Abstract
This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first 2 years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies) and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings. This overview supports the use of RVA in analysing the early development of vocalisations in children later diagnosed with ASD, RTT, or FXS and provides an in-depth analysis of vocalisation presentation, complex vocalisation production, and the rate and/or frequency of vocalisation production across the three disorders. Implications are discussed in terms of extending crude vocal analyses to more precise methods that might provide more powerful means by which to discriminate between disorders during early development. A greater understanding of the early manifestation of these disorders may then lead to improvements in earlier detection.
Similar content being viewed by others
References
*Studies included in the overview
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.) (DSM-5®). Washington, DC: American Psychiatric Association.
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, 185–188.
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, 29–39.
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, 527–533.
Baranek, G. T. (1999). Autism during infancy: a retrospective video analysis of sensory-motor and social behaviors at 9–12 months of age. Journal of Autism and Developmental Disorders, 29, 213–224.
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 9–12 months of age. Journal of Autism and Developmental Disorders, 35, 645–656.
*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, 3133–3138.
*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 9–12 months of age. Journal of Autism and Developmental Disorders, 47, 1193–1206.
Bölte, 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, 341–348.
Bölte, 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, 137–144.
*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, 285–295.
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.
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.
Chericoni, N., De Brito Wanderley, D., Costanzo, V., Diniz-Gonçalves, A., Gille, M. L., Parlato, E., et al. (2016). Pre-FVm. Frontiers in Psychology, 7, 1595.
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, 791–805.
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 ‘high risk’ sibling studies. Neuroscience & Biobehavioral Reviews, 55, 627–635.
Crawford, D. C., Acuña, 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, 359–371.
Dawson, G., & Bernier, R. (2013). A quarter century of progress on the early detection and treatment of autism spectrum disorder. Development and Psychopathology, 25, 1455–1472.
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), 696–700.
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–S13.
Einspieler, C., Sigafoos, J., Bartl-Pokorny, K. D., Landa, R., Marschik, P. B., & Bölte, S. (2014). Highlighting the first 5 months of life: general movements in infants later diagnosed with autism spectrum disorder or Rett syndrome. Research in Autism Spectrum Disorders, 8, 286–291.
Einspieler, C., Freilinger, M., & Marschik, P. B. (2016). Behavioural biomarkers of typical Rett syndrome: moving towards early identification. Wiener Medizinische Wochenschrift, 166, 333–337.
*Eriksson, A. S., & de Chateau, P. (1992). Brief report: a girl aged 2 years and seven months with autistic disorder videotaped from birth. Journal of Autism and Developmental Disorders, 22, 127–129.
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, 240–247.
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.
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, 1136–1146.
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 years. Journal of Child Psychology and Psychiatry, 58, 1330–1340.
Hagberg, B., & Anvret, M. (1993). Rett syndrome—clinical and biological aspects: studies on 130 Swedish females (no. 127). Cambridge: Cambridge University Press.
Hagberg, B., & Witt-Engerström, I. (1987). Rett syndrome: epidemiology and nosology—progress in knowledge 1986—a conference communication. Brain and Development, 9, 451–457.
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. 206–248). Baltimore: Johns Hopkins University Press.
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, 58–66.
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, 1–33.
Karmiloff, K., & Karmiloff-Smith, A. (2009). Pathways to language from fetus to adolescent. Cambridge, MA: Harvard University Press.
Leonard, H., & Bower, C. B. (1998). Is the girl with Rett syndrome normal at birth? Developmental Medicine & Child Neurology, 40, 115–121.
Locke, J. L. (1995). The child’s pathway to spoken language (2nd ed.). Cambridge, MA: Harvard University Press.
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.
*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 years of life through home movies. Psychopathology, 34, 147–152.
*Maestro, S., Muratori, F., Cavallaro, M. C., Pei, F., Stern, D., Golse, B., & Palacio-Espasa, F. (2002). Attentional skills during the first 6 months of age in autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 41, 1239–1245.
*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, 383–396.
*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, 500–504.
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.
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.
*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.
*Marschik, P. B., Pini, G., Bartl-Pokorny, K. D., Duckworth, M., Gugatschka, M., Vollmann, R., ... & Einspieler, C. (2012a). Early speech–language development in females with Rett syndrome: focusing on the preserved speech variant. Developmental Medicine & Child Neurology, 54, 451–456.
*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, 1749–1756.
*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, 1236–1239.
*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, 34–38.
*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, 284–290.
*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, 597–602.
Marschik, P. B., Pokorny, F. B., Peharz, R., Zhang, D., O’Muircheartaigh, 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.
McCune, L., & Vihman, M. M. (2001). Early phonetic and lexical development: a productivity approach. Journal of Speech, Language, and Hearing Research, 44, 670–684.
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, 944–950.
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. 93–112). New York: Academic Press.
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.
*Osterling, J. A., Dawson, G., & Munson, J. A. (2002). Early recognition of 1 year old infants with autism spectrum disorder versus mental retardation. Journal of Developmental Psychopathology, 14, 239–251.
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, 488–495.
Palomo, R., Belinchón, M., & Ozonoff, S. (2006). Autism and family home movies: a comprehensive review. Journal of Developmental & Behavioral Pediatrics, 27, S59–S68.
*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.
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, 588–598.
*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, 1953–1957.
*Receveur, C., Lenoir, P., Desombre, H., Roux, S., & Malvy, J. (2005). Interaction and imitation deficits from infancy to 4 years of age in children with autism: a pilot study based on videotapes. Autism, 9, 69–82.
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, 208–216.
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, 77–86.
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, 338–344.
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. 73–95). New York: Academic Press.
Tager-Flusberg, H., & Caronna, E. (2007). Language disorders: autism and other pervasive developmental disorders. Pediatric Clinics of North America, 54, 469–481.
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, 585–591.
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, 1047–1058.
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, 362–376.
*Werner, E., & Dawson, G. (2005). Validation of the phenomenon of autistic regression using home videotapes. Archives of General Psychiatry, 62, 889–895.
*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.
*Zappella, M., Einspieler, C., Bartl-Pokorny, K. D., Krieber, M., Coleman, M., Bölte, 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—an exploratory study. Early Human Development, 91, 569–575.
Zhang, D., Kaufmann, W. E., Sigafoos, J., Bartl-Pokorny, K. D., Krieber, M., Marschik, P. B., & Einspieler, C. (2017). Parents’ initial concerns about the development of their children later diagnosed with fragile X syndrome. Journal of Intellectual & Developmental Disability, 42, 114–122.
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, 1383–1391.
Zwaigenbaum, L., Bryson, S., & Garon, N. (2013). Early identification of autism spectrum disorders. Behavioural Brain Research, 251, 133–146.
Acknowledgements
This overview was supported by the Austrian Science Fund (FWF; P25241 and TCS 24), the Austrian National Bank (OeNB; 16430), the Brain, Ears & Eyes – Pattern Recognition Initiative (BEE-PRI; BioTechMed-Graz), and LR was supported by the Ernst Mach grant (OeAD).
Author information
Authors and Affiliations
Contributions
LR was the primary author of the manuscript; she implemented the original literature search, and collated and analysed the data from all of the included studies. DZ provided edits and insight into the formation of the draft and final manuscript. KBP and FP provided edits on the draft of manuscript and reliability checks on all of the included articles. BWS provided expertise in the field of early vocalisation analysis and speech processing as well as edits on the draft of manuscript. GE provided expertise on early vocal development in autism spectrum disorders and edits on the manuscript draft. SB provided edits on the definitions, diagnoses, and features of the included neurodevelopmental disorders. HR provided expertise on neurodevelopmental disorders in general and edits on the draft of manuscript. LP provided expertise in the field of autism spectrum disorders and final edits on the manuscript. MG provided expertise from a phoniatric point of view and edits on the draft of manuscript, and HW conducted reliability checks on features of chosen articles for inclusion. RV provided expertise from a linguistic point of view and edits on the draft. CE provided expertise in the field of Rett syndrome and edits on the draft manuscript, and PBM provided insight into the formation of the draft and edits on the final manuscript.
Corresponding author
Rights and permissions
About this article
Cite this article
Roche, L., Zhang, D., Bartl-Pokorny, K.D. et al. Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies Using Retrospective Video Analysis. Adv Neurodev Disord 2, 49–61 (2018). https://doi.org/10.1007/s41252-017-0051-3
Published:
Issue Date:
DOI: https://doi.org/10.1007/s41252-017-0051-3