Results 161 to 170 of about 172,014 (250)

Health experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. [PDF]

BMC Med
Crompton CJ, Efthimiou TN, Dockrell DM, Berg KM.   +3 more
europepmc   +1 more source

Report on an investigation into complaint no 10 010 281 against Buckinghamshire County Council, 28 November 2012 [PDF]

, 2012
Seex, Anne
core  

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Racial disparities in depression and mental health service use among black and white autistic adults. [PDF]

Sci Rep
Williams EG, Sivathasan S, Anthony N, Eack SM, Mazefsky CA.   +4 more
europepmc   +1 more source

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source

Cognition in adults with bottom‐of‐sulcus dysplasia and the consequences of focal resection

Epilepsia, EarlyView.
Abstract Objective To determine whether there are cognitive consequences of bottom‐of‐sulcus dysplasia (BOSD) when assessed as adults and whether focal resection of these lesions leads to change in cognition. Methods We studied 42 adults, of whom 39 underwent focal resection targeting the lesion.
Carmen J. Zheng, David Weintrob, Marie O'Shea, Graeme D. Jackson, Chris Tailby   +4 more
wiley   +1 more source

Supporting Neurodiverse Junior Doctors: Challenges, Strategies, and Policy Implications for Inclusive Medical Training. [PDF]

Cureus
Barel M, Javaid A.
europepmc   +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  

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer, M. Scott Perry, Joseph Sullivan, Susana Boronat, James Wheless, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer M. Zuberi, Rebecca Shaffer, Mary Wojnaroski, Madison M. Berl, Sarah Christensen, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +26 more
wiley   +1 more source