Results 81 to 90 of about 347,816 (272)

A Study of the Wellbeing of Siblings of Children with Autism Spectrum Disorders: Sibling Efficacy, Positive and Negative Affect, and Coping Strategies [PDF]

, 2018
Autism spectrum disorders (ASD) include pervasive developmental disorders characterised by communication deficits, difficulty with social understanding, and repetitive behaviors.
Habelrih, Emily Anne, Hicks, Richard E., Vanstone, Daisy   +2 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Light‐Induced Dispersion of Pd Single Atoms Provides Steady‐State‐Stabilized Activity for Photocatalytic H2 Generation

Angewandte Chemie, EarlyView.
High photon flux causes (re)distionpersion of atomic Pd species on TiO2 in photocatalytic experiments, whereas Pt SAs undergo continuous agglormation. This allows light‐driven stabilization of active Pd centers for sustained H2 evolution. ABSTRACT In recent years, the use of single atoms (SAs) has become increasingly significant in photocatalysis ...
Xin Zhou, Nikita Denisov, Ana S. Dobrota, Natalia V. Skorodumova, Igor A. Pašti, Hyesung Kim, Patrik Schmuki   +6 more
wiley   +2 more sources

Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Эпилепсия и пароксизмальные состояния, 2020
Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +1 more source

Friendships for High School Students: With Autism Spectrum Disorder and Without [PDF]

, 2015
People with Autism Spectrum Disorder (ASD) experience deficits in social communication, having difficulty with carrying on conversations, abiding by social norms, and feeling empathy towards others.
Young, Alanna
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Oral hygiene education of special needs children. Part 1: children with autism spectrum disorder

Biotechnology & Biotechnological Equipment, 2019
The purpose of this study was to implement an educational programme for oral hygiene of children with autism. It involved 30 children with autism aged 6–11 years.
Lilia Doichinova, Natalia Gateva, Krasimir Hristov   +2 more
doaj   +1 more source

Leveraging Machine Learning for Early Autism Diagnosis: A Comprehensive Review of Algorithms, Techniques, and Future Directions [PDF]

EPJ Web of Conferences
Autism disorder is a multifactorial neurological disorder which is difficult to diagnose because of the pervasive symptoms and small initial signs. Machine learning (ML) in this review changes the system of early SD diagnosis.
Kandalkar Neha A., Jogekar Ravindra N.
doaj   +1 more source

Prenatal Serum Concentrations of Brominated Flame Retardants and Autism Spectrum Disorder and Intellectual Disability in the Early Markers of Autism Study: A Population-Based Case-Control Study in California. [PDF]

, 2017
BackgroundPrior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders.ObjectivesOur aim was to determine whether prenatal exposure to brominated flame retardants ...
Croen, Lisa A, Delorenze, Gerald N, Kharrazi, Martin, Lyall, Kristen, Traglia, Michela, Weiss, Lauren A, Windham, Gayle C   +6 more
core   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source