Rett syndrome in Australia: a review of the epidemiology

The Journal of Pediatrics
Crystal L LaurvickHelen Leonard

Abstract

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT). The Australian Rett Syndrome Database is a longitudinal data collection that included 276 verified female cases at the end of 2004. Survival was calculated using the Kaplan-Meier product limit method, and cumulative incidence was determined using the complement of the Kaplan-Meier method. Most cases (88.4%) have had MECP2 mutation testing, with positive results in 73%. The prevalence of RTT was .88 per 10,000 females in 5- to 18-year-olds, and the cumulative incidence was 1.09 per 10,000 females by 12 years of age. The cumulative incidence by the age of 5 years increased from .39 per 10,000 in the 1980 to 1984 cohort to .76 per 10,000 in birth cohorts beyond 1984. Survival was 77.8% at 25 years, compared with 99.96% survival in the Australian female population. Pneumonia (10/25) was the most common cause of death. The availability of genetic testing has contributed to the changing pattern and timing of RTT diagnosis in Australia. Girls with RTT have worse survival compared with the general female population. When more data are available, it will be possible to evaluate the relationship between survival and specific ME...Continue Reading

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Citations

Dec 21, 2006·Journal of Autism and Developmental Disorders·S FyfeH Leonard
Oct 6, 2010·Journal of Autism and Developmental Disorders·Linda DoddsSusan Bryson
Apr 5, 2012·European Journal of Human Genetics : EJHG·Ami BebbingtonHelen Leonard
Oct 2, 2013·Nature Reviews. Urology·Alexander von Gontard
May 19, 2011·Pediatric Research·Stephanie FehrHelen Leonard
Aug 23, 2007·European Journal of Human Genetics : EJHG·Simon A HardwickJohn Christodoulou
Mar 7, 2013·Human Molecular Genetics·Meagan R PitcherJeffrey L Neul
Jun 4, 2011·Journal of Pediatric Gastroenterology and Nutrition·Kathleen J MotilDaniel G Glaze
Mar 14, 2007·Journal of Medical Genetics·Laurent Villard
May 26, 2011·BMC Neuroscience·Nicolas PanayotisJean-Christophe Roux
Dec 24, 2010·Pediatric Research·Amanda L JeffersonHelen Leonard
Jan 18, 2011·Experimental Biology and Medicine·Gaston CalfaLucas Pozzo-Miller
Apr 20, 2010·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Rose WhiteJohn Christodoulou
Jun 3, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Rodney C Samaco, Jeffrey L Neul
Sep 2, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Stephanie C GantzJohn T Williams
Jul 3, 2008·Pediatrics in Review·Barbara MarshallBetina Franceschini
Jan 9, 2014·Journal of Medical Genetics·Vishnu Anand CuddapahMichelle L Olsen
May 16, 2013·Journal of Intellectual & Developmental Disability·Paula DykeHelen Leonard
May 29, 2012·Journal of Developmental and Physical Disabilities·Sanne GiesbersLeopold M G Curfs
Jun 20, 2014·Orphanet Journal of Rare Diseases·Alison AndersonHelen Leonard
Nov 17, 2009·Journal of Medical Genetics·A BebbingtonH Leonard
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Sep 21, 2012·Disability and Rehabilitation·Faye LimHelen Leonard
Jul 26, 2013·Disability and Rehabilitation·Jaimi AndrewsJenny Downs
Feb 3, 2016·Trends in Neurosciences·David M KatzDaniel C Tarquinio
Dec 29, 2012·Brain & Development·Olivia KnightHelen Leonard
May 9, 2012·Gene·Nourhene Fendri-KriaaFaiza Fakhfakh
Feb 23, 2012·Pediatric Neurology·Sarenur GökbenGül Serdaroğlu
May 12, 2015·Free Radical Biology & Medicine·Stefania FilosaJoussef Hajek
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May 18, 2011·Biochemical and Biophysical Research Communications·Nourhene Fendri-KriaaUNKNOWN Tunisian network on mental retardation study
Feb 15, 2011·Autonomic Neuroscience : Basic & Clinical·Daniel T LioyJohn M Bissonnette
Oct 19, 2010·Neurobiology of Disease·Nicolas PanayotisJean-Christophe Roux
Aug 18, 2010·Behavioural Brain Research·Michel PratteJean-Christophe Roux
May 19, 2010·Child and Adolescent Psychiatric Clinics of North America·Matthew S Siegel, Wendy E Smith
Sep 24, 2009·The Journal of Pediatrics·Russell S KirbyAlan K Percy
Jun 16, 2009·Respiratory Physiology & Neurobiology·Nicolas VoituronGérard Hilaire
Feb 13, 2010·Journal of Neurodevelopmental Disorders·Kimberly AugensteinAlan K Percy
Jul 1, 2009·Research in Autism Spectrum Disorders·Sandra LouiseHelen Leonard
Nov 6, 2007·Seminars in Pediatric Neurology·Kerry Baldwin Jedele
Oct 2, 2007·Respiratory Physiology & Neurobiology·Sébastien ZanellaGérard Hilaire

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