Results 101 to 110 of about 2,916,958 (331)

Applications for mobile devices focused on support for autism spectrum disorder population and / or people in their immediate environment in their daily lives: a systematic and practical review from a Spanish - speaking perspective [PDF]

arXiv, 2018
The present study has made a review of scientific publications on applications focused on autism, most of them developed for communication, social behavior and learning, which coincides with what is observed in a digital market that practically lacks scientific validation.
arxiv  

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders

Scientific Reports
This study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder ...
Gianmarco Ingrosso, Veronica Nisticò, Francesco Lombardi, Benedetta Morlacchi, Anna Chiara Cigognini, Margherita Oresti, Raffaella Faggioli, Anna Mottaran, Carolina Alberta Redaelli, Martina Tramontano, Laura Ranzini, Simona Anselmetti, Sara Bertelli, Orsola Gambini, Benedetta Demartini   +14 more
doaj   +1 more source

Association between heavy metals exposure (cadmium, lead, arsenic, mercury) and child autistic disorder: a systematic review and meta-analysis. [PDF]

Front Pediatr, 2023
Ding M, Shi S, Qie S, Li J, Xi X.
europepmc   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Effectiveness of Applied Behavior Analysis (ABA) with regard to tooth brushing in autistic children

Dental Journal, 2019
Background: Children demonstrating autistic spectrum disorders tend to be uncooperative when receiving dental treatment. Actions as simple as brushing the teeth with a prophylactic brush can constitute complex processes for children with such conditions.
Felicia Melati, Ratna Indriyanti, Arlette Suzy Setiawan   +2 more
doaj   +1 more source

Dental Trauma in Children with Autistic Disorder: A Retrospective Study. [PDF]

Biomed Res Int, 2021
Marra PM, Parascandolo S, Fiorillo L, Cicciù M, Cervino G, D'Amico C, De Stefano R, Salerno P, Esposito U, Itro A.   +9 more
europepmc   +1 more source

Real-time face swapping as a tool for understanding infant self-recognition [PDF]

International Conference on Epigenetic Robotics, Glumslov : Sweden (2010), 2011
To study the preference of infants for contingency of movements and familiarity of faces during self-recognition task, we built, as an accurate and instantaneous imitator, a real-time face- swapper for videos. We present a non-constraint face-swapper based on 3D visual tracking that achieves real-time performance through parallel computing.
arxiv  

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source