Results 61 to 70 of about 183,947 (263)

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

A pilot evaluation of the Baby Social ABCs caregiver-mediated intervention for 6–15-month-olds with early signs of autism—feasibility, acceptability, and preliminary evidence

Frontiers in Child and Adolescent Psychiatry
BackgroundAutism spectrum disorder (autism) is a neurodevelopmental condition with a high prevalence of approximately 1 in 50 children. Early intervention can support long-term outcomes.
E. Dowds, S. MacWilliam, A. Solish, S. Osten, L. Zwaigenbaum, I. M. Smith, J. A. Brian   +6 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism

Molecular Autism, 2019
Background Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor (OXTR).
Florina Uzefovsky, Richard A. I. Bethlehem, Simone Shamay-Tsoory, Amber Ruigrok, Rosemary Holt, Michael Spencer, Lindsay Chura, Varun Warrier, Bhismadev Chakrabarti, Ed Bullmore, John Suckling, Dorothea Floris, Simon Baron-Cohen   +12 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The coherence of autism

Autism, 2013
There is a growing body of opinion that we should view autism as fractionable into different, largely independent sets of clinical features. The alternative view is that autism is a coherent syndrome in which principal features of the disorder stand in intimate developmental relationship with each other.
openaire   +3 more sources

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Priorities for change for autistic people across Europe

Molecular Autism
Background Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world.
Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Amber Ruigrok, Joyce Man, Tracey Parsons, Kathryn Gibbs, Edward Bullock, Aurélie Baranger, Carrie Allison, Mary Doherty, Anjuli Ghosh, Jerneja Terčon, Katrien Van den Bosch, Simon Baron-Cohen   +13 more
doaj   +1 more source

Community implementation of a brief parent mediated intervention for toddlers with probable or confirmed autism spectrum disorder: feasibility, acceptability, and drivers of success (IE Drmic et al.)

Frontiers in Pediatrics
BackgroundSocial ABCs is a caregiver-mediated Naturalistic Developmental Behavioral Intervention for toddlers with confirmed/suspected Autism Spectrum Disorder (ASD), with evidence in controlled research settings. Information is lacking on implementation
Irene Drmic, Jessica Brian, Jessica Brian, Caroline Roncadin, Chantelle Shaver, Marlene Pase, Natalie Rugajs, Kristina Tofano, Erin Dowds, Lonnie Zwaigenbaum, Isabel M. Smith, Susan E. Bryson   +11 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source