Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.

ABSTRACT: Smith-Magenis syndrome (SMS) is a contiguous gene syndrome linked to interstitial microdeletion, or mutation of RAI1, within chromosome 17p11.2. Key behavioral features of SMS include intellectual disability, sleep-disturbances, maladaptive, aggressive and self-injurious behaviors, hyperactivity, and sudden changes in mood. A distinguishing feature of this syndrome is an inverted pattern of melatonin characterized by elevated daytime and low nighttime melatonin levels. As the central circadian clock controls the 24-hr rhythm of melatonin, we hypothesized that the clock itself may contribute to the disrupted pattern of melatonin and sleep. In this report, 24-hr patterns of body temperature, a surrogate marker of clock-timing, and continuous wrist activity were collected to examine the links

SUBMITTER: Smith ACM 

PROVIDER: S-EPMC6699156 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature