Results 31 to 40 of about 241,752 (284)

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

open access: yesJournal 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   +12 more
doaj   +1 more source

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

open access: yes, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M   +3 more
core   +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

open access: yesJournal 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   +3 more
doaj   +1 more source

Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders

open access: yes, 2018
The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale.
Hines, Rochelle M.   +2 more
core   +2 more sources

Epigenetic Effects of Polybrominated Diphenyl Ethers on Human Health. [PDF]

open access: yes, 2019
Disruption of epigenetic regulation by environmental toxins is an emerging area of focus for understanding the latter's impact on human health. Polybrominated diphenyl ethers (PBDEs), one such group of toxins, are an environmentally pervasive class of ...
Poston, Robert G, Saha, Ramendra N
core   +1 more source

Phenotypically independent profiles relevant to mental health are genetically correlated

open access: yesTranslational Psychiatry, 2021
Genome-wide association studies (GWAS) and family-based studies have revealed partly overlapping genetic architectures between various psychiatric disorders.
Daniel Roelfs   +7 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]

open access: yes, 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   +10 more
core  

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

open access: yesMolecular 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   +3 more
doaj   +1 more source

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