scholarly journals Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome

2017 ◽  
Vol 26 (6) ◽  
pp. 1333-1340 ◽  
Author(s):  
Victoria Reines ◽  
Krista Charen ◽  
Tracie Rosser ◽  
Arri Eisen ◽  
Stephanie L. Sherman ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Down Syndrome ◽  
Qualitative Study ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Parental Perspectives

Parent Perspectives on Augmentative and Alternative Communication Integration for Children With Fragile X Syndrome: It Starts in the Home

2020 ◽  
Vol 58 (5) ◽  
pp. 409-421
Author(s):  
Michelle Schladant ◽  
Monica Dowling
Keyword(s):  
Qualitative Study ◽  
Fragile X Syndrome ◽  
Augmentative And Alternative Communication ◽  
Fragile X ◽  
Parent Perspectives ◽  
Personal Factors ◽  
Alternative Communication ◽  
Complex Communication Needs ◽  
Parental Perspectives ◽  
Communication Needs

Abstract Many children with fragile X syndrome (FXS) have complex communication needs and may benefit from augmentative and alternative communication (AAC). This qualitative study explored how four mother–child dyads used AAC in the home. Data were collected using participant observations, open-ended interviews, and record reviews, and analyzed using grounded theory methods. Findings revealed that mothers found AAC to be a useful tool for addressing their children's complex communication needs, but practical and personal factors impacted its use in the home. This study sheds light on how mothers of children with FXS view and utilize AAC as a way to promote communication at home. Understanding parental perspectives can help to guide professionals in planning appropriate AAC interventions specific to FXS.

Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials

Biomarkers ◽  
2016 ◽  
Vol 21 (6) ◽  
pp. 497-508 ◽  
Author(s):  
David Pellerin ◽  
Artuela Çaku ◽  
Mathieu Fradet ◽  
Paméla Bouvier ◽  
Jean Dubé ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Fragile X Syndrome ◽  
Outcome Measures ◽  
Fragile X ◽  
Signaling Cascades ◽  
Erk Pathway

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

2016 ◽  
Vol 30 (5) ◽  
pp. 970-974 ◽  
Author(s):  
Wilmar Saldarriaga ◽  
Fabian Andres Ruiz ◽  
Flora Tassone ◽  
Randi Hagerman
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

Validation of Hagerman’s behavioral phenotype for fragile X syndrome among men with intellectual disability

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Jacques Bellavance ◽  
Morin Diane ◽  
Catherine Mello
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Design Methodology ◽  
Fragile X ◽  
Behavioral Phenotype ◽  
Care Providers ◽  
Content Type

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1

2021 ◽  
Vol 1751 ◽  
pp. 147205
Author(s):  
Valérie Côté ◽  
Ève Lalancette ◽  
Inga S. Knoth ◽  
Lucie Côté ◽  
Kristian Agbogba ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Tuberous Sclerosis ◽  
Fragile X Syndrome ◽  
Tuberous Sclerosis Complex ◽  
Fragile X ◽  
Repetition Suppression
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