Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

DB Budimirovic, E Berry-Kravis, CA Erickson… - Journal of …, 2017 - Springer
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder
with the most active translation of preclinical breakthroughs into clinical trials. This process …

Intelligence and specific cognitive functions in intellectual disability: implications for assessment and classification

MO Bertelli, SA Cooper… - Current Opinion in …, 2018 - journals.lww.com
The current model of intelligence, based on IQ, is of limited utility for intellectual disability,
given the wide range and variability of cognitive functions and adaptive capacities …

[图书][B] Textbook of clinical neuropsychology

JE Morgan, JH Ricker - 2016 - taylorfrancis.com
Containing 50 chapters by some of the most prominent clinical neuropsychologists, the
Textbook of Clinical Neuropsychology sets a new standard in the field in its scope, breadth …

Outcome measures for clinical trials in fragile X syndrome

E Berry-Kravis, D Hessl, L Abbeduto… - … of Developmental & …, 2013 - journals.lww.com
Objective: Progress in basic neuroscience has led to identification of molecular targets for
treatment in fragile X syndrome (FXS) and other neurodevelopmental disorders; however …

The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling

Z Zhang, SG Marro, Y Zhang, KL Arendt… - Science translational …, 2018 - science.org
Fragile X syndrome (FXS) is an X chromosome–linked disease leading to severe intellectual
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …

The 7q11. 23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development

ATN Tebbenkamp, L Varela, J Choi, MI Paredes… - Cell, 2018 - cell.com
Despite the known causality of copy-number variations (CNVs) to human
neurodevelopmental disorders, the mechanisms behind each gene's contribution to the …

Urinary incontinence in children with special needs

A Von Gontard - Nature Reviews Urology, 2013 - nature.com
Nocturnal enuresis, daytime urinary incontinence, lower urinary tract symptoms and faecal
incontinence are more common in children with special needs than in typically developing …

Estimating individual contribution from group-based structural correlation networks

M Saggar, SMH Hosseini, JL Bruno, EM Quintin… - Neuroimage, 2015 - Elsevier
Coordinated variations in brain morphology (eg, cortical thickness) across individuals have
been widely used to infer large-scale population brain networks. These structural correlation …

An observational study of social interaction skills and behaviors in Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes

K Ellis, C Oliver, C Stefanidou, I Apperly… - Journal of autism and …, 2020 - Springer
We directly assessed the broader aspects of sociability (social enjoyment, social motivation,
social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS) …

Social brain development in Williams syndrome: The current status and directions for future research

BW Haas, AL Reiss - Frontiers in psychology, 2012 - frontiersin.org
Williams syndrome (WS) is a neurodevelopmental condition that occurs as a result of a
contiguous deletion of∼ 26–28 genes on chromosome 7q11. 23. WS is often associated …