Results 81 to 90 of about 208,814 (273)
Advanced Intelligent Systems, EarlyView.A schema‐first alignment framework builds compact, executable domain‐specific language models under data scarcity. Large‐scale synthetic question‐answer generation instills domain knowledge, and a code‐centric IR‐to‐DPO pipeline aligns generation with tool‐executable syntax.
Di Wang +4 more
wiley +1 more source
The Pan African Medical Journal, 2016 INTRODUCTION: autism spectrum disorders (ASD) is a neurodevelopmental disorder that has been rarely diagnosed in Sub-Saharan Africa. Although a proportion of children do present features of ASD in the Democratic Republic of Congo (DRC), little is known ...
Davin Mbeya Mpaka +10 more
doaj +1 more source
OASIcs, Volume 68, ASD'19, Complete Volume
, 2019 OASIcs, Volume 68, ASD'19, Complete ...
Ernst, Rolf +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 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 +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 ConferencesAutism 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
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 +6 more
doaj +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source