Cortisol profiles and clinical severity in MECP2 duplication syndrome.

ABSTRACT:

Background

MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features of MDS include choreiform movements, progressive spasticity, recurrent respiratory infections, developmental delays in the first 6 months of life, hypotonia, vasomotor disturbances, constipation, drooling, and bruxism. Prior studies suggest that HPA axis activity may be altered in MDS and measures of HPA axis activity may offer insight into disease severity.

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 p

SUBMITTER: Peters SU 

PROVIDER: S-EPMC7376951 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature