Journal
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Volume 45, Issue 10, Pages 3377-3383Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-015-2519-1
Keywords
Rett syndrome; Rett's syndrome; RTT; Male; Boy
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Funding
- Health Resource Services Administration Bureau of Maternal and Child Health University Centers of Excellence on Developmental Disabilities [90DD0650]
- United States Department of Education Office of Special Education [H325D120097]
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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.
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