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Übersicht

Früherkennung von Entwicklungsstörungen: Kanonisches Lallen (k)‌ein diagnostischer Marker‍(!)?

Published Online:https://doi.org/10.1026/0942-5403/a000324

Zusammenfassung.Theoretischer Hintergrund: Forschungsergebnisse zum frühen Spracherwerb bei Kindern mit spät erkannten Entwicklungsstörungen sind inkonsistent und angesichts unterschiedlicher Forschungsparadigmen und Definitionen nur bedingt vergleichbar. Fragestellung: Ziel dieser Übersichtsarbeit ist es, das Potenzial früher verbaler Fähigkeiten, vor allem des kanonischen Lallens, als Marker zur Früherkennung von Autismus-Spektrum-Störung, Rett-Syndrom und Fragilem-X-Syndrom zu beschreiben. Methode: Übersichtsarbeit über retrospektive und prospektive Studien zu frühen verbalen Fähigkeiten in der Prodromalphase dieser Störungsbilder. Ergebnisse: Einige Kinder mit spät erkannten Entwicklungsstörungen erwerben das kanonische Lallen nach dem kritischen Zeitfenster von 6 bis 10 Monaten und/oder haben oft qualitative Veränderungen in ihren Lautäußerungen. Diskussion und Schlussfolgerung: Eine abweichende Entwicklung des kanonischen Lallens kann auf spätere atypische Entwicklung hinweisen. Als funktioneller Marker für die spezifische Früherkennung von Entwicklungsstörungen scheint dieser Erwerbsmeilenstein jedoch nicht geeignet. Linguistische und signalbasierte Detailanalysen frühkindlicher Vokalisationen könnten zukünftig einen entscheidenden Beitrag hierzu leisten.


Early Detection of Developmental Disorders: The role of Canonical Babbling

Abstract.Theoretical Background: This article addresses early verbal capacities in children with late detected developmental disorders (LDDDs), i. e., medical conditions that are commonly not diagnosed until toddlerhood. In particular, we focus on autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS), all associated with speech-language and socio-communicative impairments. Partly due to their generally late diagnostic age, little is known about the verbal phenomena during the first years, i. e., the prediagnostic period, of these disorders. Canonical babbling (CB), for example, is an important preverbal milestone in early speech-language development typically achieved between 6 and 10 months of age. It is suggested that infants who fail to achieve CB within this time window will later present speech-language deficits. Objective: In this article, we review and discuss early verbal atypicalities associated with ASD, RTT, and FXS, with a special focus on CB. We aim to examine whether deviations related to CB may provide valuable cues to facilitate earlier identification of LDDDs. Method: We report on retrospective as well as prospective approaches to study early verbal development in LDDDs. Challenges and methodological issues investigating early verbal capacities in LDDDs are discussed. Results: Studies of CB in infants with ASD, and especially with RTT and FXS, are rare. Heterogeneous findings were revealed. While some studies reported a delayed onset and reduced rate of CB in infants with ASD, RTT, or FXS, others found that a proportion of infants with these disorders do achieve the CB milestone on time and they vocalize comparable ratios of CB to their typically developing peers. However, the existing studies are hard to compare due to differences in study design, measurements, and/or the definition of CB. Recently, researchers began to investigate potential differences in CB of children with LDDDs and typically developing peers at signal level, i. e., the acoustic parameters of CB, exploiting machine-learning technologies. Studies suggest that even if the CB milestone can be regarded as achieved in terms of onset time and ratio, differences may appear with respect to linguistic and acoustic qualities of vocalizations in infants with LDDDs. Discussion and Conclusion: While failing to achieve CB by 10 months of age may prove to be a sensitive sign associated with later speech-language deficits, it is not a specific marker pointing to an LDDD. Nonetheless, deviations in CB flag atypical speech-language development within the first year of life and justify intensive monitoring that may expedite the process of specific diagnosis and set out targeted interventions. This rationalizes the significance of investigating early vocalizations, including CB, aiming at an earlier identification of LDDDs. Further studies that incorporate, e. g., detailed linguistic and signal-level analyses to obtain a reliable picture of the role of preverbal development in general, and CB as age-specific pattern, in the early pathways of such disorders are urgently needed. Given that not all individuals with LDDDs, e. g., ASD, necessarily manifest speech-language deficits, studies of early verbal capacities of individuals with LDDDs ought to take the different outcomes, e. g., later language capacities, into account when interpreting the role of verbal development in the prediagnostic period in early detection of LDDDs.

Literatur

  • American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Association. First citation in articleCrossrefGoogle Scholar

  • 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. Nature Genetics, 23, 185 – 188. First citation in articleCrossrefGoogle Scholar

  • Bailey, D. B. J., 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 – 533. First citation in articleCrossrefGoogle Scholar

  • Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z. et al. (2018). Prevalence of autism spectrum disorder among children aged 8 years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. Morbidity and Mortality Weekly Report. Surveillance Summaries, 67, 1 – 23. First citation in articleCrossrefGoogle Scholar

  • Belardi, K., Watson, L. R., Faldowski, R. A., Hazlett, H., Crais, E., Baranek, G. T. et al. (2017). A retrospective video analysis of canonical babbling and volubility in infants with fragile X syndrome at 9 – 12 months of age. Journal of Autism and Developmental Disorders, 47, 1193 – 1206. https://doi.org/10.1007/s10803-017-3033-4 First citation in articleCrossrefGoogle Scholar

  • Centers for Disease Control and Prevention. (2016). Identified prevalence of autism spectrum disorder. Retrieved from https://www.cdc.gov/ncbddd/autism/data.html First citation in articleGoogle Scholar

  • Chapman, K. L., Hardin-Jones, M., Schulte, J. & Halter, K. A. (2001). Vocal development of 9-month-old babies with cleft palate. Journal of Speech, Language, and Hearing Research, 44, 1268 – 1283. https://doi.org/10.1044/1092-4388(2001/099) First citation in articleCrossrefGoogle Scholar

  • Chen, L. M. & Kent, R. D. (2005). Consonant-vowel co-occurrence patterns in Mandarin-learning infants. Journal of Child Language, 32, 507 – 534. https://doi.org/10.1017/s0305000905006896 First citation in articleCrossrefGoogle Scholar

  • Chericoni, N., de Brito Wanderley, D., Costanzo, V., Diniz-Goncalves, A., Leitgel Gille, M., Parlato, E. et al. (2016). Pre-linguistic vocal trajectories at 6 – 18 Months of age as early markers of autism. Frontiers in Psychology, 7, 1595. https://doi.org/10.3389/fpsyg.2016.01595 First citation in articleGoogle Scholar

  • Eilers, R. E. & Oller, D. K. (1994). Infant vocalizations and the early diagnosis of severe hearing impairment. Journal of Pediatrics, 124, 199 – 203. https://doi.org/10.1016/s0022-3476(94)70303-5 First citation in articleCrossrefGoogle Scholar

  • Einspieler, C., Kerr, A. M. & Prechtl, H. F. R. (2005). Is the early development of girls with Rett disorder really normal? Pediatr. Res, 57, 696 – 700. First citation in articleCrossrefGoogle Scholar

  • Einspieler, C. & Marschik, P. B. (2019). Regression in Rett syndrome: Developmental pathways to its onset. Neuroscience and Biobehavioral Reviews, 98, 320 – 332. https://doi.org/10.1016/j.neubiorev.2019.01.028 First citation in articleCrossrefGoogle Scholar

  • Einspieler, C., Marschik, P. B., Domingues, W., Talisa, V. B., Bartl-Pokorny, K. D., Wolin, T. et al. (2014). Monozygotic twins with Rett syndrome: Phenotyping the first two years of life. J Dev Phys Disabil, 26, 171 – 182. https://doi.org/10.1007/s10882-013-9351-3 First citation in articleCrossrefGoogle Scholar

  • Eriksson, M., Marschik, P. B., Tulviste, T., Almgren, M., Pérez Pereira, M., Wehberg, S. et al. (2012). Differences between girls and boys in emerging language skills: evidence from 10 language communities British Journal of Developmental Psychology, 30(Pt 2), 326 – 343. First citation in articleCrossrefGoogle Scholar

  • 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 – 527. https://doi.org/10.1017/S0305000908009070 First citation in articleCrossrefGoogle Scholar

  • Farquharson, K., Hogan, T. P., Hoffman, L., Wang, J., Green, K. F. & Green, J. R. (2018). A longitudinal study of infants’ early speech production and later letter identification. PloS One, 13 (10), e0204006. https://doi.org/10.1371/journal.pone.0204006 First citation in articleCrossrefGoogle Scholar

  • Fehr, S., Bebbington, A., Ellaway, C., Rowe, P., Leonard, H. & Downs, J. (2011). Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. Journal of Child Neurology, 26, 980 – 987. https://doi.org/10.1177/0883073811401396 First citation in articleCrossrefGoogle Scholar

  • Garrido, D., Watson, L. R., Carballo, G., Garcia-Retamero, R. & Crais, E. R. (2017). Infants at-risk for autism spectrum disorder: Patterns of vocalizations at 14 months. Autism Research, 10, 1372 – 1383. https://doi.org/10.1002/aur.1788 First citation in articleCrossrefGoogle Scholar

  • Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Jr., Moine, H., Kooy, F., R. et al. (2017). Fragile X syndrome. Nat Rev Dis Primers, 3, 17065. https://doi.org/10.1038/nrdp.2017.65 First citation in articleGoogle Scholar

  • Hagerman, R. J. & Hagerman, P. J. (2002). Fragile X syndrome: diagnosis, treatment, and research (3rd ed.). Baltimore, MD: Johns Hopkins University Press. First citation in articleGoogle Scholar

  • Hamrick, L. R., Seidl, A. & Tonnsen, B. L. (2019). Acoustic properties of early vocalizations in infants with fragile X syndrome. Autism Research, 12, 1663 – 1679. https://doi.org/10.1002/aur.2176 First citation in articleCrossrefGoogle Scholar

  • Hansen, S. N., Schendel, D. E., Francis, R. W., Windham, G. C., Bresnahan, M., Levine, S. Z. et al. (2019). Recurrence risk of autism in siblings and cousins: A multinational, population-based study. Journal of the American Academy of Child and Adolescent Psychiatry, 58, 866 – 875. https://doi.org/10.1016/j.jaac.2018.11.017 First citation in articleCrossrefGoogle Scholar

  • Höfer, J., Hoffmann, F., Kamp-Becker, I., Poustka, L., Roessner, V., Stroth, S. et al. (2019). Pathways to a diagnosis of autism spectrum disorder in Germany: A survey of parents. Child and Adolescent Psychiatryand Mental Health, 13 (16) https://doi.org/10.1186/s13034-019-0276-1 First citation in articleGoogle Scholar

  • Hunter, J., Rivero-Arias, O., Angelov, A., Kim, E., Fotheringham, I. & Leal, J. (2014). Epidemiology of fragile X syndrome: A systematic review and meta-analysis. American Journal of Medical Genetics. Part A, 164 A (7), 1648 – 1658. https://doi.org/10.1002/ajmg.a.36511 First citation in articleCrossrefGoogle Scholar

  • Iverson, J. M. & Wozniak, R. H. (2007). Variation in vocal-motor development in infant siblings of children with autism. Journal of Autism and Developmental Disorders, 37, 158 – 170. https://doi.org/10.1007/s10803-006-0339-z First citation in articleCrossrefGoogle Scholar

  • Kauschke, C. & Hofmeister, C. (2002). Early lexical development in German: a study on vocabulary growth and vocabulary composition during the second and third year of life. Journal of Child Language, 29, 735 – 757. https://doi.org/10.1017/s0305000902005330 First citation in articleCrossrefGoogle Scholar

  • Kent, R. D. & Vorperian, H. K. (2013). Speech impairment in Down syndrome: A review. Journal of Speech, Language, and Hearing Research, 56, 178 – 210. https://doi.org/10.1044/1092-4388(2012/12-0148) First citation in articleCrossrefGoogle Scholar

  • Lang, S., Willmes, K., Marschik, P. B., Zhang, D. & Fox-Boyer, A. (2020). Prelexical phonetic and early lexical development in German-acquiring infants: Canonical babbling and first spoken words. Clinical Linguistics & Phonetics. https://doi.org/10.1080/02699206.2020.1731606 First citation in articleGoogle Scholar

  • Laurvick, C. L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C. et al. (2006). Rett syndrome in Australia: A review of the epidemiology. Journal of Pediatrics, 148, 347 – 352. https://doi.org/10.1016/j.jpeds.2005.10.037 First citation in articleCrossrefGoogle Scholar

  • LeBarton, E. S. & Iverson, J. M. (2016). Associations between gross motor and communicative development in at-risk infants. Infant Behavior & Development, 44, 59 – 67. https://doi.org/10.1016/j.infbeh.2016.05.003 First citation in articleCrossrefGoogle Scholar

  • Lohmander, A., Holm, K., Eriksson, S. & Lieberman, M. (2017). Observation method identifies that a lack of canonical babbling can indicate future speech and language problems. Acta Paediatrica, 106, 935 – 943. https://doi.org/10.1111/apa.13816 First citation in articleCrossrefGoogle Scholar

  • Lynch, M. P., Oller, D. K., Steffens, M. L., Levine, S. L., Basinger, D. L. & Umbel, V. (1995). Onset of speech-like vocalizations in infants with Down syndrome. American Journal of Mental Retardation, 100, 68 – 86. First citation in articleGoogle Scholar

  • Mann, V. A. & Foy, J. G. (2007). Speech development patterns and phonological awareness in preschool children. Ann Dyslexia, 57 (1), 51 – 74. https://doi.org/10.1007/s11881-007-0002-1 First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B., Bartl-Pokorny, K. D., Sigafoos, J., Urlesberger, L., Pokorny, F., Didden, R. et al. (2014). Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome. Research in Developmental Disabilities, 35, 597 – 602. https://doi.org/10.1016/j.ridd.2014.01.004 First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B. & Einspieler, C. (2011). Methodological note: Video analysis of the early development of Rett syndrome–one method for many disciplines. Developmental Neurorehabilitation, 14, 355 – 357. https://doi.org/10.3109/17518423.2011.604355 First citation in articleCrossrefGoogle Scholar

  • 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 – 114. First citation in articleCrossrefGoogle Scholar

  • 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 – 961. https://doi.org/10.1007/s10803-009-0703-x First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B., Einspieler, C. & Sigafoos, J. (2012). Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception. Research in Developmental Disabilities, 33, 461 – 466. https://doi.org/10.1016/j.ridd.2011.10.007 First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B., Kaufmann, W. E., Sigafoos, J., Wolin, T., Zhang, D., Bartl-Pokorny, K. D. et al. (2013). Changing the perspective on early development of Rett syndrome. Research in Developmental Disabilities, 34, 1236 – 1239. https://doi.org/10.1016/j.ridd.2013.01.014 First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B., Pini, G., Bartl-Pokorny, K. D., Duckworth, M., Gugatschka, M., Vollmann, R. et al. (2012). Early speech-language development in females with Rett syndrome: Focusing on the preserved speech variant. Developmental Medicine and Child Neurology, 54, 451 – 456. https://doi.org/10.1111/j.1469-8749.2012.04123.x First citation in articleCrossrefGoogle Scholar

  • Marschik, P. B., Pokorny, F. B., Peharz, R., Zhang, D., O’Muircheartaigh, J., Roeyers, H. et al. (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. https://doi.org/10.1007/s11910-017-0748-8 First citation in articleGoogle Scholar

  • Marschik, P. B., Vollmann, R., Bartl-Pokorny, K. D., Green, V. A., van der Meer, L., Wolin, T. et al. (2014). Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome. Developmental Neurorehabilitation, 17, 284 – 290. https://doi.org/10.3109/17518423.2013.783139 First citation in articleCrossrefGoogle Scholar

  • Masataka, N. (2001). Why early linguistic milestones are delayed in children with Williams syndrome: Late onset of hand banging as a possible rate-limiting constraint on the emergence of canonical babbling. Dev Sci, 4, 158 – 164. First citation in articleCrossrefGoogle Scholar

  • McDaniel, J., D’Ambrose Slaboch, K. & Yoder, P. (2018). A meta-analysis of the association between vocalizations and expressive language in children with autism spectrum disorder. Research in Developmental Disabilities, 72, 202 – 213. https://doi.org/10.1016/j.ridd.2017.11.010 First citation in articleCrossrefGoogle Scholar

  • Moeller, M. P., Hoover, B., Putman, C., Arbataitis, K., Bohnenkamp, G., Peterson, B. et al. (2007). Vocalizations of infants with hearing loss compared with infants with normal hearing: part I–phonetic development. Ear and Hearing, 28, 605 – 627. https://doi.org/10.1097/AUD.0b013e31812564ab First citation in articleCrossrefGoogle Scholar

  • Moeller, M. P., Thomas, A. E., Oleson, J. & Ambrose, S. E. (2019). Validation of a parent report tool for monitoring early vocal stages in infants. Journal of Speech, Language, and Hearing Research, 62, 2245 – 2257. https://doi.org/10.1044/2019_JSLHR-S-18-0485 First citation in articleCrossrefGoogle Scholar

  • Molemans, I., van den Berg, R., van Severen, L. & Gillis, S. (2012). How to measure the onset of babbling reliably? Journal of Child Language, 39, 523 – 552. https://doi.org/10.1017/S0305000911000171 First citation in articleCrossrefGoogle Scholar

  • Morgan, L. & Wren, Y. E. (2018). A systematic review of the literature on early vocalizations and babbling patterns in young children. Communication Disorders Quarterly, 40, 3 – 14. https://doi.org/10.1177/1525740118760215 First citation in articleCrossrefGoogle Scholar

  • Nathani, S., Ertmer, D. J. & Stark, R. E. (2006). Assessing vocal development in infants and toddlers. Clinical Linguistics & Phonetics, 20, 351 – 369. https://doi.org/10.1080/02699200500211451 First citation in articleCrossrefGoogle Scholar

  • Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N. et al. (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944 – 950. https://doi.org/10.1002/ana.22124 First citation in articleCrossrefGoogle Scholar

  • Nyman, A. & Lohmander, A. (2018). Babbling in children with neurodevelopmental disability and validity of a simplified way of measuring canonical babbling ratio. Clinical Linguistics & Phonetics, 32, 114 – 127. https://doi.org/10.1080/02699206.2017.1320588 First citation in articleCrossrefGoogle Scholar

  • Oller, D. K. (1980). The emergence of sounds of speech in infancy. In G. Yeni-KomshianJ. F. KavanaghC. A. Ferguson (Eds.), Child Phonology (Vol. 1, pp. 93 – 112). New York, NY: Academic Press. First citation in articleGoogle Scholar

  • Oller, D. K. (2000). The emergence of the speech capacity. Mahwah, NJ: Lawrence Erlbaum Associates. First citation in articleCrossrefGoogle Scholar

  • Oller, D. K., Eilers, R. E., Neal, A. R. & Cobo-Lewis, A. B. (1998). Late onset canonical babbling: A possible early marker of abnormal development. American Journal of Mental Retardation, 103, 249 – 263. https://doi.org/10.1352/0895-8017(1998)103<0249:LOCBAP>2.0.CO;2 First citation in articleCrossrefGoogle Scholar

  • 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 – 245. https://doi.org/10.1016/s0021-9924(99)00013-1 First citation in articleCrossrefGoogle Scholar

  • Oller, D. K., Niyogi, P., Gray, S., Richards, J. A., Gilkerson, J., Xu, D. et al. (2010). Automated vocal analysis of naturalistic recordings from children with autism, language delay, and typical development. Proceedings of the National Academy of Sciences of the United States of America, 107, 13354 – 13359. https://doi.org/10.1073/pnas.1003882107 First citation in articleCrossrefGoogle Scholar

  • Orlandi, S., Manfredi, C., Bocchi, L. & Scattoni, M. L. (2012). Automatic newborn cry analysis: A non-invasive tool to help autism early diagnosis. Conference Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 2012, 2953 – 2956. https://doi.org/10.1109/EMBC.2012.6346583 First citation in articleGoogle Scholar

  • Overby, M., Belardi, K. & Schreiber, J. (2019). A retrospective video analysis of canonical babbling and volubility in infants later diagnosed with childhood apraxia of speech. Clinical Linguistics & Phonetics, 1 – 18. https://doi.org/10.1080/02699206.2019.1683231 First citation in articleGoogle Scholar

  • Ozonoff, S., Iosif, A.-M., Young, G. S., Hepburn, S., Thompson, M., Colombi, C. et al. (2011). Onset patterns in autism: correspondence between home video and parent report Journal of the American Academy of Child and Adolescent Psychiatry, 50, 796 – 806.e791. First citation in articleCrossrefGoogle Scholar

  • Papoušek, M. (1994). Vom ersten Schrei zum ersten Wort. Anfänge der Sprachentwicklung in der vorsprachlichen Kommunikation. Bern: Huber. First citation in articleGoogle Scholar

  • 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 – 2428. https://doi.org/10.1007/s10803-014-2047-4 First citation in articleCrossrefGoogle Scholar

  • 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 and Allied Disciplines, 52, 588 – 598. https://doi.org/10.1111/j.1469-7610.2010.02332.x First citation in articleCrossrefGoogle Scholar

  • Pokorny, F. B., Bartl-Pokorny, K. D., Einspieler, C., Zhang, D., Vollmann, R., Bölte, S. et al. (2018). Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome. Research in Developmental Disabilities, 82, 109 – 119. https://doi.org/10.1016/j.ridd.2018.02.019 First citation in articleCrossrefGoogle Scholar

  • Pokorny, F. B., Bartl-Pokorny, K. D., Zhang, D. J., Marschik, P. B., Schuller, D. & Schuller, B. W. (2020). Efficient collection and representation of preverbal data in typical and atypical development. Journal of Nonverbal Behavior, 44, 419 – 436. https://doi.org/10.1007/s10919-020-00332-4 First citation in articleCrossrefGoogle Scholar

  • 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. Proc Interspeech, 1953 – 1957. First citation in articleCrossrefGoogle Scholar

  • Pokorny, F. B., Schuller, B. W., Marschik, P. B., Brueckner, R., Nyström, P., Cummins, N. et al. (2017). Earlier identification of children with autism spectrum disorder: an automatic vocalisation-based approach. Paper presented at the Interspeech, Stockholm. First citation in articleGoogle Scholar

  • Rajaratnam, A., Shergill, J., Salcedo-Arellano, M., Saldarriaga, W., Duan, X. & Hagerman, R. (2017). Fragile X syndrome and fragile X-associated disorders. F1000Res, 6, 2112. https://doi.org/10.12688/f1000research.11885.1 First citation in articleGoogle Scholar

  • Schauwers, K., Gillis, S., Daemers, K., De Beukelaer, C. & Govaerts, P. J. (2004). Cochlear implantation between 5 and 20 months of age: The onset of babbling and the audiologic outcome. Otology & Neurotology, 25, 263 – 270. https://doi.org/10.1097/00129492-200405000-00011 First citation in articleCrossrefGoogle Scholar

  • Schramm, B., Bohnert, A. & Keilmann, A. (2009). The prelexical development in children implanted by 16 months compared with normal hearing children. International Journal of Pediatric Otorhinolaryngology, 73, 1673 – 1681. https://doi.org/10.1016/j.ijporl.2009.08.023 First citation in articleCrossrefGoogle Scholar

  • Schuller, B. (2013). Intelligent audio analysis. Berlin: Springer. First citation in articleCrossrefGoogle Scholar

  • Shehata-Dieler, W., Ehrmann-Mueller, D., Wermke, P., Voit, V., Cebulla, M. & Wermke, K. (2013). Pre-speech diagnosis in hearing-impaired infants: How auditory experience affects early vocal development. Speech, Language and Hearing, 16 (2), 99 – 106. https://doi.org/10.1179/2050571x13z.00000000011 First citation in articleCrossrefGoogle Scholar

  • Sheinkopf, S. J., Mundy, P., Oller, D. K. & Steffens, M. (2000). Vocal atypicalities of preverbal autistic children. Journal of Autism and Developmental Disorders, 30, 345 – 354. https://doi.org/10.1023/a:1005531501155 First citation in articleCrossrefGoogle Scholar

  • Sohner, L. & Mitchell, P. (1991). Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. Journal of Communication Disorders, 24, 13 – 20. https://doi.org/10.1016/0021-9924(91)90030-m First citation in articleCrossrefGoogle Scholar

  • Stark, R. E. (1980). Stages of speech development in the first year of life. In G. Yeni-KomshianJ. F. KavanaghC. A. Ferguson (Eds.), Child Phonology (Vol. 1, pp. 73 – 90). New York, NY: Academic Press. First citation in articleGoogle Scholar

  • Talbott, M. R., Nelson, C. A. & Tager-Flusberg, H. (2016). Maternal vocal feedback to 9-month-old infant siblings of children with ASD. Autism Research, 9, 460 – 470. https://doi.org/10.1002/aur.1521 First citation in articleCrossrefGoogle Scholar

  • Tarquinio, D. C., Hou, W., Neul, J. L., Kaufmann, W. E., Glaze, D. G., Motil, K. J. et al. (2015). The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatric Neurology, 53, 402 – 411. https://doi.org/10.1016/j.pediatrneurol.2015.06.003 First citation in articleCrossrefGoogle Scholar

  • Tenenbaum, E. J., Carpenter, K. L. H., Sabatos-DeVito, M., Hashemi, J., Vermeer, S., Sapiro, G. et al. (2020). A six-minute measure of vocalizations in toddlers with Autism Spectrum Disorder. Autism Research, 13, 1373 – 1382. https://doi.org/10.1002/aur.2293 First citation in articleCrossrefGoogle Scholar

  • Urbanowicz, A., Downs, J., Girdler, S., Ciccone, N. & Leonard, H. (2015). Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. American Journal of Medical Genetics. Part A, 167 A (2), 354 – 362. https://doi.org/10.1002/ajmg.a.36871 First citation in articleCrossrefGoogle Scholar

  • Velleman, S. L., Currier, A., Caron, T. & Curley, A. (2006, 31 May – 3 June). Phonological development in Williams syndrome. Paper presented at the Annual meeting of the ICPLA, Dubrovnik, Croatia. First citation in articleGoogle Scholar

  • Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A. et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905 – 914. https://doi.org/10.1016/0092-8674(91)90397-h First citation in articleCrossrefGoogle Scholar

  • Vihman, M. M. (2014). Phonological development: the first two years (2nd ed.). Malden, MA: Wiley-Blackwell. First citation in articleGoogle Scholar

  • Werner, E. & Dawson, G. (2005). Validation of the phenomenon of autistic regression using home videotapes. Archives of General Psychiatry, 62, 889 – 895. First citation in articleCrossrefGoogle Scholar

  • 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 – 162. https://doi.org/10.1023/a:1005463707029 First citation in articleCrossrefGoogle Scholar

  • Xu, D., Gilkerson, J., Richards, J., Yapanel, U. & Gray, S. (2009). Child vocalization composition as discriminant information for automatic autism detection. Conference Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 2009, 2518 – 2522. https://doi.org/10.1109/IEMBS.2009.5334846 First citation in articleGoogle Scholar

  • Xu, D., Gilkerson, J. & Richards, J. A. (2012). Objective child behavior measurement with naturalistic daylong audio recording and its application to autism identification. Conference Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 2012, 3708 – 3711. https://doi.org/10.1109/embc.2012.6346772 First citation in articleGoogle Scholar

  • Yankowitz, L. D., Schultz, R. T. & Parish-Morris, J. (2019). Pre- and paralinguistic vocal production in ASD: Birth through school age. Current Psychiatry Reports, 21, 126. https://doi.org/10.1007/s11920-019-1113-1 First citation in articleGoogle Scholar

  • Zablotsky, B., Black, L. I., Maenner, M. J., Schieve, L. A. & Blumberg, S. J. (2015). Estimated prevalence of autism and other developmental disabilities following questionnaire changes in the 2014 National Health Interview Survey. National health statistics reports, 87, 1 – 20. First citation in articleGoogle Scholar

  • Zhang, D., Krieber-Tomantschger, I., Poustka, L., Roeyers, H., Sigafoos, J., Bölte, S. et al. (2019). Identifying atypical development: A role of day-care workers? Journal of Autism and Developmental Disorders, 49, 3685 – 3694. https://doi.org/10.1007/s10803-019-04056-3 First citation in articleCrossrefGoogle Scholar