Rett Syndrome Diagnostic Criteria: Lessons from the Natural History Study

被引：96

作者：

Percy, Alan K. ^{[1
,2
]}

Neul, Jeffrey L. ^{[3
]}

Glaze, Daniel G. ^{[3
]}

Motil, Kathleen J. ^{[4
]}

Skinner, Steven A. ^{[5
]}

Khwaja, Omar ^{[6
]}

Lee, Hye-Seung ^{[7
]}

Lane, Jane B. ^{[1
,2
]}

Barrish, Judy O. ^{[3
]}

Annese, Fran ^{[5
]}

McNair, Lauren ^{[5
]}

Graham, Joy ^{[5
]}

Barnes, Katherine ^{[6
]}

机构：

[1] Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

[2] Univ Alabama, Civitan Int Res Ctr, Birmingham, AL USA

[3] Baylor Coll Med, Dept Pediat Neurol, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Pediat Gastroenterol, Houston, TX 77030 USA

[5] Greenwood Genet Ctr, Dept Genet, Greenwood, SC 29646 USA

[6] Harvard Univ, Dept Neurol, Cambridge, MA 02138 USA

[7] Univ S Florida, Dept Pediat Neurol, Tampa, FL USA

来源：

ANNALS OF NEUROLOGY | 2010年 / 68卷 / 06期

关键词：

SEVERE MENTAL-RETARDATION; MECP2; GENE; LARGE DELETIONS; DUPLICATION; INCLUSION; MUTATIONS; REGION; XQ28;

D O I：

10.1002/ana.22154

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Analysis of 819 participants. enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This. analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria. ANN NEUROL 2010;68:951-955

引用

页码：951 / 955

页数：5

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