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Phenotypic features in MECP2 duplication syndrome: Effects of age by Sarika U. Peters; Cary Fu; Eric D. Marsh; Tim A. Benke; Bernard Suter; Steve A. Skinner; David N. Lieberman; Shannon Standridge; Mary Jones; Arthur Beisang; Timothy Feyma; Peter Heydeman; Robin Ryther; Daniel G. Glaze; Alan K. Percy; Jeffrey L. Neul is a scholarly article available to read on EtoBox.

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## Background: Mecp2 duplication syndrome (mds) is a rare x-linked genomic disorder that is caused by interstitial chromosomal duplications at xq28 encompassing the mecp2 gene. although phenotypic features in mds have been described, there is a limited understanding of the range of severity of these features, and how they evolve with age. ## Methods: The cross-sectional results of n = 69 participants (ages 6 months-33 years) enrolled in a natural history study of mds are presented. clinical severity was assessed using a clinician-report measure as well as a parent-report measure. data was also gathered related to the top 3 concerns of parents as selected from the most salient symptoms related to mds. the child health questionnaire was also utilized to obtain parental reports of each child's quality of life to establish disease burden. ## Results: The results of linear regression from the clinician-reported measure show that overall clinical severity scores, motor dysfunction, and functional skills are significantly worse with increasing age. top concerns rated by parents included lack of effective communication, abnormal walking/balance issues, constipation, and seizures. higher le

Author

Sarika U. Peters; Cary Fu; Eric D. Marsh; Tim A. Benke; Bernard Suter; Steve A. Skinner; David N. Lieberman; Shannon Standridge; Mary Jones; Arthur Beisang; Timothy Feyma; Peter Heydeman; Robin Ryther; Daniel G. Glaze; Alan K. Percy; Jeffrey L. Neul

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2020

Language

EN