title: Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome.
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.
authors.affiliation: Department of Pediatrics, Vanderbilt University, Nashville, TN, USA Vanderbilt Kennedy Center for Research on Human Development, Nashville, TN, USA sarika.u.peters@vanderbilt.edu.
authors.forename: Sarika U
authors.initials: SU
authors.lastname: Peters
authors.affiliation: Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Breanne J
authors.initials: BJ
authors.lastname: Byiers
authors.affiliation: Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Symons
mesh_terms: D002648:Child; D002675:Child, Preschool; D002940:Circadian Rhythm / Q000502:physiology*; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000378:metabolism* / Q000523:psychology*; D012463:Saliva / Q000378:metabolism*; D055815:Young Adult
chemical_list: D006854:Hydrocortisone
keywords: MECP2; cortisol; regression