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Genetically determined encephalopathy: Rett syndrome

Nadia Bahi-Buisson1

  • 1Department of Pediatric Neurology, Université Paris Descartes; Imaging Institute; INSERM U781, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed

Insights

Rett syndrome (RTT) is a severe neurodevelopmental disorder in females, often caused by MECP2 gene mutations. Management focuses on individualized, multidisciplinary care to optimize abilities and address key health issues.

Area of Science:

  • Genetics
  • Neuroscience
  • Pediatrics

Background:

  • Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting approximately 1 in 10,000 female births.
  • Characterized by normal early development followed by loss of motor skills, social interaction, and development of stereotyped hand movements.
  • Includes classical and atypical variants like congenital, early onset seizure, preserved speech, and "forme fruste."

Purpose of the Study:

  • To provide an overview of Rett syndrome, including its genetic basis, clinical presentation, and management strategies.
  • To highlight the genetic mutations associated with different RTT variants.
  • To emphasize the importance of a multidisciplinary approach in managing RTT patients.

Main Methods:

  • Review of existing literature on Rett syndrome.
  • Identification of genetic mutations (MECP2, CDKL5, FoxG1) linked to RTT variants.
  • Description of current symptomatic and individualized management approaches.

Main Results:

  • Mutations in the MECP2 gene are found in most classical RTT cases.
  • CDKL5 and FoxG1 gene mutations are identified in early onset seizure and congenital RTT variants, respectively.
  • Management is symptomatic and individualized, focusing on optimizing patient abilities.

Conclusions:

  • RTT is a complex disorder with variable presentation and genetic underpinnings.
  • A dynamic, multidisciplinary approach is crucial for effective management.
  • Addressing specific issues like seizures, scoliosis, osteoporosis, spasticity, and communication is vital for improving quality of life.

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