Results 81 to 90 of about 1,878,157 (376)

Language-Assisted Deep Learning for Autistic Behaviors Recognition [PDF]

arXiv, 2022
Correctly recognizing the behaviors of children with Autism Spectrum Disorder (ASD) is of vital importance for the diagnosis of Autism and timely early intervention. However, the observation and recording during the treatment from the parents of autistic children may not be accurate and objective.
arxiv  

Prognosticating Autism Spectrum Disorder Using Artificial Neural Network: Levenberg-Marquardt Algorithm [PDF]

Archives of Clinical and Biomedical Research 2018, 2(6):188-197, 2018
Autism spectrum condition (ASC) or autism spectrum disorder (ASD) is primarily identified with the help of behavioral indications encompassing social, sensory and motor characteristics. Although categorized, recurring motor actions are measured during diagnosis, quantifiable measures that ascertain kinematic physiognomies in the movement configurations
arxiv   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Autism spectrum disorders and autistic traits share genetics and biology

Molecular Psychiatry, 2017
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants.
J. Bralten, K. V. Hulzen, M. B. Martens, T. Galesloot, A. Vasquez, L. Kiemeney, J. Buitelaar, J. Muntjewerff, B. Franke, G. Poelmans   +9 more
semanticscholar   +1 more source

Reduced interhemispheric functional connectivity of children with autism: evidence from functional near infrared spectroscopy studies [PDF]

arXiv, 2013
Autism spectrum disorder is a neuro-developmental disorder characterized by abnormalities of neural synchronization. In this study, functional near infrared spectroscopy (fNIRS) is used to study the difference in functional connectivity in left and right inferior frontal cortices (IFC) and temporal cortices (TC) between autistic and typically ...
arxiv  

HSVRS: A Virtual Reality System of the Hide-and-Seek Game to Enhance Gaze Fixation Ability for Autistic Children [PDF]

arXiv, 2023
Numerous children diagnosed with Autism Spectrum Disorder (ASD) exhibit abnormal eye gaze pattern in communication and social interaction. Due to the high cost of ASD interventions and a shortage of professional therapists, researchers have explored the use of virtual reality (VR) systems as a supplementary intervention for autistic children.
arxiv  

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

EEG changes associated with autistic spectrum disorders

, 2015
Autism Spectrum Disorders (ASD) are an etiologically and clinically heterogeneous group of neurodevelopmental disorders. The pathophysiology of ASD remains largely unknown. One essential and well-documented observation is high comorbidity between ASD and
N. Boutros, R. Lajiness-O'Neill, Andrew Zillgitt, A. Richard, S. Bowyer   +4 more
semanticscholar   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source