Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
C Bagni, F Tassone, G Neri… - The Journal of clinical …, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …
Fragile X syndrome
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion,
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
Public health literature review of fragile X syndrome
M Raspa, AC Wheeler, C Riley - Pediatrics, 2017 - publications.aap.org
OBJECTIVES: The purpose of this systematic literature review is to describe what is known
about fragile X syndrome (FXS) and to identify research gaps. The results can be used to …
about fragile X syndrome (FXS) and to identify research gaps. The results can be used to …
Health and economic consequences of fragile X syndrome for caregivers
DB Bailey Jr, M Raspa, E Bishop, D Mitra… - … of Developmental & …, 2012 - journals.lww.com
Objective: To describe the health and economic burden experienced by caregivers of
individuals with fragile X syndrome (FXS) and test the assumption that burden is associated …
individuals with fragile X syndrome (FXS) and test the assumption that burden is associated …
Aggression in fragile X syndrome
AC Wheeler, M Raspa, E Bishop… - Journal of intellectual …, 2016 - Wiley Online Library
Background Individuals with fragile X syndrome (FXS), especially men, have long been
described as presenting with significant behavioural challenges. Despite this known aspect …
described as presenting with significant behavioural challenges. Despite this known aspect …
Exploring the potential of small molecule-based therapeutic approaches for targeting trinucleotide repeat disorders
In recent years, neurological disorders have globally become a leading cause of disability
and death. Neurological disorders are very common in both high-and low-income countries …
and death. Neurological disorders are very common in both high-and low-income countries …
Functional analysis and treatment of problem behavior exhibited by children with fragile X syndrome
PF Kurtz, MD Chin, AN Robinson, JT O'Connor… - Research in …, 2015 - Elsevier
The efficacy of function-based interventions for the treatment of severe problem behavior
exhibited by individuals with intellectual and developmental disabilities (IDD) is well …
exhibited by individuals with intellectual and developmental disabilities (IDD) is well …
Non‐pharmacological management of problematic sleeping in children with developmental disabilities
K Spruyt, LMG Curfs - Developmental Medicine & Child …, 2015 - Wiley Online Library
Aim Sleep is important for underlying neural plasticity, and children with developmental
disabilities suffer behavioural, emotional, cognitive, and sensory–motor issues that affect …
disabilities suffer behavioural, emotional, cognitive, and sensory–motor issues that affect …
Predictors, parental views, and concordance across diagnostic sources of autism in male youth with fragile X syndrome: clinical best estimate and community …
Persons with fragile X syndrome (FXS) with cooccurring autism spectrum disorder (ASD) are
at risk for poorer educational, medical, employment, and independent living outcomes. Thus …
at risk for poorer educational, medical, employment, and independent living outcomes. Thus …
The current status of indirect functional assessment instruments
BA Dufrene, JS Kazmerski… - Psychology in the Schools, 2017 - Wiley Online Library
The Individuals with Disabilities Education Improvement Act requires that functional
behavior assessments be conducted under certain circumstances for students with …
behavior assessments be conducted under certain circumstances for students with …