Pivotal Study of ZYN002 Cannabidiol (CBD) Transdermal Gel in Children and Adolescents With Fragile X Syndrome: Role of Methylation Status as a Correlate to Disease Severity and Prognostic Biomarker

2020 ◽  
Vol 59 (10) ◽  
pp. S265
Author(s):  
Elizabeth Berry-Kravis ◽  
Craig A. Erickson ◽  
Randi Hagerman ◽  
Nicole Tartaglia ◽  
Jonathan Cohen ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Fragile X Syndrome ◽  
Disease Severity ◽  
Prognostic Biomarker ◽  
Fragile X ◽  
Methylation Status ◽  
Pivotal Study

A Pivotal Study of ZYN002 Cannabidiol (CBD) Transdermal Gel in Children and Adolescents With Fragile X Syndrome [CONNECT-FX (ZYN2-CL-016)]

2021 ◽  
Vol 89 (9) ◽  
pp. S226-S227
Author(s):  
Elizabeth Berry-Kravis ◽  
Randi Hagerman ◽  
Dejan Budimirovic ◽  
Craig Erickson ◽  
Helen Heussler ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Pivotal Study

scholarly journals Role of microRNA Pathway in Mental Retardation

2007 ◽  
Vol 7 ◽  
pp. 146-154 ◽  
Author(s):  
Abrar Qurashi ◽  
Shuang Chang ◽  
Peng Jin
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Genetic Basis ◽  
Fragile X ◽  
Biological Pathways ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Mirna Pathway ◽  
Microrna Pathway

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP).MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.

scholarly journals The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence

2015 ◽  
Vol 28 (4pt2) ◽  
pp. 1457-1469 ◽  
Author(s):  
Eve-Marie Quintin ◽  
Booil Jo ◽  
Scott S. Hall ◽  
Jennifer L. Bruno ◽  
Lindsay C. Chromik ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Fragile X Syndrome ◽  
Processing Speed ◽  
Fragile X ◽  
Cognitive Profile ◽  
Brain Morphology ◽  
Childhood And Adolescence ◽  
Normative Sample ◽  
Treatment Research ◽  
Prospective Longitudinal

AbstractFew studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial–constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research.

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