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 …

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 …

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 …

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)

E Berry-Kravis, R Hagerman, D Budimirovic… - Journal of …, 2022 - Springer
Abstract Background Fragile X syndrome (FXS) is associated with dysregulated
endocannabinoid signaling and may therefore respond to cannabidiol therapy. Design …

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial

EM Berry-Kravis, D Hessl, B Rathmell… - Science translational …, 2012 - science.org
Research on animal models of fragile X syndrome suggests that STX209, a γ-aminobutyric
acid type B (GABAB) agonist, might improve neurobehavioral function in affected patients …

Arbaclofen in fragile X syndrome: results of phase 3 trials

E Berry-Kravis, R Hagerman, J Visootsak… - Journal of …, 2017 - Springer
Background Arbaclofen improved multiple abnormal phenotypes in animal models of fragile
X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of …

Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome

JL Olmos-Serrano, SM Paluszkiewicz… - Journal of …, 2010 - jneurosci.org
Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by variable
cognitive impairment and behavioral disturbances such as exaggerated fear, anxiety 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 …

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 …

Fragile X targeted pharmacotherapy: lessons learned and future directions

CA Erickson, MH Davenport, TL Schaefer… - Journal of …, 2017 - Springer
Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and
numerous potential drug targets have been identified. Yet, current prescribing practices are …