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J Autism Dev Disord. 2015 Oct;45(10):3377-83. doi: 10.1007/s10803-015-2519-1.

Brief report: systematic review of Rett syndrome in males.

Author information

1
AJ Pappanikou Center for Excellence in Developmental Disabilities, University of Connecticut Health Center, Farmington, CT, USA. breichow@coe.ufl.edu.
2
University of Florida, 1345Q Norman Hall, PO Box 117050, Gainesville, FL, 32661-7050, USA. breichow@coe.ufl.edu.
3
University of Connecticut, Storrs, CT, USA.
4
AJ Pappanikou Center for Excellence in Developmental Disabilities, University of Connecticut Health Center, Farmington, CT, USA.
5
Yale Child Study Center, New Haven, CT, USA.

Abstract

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.

KEYWORDS:

Boy; Male; RTT; Rett syndrome; Rett’s syndrome

PMID:
26254891
DOI:
10.1007/s10803-015-2519-1
[Indexed for MEDLINE]

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