TY - JOUR
T1 - Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome
T2 - Parent and Caregiver Perspectives
AU - Lozano, Reymundo
AU - Thompson, Talia
AU - Dixon-Weber, Jayne
AU - Erickson, Craig A.
AU - Berry-Kravis, Elizabeth
AU - Williams, Sara
AU - Smith, Elizabeth
AU - Frazier, Jean A.
AU - Rosselot, Hilary
AU - Farmer, Cristan
AU - Hessl, David
N1 - Funding Information:
We thank all the families and self-advocates who participated in this study, and the National Fragile X Foundation. R.L. receives funding from NIH-NINDS (1K01NS126736-01). No support other than mentioned in funding and author contributions sections was provided.
Publisher Copyright:
© 2022 by the authors.
PY - 2022/9
Y1 - 2022/9
N2 - Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because most individuals cannot reliably report internal emotional or body states. A comprehensive survey of the presence, frequency, and duration of anxiety-related symptoms and questions to elicit open-ended responses was completed by caregivers of 456 individuals with FXS, ages 2–81 years (87 female, 369 male) and 24 female and 2 male FXS self-advocates ages 15–66 years. Caregivers reported classic behavioral indicators of anxiety, such as avoidance, irritability, motor agitation, and physiological symptoms, as well as behavioral features in FXS such as repetitive behavior, aggression, and self-injury. Self-advocate accounts largely paralleled caregiver data. Factor analyses yielded four factors: (1) increased irritability, aggression, and self-injury; (2) increased physical movement, nervous activity, and restlessness; (3) physical and physiological features of anxiety; and (4) internalizing and gastrointestinal symptoms. Caregivers are capable of observing and reporting behaviors that are valid indicators of anxious states that are usually reported in self-report standardized assessments. These results support the development of an anxiety measure for FXS that minimizes problems with rater inference.
AB - Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because most individuals cannot reliably report internal emotional or body states. A comprehensive survey of the presence, frequency, and duration of anxiety-related symptoms and questions to elicit open-ended responses was completed by caregivers of 456 individuals with FXS, ages 2–81 years (87 female, 369 male) and 24 female and 2 male FXS self-advocates ages 15–66 years. Caregivers reported classic behavioral indicators of anxiety, such as avoidance, irritability, motor agitation, and physiological symptoms, as well as behavioral features in FXS such as repetitive behavior, aggression, and self-injury. Self-advocate accounts largely paralleled caregiver data. Factor analyses yielded four factors: (1) increased irritability, aggression, and self-injury; (2) increased physical movement, nervous activity, and restlessness; (3) physical and physiological features of anxiety; and (4) internalizing and gastrointestinal symptoms. Caregivers are capable of observing and reporting behaviors that are valid indicators of anxious states that are usually reported in self-report standardized assessments. These results support the development of an anxiety measure for FXS that minimizes problems with rater inference.
KW - FMR1 gene
KW - assessment
KW - autism
KW - intellectual disability
UR - http://www.scopus.com/inward/record.url?scp=85138523265&partnerID=8YFLogxK
U2 - 10.3390/genes13091660
DO - 10.3390/genes13091660
M3 - Article
AN - SCOPUS:85138523265
VL - 13
JO - Genes
JF - Genes
SN - 2073-4425
IS - 9
M1 - 1660
ER -