The goal of this pilot project is to determine whether melatonin levels are disordered in
patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct
abnormal circadian rhythms in SMS patients. In addition, the study investigates the effects
of bright light in an elderly control population that exhibits low melatonin secretion.
Participation involves 5 stages for SMS patients. First, Subjects will complete 4 sessions
of 25-hour salivary or plasma sampling, with the last sampling occurring in front of a
bright light box. Second, subjects will enroll in the melatonin treatment phase, involving a
daily dose (up to 3 mg) for up to one year, with frequent (every 2-4 weeks) of 25-hour
salivary or plasma sampling. During this stage, the subject and/or caregiver may also be
asked to wear an activity wrist monitor, complete a daily sleep diary and behavioral
questionnaires. Third, the subject may be asked to complete up to 3 25-hour sampling periods
and take a melatonin pill on the same day to test how their body metabolizes the hormone,
melatonin. The fourth stage is for subjects who are found to have an abnormal body rhythm.
Subjects will complete a 25-hour plasma sampling period under bedrest to test for a hormone,
Cortisol. The fifth stage is an optional 12-hour sleep analysis (polysomnography) to test
for sleep disorders.
Control participants will complete an abbreviated protocol of the 3 baseline 25-hour
sampling periods and 1 involving bright light exposure.
- Control participants:
- 30 individuals: ages 55-85,
- healthy without significant active medical problems.
- SMS patients:
- 20 individuals: ages 3-50,
- with a clinical diagnosis of Smith-Magenis Syndrome by a qualified Medical
Geneticist, confirmed by cytogenetic analysis documenting deletion of chromosome
- Control participants:
- A current Axis I psychiatric or substance abuse disorder according to the DSM-IV
Manual, abnormal heart, liver or kidney function, diagnoses of neurodegenerative
or cerebrovascular disease (Alzheimer's disease, Parkinson's disease, stroke,
- cognitive impairment (Mini-Mental State Score < 23) but without a formal
diagnosis of dementia,
- active symptoms of depression (Geriatric Depression Scale: 30 pt. version > 10),
- current diagnosis of cataracts,
- macular degeneration or retinopathy based on eye exam by an optometrist or
ophthalmologist within the past year.