Results 101 to 110 of about 279,548 (296)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
HeliyonThere is limited data available on the impact of sleep problems in children with ASD on parents' sleep quality. Due to the lack of research in Iran on factors affecting the sleep quality of mothers of children with ASD, this study was designed to explore
Ensiyeh Jenabi +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Application Of Teach-Talk-Tool Module Mandarin Version On Teachers’ Language Interactive Strategies And The Language Outputs Of Students With ASD [PDF]
, 2017 Kajian ini bertujuan meninjau keberkesanan latihan dalaman perkhidmatan dengan menggunakan modul TEACH-TALK-TOOL (TTT) atas strategi interaksi bahasa guru dan penghasilan bahasa murid Autism Spectrum Disorders (ASD) This study was conducted to explore
Tan, Phiak Kah
core
Wnt/β-catenin signaling stimulates the expression and synaptic clustering of the autism-associated Neuroligin 3 gene [PDF]
, 2018 Indexación: Scopus.Synaptic abnormalities have been described in individuals with autism spectrum disorders (ASD). The cell-adhesion molecule Neuroligin-3 (Nlgn3) has an essential role in the function and maturation of synapses and NLGN3 ASD-associated ...
Andrade, V.M. +9 more
core +1 more source
Autism spectrum disorder (ASD) is characterized by deficits in social communication and social interaction together with restrictive, repetitive, and inflexible patterns of behavior including routines, rituals, and overfocused interests, sensory sensitivities, and motor stereotypies (e.g., hand flapping when excited or anxious).
Skuse, David +3 more
openaire +2 more sources
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
New Hampshire commission on autism spectrum disorders, findings and recommendations [PDF]
, 2008 Report of the New Hampshire Commission on Autism Spectrum Disorders\u27 findings, as well as goals and recommendations to improve detection and treatment of autism ...
New Hampshire Commission on Autism Spectrum Disorders
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn +11 more
wiley +1 more source