TY - JOUR
T1 - Sleep problems in fragile X syndrome
T2 - Cross-sectional analysis of a large clinic-based cohort
AU - for the FORWARD Consortium
AU - Budimirovic, Dejan B.
AU - Protic, Dragana D.
AU - Delahunty, Carol M.
AU - Andrews, Howard F.
AU - Choo, Tse Hwei
AU - Xu, Qing
AU - Berry-Kravis, Elizabeth
AU - Kaufmann, Walter E.
N1 - Publisher Copyright:
© 2021 Wiley Periodicals LLC.
PY - 2022/4
Y1 - 2022/4
N2 - Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism spectrum disorder, is associated with multiple neurobehavioral abnormalities including sleep difficulties. Nonetheless, frequency, severity, and consequences of sleep problems are still unclear. The Fragile X Online Registry with Accessible Research Database (FORWARD-version-3), including Clinician Report and Parent Report forms, was analyzed for frequency, severity, relationship with behavioral problems, and impact of sleep difficulties in a mainly pediatric cohort. A focused evaluation of sleep apnea was also conducted. Six surveyed sleep difficulties were moderately frequent (~23%–46%), relatively mild, affected predominantly younger males, and considered a problem for 7%–20% of families. Snoring was more prevalent in older individuals. All sleep difficulties were associated with irritability/aggression and most also to hyperactivity. Only severe snoring was correlated with sleep apnea (loud snoring: 30%; sleep apnea: 2%–3%). Sleep difficulties are prevalent in children with FXS and, although they tend to be mild, they are associated with behavioral problems and negative impact to families. Because of its cross-sectional nature, clinic-origin, use of ad hoc data collection forms, and lack of treatment data, the present study should be considered foundational for future research aiming at better recognition and management of sleep problems in FXS.
AB - Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism spectrum disorder, is associated with multiple neurobehavioral abnormalities including sleep difficulties. Nonetheless, frequency, severity, and consequences of sleep problems are still unclear. The Fragile X Online Registry with Accessible Research Database (FORWARD-version-3), including Clinician Report and Parent Report forms, was analyzed for frequency, severity, relationship with behavioral problems, and impact of sleep difficulties in a mainly pediatric cohort. A focused evaluation of sleep apnea was also conducted. Six surveyed sleep difficulties were moderately frequent (~23%–46%), relatively mild, affected predominantly younger males, and considered a problem for 7%–20% of families. Snoring was more prevalent in older individuals. All sleep difficulties were associated with irritability/aggression and most also to hyperactivity. Only severe snoring was correlated with sleep apnea (loud snoring: 30%; sleep apnea: 2%–3%). Sleep difficulties are prevalent in children with FXS and, although they tend to be mild, they are associated with behavioral problems and negative impact to families. Because of its cross-sectional nature, clinic-origin, use of ad hoc data collection forms, and lack of treatment data, the present study should be considered foundational for future research aiming at better recognition and management of sleep problems in FXS.
KW - fragile X syndrome
KW - insomnia
KW - problem behaviors
KW - quality of life
KW - sleep apnea
UR - http://www.scopus.com/inward/record.url?scp=85120956431&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85120956431&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.62601
DO - 10.1002/ajmg.a.62601
M3 - Article
C2 - 34889523
AN - SCOPUS:85120956431
SN - 1552-4825
VL - 188
SP - 1029
EP - 1039
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -