Abstract | BACKGROUND: METHODS: To ascertain whether cortisol profiles are a potential biomarker of clinical severity, diurnal profiles of cortisol and the cortisol awakening response were examined from saliva samples in 31 participants with MDS (ages 2-24 years), and 27 of these samples were usable. Documentation of a positive diagnostic test for MECP2 duplication was required for entry into the study. Samples were collected on each of two consecutive weekdays at four time points during the day: immediately after waking, 30 min after waking, between 3 and 4 PM, and in the evening before bedtime. Correlations with duplication size, clinical severity, sleep problems, and behavior were also examined. RESULTS: Results revealed that a majority of participants with MDS exhibit a declining cortisol awakening response (n = 17). A declining CAR was significantly associated with increased clinical severity scores (r = - .508; p = .03), larger duplication size, waking later, and an increased number of hospitalizations for infections. CONCLUSIONS: Future mechanistic studies will have to determine whether the declining CAR in MDS is attributable to problems with "flip-flop switching" of regional brain activation (involving the suprachiasmatic nucleus and the hippocampus, and the HPA axis) that is responsible for the switch from reduced to increased adrenal sensitivity. Taken together, results suggest the possibility that cortisol profiles could potentially be a biomarker of clinical severity and utilized for the purposes of patient stratification for future clinical trials in MDS.
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Authors | Sarika U Peters, Cary Fu, Jeffrey L Neul, Douglas A Granger |
Journal | Journal of neurodevelopmental disorders
(J Neurodev Disord)
Vol. 12
Issue 1
Pg. 19
(07 22 2020)
ISSN: 1866-1955 [Electronic] England |
PMID | 32698758
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Chemical References |
- Biomarkers
- Hydrocortisone
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Topics |
- Adolescent
- Biomarkers
- Child
- Child, Preschool
- Chromosome Duplication
- Female
- Humans
- Hydrocortisone
(metabolism)
- Male
- Mental Retardation, X-Linked
(metabolism)
- Saliva
- Severity of Illness Index
- Young Adult
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