Results 91 to 100 of about 39,746 (275)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

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, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Level of autistic traits in neurotypical adults predicts kinematic idiosyncrasies in their biological movements

Frontiers in Integrative Neuroscience
IntroductionOver the last decade of research, a notable connection between autism spectrum disorder (ASD) and unique motor system characteristics has been identified, which may influence social communication through distinct movement patterns.
Gregory F. Lewis, Elizabeth B. daSilva, Mohammad Aghajani, Surabhi Date, Mark Jaime   +4 more
doaj   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Sexuality and the Autism Spectrum: Implications for Individuals with the Broad Autism Phenotype

, 2017
Many people who are not diagnosed with Autism Spectrum Disorder (ASD) nevertheless have some symptoms of the disorder. These people are classified as having the Broad Autism Phenotype (BAP) and have some of the same difficulties as people with ASD.
Qualls, Lydia, Hartmann, Kathrin, Paulson, James F.   +2 more
openaire   +3 more sources

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]

, 2014
BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M, Geschwind, Daniel H, Lowe, Jennifer K, Luo, Rui, Werling, Donna M, Werling, Donna M   +5 more
core   +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

Associations Between Social Functioning and Indicators of University Student Engagement

European Journal of Investigation in Health, Psychology and Education
Less socially adaptive behaviors have often been underestimated in university students, with limited research addressing their impact on academic functioning. This study aimed to identify distinct profiles of social functioning difficulties in university
Marco Turi, Rocco Servidio, Giovanna Esposito, Flaviana Tenuta, Lorena Montesano, Andrea De Giacomo, Antonella Valenti, Maria Francesca Freda, Linda S. Pagani, Francesco Craig   +9 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Prenatal broad-spectrum cannabidiol administration prevents an autism-like phenotype in male offspring from a maternal stress/terbutaline rat model

Brain, Behavior, & Immunity - Health
Recently, the diagnosis of autism spectrum disorder (ASD) has increased from 1 in 150 to every 1 in 36 children in the United States, warranting a need for novel prevention and therapeutic strategies.
Jeremy A. Taylor, Zachariah Z. Smith, Michael E. Anderson, Evan M. Holbrook, Isabella S. Elkinbard, Jon D. Reuter, Christopher A. Lowry, Daniel S. Barth   +7 more
doaj   +1 more source

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

BMC Medical Genetics, 2017
Background Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome.
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen   +9 more
doaj   +1 more source