ERIC Number: EJ1037914
Record Type: Journal
Publication Date: 2013-Oct
Abstractor: As Provided
Reference Count: 23
Brief Report: Regression Timing and Associated Features in "MECP2" Duplication Syndrome
Peters, S. U.; Hundley, R. J.; Wilson, A. K.; Carvalho, C. M. B.; Lupski, J. R.; Ramocki, M. B.
Journal of Autism and Developmental Disorders, v43 n10 p2484-2490 Oct 2013
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.
Descriptors: Genetic Disorders, Males, Child Development, Language Skills, Seizures, Autism, Children
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A