Abstract
MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pituitary-adrenal axis, including diurnal patterns in salivary cortisol, were examined in 4 males with MECP2 duplication syndrome who had regression and 4 males with the same syndrome without regression (aged 3-22 years). Individuals who had experienced regression do not exhibit typical diurnal cortisol rhythms, and their profiles were flatter through the day. In contrast, individuals with MECP2 duplication syndrome who had not experienced regression showed more typical patterns of higher cortisol levels in the morning with linear decreases throughout the day. This study is the first to suggest a link between atypical diurnal cortisol rhythms and regression status in MECP2 duplication syndrome and may have implications for treatment.
Original language | English (US) |
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Pages (from-to) | 159-163 |
Number of pages | 5 |
Journal | Journal of Child Neurology |
Volume | 31 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1 2016 |
Bibliographical note
Funding Information:We also wish to thank the individuals and families who so graciously participated in this study. The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Funding for this project has been provided by a Vanderbilt Kennedy Center Hobbs Discovery Grant (to SUP), and by 5P30HD015052-30 (to ED, principal investigator). Funding has also been provided by National Institutes of Health Grant No. HD44763 (to FJS, principal investigator). The funders played no part in study design, data collection, or data analysis for this study and were not involved in the preparation of the manuscript or the decision to submit for publication.
Funding Information:
The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Funding for this project has been provided by a Vanderbilt Kennedy Center Hobbs Discovery Grant (to SUP), and by 5P30HD015052-30 (to ED, principal investigator). Funding has also been provided by National Institutes of Health Grant No. HD44763 (to FJS, principal investigator). The funders played no part in study design, data collection, or data analysis for this study and were not involved in the preparation of the manuscript or the decision to submit for publication.
Publisher Copyright:
© The Author(s) 2015.
Keywords
- MECP2
- cortisol
- regression