What is Rett Syndrome?
-
Rett Syndrome is the most physically disabling of the autism spectrum disorders.
-
It strikes at random in early childhood, affecting little girls almost exclusively.
-
Many girls live into adulthood, requiring total, 24-hour-a-day care.
-
There is no treatment beyond supportive, and often ineffective, measures such as feeding tubes, bracing, orthopedic and GI surgeries, and medications for anxiety and seizures.
-
First recognized only 25 years ago, the prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntington’s and ALS but is vastly underfunded in comparison to those disorders
Symptoms include
-
Loss of speech and motor control
-
Functional hand use replaced by compulsive hand movements
-
Disordered breathing
-
Severe digestive problems
-
Orthopedic abnormalities including scoliosis and fragile bones
-
Disrupted sleep patterns
-
Extreme anxiety
-
Seizures
-
Impaired cardiac and circulatory function
-
Parkinsonian tremor
The costs, both financial and in terms of human suffering,
are enormous.
Banner image - Sensory neurons in the mouse nodose ganglia (MeCP2 stains green). Photography courtesy of David Katz/Journal of Neuroscience.
