Results 81 to 90 of about 126,210 (239)

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  

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Instruments for augmentative and alternative communication for children with autism spectrum disorder: a systematic review

Clinics, 2018
New technologies designed to improve the communication of autistic children can also help to promote interaction processes and cognitive and social development. The aim of this study was to analyze the instruments used to improve the communication skills
Jennifer Yohanna Ferreira de Lima Antão, Acary Souza Bulle Oliveira, Renata Thaís de Almeida Barbosa, Tânia Brusque Crocetta, Regiani Guarnieri, Claudia Arab, Thaís Massetti, Thaiany Pedrozo Campos Antunes, Alan Patrício da Silva, ĺtalla Maria Pinheiro Bezerra, Carlos Bandeira de Mello Monteiro, Luiz Carlos de Abreu   +11 more
doaj   +1 more source

Automatic Voice Classification Of Autistic Subjects [PDF]

Autism Spectrum Disorders (ASD) describe a heterogeneous set of conditions classified as neurodevelopmental disorders. Although the mechanisms underlying ASD are not yet fully understood, more recent literature focused on multiple genetics and/or environmental risk factors.
arxiv   +1 more source

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

The distribution of autistic traits across the autism spectrum: evidence for discontinuous dimensional subpopulations underlying the autism continuum

Molecular Autism, 2019
Background A considerable amount of research has discussed whether autism and psychiatric/neurodevelopmental conditions in general are best described categorically or dimensionally. In recent years, finite mixture models have been increasingly applied to
Ahmad Abu-Akel, Carrie Allison, Simon Baron-Cohen, Dietmar Heinke   +3 more
doaj   +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

Оverlap syndrome of celiac disease with atypical autism in a child: case report

Zdorovʹe Rebenka, 2018
The article presents literary data and case report of the overlap syndrome of celiac disease with atypical autism in a child. Issues of etiopathogenetic association of gluten-related diseases and autistic spectrum disorders are considered.
N.Yu. Zavhorodnia, O.Yu. Lukyanenko, N.O. Zhigir, Yu.A. Gajdar   +3 more
doaj   +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  

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