Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

Abstract

Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. Results suggest that adults with WS have a typical diurnal cortisol profile that may be sensitive to social and activity transitions throughout the day.

A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

“…This cortisol awakening response in patients with WBS is consistent with the levels of stress of somatic complaints and social difficulties that they experience throughout the day13). This infers that hypothalamic pituitary adrenal axis is normal in the majority of the patients with WBS and the adrenal gland is able to respond to stress13). Our patient showed secondary adrenal insufficiency which suggests that there is a need for screening for this abnormality in children with WBS.…”

“…The diurnal cortisol rhythm is altered with elevated cortisol late in the day13). This cortisol awakening response in patients with WBS is consistent with the levels of stress of somatic complaints and social difficulties that they experience throughout the day13). This infers that hypothalamic pituitary adrenal axis is normal in the majority of the patients with WBS and the adrenal gland is able to respond to stress13).…”

“…However, abnormalities of hypothalamic adrenal axis have been studied in adults with WBS13). The diurnal cortisol rhythm is altered with elevated cortisol late in the day13). This cortisol awakening response in patients with WBS is consistent with the levels of stress of somatic complaints and social difficulties that they experience throughout the day13).…”

“…However, abnormalities of hypothalamic adrenal axis have been studied in adults with WBS13). The diurnal cortisol rhythm is altered with elevated cortisol late in the day13).…”

The effect of working on-call on stress physiology and sleep: A systematic review

“…The circadian rhythm of cortisol means that the timing of the saliva collection is critical in order to make comparisons between days. Typically, saliva samples are collected based on either time of awakening [58][59][60][61] or time of day [62][63][64][65]. The samples in this study were collected "before going to sleep" and, as such, may have been at different times on different days, limiting the conclusions that can be drawn.…”