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Browsing by Subject "Autism spectrum disorder (ASD)"

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    A Literature Review of Similarities Between and Among Patients With Autism Spectrum Disorder and Epilepsy
    (Springer Nature, 2023-01-18) Assuah, Freda B.; Emanuel, Bryce; Lacasse, Brianna M.; Beggs, John; Lou, Jennie; Motta, Francis C.; Nemzer, Louis R.; Worth, Robert; Cravens, Gary D.; Mathematical Sciences, School of Science
    Autism spectrum disorder (ASD) has been shown to be associated with various other conditions, and most commonly, ASD has been demonstrated to be linked to epilepsy. ASD and epilepsy have been observed to exhibit high rates of comorbidity, even when compared to the co-occurrence of other disorders with similar pathologies. At present, nearly one-half of the individuals diagnosed with ASD also have been diagnosed with comorbid epilepsy. Research suggests that both conditions likely share similarities in their underlying disease pathophysiology, possibly associated with disturbances in the central nervous system (CNS), and may be linked to an imbalance between excitation and inhibition in the brain. Meanwhile, it remains unclear whether one condition is the consequence of the other, as the pathologies of both disorders are commonly linked to many different underlying signal transduction mechanisms. In this review, we aim to investigate the co-occurrence of ASD and epilepsy, with the intent of gaining insights into the similarities in pathophysiology that both conditions present with. Elucidating the underlying disease pathophysiology as a result of both disorders could lead to a better understanding of the underlying mechanism of disease activity that drives co-occurrence, as well as provide insight into the underlying mechanisms of each condition individually.
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    Direct observation in a large-scale randomized trial of parent training in children with autism spectrum disorder and disruptive behavior
    (Elsevier, 2021) Swiezy, Naomi; Smith, Tristam; Johnson, Cindy R.; Bearss, Karen; Lecavalier, Luc; Drill, Rochelle; Warner, Danielle; Deng, Yanhong; Xu, Yunshan; Dziura, James; Handen, Ben; Scahill, Lawrence; Psychiatry, School of Medicine
    A direct observation strategy (Standardized Observation Analogue Procedure, SOAP) was used in a large-scale randomized trial of parent training versus parent education in young children with autism spectrum disorder (ASD) and disruptive behavior. The 16-minute SOAP, modified from an earlier version of this same measure, included parentchild interaction to assess child behavior in a clinical laboratory setting. Despite study entry criteria for all child participants requiring moderate levels of disruptive behavior in this project, 126 of 168 children with complete SOAP data at baseline showed no disruptive behavior on this measure. Although the primary purpose of the study was to determine whether the SOAP could detect differences between the two conditions (i.e.,parent training (PT) and parent education (PE)), baseline observation data was not consistent with parent ratings at baseline or subsequent follow up visits, leaving little room to demonstrate improvement with this observation measure. This and the challenging, time-consuming and resource intensive effort involved in using such a measure in a large randomized scale trial, raises fundamental questions about the validity of the SOAP as an outcome measure in such a study. Further consideration related to the feasibility and practicality of using direct observation as a primary measure in larger scale efforts overall are also discussed.
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    Identifying Autism Spectrum Disorder in a High-risk Follow-up Program through Quality Improvement Methodology
    (Wolters Kluwer, 2024-04-03) Raches, Christine M.; Hines, Elesia N.; Hines, Abbey C.; Scott, Emily K.; Pediatrics, School of Medicine
    Introduction: Children born prematurely are at increased risk for autism spectrum disorder (ASD). ASD can be diagnosed between 18 and 24 months of age, but access barriers and medical complexity can delay diagnosis. ASD screening was implemented in a high-risk infant follow-up program using QI methodology. The project aimed to screen 60% of children and refer 90% of those with positive screens. Methods: The team developed a standardized workflow to administer the M-CHAT-R/F to HRIF patients between the ages of 16-22 months. Telehealth ASD assessment, using the TELE-ASD-PEDS, was conducted for those who screened positive. Monthly team meetings were held to implement change cycles and review the impact of the previous month's change. Results: Within 7 months of program implementation, ASD screening exceeded the 60% aim. The program referred 72% of patients who screened as medium/high risk on the M-CHAT-R/F. The remaining patients were not referred per provider discretion. Twenty-seven percent of patients who received an autism evaluation received an ASD diagnosis. The average age at diagnosis was 22.5 months. Conclusions: An ASD screening protocol was implemented for patients enrolled in a high-risk infant follow-up program. Patients identified as at risk for ASD received an expedited telehealth ASD evaluation. The screening protocol was maintained for 13 months and is now part of the standard workflow. Screening has been expanded to other HRIF clinics, and evaluation appointments have been added to meet access needs. QI methodology is an effective tool for implementing ASD screening and referral in multidisciplinary HRIF programs.
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    Probiotic and Oxytocin Combination Therapy in Patients with Autism Spectrum Disorder: A Randomized, Double-Blinded, Placebo-Controlled Pilot Trial
    (MDPI, 2021-05-05) Kong, Xue-Jun; Liu, Jun; Liu, Kevin; Koh, Madelyn; Sherman, Hannah; Liu, Siyu; Tian, Ruiyi; Sukijthamapan, Piyawat; Wang, Jiuju; Fong, Michelle; Xu, Lei; Clairmont, Cullen; Jeong, Min-Seo; Li, Alice; Lopes, Maria; Hagan, Veronica; Dutton, Tess; Chan, Suk-Tak (Phoebe); Lee, Hang; Kendall, Amy; Kwong, Kenneth; Song, Yiqing; Epidemiology, School of Public Health
    Autism spectrum disorder (ASD) is a rapidly growing neurodevelopmental disorder. Both probiotics and oxytocin were reported to have therapeutic potential; however, the combination therapy has not yet been studied. We conducted a randomized, double-blinded, placebo-controlled, 2-stage pilot trial in 35 individuals with ASD aged 3-20 years (median = 10.30 years). Subjects were randomly assigned to receive daily Lactobacillus plantarum PS128 probiotic (6 × 1010 CFUs) or a placebo for 28 weeks; starting on week 16, both groups received oxytocin. The primary outcomes measure socio-behavioral severity using the Social Responsiveness Scale (SRS) and Aberrant Behavior Checklist (ABC). The secondary outcomes include measures of the Clinical Global Impression (CGI) scale, fecal microbiome, blood serum inflammatory markers, and oxytocin. All outcomes were compared between the two groups at baseline, 16 weeks, and 28 weeks into treatment. We observed improvements in ABC and SRS scores and significant improvements in CGI-improvement between those receiving probiotics and oxytocin combination therapy compared to those receiving placebo (p < 0.05). A significant number of favorable gut microbiome network hubs were also identified after combination therapy (p < 0.05). The favorable social cognition response of the combination regimen is highly correlated with the abundance of the Eubacterium hallii group. Our findings suggest synergic effects between probiotics PS128 and oxytocin in ASD patients, although further investigation is warranted.
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    Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants
    (Wiley, 2025) Hudac, Caitlin M.; Dommer, Kelsey; Mahony, Monique; DesChamps, Trent D.; Cairney, Brianna; Earl, Rachel; Kurtz-Nelson, Evangeline C.; Bradshaw, Jessica; Bernier, Raphael A.; Eichler, Evan E.; Neuhaus, Emily; Webb, Sara Jane; Shic, Frederick; Pediatrics, School of Medicine
    This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain.
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