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.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Peters SU,Byiers BJ,Symons FJdoi
10.1177/0883073815585577subject
Has Abstractpub_date
2016-02-01 00:00:00pages
159-63issue
2eissn
0883-0738issn
1708-8283pii
0883073815585577journal_volume
31pub_type
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