Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.
KeywordsWilliams syndrome Intellectual disability Autism spectrum disorders Social communication
Many of the participants in this study also were included in FvdF’s dissertation research. This research was supported by grants NIMH R03 MH069400, a University of Wisconsin—Milwaukee Graduate School Research Committee Award, and Williams Syndrome Association (WSA) 0110 (to BPKT) and by grant R01 NS35102 from the National Institute of Neurological Disorders and Stroke, grant R37 HD29957 from the National Institute of Child Health and Human Development, and grants WSA 0104 and WSA 0111 from the Williams Syndrome Association (to CBM). We would like to thank the children and parents who participated in this study; their generosity made this research possible. We also thank the Williams Syndrome Association for facilitating our research. We are grateful to Rebecca McNally, who administered most of the ADOS protocols to the children tested at the University of Louisville.
BPKT and CBM conceptualized and designed the study, coordinated participant recruitment, and supervised the intellectual assessments. BPKT conducted and/or oversaw the ADOS assessments. BPKT and FvdF conducted the analyses and BPKT and CBM worked together on interpretation of the results. FvdF drafted the manuscript which was reviewed and edited by BPKT and CBM. All authors read and approved the final manuscript.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflicts of interest to report.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
- Becerra, A. M. (2016). Patterns of early lexical and gestural development in children with Williams syndrome. (Doctoral dissertation). Retrieved from http://ir.library.louisville.edu/etd/2407/.
- Bishop, D. V. M., & Norbury, C. F. (2002). Exploring the borderlands of autistic disorder and specific language impairment: A study using standardized diagnostic instruments. Journal of Child Psychology and Psychiatry, 43, 917–929. https://doi.org/10.1111/1469-7610.00114.CrossRefPubMedGoogle Scholar
- Bloom, P. (2017). Comment on back cover of J. Latson (2017), The boy who loved too much: A true story of pathological friendliness. New York: Simon & Schuster.Google Scholar
- Constantino, J. N., & Gruber, C. P. (2005). Manual for Social Responsiveness Scale. Los Angeles: Western Psychological Services.Google Scholar
- Gosch, A., & Pankau, R. (1997). Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Developmental Medicine & Child Neurology, 39, 527–533. https://doi.org/10.1111/j.1469-8749.1997.tb07481.x.CrossRefGoogle Scholar
- Gotham, K., Risi, S., Dawson, G., Tager-Flusberg, H., Joseph, R., Carter, A., … Lord, C. (2008). A replication of the autism diagnostic observation schedule (ADOS) revised algorithm. Journal of the American Academy of Child and Adolescent Psychiatry, 47, 642–651. https://doi.org/10.1097/CHI.0b013e31816bffb7.CrossRefPubMedPubMedCentralGoogle Scholar
- IBM Corp (2016). IBM SPSS statistics for Windows, version 24.0. Armonk, NY: IBM Corp.Google Scholar
- Janes, E., Riby, D. M., & Rodgers, J. (2014). Exploring the prevalence and phenomenology of repetitive behaviours and abnormal sensory processing in children with Williams syndrome. Journal of Intellectual Disability Research, 58, 746–757. https://doi.org/10.1111/jir.12086.CrossRefPubMedGoogle Scholar
- John, A. E., & Mervis, C. B. (2010a). Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome. Journal of Speech, Language, and Hearing Research, 53, 950–960. https://doi.org/10.1044/1092-4388(2009/08-0234).CrossRefPubMedPubMedCentralGoogle Scholar
- John, A. E., Rowe, M. L., & Mervis, C. B. (2009). Referential communication skills of children with Williams syndrome: Understanding when messages are not adequate. American Journal on Intellectual and Developmental Disabilities, 114, 85–99. https://doi.org/10.1352/2009.114.85-99.CrossRefPubMedPubMedCentralGoogle Scholar
- Kaufman, A. S., & Kaufman, N. L. (1990). Kaufman Brief Intelligence Test. Circle Pines, MN: American Guidance Services.Google Scholar
- Klein-Tasman, B. P., Li-Barber, K. T., & Magargee, E. T. (2011). Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. Journal of Autism and Developmental Disorders, 41, 341–351. https://doi.org/10.1007/s10803-010-1060-5.CrossRefPubMedPubMedCentralGoogle Scholar
- Klein-Tasman, B. P., Mervis, C. B., Lord, C., & Phillips, K. D. (2007). Socio-communicative deficits in young children with Williams syndrome: Performance on the Autism Diagnostic Observation Schedule. Child Neuropsychology, 13, 444–467. https://doi.org/10.1080/09297040601033680.CrossRefPubMedGoogle Scholar
- Klein-Tasman, B. P., Phillips, K. D., Lord, C., Mervis, C. B., & Gallo, F. J. (2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of Developmental and Behavioral Pediatrics, 30, 289–299. https://doi.org/10.1097/DBP.0b013e3181ad1f9a.CrossRefPubMedPubMedCentralGoogle Scholar
- Laing, E., Butterworth, G., Ansari, D., Gsödl, M., Longhi, E., Panagiotaki, G., ... Karmiloff-Smith, A. (2002). Atypical development of language and social communication in toddlers with Williams syndrome. Developmental Science, 5, 233–246. https://doi.org/10.1111/1467-7687.00225.CrossRefGoogle Scholar
- Laws, G., & Bishop, D. V. M. (2004). Pragmatic language impairment and social deficits in Williams syndrome: A comparison with Down’s syndrome and specific language impairment. International Journal of Language & Communication Disorders, 39, 45–64. https://doi.org/10.1080/13682820310001615797.CrossRefGoogle Scholar
- Lincoln, A. J., Searcy, Y. M., Jones, W., & Lord, C. (2007). Social interaction behaviors discriminate young children with autism and Williams syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 46, 323–331. https://doi.org/10.1097/chi.0b013e31802b9522.CrossRefPubMedGoogle Scholar
- Lord, C., Rutter, M., DiLavore, P., & Risi, S. (1999). Autism Diagnostic Observation Schedule (ADOS) manual. Los Angeles: Western Psychological Services.Google Scholar
- Martens, M. A., Wilson, S. J., & Reutens, D. C. (2008). Research review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49, 576–608. https://doi.org/10.1111/j.1469-7610.2008.01887.x.CrossRefPubMedGoogle Scholar
- Mervis, C. B., & Bertrand, J. (1993). Acquisition of early object labels: The roles of operating principles and input. In A. Kaiser & D. B. Gray (Eds.), Enhancing children’s communication: Research foundations for intervention (pp. 287–316). Baltimore: Brookes.Google Scholar
- Mervis, C. B., & Bertrand, J. (1997). Developmental relations between cognition and language: Evidence from Williams syndrome. In L. B. Adamson & M. A. Romski (Eds.), Communication and language acquisition: Discoveries from atypical development (pp. 75–106). New York: Brookes.Google Scholar
- Mervis, C. B., Klein-Tasman, B. P., Huffman, M. J., Velleman, S. L., Pitts, C. H., Henderson, D. R. … Osborne, L. R. (2015). Children with 7q11.23 duplication syndrome: Psychological characteristics. American Journal of Medical Genetics Part A, 167, 1436–1450. https://doi.org/10.1002/ajmg.a.37071.CrossRefPubMedPubMedCentralGoogle Scholar
- Mervis, C. B., Morris, C. A., Klein-Tasman, B. P., Bertrand, J., Kwinty, S., Appelbaum, L. G., & Rice, C. E. (2003). Attentional characteristics of infants and toddlers with Williams syndrome during triadic interactions. Developmental Neuropsychology, 23, 243–268. https://doi.org/10.1080/87565641.2003.9651894.CrossRefPubMedGoogle Scholar
- Ng, R., Järvinen, A., & Bellugi, U. (2014). Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive. Research in Developmental Disabilities, 35, 1838–1849. https://doi.org/10.1016/j.ridd.2014.04.015.CrossRefPubMedPubMedCentralGoogle Scholar
- Noterdaeme, M., Sitter, S., Mildenberger, K., & Amorosa, H. (2000). Diagnostic assessment of communicative and interactive behaviours in children with autism and receptive language disorder. European Journal of Child and Adolescent Psychiatry, 9, 295–300. https://doi.org/10.1007/s007870070.CrossRefGoogle Scholar
- Philofsky, A., Fidler, D. J., & Hepburn, S. (2007). Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. American Journal of Speech-Language Pathology, 16, 368–380. https://doi.org/10.1044/1058-0360(2007/040).CrossRefPubMedPubMedCentralGoogle Scholar
- Royston, R., Howlin, P., Waite, J., & Oliver, C. (2017). Anxiety disorders in Williams syndrome contrasted with intellectual disability and the general population: A systematic review and meta-analysis. Journal of Autism and Developmental Disorders, 47, 3765–3777. https://doi.org/10.1007/s10803-016-2909-z.CrossRefPubMedGoogle Scholar
- Royston, R., Oliver, C., Moss, J., Adams, D., Berg, K., Burbidge, C., ... Waite, J. (2018). Repetitive behavior profiles in Williams syndrome: Cross syndrome comparisons with Prader-Willi and Down syndromes. Journal of Autism and Developmental Disorders, 48, 326–331. https://doi.org/10.1007/s108303-017-3319-6.CrossRefPubMedGoogle Scholar
- Rutter, M., Le Couteur, A., & Lord, C. (2003). Autism Diagnostic Interview-Revised. Los Angeles: Western Psychological Services.Google Scholar
- Semel, E., & Rosner, S. R. (2003). Understanding Williams syndrome: Behavioural patterns and interventions. London: Erlbaum.Google Scholar
- Strong, E., Butcher, D. T., Singhania, R., Mervis, C. B., Morris, C. A., De Carvalho, D. … Osborne, L. R. (2015). Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. American Journal of Human Genetics, 97, 216–227. https://doi.org/10.1016/j.ajhg.2015.05.019.CrossRefPubMedPubMedCentralGoogle Scholar
- Tordjman, S., Anderson, G. M., Botbol, M., Toutain, A., Sarda, P., Carlier, M., … Verloes, A. (2012). Autistic disorder in patients with Williams-Beuren syndrome: A reconsideration of the Williams-Beuren syndrome phenotype. PLoS ONE, 7(3), e30778. https://doi.org/10.1371/journal.pone.0030778.CrossRefPubMedPubMedCentralGoogle Scholar