Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

Early intervention for children with intellectual disabilities: An update

MJ Guralnick - Journal of Applied Research in Intellectual …, 2017 - Wiley Online Library
This article provides an update on advances in both developmental and intervention science
that have occurred in the field of early intervention for children with developmental delays in …

[HTML][HTML] Parent-mediated intervention training delivered remotely for children with autism spectrum disorder living outside of urban areas: Systematic review

D Parsons, R Cordier, S Vaz, HC Lee - Journal of medical Internet …, 2017 - jmir.org
Background: Parent training programs for families living outside of urban areas can be used
to improve the social behavior and communication skills in children with autism spectrum …

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 …

Effects of AFQ056 on language learning in fragile X syndrome

E Berry-Kravis, L Abbeduto… - The Journal of …, 2024 - Am Soc Clin Investig
BACKGROUND FXLEARN, the first-ever large multisite trial of effects of disease-targeted
pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of …

ASD comorbidity in fragile X syndrome: Symptom profile and predictors of symptom severity in adolescent and young adult males

L Abbeduto, AJ Thurman, A McDuffie, J Klusek… - Journal of Autism and …, 2019 - Springer
Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD
symptoms in adolescent and young adult males with FXS (n= 44) and (2) evaluate the …

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome

AJ Thurman, LA Potter, K Kim, F Tassone… - Journal of …, 2020 - Springer
Background The 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 …

Coaching via telehealth: Caregiver-mediated interventions for young children on the waitlist for an autism diagnosis using single-case design

MG Kunze, W Machalicek, Q Wei… - Journal of Clinical …, 2021 - mdpi.com
Years can elapse between parental suspicion of a developmental delay and a diagnostic
assessment, ultimately delaying access to medically necessary, autism-specific intervention …

Effects of a parent training using telehealth: Equity and access to early intervention for rural families

D Rooks-Ellis, SK Howorth, M Kunze… - Journal of Childhood …, 2020 - j-ces.com
Children living in geographically rural areas may have limited access to early, intensive
evidence-based interventions suggesting children residing in these areas are less likely to …

Bridging knowledge gaps to understand how Zika virus exposure and infection affect child development

BG Kapogiannis, N Chakhtoura, R Hazra… - JAMA …, 2017 - jamanetwork.com
Importance The Zika virus (ZIKV) epidemic has profoundly affected the lives of children and
families across the Americas. As the number of children born with ZIKV-related …