Advances in the treatment of fragile X syndrome

RJ Hagerman, E Berry-Kravis, WE Kaufmann… - …, 2009 - publications.aap.org
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-
deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with …

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 …

Sensory Experiences Questionnaire: discriminating sensory features in young children with autism, developmental delays, and typical development

GT Baranek, FJ David, MD Poe… - Journal of child …, 2006 - Wiley Online Library
Background: This study describes a new caregiver‐report assessment, the Sensory
Experiences Questionnaire (SEQ), and explicates the nature of sensory patterns of hyper …

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization

L Cordeiro, E Ballinger, R Hagerman… - Journal of …, 2011 - Springer
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID).
Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there …

Autism profiles of males with fragile X syndrome

SW Harris, D Hessl, B Goodlin-Jones… - … Journal on Mental …, 2008 - meridian.allenpress.com
Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose.
We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS …

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP

DD Hatton, J Sideris, M Skinner… - American journal of …, 2006 - Wiley Online Library
We examined autistic behavior in a cross‐sectional sample of 179 children with fragile X
syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism …

Hyperresponsive sensory patterns in young children with autism, developmental delay, and typical development

GT Baranek, BA Boyd, MD Poe… - … Journal on Mental …, 2007 - meridian.allenpress.com
The nature of hyperresponsiveness to sensory stimuli in children with autism, using a new
observational measure, the SPA, was examined. Three groups of young participants were …

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1

S Jacquemont, RJ Hagerman, PJ Hagerman… - The Lancet …, 2007 - thelancet.com
Recent advances in our understanding of the clinical and molecular features of the fragile-X
mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders. 15 …

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

RJ Hagerman - Journal of Developmental & Behavioral Pediatrics, 2006 - journals.lww.com
The fragile X mental retardation 1 gene (FMR1) mutation causes two disorders: fragile X
syndrome (FXS) in those with the full mutation and the fragile X-associated tremor/ataxia …

[HTML][HTML] Fragile X: leading the way for targeted treatments in autism

LW Wang, E Berry-Kravis, RJ Hagerman - Neurotherapeutics, 2010 - Elsevier
Two different mutations in the FMR1 gene may lead to autism. The full mutation, with> 200
CGG repeats in the 5′ end of FMR1, leads to hypermethylation and transcriptional …