{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T18:19:21Z","timestamp":1790360361806,"version":"4.1.0"},"reference-count":75,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T00:00:00Z","timestamp":1515628800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P25241"],"award-info":[{"award-number":["P25241"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["TCS 24"],"award-info":[{"award-number":["TCS 24"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["16430"],"award-info":[{"award-number":["16430"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Adv Neurodev Disord"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1007\/s41252-017-0051-3","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T19:19:13Z","timestamp":1515611953000},"page":"49-61","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies Using Retrospective Video Analysis"],"prefix":"10.1007","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0960-4973","authenticated-orcid":false,"given":"Laura","family":"Roche","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dajie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin D.","family":"Bartl-Pokorny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian B.","family":"Pokorny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn W.","family":"Schuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"B\u00f6lte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"Roeyers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luise","family":"Poustka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Gugatschka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Waddington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Vollmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christa","family":"Einspieler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter B.","family":"Marschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,1,11]]},"reference":[{"key":"51_CR1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.) (DSM-5\u00ae). Washington, DC: American Psychiatric Association.","DOI":"10.1176\/appi.books.9780890425596"},{"key":"51_CR2","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":"51_CR3","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1352\/0895-8017(1998)103<0029:EDTOMW>2.0.CO;2","volume":"103","author":"DB Bailey Jr","year":"1998","unstructured":"Bailey Jr., D. B., Hatton, D. D., & Skinner, M. (1998). Early developmental trajectories of males with fragile X syndrome. American Journal on Mental Retardation, 103, 29\u201339.","journal-title":"American Journal on Mental Retardation"},{"key":"51_CR4","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1542\/peds.2008-2992","volume":"124","author":"DB Bailey Jr","year":"2009","unstructured":"Bailey Jr., D. B., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile X syndrome: findings from a national parent survey. Pediatrics, 124, 527\u2013533.","journal-title":"Pediatrics"},{"key":"51_CR5","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1023\/A:1023080005650","volume":"29","author":"GT Baranek","year":"1999","unstructured":"Baranek, G. T. (1999). Autism during infancy: a retrospective video analysis of sensory-motor and social behaviors at 9\u201312\u00a0months of age. Journal of Autism and Developmental Disorders, 29, 213\u2013224.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"51_CR6","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/s10803-005-0008-7","volume":"35","author":"GT Baranek","year":"2005","unstructured":"Baranek, G. T., Danko, C. D., Skinner, M. L., Donald Jr., B., Hatton, D. D., Roberts, J. E., & Mirrett, P. L. (2005). Video analysis of sensory-motor features in infants with fragile X syndrome at 9\u201312\u00a0months of age. Journal of Autism and Developmental Disorders, 35, 645\u2013656.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"51_CR7","doi-asserted-by":"crossref","unstructured":"*Bartl-Pokorny, K. D., Marschik, P. B., Sigafoos, J., Tager-Flusberg, H., Kaufmann, W. E., Grossmann, T., & Einspieler, C. (2013). Early socio-communicative forms and functions in typical Rett syndrome. Research in Developmental Disabilities, 34, 3133\u20133138.","DOI":"10.1016\/j.ridd.2013.06.040"},{"key":"51_CR8","doi-asserted-by":"crossref","unstructured":"*Belardi, K., Watson, L. R., Faldowski, R. A., Hazlett, H., Crais, E., Baranek, G. T., ... & Oller, D. K. (2017). A retrospective video analysis of canonical babbling and volubility in infants with fragile X syndrome at 9\u201312\u00a0months of age. Journal of Autism and Developmental Disorders, 47, 1193\u20131206.","DOI":"10.1007\/s10803-017-3033-4"},{"key":"51_CR9","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s00787-012-0368-4","volume":"22","author":"S B\u00f6lte","year":"2013","unstructured":"B\u00f6lte, S., Marschik, P. B., Falck-Ytter, T., Charman, T., Roeyers, H., & Elsabbagh, M. (2013). Infants at risk for autism: a European perspective on current status, challenges and opportunities. European Child & Adolescent Psychiatry, 22, 341\u2013348.","journal-title":"European Child & Adolescent Psychiatry"},{"key":"51_CR10","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/apa.13243","volume":"105","author":"S B\u00f6lte","year":"2016","unstructured":"B\u00f6lte, S., Bartl-Pokorny, K. D., Jonsson, U., Berggren, S., Zhang, D., Kostrzewa, E., Falck-Ytter, T., Einspieler, C., Pokorny, F. B., Jones, E., Roeyers, H., Charman, T., & Marschik, P. B. (2016). How can clinicians detect and treat autism early? Methodological trends of technology use in research. Acta Paediatrica, 105, 137\u2013144.","journal-title":"Acta Paediatrica"},{"key":"51_CR11","doi-asserted-by":"crossref","unstructured":"*Brisson, J., Martel, K., Serres, J., Sirois, S., & Adrien, J. L. (2014). Acoustic analysis of oral productions of infants later diagnosed with autism and their mother. Infant Mental Health, 35, 285\u2013295.","DOI":"10.1002\/imhj.21442"},{"key":"51_CR12","unstructured":"Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Autism and Developmental Disabilities Monitoring Network (2016). http:\/\/www.cdc.gov\/ncbddd\/dd\/aic\/states\/default.htm#addm . Accessed Aug 2017."},{"key":"51_CR13","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13229-017-0145-9","volume":"8","author":"T Charman","year":"2017","unstructured":"Charman, T., Loth, E., Tillmann, J., Crawley, D., Wooldridge, C., Goyard, D., et al. (2017). The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation. Molecular Autism, 8, 27.","journal-title":"Molecular Autism"},{"key":"51_CR14","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.3389\/fpsyg.2016.01595","volume":"7","author":"N Chericoni","year":"2016","unstructured":"Chericoni, N., De Brito Wanderley, D., Costanzo, V., Diniz-Gon\u00e7alves, A., Gille, M. L., Parlato, E., et al. (2016). Pre-FVm. Frontiers in Psychology, 7, 1595.","journal-title":"Frontiers in Psychology"},{"key":"51_CR15","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1007\/s10803-007-0444-7","volume":"38","author":"SM Clifford","year":"2008","unstructured":"Clifford, S. M., & Dissanayake, C. (2008). The early development of joint attention in infants with autistic disorder using home video observations and parental interview. Journal of Autism and Developmental Disorders, 38, 791\u2013805.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"51_CR16","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.neubiorev.2015.06.006","volume":"55","author":"V Costanzo","year":"2015","unstructured":"Costanzo, V., Chericoni, N., Amendola, F. A., Casula, L., Muratori, F., Scattoni, M. L., & Apicella, F. (2015). Early detection of autism spectrum disorders: from retrospective home video studies to prospective \u2018high risk\u2019 sibling studies. Neuroscience & Biobehavioral Reviews, 55, 627\u2013635.","journal-title":"Neuroscience & Biobehavioral Reviews"},{"key":"51_CR17","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/00125817-200109000-00006","volume":"3","author":"DC Crawford","year":"2001","unstructured":"Crawford, D. C., Acu\u00f1a, J. M., & Sherman, S. L. (2001). FMR1 and the fragile X syndrome: human genome epidemiology review. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 3, 359\u2013371.","journal-title":"Genetics in Medicine: Official Journal of the American College of Medical Genetics"},{"key":"51_CR18","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1017\/S0954579413000710","volume":"25","author":"G Dawson","year":"2013","unstructured":"Dawson, G., & Bernier, R. (2013). A quarter century of progress on the early detection and treatment of autism spectrum disorder. Development and Psychopathology, 25, 1455\u20131472.","journal-title":"Development and Psychopathology"},{"issue":"5 Pt 1","key":"51_CR19","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. (2005a). Is the early development of girls with Rett disorder really normal? Paediatric Research, 57(5 Pt 1), 696\u2013700.","journal-title":"Paediatric Research"},{"key":"51_CR20","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. (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":"51_CR21","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.rasd.2013.12.013","volume":"8","author":"C Einspieler","year":"2014","unstructured":"Einspieler, C., Sigafoos, J., Bartl-Pokorny, K. D., Landa, R., Marschik, P. B., & B\u00f6lte, S. (2014). Highlighting the first 5\u00a0months of life: general movements in infants later diagnosed with autism spectrum disorder or Rett syndrome. Research in Autism Spectrum Disorders, 8, 286\u2013291.","journal-title":"Research in Autism Spectrum Disorders"},{"key":"51_CR22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s10354-016-0498-2","volume":"166","author":"C Einspieler","year":"2016","unstructured":"Einspieler, C., Freilinger, M., & Marschik, P. B. (2016). Behavioural biomarkers of typical Rett syndrome: moving towards early identification. Wiener Medizinische Wochenschrift, 166, 333\u2013337.","journal-title":"Wiener Medizinische Wochenschrift"},{"key":"51_CR23","doi-asserted-by":"crossref","unstructured":"*Eriksson, A. S., & de Chateau, P. (1992). Brief report: a girl aged 2\u00a0years and seven months with autistic disorder videotaped from birth. Journal of Autism and Developmental Disorders, 22, 127\u2013129.","DOI":"10.1007\/BF01046408"},{"key":"51_CR24","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1177\/1088357609336449","volume":"24","author":"G Esposito","year":"2009","unstructured":"Esposito, G., & Venuti, P. (2009). Comparative analysis of crying in children with autism, developmental delays, and typical development. Focus on Autism and Other Developmental Disabilities, 24, 240\u2013247.","journal-title":"Focus on Autism and Other Developmental Disabilities"},{"key":"51_CR25","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1017\/S0305000908009070","volume":"36","author":"MK Fagan","year":"2009","unstructured":"Fagan, M. K. (2009). Mean length of utterance before words and grammar: longitudinal trends and developmental implications of infant vocalizations. Journal of Child Language, 36, 495\u2013527.","journal-title":"Journal of Child Language"},{"key":"51_CR26","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1007\/s10803-007-0498-6","volume":"6","author":"WA Goldberg","year":"2008","unstructured":"Goldberg, W. A., Thorsen, K. L., Osann, K., & Spence, M. A. (2008). Use of home videotapes to confirm parental reports of regression in autism. Journal of Autism and Developmental Disorders, 6, 1136\u20131146.","journal-title":"Journal of Autism and Developmental Disorders"},{"key":"51_CR27","doi-asserted-by":"crossref","unstructured":"Green, J., Pickles, A., Pasco, G., Bedford, R., Wan, M. W., Elsabbagh, M., ... & Johnson, M. H. (2017). Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3\u00a0years. Journal of Child Psychology and Psychiatry, 58, 1330\u20131340.","DOI":"10.1111\/jcpp.12728"},{"key":"51_CR28","volume-title":"Rett syndrome\u2014clinical and biological aspects: studies on 130 Swedish females (no. 127)","author":"B Hagberg","year":"1993","unstructured":"Hagberg, B., & Anvret, M. (1993). Rett syndrome\u2014clinical and biological aspects: studies on 130 Swedish females (no. 127). Cambridge: Cambridge University Press."},{"key":"51_CR29","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0387-7604(87)80062-1","volume":"9","author":"B Hagberg","year":"1987","unstructured":"Hagberg, B., & Witt-Engerstr\u00f6m, I. (1987). Rett syndrome: epidemiology and nosology\u2014progress in knowledge 1986\u2014a conference communication. Brain and Development, 9, 451\u2013457.","journal-title":"Brain and Development"},{"key":"51_CR30","doi-asserted-by":"crossref","first-page":"206","DOI":"10.56021\/9780801868436","volume-title":"Fragile X syndrome: diagnosis, treatment, and research","author":"RJ Hagerman","year":"2002","unstructured":"Hagerman, R. J. (2002). The physical and behavioral phenotype. In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: diagnosis, treatment, and research (3rd ed., pp. 206\u2013248). Baltimore: Johns Hopkins University Press.","edition":"3"},{"key":"51_CR31","doi-asserted-by":"crossref","first-page":"58","DOI":"10.3109\/17518423.2012.704414","volume":"16","author":"R Hinton","year":"2013","unstructured":"Hinton, R., Budimirovic, D. B., Marschik, P. B., Talisa, V. B., Einspieler, C., Gipson, T., & Johnston, M. V. (2013). Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders. Developmental Neurorehabilitation, 16, 58\u201366.","journal-title":"Developmental Neurorehabilitation"},{"key":"51_CR32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.neubiorev.2013.12.001","volume":"39","author":"EJ Jones","year":"2014","unstructured":"Jones, E. J., Gliga, T., Bedford, R., Charman, T., & Johnson, M. H. (2014). Developmental pathways to autism: a review of prospective studies of infants at risk. Neuroscience & Biobehavioral Reviews, 39, 1\u201333.","journal-title":"Neuroscience & Biobehavioral Reviews"},{"key":"51_CR33","doi-asserted-by":"crossref","unstructured":"Karmiloff, K., & Karmiloff-Smith, A. (2009). Pathways to language from fetus to adolescent. Cambridge, MA: Harvard University Press.","DOI":"10.2307\/j.ctvjk2wz6"},{"key":"51_CR34","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. B. (1998). Is the girl with Rett syndrome normal at birth? Developmental Medicine & Child Neurology, 40, 115\u2013121.","journal-title":"Developmental Medicine & Child Neurology"},{"key":"51_CR35","unstructured":"Locke, J. L. (1995). The child\u2019s pathway to spoken language (2nd ed.). Cambridge, MA: Harvard University Press."},{"key":"51_CR36","doi-asserted-by":"crossref","unstructured":"Loth, E., Charman, T., Mason, L., Tillmann, J., Jones, E. J., Wooldridge, C., ... & Buitelaar, J. K. (2017). The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders. Molecular Autism, 8, 24.","DOI":"10.1186\/s13229-017-0146-8"},{"key":"51_CR37","doi-asserted-by":"crossref","unstructured":"*Maestro, S., Muratori, F., Barbieri, F., Casella, C., Cattaneo, V., Cavallaro, M. C., ... & Stern, D. D. (2001). Early behavioral development in autistic children: the first 2\u00a0years of life through home movies. Psychopathology, 34, 147\u2013152.","DOI":"10.1159\/000049298"},{"key":"51_CR38","doi-asserted-by":"crossref","unstructured":"*Maestro, S., Muratori, F., Cavallaro, M. C., Pei, F., Stern, D., Golse, B., & Palacio-Espasa, F. (2002). Attentional skills during the first 6\u00a0months of age in autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 41, 1239\u20131245.","DOI":"10.1097\/00004583-200210000-00014"},{"key":"51_CR39","doi-asserted-by":"crossref","unstructured":"*Maestro, S., Muratori, F., Cavallaro, M. C., Pecini, C., Cesari, A., Paziente, A., ... & Palacio-Espasa, F. (2005). How young children treat objects and people: an empirical study of the first year of life in autism. Child Psychiatry and Human Development, 35, 383\u2013396.","DOI":"10.1007\/s10578-005-2695-x"},{"key":"51_CR40","doi-asserted-by":"crossref","unstructured":"*Mars, A. E., Mauk, J. E., & Dowrick, P. W. (1998). Symptoms of pervasive developmental disorders as observed in prediagnostic home videos of infants and toddlers. The Journal of Pediatrics, 132, 500\u2013504.","DOI":"10.1016\/S0022-3476(98)70027-7"},{"key":"51_CR41","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":"51_CR42","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.earlhumdev.2006.05.009","volume":"83","author":"PB Marschik","year":"2007","unstructured":"Marschik, P. B., Einspieler, C., Garzarolli, B., & Prechtl, H. F. (2007). Events at early development: are they associated with early word production and neurodevelopmental abilities at the preschool age? Early Human Development, 83, 107\u2013114.","journal-title":"Early Human Development"},{"key":"51_CR43","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Einspieler, C., Oberle, A., Laccone, F., & Prechtl, H. F. (2009). Case report: retracing atypical development: a preserved speech variant of Rett syndrome. Journal of Autism and Developmental Disorders, 39, 958\u2013961.","DOI":"10.1007\/s10803-009-0703-x"},{"key":"51_CR44","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Pini, G., Bartl-Pokorny, K. D., Duckworth, M., Gugatschka, M., Vollmann, R., ... & Einspieler, C. (2012a). Early speech\u2013language development in females with Rett syndrome: focusing on the preserved speech variant. Developmental Medicine & Child Neurology, 54, 451\u2013456.","DOI":"10.1111\/j.1469-8749.2012.04123.x"},{"key":"51_CR45","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Kaufmann, W. E., Einspieler, C., Bartl-Pokorny, K. D., Wolin, T., Pini, G., ... & Sigafoos, J. (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.","DOI":"10.1016\/j.ridd.2012.04.012"},{"key":"51_CR46","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Kaufmann, W. E., Sigafoos, J., Wolin, T., Zhang, D., Bartl-Pokorny, K. D., ... & Johnston, M. V. (2013a). Changing the perspective on early development of Rett syndrome. Research in Developmental Disabilities, 34, 1236\u20131239.","DOI":"10.1016\/j.ridd.2013.01.014"},{"key":"51_CR47","doi-asserted-by":"crossref","unstructured":"*Marschik P. B., Bartl-Pokorny, K. D., Tager-Flusberg, H., Kaufmann, W. E., Pokorny, F., Grossman, T., Windpassinger, C., Petek, E., & Einspieler, C. (2013b). Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant, and normal development. Developmental Neurorehabilitation, 17, 34\u201338.","DOI":"10.3109\/17518423.2013.837537"},{"key":"51_CR48","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Vollmann, R., Bartl-Pokorny, K. D., Green, V. A., van der Meer, L., Wolin, T., & Einspieler, C. (2014a). Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome. Developmental Neurorehabilitation, 17, 284\u2013290.","DOI":"10.3109\/17518423.2013.783139"},{"key":"51_CR49","doi-asserted-by":"crossref","unstructured":"*Marschik, P. B., Bartl-Pokorny, K. D., Sigafoos, J., Urlesberger, L., Pokorny, F., Didden, R., ... & Kaufmann, W. E. (2014b). Development of socio-communicative skills in 9-to 12-month-old individuals with fragile X syndrome. Research in Developmental Disabilities, 35, 597\u2013602.","DOI":"10.1016\/j.ridd.2014.01.004"},{"key":"51_CR50","doi-asserted-by":"crossref","unstructured":"Marschik, P. B., Pokorny, F. B., Peharz, R., Zhang, D., O\u2019Muircheartaigh, J., Roeyers, H., ... & Kaufmann, W. E. (2017). A novel way to measure and predict development: a heuristic approach to facilitate the early detection of neurodevelopmental disorders. Current Neurology and Neuroscience Reports, 17, 43.","DOI":"10.1007\/s11910-017-0748-8"},{"key":"51_CR51","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1044\/1092-4388(2001\/054)","volume":"44","author":"L McCune","year":"2001","unstructured":"McCune, L., & Vihman, M. M. (2001). Early phonetic and lexical development: a productivity approach. Journal of Speech, Language, and Hearing Research, 44, 670\u2013684.","journal-title":"Journal of Speech, Language, and Hearing Research"},{"key":"51_CR52","doi-asserted-by":"crossref","unstructured":"Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., ... & Percy A. K. (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944\u2013950.","DOI":"10.1002\/ana.22124"},{"key":"51_CR53","doi-asserted-by":"crossref","unstructured":"Oller, D. K. (1980). The emergence of the sounds of speech in infancy. In G. Yeni-Komshian, J. Kavanagh, & C. A. Ferguson (Eds.), Child phonology (Vol. 1, pp. 93\u2013112). New York: Academic Press.","DOI":"10.1016\/B978-0-12-770601-6.50011-5"},{"key":"51_CR54","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0021-9924(99)00013-1","volume":"32","author":"DK Oller","year":"1999","unstructured":"Oller, D. K., Eilers, R. E., Neal, A. R., & Schwartz, H. K. (1999). Precursors to speech in infancy: the prediction of speech and language disorders. Journal of Communication Disorders, 32, 223\u2013245.","journal-title":"Journal of Communication Disorders"},{"key":"51_CR55","doi-asserted-by":"crossref","unstructured":"*Osterling, J. A., Dawson, G., & Munson, J. A. (2002). Early recognition of 1\u00a0year old infants with autism spectrum disorder versus mental retardation. Journal of Developmental Psychopathology, 14, 239\u2013251.","DOI":"10.1017\/S0954579402002031"},{"key":"51_CR56","doi-asserted-by":"crossref","unstructured":"Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., ... & Hutman, T. (2011). Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics, 128, 488\u2013495.","DOI":"10.1542\/peds.2010-2825"},{"key":"51_CR57","doi-asserted-by":"crossref","first-page":"S59","DOI":"10.1097\/00004703-200604002-00003","volume":"27","author":"R Palomo","year":"2006","unstructured":"Palomo, R., Belinch\u00f3n, M., & Ozonoff, S. (2006). Autism and family home movies: a comprehensive review. Journal of Developmental & Behavioral Pediatrics, 27, S59\u2013S68.","journal-title":"Journal of Developmental & Behavioral Pediatrics"},{"key":"51_CR58","doi-asserted-by":"crossref","unstructured":"*Patten, E., Belardi, K., Baranek, G. T., Watson, L. R., Labban, J. D., & Oller, D. K. (2014). Vocal patterns in infants with autism spectrum disorder: canonical babbling status and vocalization frequency. Journal of Autism and Developmental Disorders, 44, 2413\u20132428.","DOI":"10.1007\/s10803-014-2047-4"},{"key":"51_CR59","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/j.1469-7610.2010.02332.x","volume":"52","author":"R Paul","year":"2011","unstructured":"Paul, R., Fuerst, Y., Ramsay, G., Chawarska, K., & Klin, A. (2011). Out of the mouths of babes: vocal production in infant siblings of children with ASD. Journal of Child Psychology and Psychiatry, 52, 588\u2013598.","journal-title":"Journal of Child Psychology and Psychiatry"},{"key":"51_CR60","doi-asserted-by":"crossref","unstructured":"*Pokorny, F. B., Marschik, P. B., Einspieler, C., & Schuller, B. W. (2016). Does she speak RTT? Towards an earlier identification of Rett Syndrome through intelligent pre-linguistic vocalisation analysis. Proceedings Interspeech 2016, 1953\u20131957.","DOI":"10.21437\/Interspeech.2016-520"},{"key":"51_CR61","doi-asserted-by":"crossref","unstructured":"*Receveur, C., Lenoir, P., Desombre, H., Roux, S., & Malvy, J. (2005). Interaction and imitation deficits from infancy to 4\u00a0years of age in children with autism: a pilot study based on videotapes. Autism, 9, 69\u201382.","DOI":"10.1177\/1362361305049030"},{"key":"51_CR62","doi-asserted-by":"crossref","unstructured":"Renieri, A., Mari, F., Mencarelli, M. A., Scala, E., Ariani, F., Longo, I., ... & Zappella, M. (2009). Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain and Development, 31, 208\u2013216.","DOI":"10.1016\/j.braindev.2008.04.007"},{"key":"51_CR63","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1177\/152574010002100202","volume":"21","author":"J Sigafoos","year":"2000","unstructured":"Sigafoos, J., Woodyatt, G., Keen, D., Tait, K., Tucker, M., Roberts-Pennell, D., & Pittendreigh, N. (2000). Identifying potential communicative acts in children with developmental and physical disabilities. Communication Disorders Quarterly, 21, 77\u201386.","journal-title":"Communication Disorders Quarterly"},{"key":"51_CR64","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.jpeds.2008.09.012","volume":"154","author":"M Spreckley","year":"2009","unstructured":"Spreckley, M., & Boyd, R. (2009). Efficacy of applied behavioral intervention in preschool children with autism for improving cognitive, language, and adaptive behavior: a systematic review and meta-analysis. The Journal of Pediatrics, 154, 338\u2013344.","journal-title":"The Journal of Pediatrics"},{"key":"51_CR65","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/B978-0-12-770601-6.50010-3","volume-title":"Child phonology: production","author":"RE Stark","year":"1980","unstructured":"Stark, R. E. (1980). Stages of speech development in the first year of life. In G. Yeni-Komshian, J. F. Kavanagh, & C. A. Ferguson (Eds.), Child phonology: production (Vol. 1, pp. 73\u201395). New York: Academic Press."},{"key":"51_CR66","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.pcl.2007.02.011","volume":"54","author":"H Tager-Flusberg","year":"2007","unstructured":"Tager-Flusberg, H., & Caronna, E. (2007). Language disorders: autism and other pervasive developmental disorders. Pediatric Clinics of North America, 54, 469\u2013481.","journal-title":"Pediatric Clinics of North America"},{"key":"51_CR67","doi-asserted-by":"crossref","unstructured":"Tarquinio, D. C., Hou, W., Neul, J. L., Lane, J. B., Barnes, K. V., O'Leary, H. M., ... & Skinner, S. A. (2015). Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatric Neurology, 52, 585\u2013591.","DOI":"10.1016\/j.pediatrneurol.2015.02.007"},{"key":"51_CR68","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1007\/s10803-007-0479-9","volume":"6","author":"KL Thorsen","year":"2008","unstructured":"Thorsen, K. L., Goldberg, W. A., Osann, K., & Spence, M. A. (2008). Birthday and non-birthday videotapes: the importance of context for the behaviour of young children with autism. The Journal of Autism and Developmental Disorders, 6, 1047\u20131058.","journal-title":"The Journal of Autism and Developmental Disorders"},{"key":"51_CR69","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/nrg.2017.4","volume":"18","author":"JA Vorstman","year":"2017","unstructured":"Vorstman, J. A., Parr, J. R., Moreno-De-Luca, D., Anney, R. J., Nurnberger Jr., J. I., & Hallmayer, J. F. (2017). Autism genetics: opportunities and challenges for clinical translation. Nature Reviews Genetics, 18, 362\u2013376.","journal-title":"Nature Reviews Genetics"},{"key":"51_CR70","doi-asserted-by":"crossref","unstructured":"*Werner, E., & Dawson, G. (2005). Validation of the phenomenon of autistic regression using home videotapes. Archives of General Psychiatry, 62, 889\u2013895.","DOI":"10.1001\/archpsyc.62.8.889"},{"key":"51_CR71","doi-asserted-by":"crossref","unstructured":"*Werner, E., Dawson, G., Osterling, J., & Dinno, N. (2000). Brief report: recognition of autism spectrum disorder before one year of age: a retrospective study based on home videotapes. Journal of Autism and Developmental Disorders, 30, 157\u2013162.","DOI":"10.1023\/A:1005463707029"},{"key":"51_CR72","doi-asserted-by":"crossref","unstructured":"*Zappella, M., Einspieler, C., Bartl-Pokorny, K. D., Krieber, M., Coleman, M., B\u00f6lte, S., & Marschik, P. B. (2015). What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life\u2014an exploratory study. Early Human Development, 91, 569\u2013575.","DOI":"10.1016\/j.earlhumdev.2015.07.006"},{"key":"51_CR73","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3109\/13668250.2016.1228858","volume":"42","author":"D Zhang","year":"2017","unstructured":"Zhang, D., Kaufmann, W. E., Sigafoos, J., Bartl-Pokorny, K. D., Krieber, M., Marschik, P. B., & Einspieler, C. (2017). Parents\u2019 initial concerns about the development of their children later diagnosed with fragile X syndrome. Journal of Intellectual & Developmental Disability, 42, 114\u2013122.","journal-title":"Journal of Intellectual & Developmental Disability"},{"key":"51_CR74","doi-asserted-by":"crossref","unstructured":"Zwaigenbaum, L., Bryson, S., Lord, C., Rogers, S., Carter, A., Carver, L., ... & Fein, D. (2009). Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics, 123, 1383\u20131391.","DOI":"10.1542\/peds.2008-1606"},{"key":"51_CR75","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.bbr.2013.04.004","volume":"251","author":"L Zwaigenbaum","year":"2013","unstructured":"Zwaigenbaum, L., Bryson, S., & Garon, N. (2013). Early identification of autism spectrum disorders. Behavioural Brain Research, 251, 133\u2013146.","journal-title":"Behavioural Brain Research"}],"container-title":["Advances in Neurodevelopmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s41252-017-0051-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s41252-017-0051-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s41252-017-0051-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,30]],"date-time":"2024-06-30T08:11:19Z","timestamp":1719735079000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s41252-017-0051-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,11]]},"references-count":75,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["51"],"URL":"https:\/\/doi.org\/10.1007\/s41252-017-0051-3","relation":{},"ISSN":["2366-7532","2366-7540"],"issn-type":[{"value":"2366-7532","type":"print"},{"value":"2366-7540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,11]]}}}