Fragile X spectrum disorders

R Lozano, CA Rosero, RJ Hagerman - Intractable & rare diseases …, 2014 - jstage.jst.go.jp
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental
retardation 1 protein (FMRP), is located at Xp27. 3. The normal allele of the FMR1 gene …

Developmental studies in fragile X syndrome

KA Razak, KC Dominick, CA Erickson - Journal of neurodevelopmental …, 2020 - Springer
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual
disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures …

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

JK Gentile, WH Tan, LT Horowitz… - … of Developmental & …, 2010 - journals.lww.com
Objective: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion
on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is …

Metformin treatment in young children with fragile X syndrome

HMB Biag, LA Potter, V Wilkins, S Afzal… - Molecular genetics & …, 2019 - Wiley Online Library
Background Metformin is a drug commonly used in individuals with type 2 diabetes, obesity,
and impaired glucose tolerance. It has a strong safety profile in both children and adults …

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 …

Macrostructural narrative language of adolescents and young adults with Down syndrome or fragile X syndrome

LH Finestack, M Palmer, L Abbeduto - 2012 - ASHA
Purpose To gain a better understanding of language abilities, the expressive
macrostructural narrative language abilities of verbally expressive adolescents and young …

A retrospective video analysis of canonical babbling and volubility in infants with fragile X syndrome at 9–12 months of age

K Belardi, LR Watson, RA Faldowski, H Hazlett… - Journal of autism and …, 2017 - Springer
An infant's vocal capacity develops significantly during the first year of life. Research
suggests early measures of pre-speech development, such as canonical babbling and …

Systematic mapping of fragile X granules in the mouse brain reveals a potential role for presynaptic FMRP in sensorimotor functions

MR Akins, HF LeBlanc, EE Stackpole… - Journal of …, 2012 - Wiley Online Library
Loss of Fragile X mental retardation protein (FMRP) leads to Fragile X syndrome (FXS), the
most common form of inherited intellectual disability and autism. Although the functions of …

Mapping developmental trajectories of attention and working memory in fragile X syndrome: developmental freeze or developmental change?

K Cornish, V Cole, E Longhi… - Development and …, 2013 - cambridge.org
Fragile X syndrome (FXS) has a characteristic cognitive “signature” that by late childhood
includes core weaknesses in attention and working memory (WM), but their earlier …

Effect of sustained maternal responsivity on later vocabulary development in children with fragile X syndrome

N Brady, SF Warren, K Fleming, J Keller, A Sterling - 2014 - ASHA
Purpose This research explored whether sustained maternal responsivity (a parent–child
interaction style characterized by warmth, nurturance, and stability as well as specific …