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Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Citation:
Ta D, Downs J, Baynam G, Richmond P, Wilson A, Leonard H. Functional skills in MECP2 duplication syndrome: developmental dynamics and regression. Orphanet J Rare Dis. 2026;21(1).

Keywords:
MECP2 duplication syndrome; Functional skills; Intellectual disability; Neurodevelopmental; Regression; X-linked

Abstract:
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.