Results 111 to 120 of about 6,773 (216)

AI technology to support adaptive functioning in neurodevelopmental conditions in everyday environments: a systematic review

npj Digital Medicine
Supports for adaptive functioning in individuals with neurodevelopmental conditions (NDCs) is of upmost importance to long-term outcomes. Artificial intelligence (AI)-assistive technologies has enormous potential to offer efficient, cost-effective, and ...
Nina Perry, Carter Sun, Martha Munro, Kelsie A. Boulton, Adam J. Guastella   +4 more
doaj   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

FE65: a hub for neurodevelopment

Neural Regeneration Research, 2023
Yuqi Zhai, Laura Lok-Haang Ng, Dennis Dik-Long Chau, Kwok-Fai Lau   +3 more
openaire   +3 more sources

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments

Epilepsia, EarlyView.
Abstract Children with developmental and epileptic encephalopathies (DEEs) face cognitive and behavioral challenges that may have a greater impact than seizures on their quality of life (QoL). The need to assess these nonseizure outcomes for evaluating treatments is increasingly recognized.
Cinzia Correale, Nicola Specchio, Jenny Downs, J. Helen Cross, Simona Cappelletti, Andrea Palacio‐Navarro, Sam Geuens, Kette Valente, Andreas Brunklaus, Colin Reilly   +9 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Parental use of structure-based and autonomy support feeding practices with children with avid eating behaviour: an Ecological Momentary Assessment study

International Journal of Behavioral Nutrition and Physical Activity
Background Avid eating is an eating profile which confers greater risk for childhood obesity and can be challenging for parents to manage. Using Ecological Momentary Assessment (EMA), we have previously shown that parental mood, feeding goals, and eating
Katie L. Edwards, Abigail Pickard, Claire Farrow, Emma Haycraft, Moritz Herle, Clare Llewellyn, Helen Croker, Alice Kininmonth, Jacqueline Blissett   +8 more
doaj   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Introducing the D‐DAND scale: Development of a comprehensive caregiver‐administered tool for Dravet syndrome comorbidities

Epilepsia, EarlyView.
Graphical overview of the Dravet Disease–Associated Neuropsychiatric Disorders (D‐DAND) scale. The D‐DAND scale provides a caregiver‐based, comprehensive assessment of developmental and behavioral comorbidities in Dravet syndrome across six domains: motor abilities, language and social interaction, autonomies, academic skills, emotional/behavioral ...
Bernardo Dalla Bernardina, Francesca Offredi, Alessio Toraldo, Lisa Ouss, Delphine Breuillard, Mathilde Cozzo, Tommaso Lo Barco, Isabella Brambilla, Francesca Darra, Rima Nabbout   +9 more
wiley   +1 more source