marker for autism spectrum disorder (ASD). Molecular medicine (Cambridge, Mass). 2023; 29(1): 8.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impairs normal brain development and socio-cognitive abilities. The pathogenesis of this condition points out the involvement of genetic and environmental factors during in-utero life. Placenta, as an interface tissue between mother and fetus, provides developing fetus requirements and exposes it to maternal environment as well. Therefore, the alteration of DNA methylation as epigenetic consequence of gene-environmental interaction in the placenta could shed light on ASD pathogenesis. In this study, we reviewed the current findings on placental methylation status and its association with ASD. Differentially methylated regions (DMRs) in ASD-developing placenta were found to be mainly enriched in ASD gene loci affecting synaptogenesis, microtubule dynamics, neurogenesis and neuritogenesis. In addition, non-genic DMRs in ASD-placenta proposes an alternative contributing mechanism for ASD development. Our study highlights the importance of placental DNA methylation signature as a biomarker for ASD prediction.
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17. Santhanam SP. An Interactive and Neurodiversity-Affirming Approach to Communication Supports for Autistic Students Through Videogaming. Language, speech, and hearing services in schools. 2023; 54(1): 120-39.
PURPOSE: Videogaming offers an interactive, enjoyable, and socially valid context for interaction between autistic and non-autistic students in schools. In this tutorial, I describe an approach that supports communication and peer interaction through group-based videogaming. This approach creates an opportunity for autistic and non-autistic students to engage in a meaningful and enjoyable activity and to promote acceptance and appreciation of communication differences. METHOD: This tutorial includes development, planning, essential components, goal writing, and a list of resources and directions to implement the videogaming-based group intervention in middle and high school settings. This tutorial is grounded in a supports-based, anti-ableist, neurodiversity framework that embraces a difference-based view of autistic communication. Cost-effectiveness and ease of implementation make this intervention feasible for school settings. CONCLUSIONS: Ableist practices are pervasive in academic and clinical settings. There is an urgency within the field of speech-language pathology to address misconceptions regarding autism and autistic individuals, increase the understanding and appreciation of diversity in autistic communication, and eliminate practices that may promote autistic masking. These can be achieved by developing supports that value the preferences and experiences of autistic individuals and honor their strengths. Videogaming is one context that supports social communication. It does not hinge upon normative communication as a benchmark. Increased contact and exposure to autistic peers through fun and engaging game-based interactions help reduce stigma and prejudice toward autistic students.
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18. Shaw KA, Williams S, Hughes MM, Warren Z, Bakian AV, Durkin MS, Esler A, Hall-Lande J, Salinas A, Vehorn A, Andrews JG, Baroud T, Bilder DA, Dimian A, Galindo M, Hudson A, Hallas L, Lopez M, Pokoski O, Pettygrove S, Rossow K, Shenouda J, Schwenk YD, Zahorodny W, Washington A, Maenner MJ. Statewide county-level autism spectrum disorder prevalence estimates – seven U.S. states, 2018. Annals of epidemiology. 2023.
PURPOSE: Autism spectrum disorder (ASD) prevalence information is necessary for identifying community needs such as addressing disparities in identification and services. METHODS: Seven Autism and Developmental Disabilities Monitoring (ADDM) Network sites participated in a pilot project to link statewide health and education data to generate county-level prevalence estimates for a broader age range for their states for the first time. RESULTS: Statewide prevalence of ASD for ages 3-21 years in 2018 ranged from 1.5% in Tennessee and Wisconsin to 2.3% in Arizona. The median county-level prevalence of ASD was 1.4% of residents ages 3-21 years. More boys than girls had ASD at all sites, and prevalence was lower among non-Hispanic Black (Black), Hispanic, Asian/Pacific Islander (A/PI), and American Indian/Alaska Native (AI/AN) residents compared to non-Hispanic White (White) residents at most sites. ASD prevalence estimates for children aged 8 years were similar to 2018 ADDM Network estimates that used record review to provide more in-depth information, but showed greater variation for children aged 4 years. CONCLUSION: Linkage of statewide data sets provides less detailed but actionable local information when more resource-intensive methods are not possible.
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19. Sheth F, Shah J, Patel K, Patel D, Jain D, Sheth J, Sheth H. A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report. BMC neurology. 2023; 23(1): 20.
INTRODUCTION: NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous variant in the NEUROG1 gene with autism as an additional phenotype. A brief review of the literature in conjunction with a genotype-phenotype correlation has been described. A potential hypothesis for the presence of the autistic phenotype in the present case has also been elucidated. CASE PRESENTATION: A female aged 6 years and 9 months born to endogamous and phenotypically healthy parents was diagnosed with global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her MRI of the brain revealed mild peritrigonal white matter hyperintensity, and MRI and CT scan of the temporal bones showed abnormal cranial nerves. The proband’s younger sister, aged 4-years, was similarly affected. Whole exome sequencing was performed in the proband, which revealed a novel homozygous, likely pathogenic, truncating frameshift variant, c.228_231dup (p.Thr78ProfsTer122) in exon 1 of the NEUROG1 gene (ENST00000314744.4). Segregation analysis by Sanger sequencing showed the proband and her younger sister to be homozygotes and their parents to be heterozygous carriers. CONCLUSION: This is the fourth report across the globe with a variant identified in the NEUROG1 gene to be associated with cranial dysinnervation phenotype. An additional phenotype of autism in two female siblings was a novel observation. We provide a hypothetical framework which could explain the pleiotropic effect of a dysfunctional NEUROG1 protein leading to autism and posit it as a candidate for diagnosis of autism spectrum disorder with congenital cranial dysinnervation disorder.
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20. Tomaiuolo P, Piras IS, Sain SB, Picinelli C, Baccarin M, Castronovo P, Morelli MJ, Lazarevic D, Scattoni ML, Tonon G, Persico AM. RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder. Scientific reports. 2023; 13(1): 807.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with onset in early childhood, still diagnosed only through clinical observation due to the lack of laboratory biomarkers. Early detection strategies would be especially useful in screening high-risk newborn siblings of children already diagnosed with ASD. We performed RNA sequencing on peripheral blood, comparing 27 pairs of ASD children vs their sex- and age-matched unaffected siblings. Differential gene expression profiling, performed applying an unpaired model found two immune genes, EGR1 and IGKV3D-15, significantly upregulated in ASD patients (both p adj = 0.037). Weighted gene correlation network analysis identified 18 co-expressed modules. One of these modules was downregulated among autistic individuals (p = 0.035) and a ROC curve using its eigengene values yielded an AUC of 0.62. Genes in this module are primarily involved in transcriptional control and its hub gene, RACK1, encodes for a signaling protein critical for neurodevelopment and innate immunity, whose expression is influenced by various hormones and known « endocrine disruptors ». These results indicate that transcriptomic biomarkers can contribute to the sensitivity of an intra-familial multimarker panel for ASD and provide further evidence that neurodevelopment, innate immunity and transcriptional regulation are key to ASD pathogenesis.
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21. Vidal VG, Wachholtz DP, Mattie LJ, DeThorne LS. It Takes a Community: How Environmental Systems Construct (In)Competence in Autistic Peer Interactions. Language, speech, and hearing services in schools. 2023; 54(1): 63-81.
PURPOSE: This study aims to illustrate how environmental systems shape the peer interactions of an autistic student within the classroom. METHOD: Drawing on the bioecological model of human development, this situated discourse analysis used thematic coding and microanalysis to examine data from semistructured interviews and 10 sessions of direct classroom observations of a 9-year-old autistic student and his classroom communication partners. RESULTS: Convergent data across participants, time, and data sources revealed the following systemic influences on peer interaction: predominant medicalized view of autism (macrosystem), educational practices (exosystem), misaligned roles across adults and peers in the classroom (mesosystem), and multimodal opportunities for direct interaction that were supported by objects and physical contact and inhibited by rapid pacing (microsystem). CONCLUSIONS: Findings illustrate the environmental complexities associated with the development of peer interactions for autistic students. We offer explicit clinical implications for how environmental factors can be addressed in the school-based eligibility determination process and in the Individualized Education Program.
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22. Wei Q, Xu X, Xu X, Cheng Q. Early identification of autism spectrum disorder by multi-instrument fusion: A clinically applicable machine learning approach. Psychiatry research. 2023; 320: 115050.
Autism spectrum disorder (ASD), developmental language disorder (DLD), and global developmental delay (GDD) are common neurodevelopmental disorders in early childhood; however, the differential diagnosis of these disorders is difficult because of overlapping symptoms. Drawing on a cohort of 2004 children with ASD, DLD, or GDD, this study developed machine learning classifiers using decision trees, support vector machines, eXtreme gradient boosting (XGB), logistic regression, and neural networks by combining several easily accessible behavioral and developmental assessment instruments. The best-performing XGB model was further simplified into a two-stage decision model (TS-DM) to achieve better interpretability. Model performance was tested and compared with that of 12 pediatricians on an external dataset of 60 children. The accuracies of the resident pediatricians, senior pediatricians, TS-DM, and XGB were 53.3%, 66.7%, 75.0%, and 78.3%, respectively. Machine learning has the potential to identify these three neurodevelopmental disorders by integrating information from multiple instruments and thereby may increase our understanding of the roles of different behavioral and developmental characteristics in the different diagnoses.
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23. Yu B, Sterponi L. Toward Neurodiversity: How Conversation Analysis Can Contribute to a New Approach to Social Communication Assessment. Language, speech, and hearing services in schools. 2023; 54(1): 27-41.
PURPOSE: The purpose of this clinical focus article was to illustrate the potential of employing conversation analysis (CA) as a method for assessing social communication that is neurodiversity affirming. METHOD: This clinical focus article will provide an overview of CA and explain how it offers a theoretically grounded means of analyzing autistic children’s everyday social interactions. Our aim is not simply to add a new assessment instrument to the disciplinary toolbox but to use the occasion to spur a reconsideration of how social communicative competence is currently conceptualized in the field and how those assumptions are reified through assessment practices. We will present a case illustration of a bilingual autistic child and his family. We will discuss the implications of a CA-informed assessment for reconceptualizing autistic social communicative competence. RESULTS: The case study illustrates the contributions of CA for (a) shifting the focus of assessment from social communication as an individual skill to social communication as an interactional achievement and (b) surfacing social communicative competencies that may be dismissed as pathologies. CONCLUSIONS: CA offers a relational understanding of autistic communication and sociality that is compatible with a critical stance on disability. Insights from CA problematize deeply entrenched notions of autism and social communication in speech-language pathology.