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

1
National Fragile X Foundation, McLean, VA 22102, USA
2
Cincinnati Children’s Hospital Medical Center Division of Child & Adolescent Psychiatry, Cincinnati, OH 45229, USA
3
Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA
4
Fulcrum Therapeutics, Cambridge, MA 02139, USA
5
MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA 95817, USA
6
Cincinnati Children’s Hospital Medical Center, Division of Child & Adolescent Psychiatry and the University of Cincinnati College of Medicine Department of Psychiatry and Behavioral Neuroscience, Cincinnati, OH 45229, USA
*
Authors to whom correspondence should be addressed.
Brain Sci. 2019, 9(2), 18; https://doi.org/10.3390/brainsci9020018
Received: 14 December 2018 / Revised: 16 January 2019 / Accepted: 16 January 2019 / Published: 23 January 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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. View Full-Text
Keywords: fragile X syndrome; FMR1 gene; voice of the person; voice of the patient; characteristics that have the greatest impact; developmental disorders fragile X syndrome; FMR1 gene; voice of the person; voice of the patient; characteristics that have the greatest impact; developmental disorders
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Weber, J.D.; Smith, E.; Berry-Kravis, E.; Cadavid, D.; Hessl, D.; Erickson, C. Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities. Brain Sci. 2019, 9, 18.

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