Results 91 to 100 of about 982,051 (310)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

The thermodynamics of cognition: A mathematical treatment

Computational and Structural Biotechnology Journal, 2021
There is a general expectation that the laws of classical physics must apply to biology, particularly the neural system. The evoked cycle represents the brain's energy/information exchange with the physical environment through stimulus.
Eva Deli, James Peters, Zoltán Kisvárday   +2 more
doaj  

Introducing ACASS: An Annotated Character Animation Stimulus Set for Controlled (e)Motion Perception Studies

Frontiers in Robotics and AI, 2019
Others' movements inform us about their current activities as well as their intentions and emotions. Research on the distinct mechanisms underlying action recognition and emotion inferences has been limited due to a lack of suitable comparative stimulus ...
Sebastian Lammers, Sebastian Lammers, Gary Bente, Ralf Tepest, Mathis Jording, Daniel Roth, Kai Vogeley, Kai Vogeley   +7 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Adapting the Research Development and Innovation (RD & I) Value Chain in Psychology to Educational Psychology Area

Frontiers in Psychology, 2018
Educational Psychology, as an area of Psychology that specializes in formative processes, faces several important challenges in the information and knowledge society of this twenty first century.
Jesús de la Fuente, Jesús de la Fuente, Douglas Kauffman, Unai Díaz-Orueta, Yashu Kauffman   +4 more
doaj   +1 more source

Genetics of Response to ECT, TMS, Ketamine and Esketamine

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Treatment‐resistant mood disorders are often managed with intensive interventions that include electroconvulsive therapy (ECT), transcranial magnetic stimulation (TMS), ketamine, and esketamine, but the role of genetics in clinical response to those interventions is yet to be clearly determined.
Clio E. Franklin, Murat Altinay, Kala Bailey, Mahendra T. Bhati, Brent R. Carr, Susan K. Conroy, Khurshid Khurshid, William M. McDonald, Brian J. Mickey, James W. Murrough, Sean M. Nestor, Thomas Nickl‐Jockschat, Irving M. Reti, Gerard Sanacora, Nicholas T. Trapp, Biju Viswanath, Jesse H. Wright, Peter P. Zandi, James B. Potash   +18 more
wiley   +1 more source

Cloud Based Virtual Reality Exposure Therapy Service for Public Speaking Anxiety

Information, 2019
Public speaking anxiety is commonly treated using cognitive behavioral therapy. During the therapy session, the patient is either asked to vividly imagine and describe the feared stimulus or is confronted with it in the real world. Sometimes, however, it
Justas Šalkevičius, Audronė Miškinytė, Lukas Navickas   +2 more
doaj   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Considering the animating ethos of designing digital first unemployment services: On the motivation of others

Australian Journal of Social Issues, EarlyView.
Abstract This paper explores the animating ethos of digital unemployment services. Unlike human‐to‐human services, where the intention of policy is normally mediated by professionals, digital services are fully designed in the policy imagination. As a result, it is a pressing issue to understand the ethos that animates their development.
Ray Griffin, Antoinette Jordan, Aisling Tuite   +2 more
wiley   +1 more source