Results 91 to 100 of about 276,867 (293)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Measuring the Plasticity of Social Approach: A Randomized Controlled Trial of the Effects of the PEERS Intervention on EEG Asymmetry in Adolescents with Autism Spectrum Disorders [PDF]

, 2015
This study examined whether the Program for the Education and Enrichment of Relational Skills (PEERS: Social skills for teenagers with developmental and autism spectrum disorders: The PEERS treatment manual, Routledge, New York, 2010a) affected neural ...
Brockman, Scott, Carson, Audrey M., Dolan, Bridget, Karst, Jeffrey S., McKindles, Ryan J., Remmel, Rheanna, Schohl, Kirsten A., Stevens, Sheryl Jayne, Van Hecke, Amy V.   +8 more
core   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Neonatal risk factors associated with autism spectrum disorders: an umbrella review [PDF]

Clinical and Experimental Pediatrics
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe social communication deficits and stereotypical repetitive behaviors. Purpose This umbrella review assessed neonatal risk factors associated with ASD using
Amir Mohammad Salehi, Erfan Ayubi, Salman Khazaei, Ensiyeh Jenabi, Saeid Bashirian, Zohreh Salimi   +5 more
doaj   +1 more source

Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]

, 2009
Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S, Koch, M, Rao, Mr AN, Shobha, G, Suresh Kumar, V   +4 more
core  

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Association between polycystic ovary syndrome and risk of attention-deficit/hyperactivity disorder in offspring: a meta-analysis [PDF]

Clinical and Experimental Pediatrics, 2022
Ensiyeh Jenabi
doaj   +1 more source

Michelle Grenier, Associate Professor of Kinesiology, travels to Scotland [PDF]

, 2013
Professor Grenier travelled to Scotland to continue her research on physical education teacher practices for students with autism spectrum disorders in the Scottish ...
Grenier, Michelle
core   +1 more source

Wnt/β-catenin signaling stimulates the expression and synaptic clustering of the autism-associated Neuroligin 3 gene [PDF]

, 2018
Indexación: Scopus.Synaptic abnormalities have been described in individuals with autism spectrum disorders (ASD). The cell-adhesion molecule Neuroligin-3 (Nlgn3) has an essential role in the function and maturation of synapses and NLGN3 ASD-associated ...
Andrade, V.M., Avila, M.E., Caracci, M.O., De Ferrari, G.V., Medina, M.A., Opazo, C., Reyes, A.E., Ugarte, G.D., Vargas, M.F., Verdugo, D.A.   +9 more
core   +1 more source