Question

A three-year-old girl has a good appetite but is underweight, often vomits, and does not like to take naps during the afternoon. Two years ago, there was no apparent reason for her to be diagnosed with Rett syndrome half a year ago. Magnetic resonance imaging (MRI) showed abnormalities in the brain. Currently, she needs to take two nutritional supplements daily to maintain brain function. The parents are inquiring about the child’s possible future development and how they can provide assistance.

Answer

Rett syndrome is a rare disease that primarily affects girls, characterized by the loss of hand movement and changes in breathing patterns following early normal development. Patients may lose some or all of their language abilities, experience slow head growth, and halt in social and play development, although social interest may persist. As they grow older, coordination and movement disorders may arise. It almost inevitably leads to severe intellectual developmental delays.