RETT-SYNDROME-101SoutheastRSAlliance
RETT-SYNDROME-101SoutheastRSAlliance
（點擊下圖可對專家課件進(jìn)行全文預(yù)覽）
RETT SYNDROME 101 WHERE WE ARE
Alan Percy, MD
August 4, 2007
Rett Syndrome in USA IRSA Case Registry by State (May 2007)
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Ruthie E. Amir, Ignatia B. van den Veyver, Mimi Wan, Charles Q. Tran, Uta Francke & Huda Y. Zoghbi Nature Genet 1999;23:185
CLINICAL DIAGNOSIS
RETT SYNDROME A NEURODEVELOPMENTAL DISORDER OF YOUNG FEMALES CHARACTERIZED BY
PROFOUND COGNITIVE IMPAIRMENT
COMMUNICATION DYSFUNCTION
STEREOTYPIC MOVEMENTS
PERVASIVE GROWTH FAILURE
RETT SYNDROME WHAT DO WE KNOW?
GENETIC DISORDER MAINLY IN FEMALES
VARIABLE CLINICAL EXPRESSION
PERVASIVE GROWTH FAILURE
SIGNIFICANT LONGEVITY
CONSISTENT NEUROPATHOLOGY
>95% OF FEMALES MEETING CONSENSUS CRITERIA HAVE MECP2 MUTATIONS
RETT SYNDROME CONSENSUS CRITERIA - 2001
VARIANT EXPRESSIONS
Delayed onset or forme fruste
Preserved speech
Early-onset seizures
Congenital
Diagnosis by variant consensus criteria
Variant forms may account for 15-20%
MECP2 mutations in approximately 50%
RETT SYNDROME TEMPORAL PROFILE
APPARENTLY NORMAL DEVELOPMENT
ARREST OF DEVELOPMENTAL PROGRESS
FRANK REGRESSION WITH POOR SOCIAL CONTACT AND FINGER SKILLS
STABILIZATION: BETTER SOCIAL CONTACT AND EYE GAZE, BUT GRADUAL SLOWING OF MOTOR FUNCTIONS
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