Rett Syndrome

Overview: Rare neurodevelopmental disorder. Affects girls almost exclusively; boys lack the extra X chromosome and are thus more impacted, if they survive.
  • RettSyndrome.org summary
  • MedBullets
Screening: Developmental milestone achievement regression or delays noted around 5-36 months.  Watch for any loss of skills (speech, motor function), initiation of hand wringing, head circumference. Seizure disorders are common in these children, as are contractures, CV complications (QT interval), and ataxia. It is important to note that even when two children who have the exact same mutation, they can present very differently and be affected in very different ways. Due to its original presentation of speech and other developmental delays, many providers often believe the child has autism.

Articles

  • Chahrour & Zoghbi (2007). The Story of Rett Syndrome: From Clinic to Neurobiology. Neuron, 56,3, 422-437.
  • Wan et al (1999). Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots. AJHG, 65, 6, 1520–1529.
"Closing the gap" by Judy Lariviere (Dec. 2014)
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Resources

  • Current drug clinical trials and other non-drug trials
  • Rettsyndrome.org MECP2 Variation Database (RettBase): mutation and polymorphism data from the published literature pertaining to Rett syndrome and related clinical disorders
  • InterRett: first-ever project collecting data on a worldwide basis about Rett syndrome
  • Natural History Study (NHS): gathers data includes information about nutrition, development, and height & weight measurements

Organizations

Research Groups
  • Easter Seals
  • InterRett
  • IRSA Rett Phenotype Database, Australia
  • National Institute of Child Health and Human Development (NICHD)
  • National Institute of Mental Health (NIMH)
  • Office of Rare Diseases
  • Rett Syndrome Research Trust
National
  • International Rett Syndrome Foundation
  • Rettland Foundation
  • Rett Syndrome Research Trust
  • Girl Power to Cure
Regional
  • Minnesota Rett Syndrome Research Association
  • Northwest Rett Syndrome Foundation
  • New Jersey Rett Syndrome Association (NJRSA)
  • Ontario Rett Syndrome Association
  • Rett Syndrome Association of Illinois (RSAI)
  • Rett Syndrome Association of Massachusetts, Inc. (RSAM)
  • Rocky Mountain Rett Association (RMRA)
Family Foundations
  • Sarah Varon Foundation for Rett Syndrome Research
  • Eva Fini Fund — Rett Syndrome Research
  • Claire's Crusade
  • Kate Foundation for Rett Syndrome Research
Clinics
  • Katie's Clinic for Rett Syndrome (UCSF Benioff Children's Hospital Oakland)
  • Civitan International Research Center (UAB)
  • USC UCEDD Rett Syndrome Clinic (Children's Hospital Los Angeles)
  • Rady Children's Hospital – San Diego
  • Rett Syndrome Clinic (Children’s Hospital Colorado)
  • Emory University Hospital (Atlanta, Georgia)
  • Kennedy Krieger Institute (John’s Hopkins School of Medicine)
  • Rett Syndrome Program (Children's Hospital Boston/Harvard Medical School)
  • Rett Syndrome Services (Gillette Children’s Specialty Healthcare, St. Paul MN)
  • Rett Spectrum Clinic (Washington University School of Medicine, Saint Louis Children’s Hospital)
  • Tri-State Rett Syndrome Center (Albert Einstein College of Medicine)
  • Cincinnati Children’s Hospital Medical Center
  • Oregon Health and Sciences University
  • Children's Hospital of Philadelphia
  • Greenwood Genetic Center (Greenwood, SC)
  • Rett Syndrome and Related Disorders research program
    (Vanderbilt University School of Medicine)
  • The Blue Bird Circle Rett Center (Baylor College of Medicine)
  • The Children’s Hospital at Westmead (Australia)
  • Complex Care Rett Syndrome Pathway (Holland Bloorview Kids Rehabilitation Hospital, Canada)
  • Thames Valley Children's Centre (South Western Ontario Rett Syndrome Clinic, Canada)
  • CHEO Rett Syndrome Clinic (Children’s Hospital of Eastern Ontario)