Brief Report: Regression Timing and Associated Features in "MECP2" Duplication Syndrome

Autor/inn/en	Peters, S. U.; Hundley, R. J.; Wilson, A. K.; Carvalho, C. M. B.; Lupski, J. R.; Ramocki, M. B.
Titel	Brief Report: Regression Timing and Associated Features in "MECP2" Duplication Syndrome
Quelle	In: Journal of Autism and Developmental Disorders, 43 (2013) 10, S.2484-2490 (7 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-013-1796-9
Schlagwörter	Genetic Disorders; Males; Child Development; Language Skills; Seizures; Autism; Children + Suchen Sie Ihr Suchwort? Male; Männliches Geschlecht; Kindesentwicklung; Language skill; Sprachkompetenz; Anfallsleiden; Autismus; Child; Kind; Kinder
Abstract	The aim of this study was to determine the frequency, timing, and associated features of developmental regression in "MECP2" duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with "MECP2" duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in "other skill" areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10