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- Title
Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome.
- Authors
Byiers, Breanne J.; Payen, Ameante; Feyma, Timothy; Panoskaltsis-Mortari, Angela; Ehrhardt, Michael J.; Symons, Frank J.
- Abstract
Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns from 30 females with RTT were examined in relation to mutation type, medication use, and features of the RTT behavioral phenotype. Cortisol patterns were significantly related to mutation severity, anticonvulsant medication status, and bruxism (tooth grinding). This study provides preliminary support for the hypothesis that RTT may be at risk for outcomes associated with aberrant HPA axis function, and that this risk may be mediated by mutation type.
- Subjects
RETT syndrome; HYDROCORTISONE; GENETIC mutation; BRUXISM; DRUGS; PHENOTYPES
- Publication
American Journal on Intellectual & Developmental Disabilities, 2020, Vol 125, Issue 5, p353
- ISSN
1944-7515
- Publication type
journal article
- DOI
10.1352/1944-7558-125.5.353