Results 31 to 40 of about 244,000 (312)

Innovative approaches to the study of social phenotypes in neurodevelopmental disorders: an introduction to the research topic [PDF]

, 2013
R01 HD033470 - NICHD NIH ...
Plesa Skwerer, Daniela, Tager-Flusberg, Helen   +1 more
core   +2 more sources

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

Journal of Neurodevelopmental Disorders, 2017
Background Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety ...
Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen, Reymundo Lozano, Yanjun Chen, Erika S. Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R. Frank Kooy, Randi J. Hagerman   +12 more
doaj   +1 more source

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex

Journal of Neurodevelopmental Disorders, 2018
Background Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC ...
J. Trickett, M. Heald, C. Oliver, C. Richards   +3 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Phenotypically independent profiles relevant to mental health are genetically correlated

Translational Psychiatry, 2021
Genome-wide association studies (GWAS) and family-based studies have revealed partly overlapping genetic architectures between various psychiatric disorders.
Daniel Roelfs, Dag Alnæs, Oleksandr Frei, Dennis van der Meer, Olav B. Smeland, Ole A. Andreassen, Lars T. Westlye, Tobias Kaufmann   +7 more
doaj   +1 more source

Subjective experience of episodic memory and metacognition: a neurodevelopmental approach. [PDF]

, 2013
Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively.
Eustache, F, Guillery-Girard, B, Pauly-Takacs, K, Souchay, C, Wojcik, DZ   +4 more
core   +2 more sources

A constellation of eye-tracking measures reveals social attention differences in ASD and the broad autism phenotype

Molecular Autism, 2022
Background Social attention differences, expressed through gaze patterns, have been documented in autism spectrum disorder (ASD), with subtle differences also reported among first-degree relatives, suggesting a shared genetic link.
Kritika Nayar, Frederick Shic, Molly Winston, Molly Losh   +3 more
doaj   +1 more source

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Psychiatry, 2022
Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation,
Devon Johnson, Ellery Santos, Kyoungmi Kim, Kyoungmi Kim, Matthew D. Ponzini, Matthew D. Ponzini, Yingratana A. McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman   +12 more
doaj   +1 more source

Enrichment of human embryonic stem cell-derived V3 interneurons using an Nkx2-2 gene-specific reporter

Scientific Reports, 2023
V3 spinal interneurons are a key element of the spinal circuits, which control motor function. However, to date, there are no effective ways of deriving a pure V3 population from human pluripotent stem cells.
Ieva Berzanskyte, Federica Riccio, Carolina Barcellos Machado, Elizabeth J. Bradbury, Ivo Lieberam   +4 more
doaj   +1 more source

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core