Results 231 to 240 of about 3,152,180 (364)

The Digital Diagnostic Odyssey: Artificial Intelligence and Social Media Crowdsourcing Amid Pediatric Neurology Access Gaps

Annals of the Child Neurology Society, EarlyView.
Audrey M. Smith, Rachel Vassar
wiley   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Workplace Accommodations and Employment Outcomes Among Employees With Autism: A Systematic Review. [PDF]

Cureus
Heinze C.
europepmc   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Could She Be Autistic? Exploring Gender Differences in Camouflaging and Pragmatics in Autism and Borderline Personality Disorder. [PDF]

Clin Psychol Psychother
Gracia RS, Resa PL, Timerman AIME, Gómez SMG.   +3 more
europepmc   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

Epilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi, Maren Kimura, Bamby Joseph, Alina Zhao, Diane L. Lorenzetti, Dang K. Nguyen, Mark Keezer, Colin B. Josephson, Nathalie Jetté   +8 more
wiley   +1 more source

An evaluation of the need and early intervention support for children (aged 2-4 years) with an autistic spectrum disorder in Northern Ireland [PDF]

, 2007
Cassidy, Arlene, Kelly, Greg, McConkey, Roy   +2 more
core  

Eating Disorders and Autistic Traits Camouflaging: Insights from the EAT Study. [PDF]

Nutrients
Cesco M, Garzitto M, Croccia V, Bier F, Saetti L, Balestrieri M, Colizzi M.   +6 more
europepmc   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

The Effects of Handwriting Augmentative and Alternative Communication(AAC) Intervention with Touch Screen Based Device on Spontaneous Communication and Accuracy of a Nonverbal Student with Autistic Spectrum Disorders

, 2011
이희광, 박주연
openalex   +1 more source