Mortality
Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy, unless they have an extra X chromosome (often described as Klinefelter syndrome), or have somatic mosaicism.
Females can live up to 40 years or more. Laboratory studies on Rett syndrome may show abnormalities such as:
- EEG abnormalities from 2 years of age
- atypical brain glycolipids
- elevated CSF levels of beta-endorphins and glutamate
- reduction of substance P
- decreased levels of CSF nerve growth factors
A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of:
- spontaneous brainstem dysfunction
- cardiac arrest
- seizures
- cardiac conduction abnormalities - abnormally prolonged QT interval on ECG
- gastric perforation
Read more about this topic: Rett Syndrome
Famous quotes containing the word mortality:
“Antiquity breached mortality with myths.
Narcissus is vocabulary. Hermes decorates
A cornice on the Third National Bank.”
—Allen Tate (1899–1979)
“The mortality of all inanimate things is terrible to me, but that of books most of all.”
—William Dean Howells (1837–1920)
“When I turned into a parent, I experienced a real and total personality change that slowly shifted back to the “normal” me, yet has not completely vanished. I believe the two levels are now superimposed, with an additional sprinkling of mortality intimations.”
—Sonia Taitz (20th century)