Nighttime sleep disturbance in Smith-Magenis Syndrome

Nighttime sleep disturbance in Smith-Magenis syndrome is a hallmark neurodevelopmental circadian manifestation affecting pediatric and adult patients with this rare genetic disorder, which typically stems from an interstitial 17p11.2 deletion or pathogenic variant in the *RAI1* gene Pathophysiologically driven by intrinsic dysregulation of central circadian pacemaker pathways, the condition is classically characterized by an inverted or phase-shifted melatonin secretion profile marked by abnorma...

Nighttime sleep disturbance in Smith-Magenis syndrome is a hallmark neurodevelopmental circadian manifestation affecting pediatric and adult patients with this rare genetic disorder, which typically stems from an interstitial 17p11.2 deletion or pathogenic variant in the *RAI1* gene

Pathophysiologically driven by intrinsic dysregulation of central circadian pacemaker pathways, the condition is classically characterized by an inverted or phase-shifted melatonin secretion profile marked by abnormally low melatonin levels at night and elevated levels during daylight hours Clinically, affected individuals experience fragmented nocturnal sleep architecture featuring difficulty maintaining sleep, recurrent nocturnal and early morning awakenings, markedly reduced total sleep time,...

Pathophysiologically driven by intrinsic dysregulation of central circadian pacemaker pathways, the condition is classically characterized by an inverted or phase-shifted melatonin secretion profile marked by abnormally low melatonin levels at night and elevated levels during daylight hours

Clinically, affected individuals experience fragmented nocturnal sleep architecture featuring difficulty maintaining sleep, recurrent nocturnal and early morning awakenings, markedly reduced total sleep time, and reciprocal excessive daytime somnolence that often exacerbates associated behavioral challenges