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06-01-2018 | Original Paper

Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome

Auteurs: Bonita P. Klein-Tasman, Carolyn B. Mervis

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2018

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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.
Literatuur
go back to reference Achenbach, T. M., & Rescorla, L. A. (2001). Manual for the ASEBA school-age forms and profiles. Burlington, VT: University of Vermont. Achenbach, T. M., & Rescorla, L. A. (2001). Manual for the ASEBA school-age forms and profiles. Burlington, VT: University of Vermont.
go back to reference 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.PubMed 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.PubMed
go back to reference American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders: DSM-5. Washington, DC: Author.CrossRef American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders: DSM-5. Washington, DC: Author.CrossRef
go back to reference Belmonte, M. K., & Bourgeron, T. (2006). Fragile X syndrome and autism at the intersection of genetic and neural networks. Nature Neuroscience, 9, 1221–1225.CrossRefPubMed Belmonte, M. K., & Bourgeron, T. (2006). Fragile X syndrome and autism at the intersection of genetic and neural networks. Nature Neuroscience, 9, 1221–1225.CrossRefPubMed
go back to reference Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. British Journal of Psychiatry, 175, 444–451.CrossRefPubMed Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. British Journal of Psychiatry, 175, 444–451.CrossRefPubMed
go back to reference Bruininks, R. H., Woodcock, R. W., Weatherman, R. F., & Hill, B. K. (1996). Scales of Independent Behavior—Revised. Itasca, IL: Riverside Publishing. Bruininks, R. H., Woodcock, R. W., Weatherman, R. F., & Hill, B. K. (1996). Scales of Independent Behavior—Revised. Itasca, IL: Riverside Publishing.
go back to reference Dunn, L. M., & Dunn, D. M. (2007). Peabody Picture Vocabulary Test-4. Minneapolis, MN: Pearson. Dunn, L. M., & Dunn, D. M. (2007). Peabody Picture Vocabulary Test-4. Minneapolis, MN: Pearson.
go back to reference Elliott, C. D. (2007). Differential ability scales (2nd edn.). San Antonio, TX: Psychological Corporation. Elliott, C. D. (2007). Differential ability scales (2nd edn.). San Antonio, TX: Psychological Corporation.
go back to reference Happé, F., Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for autism. Nature Neuroscience, 9, 1218–1220CrossRefPubMed Happé, F., Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for autism. Nature Neuroscience, 9, 1218–1220CrossRefPubMed
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference IBM Corp (2016). IBM SPSS Statistics for Windows, Version 24.0. Armonk, NY: IBM Corp. IBM Corp (2016). IBM SPSS Statistics for Windows, Version 24.0. Armonk, NY: IBM Corp.
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
go back to reference 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., & Risi, S. (1999). Autism diagnostic observation schedule (ADOS) manual. Los Angeles, CA: Western Psychological Services.
go back to reference 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., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. L. (2012). Autism diagnostic observation schedule (2nd edn.). Los Angeles, CA: Western Psychological Services.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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. 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.
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference Rutter, M., Bailey, A., & Lord, C. (2003). Social communication questionnaire. Los Angeles: Western Psychological Services. Rutter, M., Bailey, A., & Lord, C. (2003). Social communication questionnaire. Los Angeles: Western Psychological Services.
go back to reference Silverman, W. K., & Albano, A. M. (1996). The anxiety disorders interview schedule for DSM-IV: Parent interview schedule. San Antonio, TX: Psychological Corporation. Silverman, W. K., & Albano, A. M. (1996). The anxiety disorders interview schedule for DSM-IV: Parent interview schedule. San Antonio, TX: Psychological Corporation.
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
go back to reference 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. 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.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference Williams, K. T. (2007). Expressive Vocabulary Test-2. Minneapolis, MN: Pearson. Williams, K. T. (2007). Expressive Vocabulary Test-2. Minneapolis, MN: Pearson.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
Metagegevens
Titel
Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome
Auteurs
Bonita P. Klein-Tasman
Carolyn B. Mervis
Publicatiedatum
06-01-2018
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 6/2018
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-017-3439-z

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