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.
|Original language||English (US)|
|Number of pages||16|
|Journal||American journal on intellectual and developmental disabilities|
|State||Published - 2020|
Bibliographical noteFunding Information:
Funding for this study was provided by Rettsyndrome.org (grant #3116), the Mayday Fund (grant #11211) from the Mayday Fund, and the Eunice Kennedy Shriver National Institute for Child Health and Human Development (grants #44764, 101075). The authors gratefully acknowledge all of the families who participated in the study, as well the Gillette Children's Specialty Healthcare Rett Syndrome Clinic, the Midwest Rett Syndrome Foundation, and RettSyndrome.org for their assistance.
- HPA axis
- Rett syndrome
- Salivary cortisol
- Stress physiology
PubMed: MeSH publication types
- Journal Article
- Research Support, Non-U.S. Gov't
- Research Support, N.I.H., Extramural