Rett Syndrome: Things you should know (Questions and Answers)

The book introduces Rett syndrome as a rare neurodevelopmental disorder linked to mutations in the MECP2 gene on the X chromosome. It describes how the condition progresses through four stages, beginning with early onset, followed by rapid regression, a plateau phase, and late motor decline.

Key topics include microcephaly, apraxia, atrophy, spasticity, gait problems, hyperventilation, apnea, bruxism, and slow growth development. The text also covers complications such as epilepsy, scoliosis, pneumonia, cardiac problems, and regression in both motor and cognitive skills.

Diagnosis methods, including genetic testing, are explained, along with treatment strategies such as speech therapy, occupational therapy, physical therapy, and supportive interventions for seizures and scoliosis.

This book will interest students, health science learners, and those studying genetics and neurology who want to understand Rett syndrome and its impact on development.