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SUMMARY

Background
Recognition of Rett syndrome
Management of Rett Syndrome

RETT SYNDROME

Described in 1966 by Andreas Rett
First described in English by Hagberg in 1983
1999 – mutations in MECP2 gene reported
Methyl CpG binding protein 2
CDKL5 cyclin-dependent kinase like 5

RETT PHENOTYPE

Rett syndrome
Normal early development*
Withdrawn autistic behaviour; loss of language
Loss of hand-skills; stereotypic hand movements
Deceleration of head growth
Seizure disorder
Progressive course with well described stages
Caution re prognosis as broader phenotype recognised

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