Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

EM Berry-Kravis, L Lindemann, AE Jønch… - Nature reviews Drug …, 2018 - nature.com
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

The GABAA receptor as a therapeutic target for neurodevelopmental disorders

S Braat, RF Kooy - Neuron, 2015 - cell.com
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment

WE Kaufmann, SA Kidd, HF Andrews… - …, 2017 - publications.aap.org
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently
codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about …

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

J Moss, P Howlin - Journal of Intellectual Disability Research, 2009 - Wiley Online Library
Background An emerging literature on behavioural phenotypes has highlighted apparent
associations between autism spectrum disorders (ASDs) or ASD‐related phenomenology …

Self‐injurious behaviour in individuals with autism spectrum disorder and intellectual disability

C Richards, C Oliver, L Nelson… - Journal of Intellectual …, 2012 - Wiley Online Library
Background Autism spectrum disorder (ASD) has been identified as a risk marker for self‐
injurious behaviour. In this study we aimed to describe the prevalence, topography and …

The fragile X syndrome–autism comorbidity: what do we really know?

L Abbeduto, A McDuffie, AJ Thurman - Frontiers in genetics, 2014 - frontiersin.org
Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile X
syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying …

Of men and mice: modeling the fragile X syndrome

R Dahlhaus - Frontiers in molecular neuroscience, 2018 - frontiersin.org
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …

What can we learn about autism from studying fragile X syndrome?

DB Budimirovic, WE Kaufmann - Developmental neuroscience, 2011 - karger.com
Despite early controversy, it is now accepted that a substantial proportion of children with
fragile X syndrome (FXS) meets diagnostic criteria for autism spectrum disorder (ASD). This …

Language development and fragile X syndrome: Profiles, syndrome‐specificity, and within‐syndrome differences

L Abbeduto, N Brady, ST Kover - Mental retardation and …, 2007 - Wiley Online Library
Fragile X syndrome (FXS) is the leading inherited cause of mental retardation. In this article,
we review what is known about the language and related problems of individuals with FXS …

A comparison of pragmatic language in boys with autism and fragile X syndrome

J Klusek, GE Martin, M Losh - Journal of Speech, Language, and Hearing …, 2014 - ASHA
Purpose Impaired pragmatic language (ie, language use for social interaction) is a hallmark
feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most …