{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:20:11Z","timestamp":1762521611703},"reference-count":70,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,7,28]],"date-time":"2013-07-28T00:00:00Z","timestamp":1374969600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dev Phys Disabil"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1007\/s10882-013-9351-3","type":"journal-article","created":{"date-parts":[[2013,7,27]],"date-time":"2013-07-27T08:18:24Z","timestamp":1374913104000},"page":"171-182","source":"Crossref","is-referenced-by-count":13,"title":["Monozygotic Twins with Rett Syndrome: Phenotyping the First Two Years of Life"],"prefix":"10.1007","volume":"26","author":[{"given":"Christa","family":"Einspieler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter B.","family":"Marschik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanderley","family":"Domingues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor B.","family":"Talisa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin D.","family":"Bartl-Pokorny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Wolin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff","family":"Sigafoos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,7,28]]},"reference":[{"key":"9351_CR1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","volume":"23","author":"RE Amir","year":"1999","unstructured":"Amir, R. E., van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185\u2013188.","journal-title":"Nature Genetics"},{"key":"9351_CR2","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ajmg.1320390411","volume":"39","author":"I Bruck","year":"1991","unstructured":"Bruck, I., Philippart, M., Giraldi, D., & Antoniuk, S. (1991). Difference in early development of presumed monozygotic twins with Rett syndrome. American Journal of Medical Genetics, 39, 415\u2013417.","journal-title":"American Journal of Medical Genetics"},{"key":"9351_CR3","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1016\/j.braindev.2005.03.013","volume":"27","author":"B Burford","year":"2005","unstructured":"Burford, B. (2005). Perturbations in the development of infants with Rett disorder and the implications for early diagnosis. Brain & Development, 27, S3\u2013S7.","journal-title":"Brain & Development"},{"key":"9351_CR4","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1046\/j.1365-2788.2003.00476.x","volume":"47","author":"B Burford","year":"2003","unstructured":"Burford, B., Kerr, A. M., & MacLeod, H. A. (2003). Nurse recognition of early deviation in development in home videos of infants with Rett disorder. Journal of Intellectual Disability Research, 47, 588\u2013596.","journal-title":"Journal of Intellectual Disability Research"},{"key":"9351_CR5","doi-asserted-by":"crossref","first-page":"436","DOI":"10.3174\/ajnr.A0857","volume":"29","author":"JC Carter","year":"2008","unstructured":"Carter, J. C., Lanham, D. C., Pham, D., Bibat, G., Naidu, S., & Kaufmann, W. E. (2008). Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. American Journal of Neuroradiology, 29, 436\u2013441.","journal-title":"American Journal of Neuroradiology"},{"key":"9351_CR6","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/9.7.1119","volume":"9","author":"JP Cheadle","year":"2000","unstructured":"Cheadle, J. P., Gill, H., Fleming, N., Maynard, J., Kerr, A., Leonard, H., et al. (2000). Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics, 9, 1119\u20131129.","journal-title":"Human Molecular Genetics"},{"key":"9351_CR7","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0387-7604(87)80067-0","volume":"9","author":"M Coleman","year":"1987","unstructured":"Coleman, M., Naidu, S., Murphy, M., Pines, M., & Bias, W. (1987). A set of monozygotic twins with Rett syndrome. Brain & Development, 9, 475\u2013478.","journal-title":"Brain & Development"},{"key":"9351_CR8","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/adc.88.1.38","volume":"88","author":"L Colvin","year":"2003","unstructured":"Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., et al. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Diseases in Childhood, 88, 38\u201343.","journal-title":"Archives of Diseases in Childhood"},{"key":"9351_CR9","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/ajmg.1320250540","volume":"1","author":"DE Comings","year":"1986","unstructured":"Comings, D. E. (1986). The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. American Journal of Medical Genetics Supplement, 1, 383\u2013388.","journal-title":"American Journal of Medical Genetics Supplement"},{"key":"9351_CR10","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1177\/1362361300004003003","volume":"4","author":"A Dahlgren Sandberg","year":"2000","unstructured":"Dahlgren Sandberg, A., Ehlers, S., Hagberg, B., & Gillberg, C. (2000). The Rett syndrome complex: communicative functions in relation to developmental level and autistic features. Autism, 4, 249\u2013267.","journal-title":"Autism"},{"key":"9351_CR11","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.earlhumdev.2010.03.004","volume":"86","author":"NK Vries De","year":"2010","unstructured":"De Vries, N. K., & Bos, A. F. (2010). The quality of general movements in the first ten days of life in preterm infants. Early Human Development, 86, 225\u2013229.","journal-title":"Early Human Development"},{"key":"9351_CR12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mrdd.20051","volume":"11","author":"C Einspieler","year":"2005","unstructured":"Einspieler, C., & Prechtl, H. F. (2005). Prechtl\u2019s assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system. Mental Retardation and Developmental Disabilities Research Reviews, 11, 61\u201367.","journal-title":"Mental Retardation and Developmental Disabilities Research Reviews"},{"key":"9351_CR13","volume-title":"Prechtl\u2019s method on the qualitative assessment of general movements in preterm, term and young infants","author":"C Einspieler","year":"2004","unstructured":"Einspieler, C., Prechtl, H. F. R., Bos, A. F., Ferrari, F., & Cioni, G. (2004). Prechtl\u2019s method on the qualitative assessment of general movements in preterm, term and young infants. London: Mac Keith Press. distributed by Cambridge University Press."},{"key":"9351_CR14","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1203\/01.PDR.0000155945.94249.0A","volume":"57","author":"C Einspieler","year":"2005","unstructured":"Einspieler, C., Kerr, A. M., & Prechtl, H. F. R. (2005a). Is the early development of girls with Rett disorder really normal? Pediatric Research, 57, 696\u2013700.","journal-title":"Pediatric Research"},{"key":"9351_CR15","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1016\/j.braindev.2005.03.014","volume":"27","author":"C Einspieler","year":"2005","unstructured":"Einspieler, C., Kerr, A. M., & Prechtl, H. F. R. (2005b). Abnormal general movements in girls with Rett disorder: the first four months of life. Brain & Development, 27, S8\u2013S13.","journal-title":"Brain & Development"},{"key":"9351_CR16","first-page":"148","volume":"216","author":"C Einspieler","year":"2008","unstructured":"Einspieler, C., Marschik, P. B., & Prechtl, H. F. R. (2008). Human motor behaviour: prenatal origin and early postnatal development. Journal of Psychology, 216, 148\u2013154.","journal-title":"Journal of Psychology"},{"key":"9351_CR17","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3109\/17518423.2011.654281","volume":"15","author":"C Einspieler","year":"2012","unstructured":"Einspieler, C., Hirota, H., Yuge, M., Dejima, S., & Marschik, P. B. (2012). Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. Developmental Neurorehabilitation, 15, 313\u2013316.","journal-title":"Developmental Neurorehabilitation"},{"key":"9351_CR18","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1111\/j.1399-0004.2006.00691.x","volume":"70","author":"JC Evans","year":"2006","unstructured":"Evans, J. C., Archer, H. L., Whatley, S. D., & Clarke, A. (2006). Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clinical Genetics, 70, 336\u2013338.","journal-title":"Clinical Genetics"},{"key":"9351_CR19","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.earlhumdev.2008.12.001","volume":"85","author":"T Fj\u00f8rtoft","year":"2009","unstructured":"Fj\u00f8rtoft, T., Einspieler, C., Adde, L., & Strand, L. I. (2009). Inter-observer reliability of the assessment of motor repertoire\u20143 to 5 months based on video recordings of infants. Early Human Development, 85, 297\u2013302.","journal-title":"Early Human Development"},{"key":"9351_CR20","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1037\/h0031619","volume":"76","author":"JL Fleiss","year":"1971","unstructured":"Fleiss, J. L. (1971). Measuring nominal scale agreement among many raters. Psychological Bulletin, 76, 378\u2013382.","journal-title":"Psychological Bulletin"},{"key":"9351_CR21","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF02206862","volume":"20","author":"CA Haenggeli","year":"1990","unstructured":"Haenggeli, C. A., Moura-Serra, J., & DeLozier-Blanchet, C. D. (1990). Two sisters with Rett syndrome. Journal of Autism and Developmental Disorders, 20, 129\u2013138.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"9351_CR22","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","volume":"14","author":"B Hagberg","year":"1983","unstructured":"Hagberg, B., Aicardi, J., Dias, K., & Ramos, O. (1983). A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett\u2019s syndrome: report of 35 cases. Annals of Neurology, 14, 471\u2013479.","journal-title":"Annals of Neurology"},{"key":"9351_CR23","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S0387-7604(85)80037-1","volume":"7","author":"F Hanefeld","year":"1985","unstructured":"Hanefeld, F. (1985). The clinical pattern of the Rett syndrome. Brain & Development, 7, 320\u2013325.","journal-title":"Brain & Development"},{"key":"9351_CR24","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/S0387-7604(03)00018-4","volume":"25","author":"P Huppke","year":"2003","unstructured":"Huppke, P., Held, M., Laccone, F., & Hanefeld, F. (2003). The spectrum of phenotypes in females with Rett syndrome. Brain & Development, 25, 346\u2013351.","journal-title":"Brain & Development"},{"key":"9351_CR25","doi-asserted-by":"crossref","first-page":"S161","DOI":"10.1016\/S0387-7604(01)00344-8","volume":"23","author":"T Ishii","year":"2001","unstructured":"Ishii, T., Makita, Y., Ogawa, A., Amamiya, S., Yamamoto, M., Miyamoto, A., et al. (2001). The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain & Development, 23, S161\u2013S164.","journal-title":"Brain & Development"},{"key":"9351_CR26","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1055\/s-2007-979725","volume":"26","author":"AM Kerr","year":"1995","unstructured":"Kerr, A. M. (1995). Early clinical signs in the Rett disorder. Neuropediatrics, 26, 67\u201371.","journal-title":"Neuropediatrics"},{"key":"9351_CR27","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0387-7604(87)80070-0","volume":"9","author":"AM Kerr","year":"1987","unstructured":"Kerr, A. M., Montague, J., & Stephenson, J. B. (1987). The hands, and the mind, pre- and post-regression, in Rett syndrome. Brain & Development, 9, 487\u2013490.","journal-title":"Brain & Development"},{"key":"9351_CR28","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/ajmg.1320250538","volume":"1","author":"W Killian","year":"1986","unstructured":"Killian, W. (1986). On the genetics of Rett syndrome: analysis of family and pedigree data. American Journal of Medical Genetics. Supplement, 1, 369\u2013376.","journal-title":"American Journal of Medical Genetics. Supplement"},{"key":"9351_CR29","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s004390050698","volume":"102","author":"AC Krepischi","year":"1998","unstructured":"Krepischi, A. C., Kok, F., & Otto, P. G. (1998). X chromosome-inactivation patterns in patients with Rett syndrome. Human Genetics, 102, 319\u2013321.","journal-title":"Human Genetics"},{"key":"9351_CR30","doi-asserted-by":"crossref","unstructured":"Lee, J. Y. L., Leonard, H., Piek, J. P., & Down, J. (2013). Early development and regression in Rett syndrome. Clinical Genetics. doi: 10.1111\/cge.12110 .","DOI":"10.1111\/cge.12110"},{"key":"9351_CR31","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/j.1469-8749.1998.tb15371.x","volume":"40","author":"H Leonard","year":"1998","unstructured":"Leonard, H., & Bower, C. (1998). Is the girl with Rett syndrome normal at birth? Developmental Medicine and Child Neurology, 40, 115\u2013121.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"9351_CR32","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<228::AID-AJMG7>3.0.CO;2-K","volume":"82","author":"H Leonard","year":"1999","unstructured":"Leonard, H., Fyfe, S., Dye, D., & Leonard, S. (1999). Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls? American Journal of Medical Genetics, 82, 228\u2013234.","journal-title":"American Journal of Medical Genetics"},{"key":"9351_CR33","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1055\/s-2006-924613","volume":"37","author":"M Lundvall","year":"2006","unstructured":"Lundvall, M., Samuelsson, L., & Kyllerman, M. (2006). Male Rett phenotypes in T158M and R294X MeCP2-mutations. Neuropediatrics, 37, 296\u2013301.","journal-title":"Neuropediatrics"},{"key":"9351_CR34","doi-asserted-by":"crossref","first-page":"355","DOI":"10.3109\/17518423.2011.604355","volume":"14","author":"PB Marschik","year":"2011","unstructured":"Marschik, P. B., & Einspieler, C. (2011). Methodological note: video analysis of the early development of Rett syndrome\u2014one method for many disciplines. Developmental Neurorehabilitation, 14, 355\u2013357.","journal-title":"Developmental Neurorehabilitation"},{"key":"9351_CR35","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/s10803-009-0703-x","volume":"39","author":"PB Marschik","year":"2009","unstructured":"Marschik, P. B., Einspieler, C., Oberle, A., Laccone, F., & Prechtl, H. F. R. (2009). Case report: retracing atypical development: a preserved speech variant of Rett syndrome. Journal of Autism and Developmental Disorders, 39, 958\u2013961.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"9351_CR36","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1055\/s-0030-1254118","volume":"42","author":"PB Marschik","year":"2011","unstructured":"Marschik, P. B., Lanator, I., Freilinger, M., Prechtl, H. F. R., & Einspieler, C. (2011). Early signs and later neurophysiological correlates of Rett syndrome. Klinische Neurophysiologie, 42, 22\u201326.","journal-title":"Klinische Neurophysiologie"},{"key":"9351_CR37","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ridd.2011.10.007","volume":"33","author":"PB Marschik","year":"2012","unstructured":"Marschik, P. B., Einspieler, C., & Sigafoos, J. (2012a). Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception. Research in Developmental Disabilities, 33, 461\u2013466.","journal-title":"Research in Developmental Disabilities"},{"key":"9351_CR38","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1016\/j.ridd.2012.04.012","volume":"33","author":"PB Marschik","year":"2012","unstructured":"Marschik, P. B., Kaufmann, W. E., Einspieler, C., Bartl-Pokorny, K. D., Wolin, T., Pini, G., et al. (2012b). Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Research in Developmental Disabilities, 33, 1749\u20131756.","journal-title":"Research in Developmental Disabilities"},{"key":"9351_CR39","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1469-8749.2012.04123.x","volume":"54","author":"PB Marschik","year":"2012","unstructured":"Marschik, P. B., Pini, G., Bartl-Pokorny, K. D., Duckworth, M., Gugatschka, M., Vollmann, R., et al. (2012c). Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. Developmental Medicine and Child Neurology, 54, 451\u2013456.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"9351_CR40","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1016\/j.ridd.2012.05.014","volume":"33","author":"PB Marschik","year":"2012","unstructured":"Marschik, P. B., Sigafoos, J., Kaufmann, W. E., Wolin, T., Talisa, V. B., Bartl-Pokorny, K. D., et al. (2012d). Peculiarities in the gestural repertoire: an early maker for Rett syndrome? Research in Developmental Disabilities, 33, 1715\u20131721.","journal-title":"Research in Developmental Disabilities"},{"key":"9351_CR41","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1016\/j.ridd.2013.01.014","volume":"34","author":"PB Marschik","year":"2013","unstructured":"Marschik, P. B., Kaufmann, W. E., Sigafoos, J., Wolin, T., Zhang, D., Bartl-Pokorny, K. D., et al. (2013a). Changing the perspective on early development of Rett syndrome. Research in Developmental Disabilities, 34, 1236\u20131239.","journal-title":"Research in Developmental Disabilities"},{"key":"9351_CR42","author":"PB Marschik","year":"2013","unstructured":"Marschik, P. B., Vollmann, R., Bartl-Pokorny, K. D., Green, V., van der Meer, L., Wolin, T., et al. (2013b). Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome. Developmental Neurorehabilitation. doi: 10.3109\/17518423.2013.783139 .","journal-title":"Developmental Neurorehabilitation"},{"key":"9351_CR43","first-page":"647","volume":"56","author":"BR Migeon","year":"1995","unstructured":"Migeon, B. R., Dunn, M. A., Thomas, G., Schmeckpeper, B. J., & Naidu, S. (1995). Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. American Journal of Human Genetics, 56, 647\u2013653.","journal-title":"American Journal of Human Genetics"},{"key":"9351_CR44","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ajmg.b.31222","volume":"156B","author":"K Mittal","year":"2011","unstructured":"Mittal, K., Gupta, N., Kabra, M., Juyal, R., & Thelma, B. K. (2011a). Distinct de novo deletions in a brother-sister pair with RTT: a case report. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 156B, 859\u2013863.","journal-title":"American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics"},{"key":"9351_CR45","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/1471-2350-12-113","volume":"12","author":"K Mittal","year":"2011","unstructured":"Mittal, K., Kabra, M., Juyal, R., & Thelma, B. K. (2011b). De novo deletion in MECP2 in a monozygotic twin pair: a case report. BMC Medical Genetics, 12, 113.","journal-title":"BMC Medical Genetics"},{"key":"9351_CR46","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/S0387-7604(97)00052-1","volume":"19","author":"A Miyamoto","year":"1997","unstructured":"Miyamoto, A., Yamamoto, M., Takahashi, S., & Oki, J. (1997). Classical Rett syndrome in sisters: variability of clinical expression. Brain & Development, 19, 492\u2013494.","journal-title":"Brain & Development"},{"key":"9351_CR47","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1159\/000110870","volume":"93","author":"A Mutlu","year":"2008","unstructured":"Mutlu, A., Einspieler, C., Marschik, P. B., & Livangelioglu, A. (2008). Intra-individual consistency in the quality of neonatal general movements. Neonatology, 93, 213\u2013216.","journal-title":"Neonatology"},{"key":"9351_CR48","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.earlhumdev.2005.07.010","volume":"82","author":"Y Nakajima","year":"2006","unstructured":"Nakajima, Y., Einspieler, C., Marschik, P. B., Bos, A. F., & Prechtl, H. F. R. (2006). Does a detailed assessment of poor repertoire general movements help to identify those infants who will develop normally? Early Human Development, 82, 53\u201359.","journal-title":"Early Human Development"},{"key":"9351_CR49","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, E., Bahi-Buisson, N., et al. (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944\u2013950.","journal-title":"Annals of Neurology"},{"key":"9351_CR50","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/S0387-7604(12)80167-7","volume":"12","author":"Y Nomura","year":"1990","unstructured":"Nomura, Y., & Segawa, M. (1990). Clinical features of the early stage of the Rett syndrome. Brain & Development, 12, 16\u201319.","journal-title":"Brain & Development"},{"key":"9351_CR51","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/S0387-7604(97)00084-3","volume":"19","author":"A Ogawa","year":"1997","unstructured":"Ogawa, A., Mitsudome, A., Yasumoto, S., & Matsumoto, T. (1997). Japanese monozygotic twins with Rett syndrome. Brain & Development, 19, 568\u2013570.","journal-title":"Brain & Development"},{"key":"9351_CR52","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.earlhumdev.2013.02.004","volume":"89","author":"AB Palchik","year":"2013","unstructured":"Palchik, A. B., Einspieler, C., Evstafeyeva, I. V., Talisa, V. B., & Marschik, P. B. (2013). Intra-uterine exposure to maternal opiate abuse and HIV: the impact on the developing nervous system. Early Human Development, 89, 229\u2013235.","journal-title":"Early Human Development"},{"key":"9351_CR53","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1002\/ajmg.1320290322","volume":"29","author":"MW Partington","year":"1988","unstructured":"Partington, M. W. (1988). Rett syndrome in monozygotic twins. American Journal of Medical Genetics, 29, 633\u2013637.","journal-title":"American Journal of Medical Genetics"},{"key":"9351_CR54","first-page":"100","volume":"156","author":"H Phagava","year":"2008","unstructured":"Phagava, H., Muratori, F., Einspieler, C., Maestro, S., Apicella, F., Guzzetta, A., et al. (2008). General movements in infants with autism spectrum disorders. Georgian Medical News, 156, 100\u2013105.","journal-title":"Georgian Medical News"},{"key":"9351_CR55","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/j.1399-0004.1996.tb02718.x","volume":"50","author":"G Pini","year":"1996","unstructured":"Pini, G., Milan, M., & Zappella, M. (1996). Rett syndrome in northern Tuscany (Italy): family tree studies. Clinical Genetics, 50, 486\u2013490.","journal-title":"Clinical Genetics"},{"key":"9351_CR56","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/S0140-6736(96)10182-3","volume":"349","author":"HFR Prechtl","year":"1997","unstructured":"Prechtl, H. F. R., Einspieler, C., Cioni, G., Bos, A. F., Ferrari, F., & Sontheimer, D. (1997). An early marker for neurological deficits after perinatal brain lesions. The Lancet, 349, 1361\u20131363.","journal-title":"The Lancet"},{"key":"9351_CR57","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s11568-008-9026-9","volume":"2","author":"LG Rosser","year":"2008","unstructured":"Rosser, L. G., McKee, S., Millar, D. S., Archer, H., Hughes, J., Butler, R., et al. (2008). Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine, 2, 77\u201381.","journal-title":"Genomic Medicine"},{"key":"9351_CR58","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1002\/ajmg.a.32002","volume":"143A","author":"E Scala","year":"2007","unstructured":"Scala, E., Longo, I., Ottimo, F., Speciale, C., Sampieri, K., Katzaki, E., et al. (2007). MECP2 deletions and genotype-phenotype correlation in Rett syndrome. American Journal of Medical Genetics. Part A, 143A, 2775\u20132784.","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"9351_CR59","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1086\/515525","volume":"61","author":"NC Schanen","year":"1997","unstructured":"Schanen, N. C., Dahle, E. J., Capozzoli, F., Holm, V. A., Zoghbi, H. Y., & Francke, U. (1997). A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. American Journal of Human Genetics, 61, 634\u2013641.","journal-title":"American Journal of Human Genetics"},{"key":"9351_CR60","doi-asserted-by":"crossref","first-page":"S218","DOI":"10.1016\/S0387-7604(01)00372-2","volume":"23","author":"M Segawa","year":"2001","unstructured":"Segawa, M. (2001). Discussant\u2014pathophysiologies of Rett syndrome. Brain & Development, 23, S218\u2013S223.","journal-title":"Brain & Development"},{"key":"9351_CR61","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/0387-7604(96)00023-X","volume":"18","author":"S Tams-Little","year":"1996","unstructured":"Tams-Little, S., & Holdgrafer, G. (1996). Early communication development in children with Rett syndrome. Brain & Development, 18, 376\u2013378.","journal-title":"Brain & Development"},{"key":"9351_CR62","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0387-7604(12)80192-6","volume":"12","author":"G Tariverdian","year":"1990","unstructured":"Tariverdian, G. (1990). Follow-up of monozygotic twins concordant for the Rett syndrome. Brain & Development, 12, 125\u2013127.","journal-title":"Brain & Development"},{"key":"9351_CR63","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/BF00273849","volume":"75","author":"G Tariverdian","year":"1987","unstructured":"Tariverdian, G., Kantner, G., & Vogel, F. (1987). A monozygotic twin pair with Rett syndrome. Human Genetics, 75, 88\u201390.","journal-title":"Human Genetics"},{"key":"9351_CR64","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.1002\/mds.21744","volume":"22","author":"T Temudo","year":"2007","unstructured":"Temudo, T., Maciel, P., & Sequeiros, J. (2007a). Abnormal movements in Rett syndrome are present before the regression period: a case study. Movement Disorders, 22, 2284\u20132287.","journal-title":"Movement Disorders"},{"key":"9351_CR65","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1212\/01.wnl.0000259086.34769.78","volume":"68","author":"T Temudo","year":"2007","unstructured":"Temudo, T., Oliviera, P., Santos, M., Dias, K., Vieira, J., Moreira, A., et al. (2007b). Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology, 68, 1183\u20131187.","journal-title":"Neurology"},{"key":"9351_CR66","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1086\/302690","volume":"65","author":"M Wan","year":"1999","unstructured":"Wan, M., Lee, S. S., Zhang, X., Houwink-Manville, I., Song, H. R., Amir, R. E., et al. (1999). Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American Journal of Human Genetics, 65, 1520\u20131529.","journal-title":"American Journal of Human Genetics"},{"key":"9351_CR67","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0387-7604(87)80069-4","volume":"9","author":"I Witt-Engerstr\u00f6m","year":"1987","unstructured":"Witt-Engerstr\u00f6m, I. (1987). Rett syndrome: a retrospective pilot study on potential early predictive symptomatology. Brain & Development, 9, 481\u2013486.","journal-title":"Brain & Development"},{"key":"9351_CR68","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.earlhumdev.2012.06.004","volume":"88","author":"H Yang","year":"2012","unstructured":"Yang, H., Einspieler, C., Shi, W., Marschik, P. B., Wang, Y., Cao, Y., et al. (2012). Cerebral palsy in children: movements and postures during early infancy, dependent on preterm vs. full term birth. Early Human Development, 88, 837\u2013843.","journal-title":"Early Human Development"},{"key":"9351_CR69","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.ejmg.2012.08.009","volume":"55","author":"X Zhang","year":"2012","unstructured":"Zhang, X., Bao, X., Zhang, J., Zhao, Y., Cao, G., Pan, H., et al. (2012). Molecular characteristics of Chinese patients with Rett syndrome. European Journal of Medical Genetics, 55, 677\u2013681.","journal-title":"European Journal of Medical Genetics"},{"key":"9351_CR70","author":"L Zwaigenbaum","year":"2013","unstructured":"Zwaigenbaum, L., Bryson, S., & Garon, N. (2013). Early identification of autism spectrum disorders. Behavioural Brain Research. doi: 10.1016\/j.bbr.2013.04.004 .","journal-title":"Behavioural Brain Research"}],"container-title":["Journal of Developmental and Physical Disabilities"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10882-013-9351-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10882-013-9351-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10882-013-9351-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T13:50:39Z","timestamp":1715781039000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10882-013-9351-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,28]]},"references-count":70,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["9351"],"URL":"https:\/\/doi.org\/10.1007\/s10882-013-9351-3","relation":{},"ISSN":["1056-263X","1573-3580"],"issn-type":[{"value":"1056-263X","type":"print"},{"value":"1573-3580","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,28]]}}}