{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T16:29:44Z","timestamp":1776184184456,"version":"3.50.1"},"reference-count":55,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Research in Autism Spectrum Disorders"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1016\/j.rasd.2008.12.004","type":"journal-article","created":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T09:10:59Z","timestamp":1235898659000},"page":"639-659","source":"Crossref","is-referenced-by-count":47,"title":["InterRett, a model for international data collection in a rare genetic disorder"],"prefix":"10.1016","volume":"3","author":[{"given":"Sandra","family":"Louise","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue","family":"Fyfe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ami","family":"Bebbington","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merc\u00e9","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Percy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria Ben","family":"Zeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi Ru","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhua","family":"Bao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick Mac","family":"Leod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.rasd.2008.12.004_bib1","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F","article-title":"Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes","volume":"47","author":"Amir","year":"2000","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nature Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib3","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.2006.045260","article-title":"Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation","volume":"44","author":"Archer","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib4","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani","year":"2008","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib5","unstructured":"Australian Bureau of Statistics. (2006). Australian and New Zealand standard classification of occupations. (From http:\/\/www.abs.gov.au\/AUSSTATS\/abs@.nsf\/mf\/1220.0)."},{"key":"10.1016\/j.rasd.2008.12.004_bib6","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1212\/01.wnl.0000304752.50773.ec","article-title":"Investigating genotype-phenotype relationships in Rett syndrome using an international data set","volume":"70","author":"Bebbington","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib7","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1093\/hmg\/9.9.1377","article-title":"MECP2 mutations account for most cases of typical forms of Rett syndrome","volume":"9","author":"Bienvenu","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib8","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.pediatrneurol.2005.10.013","article-title":"The incidence of Rett syndrome in France","volume":"34","author":"Bienvenu","year":"2006","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib9","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1177\/08830738040190070501","article-title":"Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype","volume":"19","author":"Chae","year":"2004","journal-title":"Journal of Child Neurology"},{"issue":"10","key":"10.1016\/j.rasd.2008.12.004_bib10","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/sj.ejhg.5201471","article-title":"Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome","volume":"13","author":"Charman","year":"2005","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib11","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/9.7.1119","article-title":"Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location","volume":"9","author":"Cheadle","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib12","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1136\/jmg.2003.011130","article-title":"Refining the phenotype of common mutations in Rett syndrome","volume":"41","author":"Colvin","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib13","unstructured":"Downs, J., Young, D., de Klerk, N., Bebbington, A., Baikie, G., & Leonard, H. (in press). The impact of scoliosis surgery on activities of daily living in females with Rett syndrome. Journal of Pediatric Orthopedics."},{"key":"10.1016\/j.rasd.2008.12.004_bib14","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1177\/08830738030180100301","article-title":"InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome","volume":"18","author":"Fyfe","year":"2003","journal-title":"Journal of Child Neurology"},{"issue":"Suppl. 1","key":"10.1016\/j.rasd.2008.12.004_bib15","doi-asserted-by":"crossref","first-page":"S242","DOI":"10.1016\/S0387-7604(01)00342-4","article-title":"Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype\/phenotype correlation","volume":"23","author":"Giunti","year":"2001","journal-title":"Brain & Development"},{"key":"10.1016\/j.rasd.2008.12.004_bib16","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1651-2227.1985.tb10993.x","article-title":"Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls","volume":"74","author":"Hagberg","year":"1985","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"2","key":"10.1016\/j.rasd.2008.12.004_bib17","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1055\/s-2007-979723","article-title":"Clinical delineation of Rett syndrome variants","volume":"26","author":"Hagberg","year":"1995","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.rasd.2008.12.004_bib18","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mrdd.10020","article-title":"Clinical manifestations and stages of Rett syndrome","volume":"8","author":"Hagberg","year":"2002","journal-title":"Mental Retardation and Developmental Disabilities Research Reviews"},{"issue":"5","key":"10.1016\/j.rasd.2008.12.004_bib19","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001","volume":"6","author":"Hagberg","year":"2002","journal-title":"European Journal of Paediatric Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib20","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0887-8994(94)90082-5","article-title":"Rett variants: A suggested model for inclusion criteria","volume":"11","author":"Hagberg","year":"1994","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib21","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1136\/jech.56.3.200","article-title":"Socioeconomic differences in children's use of physician services in the Nordic countries","volume":"56","author":"Halldorsson","year":"2002","journal-title":"Journal of Epidemiology and Community Health"},{"key":"10.1016\/j.rasd.2008.12.004_bib22","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1212\/WNL.56.11.1486","article-title":"MeCP2 mutations in children with and without the phenotype of Rett syndrome","volume":"56","author":"Hoffbuhr","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib23","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1055\/s-2002-32365","article-title":"Influence of mutation type and location on phenotype in 123 patients with Rett syndrome","volume":"33","author":"Huppke","year":"2002","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.rasd.2008.12.004_bib24","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/S0387-7604(03)00018-4","article-title":"The spectrum of phenotypes in females with Rett Syndrome","volume":"25","author":"Huppke","year":"2003","journal-title":"Brain & Development"},{"key":"10.1016\/j.rasd.2008.12.004_bib25","unstructured":"Internet World Stats: Usage and Population Statistics. (From http:\/\/www.internetworldstats.com\/stats.htm)."},{"issue":"11","key":"10.1016\/j.rasd.2008.12.004_bib26","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/sj.ejhg.5201479","article-title":"p. R270X MECP2 mutation and mortality in Rett syndrome","volume":"13","author":"Jian","year":"2005","journal-title":"European Journal of Human Genetics"},{"issue":"5","key":"10.1016\/j.rasd.2008.12.004_bib27","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ejpn.2007.02.008","article-title":"Seizures in Rett syndrome: an overview from a one-year calendar study","volume":"11","author":"Jian","year":"2007","journal-title":"European Journal of Paediatric Neurology"},{"issue":"Suppl. 1","key":"10.1016\/j.rasd.2008.12.004_bib28","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.braindev.2004.10.007","article-title":"Predictive value of the early clinical signs in Rett disorder","volume":"27","author":"Kerr","year":"2005","journal-title":"Brain & Development"},{"issue":"4","key":"10.1016\/j.rasd.2008.12.004_bib29","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/S0387-7604(01)00193-0","article-title":"Guidelines for reporting clinical features in cases with MECP2 mutations","volume":"23","author":"Kerr","year":"2001","journal-title":"Brain & Development"},{"key":"10.1016\/j.rasd.2008.12.004_bib30","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1542\/peds.91.2.445","article-title":"Epidemiology of Rett syndrome: A population-based registry","volume":"91","author":"Kozinetz","year":"1993","journal-title":"Pediatrics"},{"key":"10.1016\/j.rasd.2008.12.004_bib31","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/0895-4356(94)00233-G","article-title":"Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders","volume":"48","author":"Kozinetz","year":"1995","journal-title":"Journal of Clinical Epidemiology"},{"key":"10.1016\/j.rasd.2008.12.004_bib32","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jpeds.2005.10.037","article-title":"Rett syndrome in Australia: A review of the epidemiology","volume":"148","author":"Laurvick","year":"2006","journal-title":"Journal of Paediatrics"},{"issue":"Suppl 1","key":"10.1016\/j.rasd.2008.12.004_bib33","first-page":"8","article-title":"The prevalence and incidence of Rett syndrome in Australia","volume":"6","author":"Leonard","year":"1997","journal-title":"European Journal of Child & Adolescent Psychiatry"},{"key":"10.1016\/j.rasd.2008.12.004_bib34","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1136\/jmg.40.5.e52","article-title":"Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations?","volume":"40","author":"Leonard","year":"2003","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.rasd.2008.12.004_bib35","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1080\/09638280150504180","article-title":"Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: A snapshot across the world from the parental perspective","volume":"23","author":"Leonard","year":"2001","journal-title":"Disability & Rehabilitation"},{"issue":"Suppl 1","key":"10.1016\/j.rasd.2008.12.004_bib36","doi-asserted-by":"crossref","first-page":"S59","DOI":"10.1016\/j.braindev.2005.03.023","article-title":"Genotype and early development in Rett syndrome: The value of international data.","volume":"27","author":"Leonard","year":"2005","journal-title":"Brain & Development"},{"issue":"1","key":"10.1016\/j.rasd.2008.12.004_bib37","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1007\/s10038-006-0079-0","article-title":"MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome","volume":"52","author":"Li","year":"2007","journal-title":"Journal of Human Genetics"},{"issue":"Suppl. 1","key":"10.1016\/j.rasd.2008.12.004_bib38","doi-asserted-by":"crossref","first-page":"S251","DOI":"10.1016\/S0387-7604(01)00374-6","article-title":"Rett syndrome in Spain: mutation analysis and clinical correlations.","volume":"23","author":"Monros","year":"2001","journal-title":"Brain & Development"},{"key":"10.1016\/j.rasd.2008.12.004_bib39","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1080\/03014460500075068","article-title":"InterRett\u2014The application of bioinformatics to International Rett syndrome research","volume":"32","author":"Moore","year":"2005","journal-title":"Annals of Human Biology"},{"issue":"22 Pt 2","key":"10.1016\/j.rasd.2008.12.004_bib40","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1212\/01.wnl.0000304086.75913.b2","article-title":"The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome","volume":"70","author":"Nectoux","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib41","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","article-title":"Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome","volume":"70","author":"Neul","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib42","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/humu.1162","article-title":"DHPLC analysis of the MECP2 gene in Italian Rett patients","volume":"18","author":"Nicolao","year":"2001","journal-title":"Human Mutation"},{"key":"10.1016\/j.rasd.2008.12.004_bib43","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1177\/0883073807308715","article-title":"Rett syndrome: North American database","volume":"22","author":"Percy","year":"2007","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib44","article-title":"Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)","author":"Renieri","year":"2008","journal-title":"Brain & Development"},{"key":"10.1016\/j.rasd.2008.12.004_bib45","unstructured":"RettBASE: IRSA MECP2 Variation Database. (From http:\/\/mecp2.chw.edu.au\/)."},{"issue":"4","key":"10.1016\/j.rasd.2008.12.004_bib46","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/humu.20453","article-title":"Italian Rett database and biobank","volume":"28","author":"Sampieri","year":"2007","journal-title":"Human Mutation"},{"issue":"23","key":"10.1016\/j.rasd.2008.12.004_bib47","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1002\/ajmg.a.32002","article-title":"MECP2 deletions and genotype-phenotype correlation in Rett syndrome.","volume":"143A","author":"Scala","year":"2007","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1016\/j.rasd.2008.12.004_bib48","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ajmg.a.20571","article-title":"Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome","volume":"126A","author":"Schanen","year":"2004","journal-title":"American Journal of Medical Genetics A"},{"issue":"3","key":"10.1016\/j.rasd.2008.12.004_bib49","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.a.20321","article-title":"Rett syndrome in adolescent and adult females: clinical and molecular genetic findings","volume":"122A","author":"Smeets","year":"2003","journal-title":"Americn Journal of Medical Genetics A"},{"key":"10.1016\/j.rasd.2008.12.004_bib50","unstructured":"StataCorp. (2005). Stata Statistical Software: Release 9: TX: StataCorp LP."},{"key":"10.1016\/j.rasd.2008.12.004_bib51","unstructured":"The Central Intelligence Agency. (2008). The World Factbook. (From https:\/\/www.cia.gov\/library\/publications\/the-world-factbook\/index.html.)"},{"key":"10.1016\/j.rasd.2008.12.004_bib52","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ana.410230432","article-title":"Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group","volume":"23","author":"Trevathan","year":"1988","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.rasd.2008.12.004_bib53","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1007\/s001090000155","article-title":"Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females","volume":"78","author":"Vacca","year":"2001","journal-title":"Journal of Molecular Medicine"},{"key":"10.1016\/j.rasd.2008.12.004_bib54","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/humu.9069","article-title":"MECP2 mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome","volume":"20","author":"Yaron","year":"2002","journal-title":"Human Mutation"},{"key":"10.1016\/j.rasd.2008.12.004_bib55","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1007\/s10038-007-0121-x","article-title":"Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: Novel mutations and polymorphisms","volume":"52","author":"Zahorakova","year":"2007","journal-title":"Journal of Human Genetics"}],"container-title":["Research in Autism Spectrum Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1750946708001530?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1750946708001530?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T06:15:02Z","timestamp":1684908902000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1750946708001530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":55,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S1750946708001530"],"URL":"https:\/\/doi.org\/10.1016\/j.rasd.2008.12.004","relation":{},"ISSN":["1750-9467"],"issn-type":[{"value":"1750-9467","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]}}}