RETT-SYNDROME-101SoutheastRSAlliance

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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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