Results 111 to 120 of about 385,791 (336)

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

Language Regression in Childhood Autism

Pediatric Neurology Briefs, 2001
The clinical characteristics of 177 children (82% male and 18% female) with language regression were identified and studied prospectively at four medical centers: Montefiore and Albert Einstein, New York, NY; St Louis Children’s, MO; Miami Children’s, FL;
J Gordon Millichap
doaj   +1 more source

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  

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

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

Oral Health Status of Children with Autistic Spectrum Disorder Compared with Non-authentic Peers

Iranian Journal of Public Health, 2017
Oral Health Status of Children with Autistic Spectrum ...
Işıl Özgül KALYONCU, Ilknur TANBOGA
doaj  

Pervasive Refusal Syndrome in Autistic Spectrum Disorder

Case Reports in Psychiatry, 2018
Pervasive Refusal Syndrome (PRS) is a rare child psychiatric condition. We describe a case of PRS in a 9-year-old boy with a diagnosis of Autism Spectrum Disorder (ASD) presenting with severe weight loss due to extreme restriction of food and fluids ...
Emily Claire Bond, Rosalind Yvonne Kirton Oliphant   +1 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  

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

Bibliometric analysis of trends in dental management of the children with Autism Spectrum Disorder (ASD)

Discover Mental Health
This study aimed to present a complete overview of the trends, difficulties, and improvements in dental treatment for children diagnosed with autism spectrum disorder through rigorous bibliometric analysis.
Kanwalpreet Kaur, Ravinder S. Saini, Syed Altafuddin Quadri, Gustavo Vicentis Oliveira Fernandes, Anna Avetisyan, Seyed Ali Mosaddad, Artak Heboyan   +6 more
doaj   +1 more source