Abstract
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863��885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
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References
Achenbach, T. M., & Rescorla, L. A. (2001). Manual for the ASEBA school-age forms and profiles. Burlington, VT: University of Vermont.
Aman, M. G., Singh, N. N., Stewart, A. W., & Field, C. J. (1985). Psychometric characteristics of the Aberrant Behavior Checklist. American Journal of Mental Deficiency, 89, 492–502.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders: DSM-5. Washington, DC: Author.
Belmonte, M. K., & Bourgeron, T. (2006). Fragile X syndrome and autism at the intersection of genetic and neural networks. Nature Neuroscience, 9, 1221–1225.
Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S. H., Fong, C. T., Salamone, J. … Cheung, S. W. (2007). Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetics in Medicine, 9, 427–441. https://doi.org/10.1097/GIM.0b013e3180986192.
Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. British Journal of Psychiatry, 175, 444–451.
Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Research, 1380, 42–77. https://doi.org/10.1016/j.brainres.2010.11.078.
Bruininks, R. H., Woodcock, R. W., Weatherman, R. F., & Hill, B. K. (1996). Scales of Independent Behavior—Revised. Itasca, IL: Riverside Publishing.
Budimirovic, D. B., & Kaufmann, W. E. (2011). What can we learn about autism from studying fragile X syndrome? Developmental Neuroscience, 33, 379–394. https://doi.org/10.1159/000330213.
Crespi, B. J., & Procyshyn, T. L. (2017). Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia. Neuroscience and Biobehavioral Reviews, 79, 14–26. https://doi.org/10.1016/j.neubiorev.2017.05.004.
Daniels, A. M., & Mandell, D. S. (2014). Explaining differences in age at autism spectrum disorder diagnosis: A critical review. Autism: The International Journal of Research and Practice, 18, 583–597. https://doi.org/10.1177/1362361313480277.
Dixit, A., McKee, S., Mansour, S., Mehta, S. G., Tanteles, G. A., Anastasiadou, V. … Sarkar, A (2013). 7q11.23 microduplication: A recognizable phenotype. Clinical Genetics, 83, 155–161. https://doi.org/10.1111/j.1399-0004.2012.01862.x.
Dunn, L. M., & Dunn, D. M. (2007). Peabody Picture Vocabulary Test-4. Minneapolis, MN: Pearson.
Dykens, E. M., Roof, E., Hunt-Hawkins, H., Dankner, N., Lee, E. B., Shivers, C. M. … Kim, S. J. (2017). Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. Journal of Neurodevelopmental Disorders. https://doi.org/10.1186/s11689-017-9200-2.
Elliott, C. D. (2007). Differential ability scales (2nd edn.). San Antonio, TX: Psychological Corporation.
Fombonne, E. (2009). Epidemiology of pervasive developmental disorders. Pediatric Research, 65, 591–598. https://doi.org/10.1203/PDR.0b013e31819e7203.
Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Sciences, 15, 409–416. https://doi.org/10.1016/j.tics.2011.07.003.
Gotham, K., Pickles, A., & Lord, C. (2009). Standardizing ADOS scores for a measure of severity in autism spectrum disorders. Journal of Autism and Developmental Disorders, 39, 693–705. https://doi.org/10.1007/s10803-008-0674-3.
Gotham, K., Risi, S., Pickles, A., & Lord, C. (2007). The autism diagnostic observation schedule: Revised algorithms for improved diagnostic validity. Journal of Autism and Developmental Disorders, 37, 613–627. https://doi.org/10.1007/s10803-006-0280-1.
Halladay, A. K., Bishop, S., Constantino, J. N., Daniels, A. M., Koenig, K., Palmer, K. … Szatmari, P. (2015). Sex and gender differences in autism spectrum disorder: Summarizing evidence gaps and identifying emerging areas of priority. Molecular Autism. https://doi.org/10.1186/s13229-015-0019-y.
Happé, F., Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for autism. Nature Neuroscience, 9, 1218–1220
Howlin, P., & Asgharian, A. (1999). The diagnosis of autism and Asperger syndrome: Findings from a survey of 770 families. Developmental Medicine and Child Neurology, 41, 834–839.
IBM Corp (2016). IBM SPSS Statistics for Windows, Version 24.0. Armonk, NY: IBM Corp.
Jónsdóttir, S. L., Saemundsen, E., Antonsdóttir, I. S., Sigurdardóttir, S., & Ólason, D. (2011). Children diagnosed with autism spectrum disorder before or after the age of 6 years. Research in Autism Spectrum Disorders, 5, 175–184. https://doi.org/10.1016/j.rasd.2010.03.007.
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.
Klein-Tasman, B. P., Mervis, C. B., Lord, C. E., & 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.
Klein-Tasman, B. P., Phillips, K. D., Lord, C., Mervis, C. B., & Gallo, F. G. (2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of Developmental and Behavioral Pediatrics, 30, 289–299.
Levy, D., Ronemus, M., Yamrom, B., Lee, Y. H., Leotta, A., Kendall, J. … Wigler, M. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70, 886–897. https://doi.org/10.1016/j.neuron.2011.05.015.
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.
Lord, C., Rutter, M., DiLavore, P., & Risi, S. (1999). Autism diagnostic observation schedule (ADOS) manual. Los Angeles, CA: Western Psychological Services.
Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. L. (2012). Autism diagnostic observation schedule (2nd edn.). Los Angeles, CA: Western Psychological Services.
Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.
Malenfant, P., Liu, X., Hudson, M. L., Qiao, Y., Hrynchak, M., Riendeau, N. … Holden, J. J. (2012). Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42, 1459–1469. https://doi.org/10.1007/s10803-011-1389-4.
Mandell, D. S., Novak, M. M., & Zubritsky, C. D. (2005). Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics,. 116, 1480–1486.
McGrew, S. G., Peters, B. R., Crittendon, J. A., & Veenstra-Vanderweele, J. (2012). Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: Which guidelines to implement? Journal of Autism and Developmental Disorders, 42, 1582–1591. https://doi.org/10.1007/s10803-011-1398-3.
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.
Morris, C. A., Mervis, C. B., Paciorkowski, A. P., Abdul-Rahman, O., Dugan, S. L., Rope, A. F. … Osborne, L. R. (2015). 7q11.23 duplication syndrome: Physical characteristics and natural history. American Journal of Medical Genetics Part A, 167, 2916–2935. https://doi.org/10.1002/ajmg.a.37340.
Persico, A. M., & Bourgeron, T. (2006). Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends in Neurosciences, 29, 349–358.
Picci, G., & Scherf, K. S. (2015). A two-hit model of autism: Adolescence as the second hit. Clinical Psychological Science, 3, 349–371. https://doi.org/10.1177/2167702614540646.
Ronald, A., Happe, F., Price, T. S., Baron-Cohen, S., & Plomin, R. (2006). Phenotypic and genetic overlap between autistic traits at the extremes of the general population. Journal of the American Academy of Child and Adolescent Psychiatry, 45, 1206–1214. https://doi.org/10.1097/01.chi.0000230165.54117.41.
Rutter, M., Bailey, A., & Lord, C. (2003). Social communication questionnaire. Los Angeles: Western Psychological Services.
Sanders, S. J., Ercan-Sencecek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D. … State, M. W. (2011b). Supplemental materials. Neuron. https://doi.org/10.1016/j.neuron.2011.05.002. Retrieved from http://www.sciencedirect.com/science/article/pii/S0896627311003746.
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D. … State, M. W. (2011a). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70, 863–885. https://doi.org/10.1016/j.neuron.2011.05.002.
Silverman, W. K., & Albano, A. M. (1996). The anxiety disorders interview schedule for DSM-IV: Parent interview schedule. San Antonio, TX: Psychological Corporation.
Somerville, M. J., Mervis, C. B., Young, E. J., Seo, E. J., del Campo, M., Bamforth, S. … Osborne, L. R. (2005). Severe expressive-language delay related to duplication of the Williams-Beuren locus. The New England Journal of Medicine, 353, 1694–1701.
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.
Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M. … Kooy, R. F. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52, 94–100. https://doi.org/10.1016/j.ejmg.2009.02.006.
van der Fluit, F. (2014). Autism Spectrum Disorder symptomatology in verbal children with Williams syndrome (Dissertation). Retrieved from UWM Digital Commons (Number 772). http://dc.uwm.edu/etd/772.
Werling, D. M., & Geschwind, D. H. (2013). Understanding sex bias in autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America, 110, 4868–4869. https://doi.org/10.1073/pnas.1301602110.
Wiggins, L. D., Baio, J., & Rice, C. (2006). Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S79–S87.
Williams, K. T. (2007). Expressive Vocabulary Test-2. Minneapolis, MN: Pearson.
Wing, L., & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. Journal of Autism and Developmental Disorders, 9, 11–29.
Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K. … Wigler, M. (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences of the United States of America, 104, 12831–12836.
Acknowledgements
This project was supported by a grant from the Simons Foundation (SFARI award #238896). We would like to thank the children and parents who participated in this study; their generosity made this research possible. We also would like to thank Kristin Smith, Brianna Yund, and the members of the Neurodevelopmental Sciences Laboratory (especially C. Holley Pitts) for assistance with data collection and statistical analyses.
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BPKT and CBM conceptualized and designed the study. CBM coordinated participant recruitment, conducted the adaptive behavior interviews, and supervised the intellectual and language testing. BPKT conducted and/or oversaw all ASD-related assessments and the ADIS-P interviews. BPKT conducted the analyses and BPKT and CBM worked together on interpretation of the results. BPKT drafted the manuscript which was reviewed and edited together with CBM. Both authors read and approved the final manuscript.
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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.
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Klein-Tasman, B.P., Mervis, C.B. Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome. J Autism Dev Disord 48, 1982–1994 (2018). https://doi.org/10.1007/s10803-017-3439-z
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DOI: https://doi.org/10.1007/s10803-017-3439-z