keyword
https://read.qxmd.com/read/38626184/transparent-deep-learning-to-identify-autism-spectrum-disorders-asd-in-ehr-using-clinical-notes
#1
JOURNAL ARTICLE
Gondy Leroy, Jennifer G Andrews, Madison KeAlohi-Preece, Ajay Jaswani, Hyunju Song, Maureen Kelly Galindo, Sydney A Rice
OBJECTIVE: Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained to assign a single label using a black-box approach. We created an ML approach using deep learning that generates outcomes that are transparent and in line with clinical, diagnostic rules. We demonstrate our approach for autism spectrum disorders (ASD), a neurodevelopmental condition with increasing prevalence. METHODS: We use unstructured data from the Centers for Disease Control and Prevention (CDC) surveillance records labeled by a CDC-trained clinician with ASD A1-3 and B1-4 criterion labels per sentence and with ASD cases labels per record using Diagnostic and Statistical Manual of Mental Disorders (DSM5) rules...
April 16, 2024: Journal of the American Medical Informatics Association: JAMIA
https://read.qxmd.com/read/38625762/computational-interpersonal-communication-model-for-screening-autistic-toddlers-a-case-study-of-response-to-name
#2
JOURNAL ARTICLE
Wei Nie, Bingrui Zhou, Zhiyong Wang, Bowen Chen, Xinming Wang, Chunchun Hu, Huiping Li, Qiong Xu, Xiu Xu, Honghai Liu
Interpersonal communication facilitates symptom measures of autistic sociability to enhance clinical decision-making in identifying children with autism spectrum disorder (ASD). Traditional methods are carried out by clinical practitioners with assessment scales, which are subjective to quantify. Recent studies employ engineering technologies to analyze children's behaviors with quantitative indicators, but these methods only generate specific rule-driven indicators that are not adaptable to diverse interaction scenarios...
April 16, 2024: IEEE Journal of Biomedical and Health Informatics
https://read.qxmd.com/read/38610204/economic-evaluation-of-the-thai-diagnostic-autism-scale-for-autism-spectrum-disorder-diagnosis-in-children-aged-1-5-years-old
#3
JOURNAL ARTICLE
Duangkamol Tangviriyapaiboon, Unchalee Permsuwan, Chosita Pavasuthipaisit, Athithan Sriminipun, Piyameth Dilokthornsakul
The Thai Diagnostic Autism Scale (TDAS) was developed for autism spectrum disorder (ASD) diagnosis in Thai children aged 1-5 years. Previous studies have indicated its good performance; however, additional health resources and healthcare providers are necessary for evaluation. Therefore, this study aimed to assess the cost-effectiveness of TDAS compared to clinical diagnosis (ClinDx) for ASD diagnosis in Thai children aged 1-5 years from a societal perspective. The analysis employed a hybrid model consisting of a decision tree model for a diagnostic phase with a state transition model for a follow-up phase...
April 3, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38607474/factors-associated-with-confirmed-and-unconfirmed-autism-spectrum-disorder-diagnosis-in-children-volunteering-for-research
#4
JOURNAL ARTICLE
Susanne W Duvall, Rachel K Greene, Randi Phelps, Tara M Rutter, Sheila Markwardt, Julia Grieser Painter, Michaela Cordova, Beth Calame, Olivia Doyle, Joel T Nigg, Eric Fombonne, Damien Fair
PURPOSE: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. METHODS: We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion...
April 12, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38596630/language-competency-in-autism-a-scientometric-review
#5
REVIEW
Muhammad Alasmari, Ahmed Alduais, Fawaz Qasem
The study of atypical language acquisition in children with, autism spectrum disorder (ASD) is crucial for both practical and theoretical reasons. Understanding the course of language development in ASD can inform potential interventions and treatments while shedding light on the necessary conditions for language development in typically developing children. This scientometric review aims to provide a comprehensive overview of the research landscape in this field, identifying trends, patterns, and knowledge gaps...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38595631/gluten-free-casein-free-diet-for-children-with-autism-spectrum-disorder-a-case-controlled-study
#6
JOURNAL ARTICLE
Khaled Saad, Islam Shabaan, Abd-El-Monem M Hassan, Mohamed Ezzat, Mohamed A Abouzed, Yasser Hamed, Mohamed Fahmy M Ibrahim, Eman F Gad
BACKGROUND AND OBJECTIVES: Numerous therapeutic and dietary interventions have been examined in the last thirty years for pediatric patients diagnosed with autism spectrum disorder (ASD). Our interventional study aimed to assess the effectiveness of the gluten-free, casein-free (GFCF) diet in a cohort of Egyptian children with ASD. MATERIALS AND METHODS: The present clinical trial was conducted as a prospective 12-month, open-label, case-controlled interventional study...
February 2024: Journal of Pharmacy & Bioallied Sciences
https://read.qxmd.com/read/38594551/exploring-key-genes-and-pathways-associated-with-sex-differences-in-autism-spectrum-disorder-integrated-bioinformatic-analysis
#7
JOURNAL ARTICLE
Himani Nautiyal, Akanksha Jaiswar, Prabhash Kumar Jha, Shubham Dwivedi
Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder marked by functional abnormalities in brain that causes social and linguistic difficulties. The incidence of ASD is more prevalent in males compared to females, but the underlying mechanism, as well as molecular indications for identifying sex-specific differences in ASD symptoms remain unknown. Thus, impacting the development of personalized strategy towards pharmacotherapy of ASD. The current study employs an integrated bioinformatic approach to investigate the genes and pathways uniquely associated with sex specific differences in autistic individuals...
April 9, 2024: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://read.qxmd.com/read/38593464/when-the-education-system-and-autism-collide-an-australian-qualitative-study-exploring-school-exclusion-and-the-impact-on-parent-mental-health
#8
JOURNAL ARTICLE
Michelle Cleary, Sancia West, Loyola McLean, Colleen Johnston-Devin, Rachel Kornhaber, Catherine Hungerford
Autistic students experience elevated rates of school exclusion, whether this be through expulsion, suspension, informal suspension, refusal of enrolment, or school refusal. This exclusion can come about from a range of factors, including sensory or cognitive overload, a lack of training in neurodiversity for teachers, an absent sense of safety by the student at school, or poor attitudes towards the inclusion of autistic students in schools. The impacts of this exclusion on parents can be logistical, financial, and psychological, with a range of mental health outcomes...
April 9, 2024: Issues in Mental Health Nursing
https://read.qxmd.com/read/38592298/unraveling-the-puzzle-health-benefits-of-probiotics-a-comprehensive-review
#9
REVIEW
Sabiha Gul, Emanuele Durante-Mangoni
A growing number of probiotic-containing products are on the market, and their use is increasing. Probiotics are thought to support the health of the gut microbiota, which in turn might prevent or delay the onset of gastrointestinal tract disorders. Obesity, type 2 diabetes, autism, osteoporosis, and some immunological illnesses are among the conditions that have been shown to possibly benefit from probiotics. In addition to their ability to favorably affect diseases, probiotics represent a defense system enhancing intestinal, nutritional, and oral health...
March 1, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38591194/prediction-of-lncrna-protein-interactions-using-auto-encoder-se-resnet-models-and-transfer-learning
#10
JOURNAL ARTICLE
Jiang Huiwen, Song Kai
BACKGROUND: Long non-coding RNA (lncRNA) plays a crucial role in various biolog-ical processes, and mutations or imbalances of lncRNAs can lead to several diseases, including cancer, Prader-Willi syndrome, autism, Alzheimer's disease, cartilage-hair hypoplasia, and hear-ing loss. Understanding lncRNA-protein interactions (LPIs) is vital for elucidating basic cellular processes, human diseases, viral replication, transcription, and plant pathogen resistance. Despite the development of several LPI calculation methods, predicting LPI remains challenging, with the selection of variables and deep learning structure being the focus of LPI research...
April 8, 2024: MicroRNA
https://read.qxmd.com/read/38589916/association-of-congenital-heart-disease-and-neurodevelopmental-disorders-an-observational-and-mendelian-randomization-study
#11
JOURNAL ARTICLE
Zhi-Yuan Liu, Qiong-Qiong Wang, Xian-Yong Pang, Xiao-Bi Huang, Gui-Ming Yang, Sheng Zhao
BACKGROUND: This study aims to thoroughly study the connection between congenital heart disease (CHD) and neurodevelopmental disorders (NDDs) through observational and Mendelian randomization (MR) designs. METHODS: This observational study uses data from the National Survey of Children's Health (2020-2021). Multivariable logistic regression and propensity score matching (PSM) were performed to analyze the association. PSM was used to minimize bias for covariates such as age, race, gender, maternal age, birth weight, concussion or brain injury, preterm birth, cerebral palsy, Down syndrome, and other inherited conditions...
April 8, 2024: Italian Journal of Pediatrics
https://read.qxmd.com/read/38586377/what-does-scientometry-tell-us-about-mercury-toxicology-and-its-biological-impairments
#12
JOURNAL ARTICLE
Daiane Claydes Baia-da-Silva, Paulo Fernando Santos Mendes, Diane Cleydes Baia da Silva, Victória Santos Chemelo, Leonardo Oliveira Bittencourt, Pedro Magalhães Padilha, Reinaldo Barreto Oriá, Michael Aschner, Rafael Rodrigues Lima
Mercury is a toxic pollutant that poses risks to both human and environmental health, making it a pressing public health concern. This study aimed to summarize the knowledge on mercury toxicology and the biological impairments caused by exposure to mercury in experimental studies and/or diagnosis in humans. The research was conducted on the main collection of Web of Science, employing as a methodological tool a bibliometric analysis. The selected articles were analyzed, and extracted data such as publication year, journal, author, title, number of citations, corresponding author's country, keywords, and the knowledge mapping was performed about the type of study, chemical form of mercury, exposure period, origin of exposure, tissue/fluid of exposure measurement, mercury concentration, evaluation period (age), mercury effect, model experiments, dose, exposure pathway, and time of exposure...
April 15, 2024: Heliyon
https://read.qxmd.com/read/38583657/associations-of-neighborhood-greenspace-and-active-living-environments-with-autism-spectrum-disorders-a-matched-case-control-study-in-ontario-canada
#13
JOURNAL ARTICLE
Éric Lavigne, Kasim E Abdulaziz, Malia Sq Murphy, Cristina Stanescu, Alysha Lj Dingwall-Harvey, David M Stieb, Mark C Walker, Shi Wu Wen, Hwashin Hyun Shin
BACKGROUND: Increasing evidence links early life residential exposure to natural urban environmental attributes and positive health outcomes in children. However, few studies have focused on their protective effects on the risk of autism spectrum disorder (ASD). The aim of this study was to investigate the associations of neighborhood greenspace, and active living environments during pregnancy with ASD in young children (≤6 years). METHODS: We conducted a population-based matched case-control study of singleton term births in Ontario, Canada for 2012-2016...
April 5, 2024: Environmental Research
https://read.qxmd.com/read/38582333/phenotypic-analysis-of-multielectrode-array-eeg-biomarkers-in-developing-and-adult-male-fmr1-ko-mice
#14
JOURNAL ARTICLE
Carrie R Jonak, Samantha A Assad, Manbir S Sandhu, Terese A Garcia, Jeffrey A Rumschlag, Khaleel A Razak, Devin K Binder
Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety and social and sensory processing deficits. Recent electroencephalographic (EEG) studies in humans with FXS have identified neural oscillation deficits that include increased resting state gamma power, increased amplitude of auditory evoked potentials, and reduced phase locking of sound-evoked gamma oscillations. Similar EEG phenotypes are present in mouse models of FXS, but very little is known about the development of such abnormal responses...
April 4, 2024: Neurobiology of Disease
https://read.qxmd.com/read/38572415/the-genetic-landscape-of-autism-spectrum-disorder-in-the-middle-eastern-population
#15
JOURNAL ARTICLE
Yasser Al-Sarraj, Rowaida Z Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M E Albagha
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk. Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38569980/bpi-gnn-interpretable-brain-network-based-psychiatric-diagnosis-and-subtyping
#16
JOURNAL ARTICLE
Kaizhong Zheng, Shujian Yu, Liangjun Chen, Lujuan Dang, Badong Chen
Converging evidence increasingly suggests that psychiatric disorders, such as major depressive disorder (MDD) and autism spectrum disorder (ASD), are not unitary diseases, but rather heterogeneous syndromes that involve diverse, co-occurring symptoms and divergent responses to treatment. This clinical heterogeneity has hindered the progress of precision diagnosis and treatment effectiveness in psychiatric disorders. In this study, we propose BPI-GNN, a new interpretable graph neural network (GNN) framework for analyzing functional magnetic resonance images (fMRI), by leveraging the famed prototype learning...
April 1, 2024: NeuroImage
https://read.qxmd.com/read/38568404/barriers-to-and-facilitators-for-finding-and-keeping-competitive-employment-a-focus-group-study-on-autistic-adults-with-and-without-paid-employment
#17
JOURNAL ARTICLE
Evelien P M Brouwers, Michel Bergijk, Jaap van Weeghel, Sarah Detaille, Hanneke Kerkhof, Jeroen Dewinter
PURPOSE: The aim of the study was to gain more insight into barriers to and facilitators for finding and keeping competitive employment for autistic adults. Research questions were: (1) What barriers and facilitators do autistic adults report in finding and keeping competitive employment?; and (2) What are differences and similarities between autistic adults with and without paid employment regarding barriers and facilitators for sustainable employment? METHODS: Eight focus groups were conducted (N = 64 autistic adults)...
April 3, 2024: Journal of Occupational Rehabilitation
https://read.qxmd.com/read/38568366/k-12-life-skills-education-independence-and-employment-of-autistic-individuals-giving-voice-to-autistic-adults
#18
JOURNAL ARTICLE
Jenna Christine Zatz, Judith R Harrison
Autistic adults are often challenged to engage in and complete life skill tasks independently and are underrepresented in employment. No prior study has explored the perceptions of autistic individuals regarding K-12 life skills experiences and postsecondary employment. As such, the purposes of this study were to explore the association between components of life skills instruction and employment for 12 autistic individuals, and to elicit the perspectives of and experiences in K-12 education and employment of six autistic adults...
April 3, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38566250/detection-of-autism-spectrum-disorder-related-pathogenic-trio-variants-by-a-novel-structure-based-approach
#19
JOURNAL ARTICLE
Sadhna Rao, Anastasiia Sadybekov, David C DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E Herring
BACKGROUND: Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement of the TRIO-RAC1 pathway in ASD and ID. Furthermore, we identified a pathological de novo missense mutation hotspot in TRIO's GEF1 domain...
April 3, 2024: Molecular Autism
https://read.qxmd.com/read/38562516/improvement-of-symptoms-in-children-with-autism-by-tomatis-training-a-cross-sectional-and-longitudinal-study
#20
JOURNAL ARTICLE
Yujia Fu, Mei Tian, Jiaxi Chen, Wenfeng Chen, Huang Li
INTRODUCTION: Autism spectrum disorder (ASD) is a neurological condition that is marked by deficits in social interaction, difficulty expressing oneself, lack of enthusiasm, and stereotypical conduct. The TOMATIS training method is an effective music therapy for children with ASD for its individually developed programs to improve behavioral deficits. METHODS: The research employed both longitudinal and crosssectional designs. RESULTS: In the cross-sectional study, the experimental group showed significant improvement in symptoms after TOMATIS training compared to the control group of children with ASD...
2024: Frontiers in Behavioral Neuroscience
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