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Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities

To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate th...

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Autores principales: Weber, Jayne Dixon, Smith, Elizabeth, Berry-Kravis, Elizabeth, Cadavid, Diego, Hessl, David, Erickson, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406416/
https://www.ncbi.nlm.nih.gov/pubmed/30678024
http://dx.doi.org/10.3390/brainsci9020018
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author Weber, Jayne Dixon
Smith, Elizabeth
Berry-Kravis, Elizabeth
Cadavid, Diego
Hessl, David
Erickson, Craig
author_facet Weber, Jayne Dixon
Smith, Elizabeth
Berry-Kravis, Elizabeth
Cadavid, Diego
Hessl, David
Erickson, Craig
author_sort Weber, Jayne Dixon
collection PubMed
description To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age of the individual with FXS. The results highlight the top priorities for treatment development for family members/caretakers, as well as a small group of professionals, and an even smaller group of individuals with FXS, while demonstrating challenges with “voice of the patient” research in FXS.
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spelling pubmed-64064162019-03-13 Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities Weber, Jayne Dixon Smith, Elizabeth Berry-Kravis, Elizabeth Cadavid, Diego Hessl, David Erickson, Craig Brain Sci Article To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age of the individual with FXS. The results highlight the top priorities for treatment development for family members/caretakers, as well as a small group of professionals, and an even smaller group of individuals with FXS, while demonstrating challenges with “voice of the patient” research in FXS. MDPI 2019-01-23 /pmc/articles/PMC6406416/ /pubmed/30678024 http://dx.doi.org/10.3390/brainsci9020018 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Weber, Jayne Dixon
Smith, Elizabeth
Berry-Kravis, Elizabeth
Cadavid, Diego
Hessl, David
Erickson, Craig
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title_full Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title_fullStr Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title_full_unstemmed Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title_short Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
title_sort voice of people with fragile x syndrome and their families: reports from a survey on treatment priorities
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406416/
https://www.ncbi.nlm.nih.gov/pubmed/30678024
http://dx.doi.org/10.3390/brainsci9020018
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