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Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics

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Abstract

The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η2 = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸc = 0.41) and ASD symptomatology (η2 = 0.11) were more comparable for children with ASD+DS and ASD + ID than for individuals with ID. Individuals with ASD+DS had the lowest overall adaptive skills (η2 = 0.11). Findings highlight similarities between ASD+DS and ASD+ID groups, emphasizing the importance of ASD identification within the DS population to provide access to specific interventions.

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References

  • Achenbach, T., & Rescorla, L. (2001). Child behavior checklist. ASEBA.

    Google Scholar 

  • Aman, M., Singh, N., Stewart, A., & Field, C. (1985). The aberrant behavior checklist: A behavior rating scale for the assessment of treatment effects. American Journal of Mental Deficiency, 89, 485–491

    PubMed  Google Scholar 

  • American Psychiatric Association. (2000). Diagnostic and statistical manal of mental disorders: DSM-IV-TR. American Psychiatric Association.

    Google Scholar 

  • Barbaro, J., & Dissanayake, C. (2012). Developmental profiles of infants and toddlers with autism spectrum disorders identified prospectively in a community-based setting. Journal of Autism and Developmental Disorders, 42(9), 1939–1948. https://doi.org/10.1007/s10803-012-1441-z

    Article  PubMed  Google Scholar 

  • Bodfish, J. W., Symons, F. J., Parker, D. E., & Lewis, M. H. (2000). Varieties of repetitive behavior in autism: Comparisons to mental retardation. Journal of Autism and Developmental Disorders, 30, 237–243. https://doi.org/10.1023/A:1005596502855

    Article  PubMed  Google Scholar 

  • Brereton, A., Tonge, B., & Einfeld, S. (2006). Psychopathology in children and adolescents with autism compared to young people with intellectual disability. Journal of Autism and Developmental Disorders, 36, 863–870. https://doi.org/10.1007/s10803-006-0125-y

    Article  PubMed  Google Scholar 

  • Burbridge, C., Oliver, C., Moss, J., Arron, K., Berg, K., Hill, L., Trusler, K., & Furniss, F. (2010). The association between repetitive behaviors, impulsivity, and hyperactivity in people with intellectual disability. Journal of Intellectual Disability Research, 54, 1078–1092

    Article  Google Scholar 

  • Capone, G. T., Grados, M. A., Kaufmann, W. E., Bernad-Ripoll, S., & Jewell, A. (2005). Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist. American Journal of Medical Genetics Part A, 134(4), 373–380. https://doi.org/10.1002/ajmg.a.30622

    Article  PubMed  Google Scholar 

  • Carter, J. C., Capone, G. T., Gray, R. M., Cox, C. S., & Kaufmann, W. E. (2007). Autistic-spectrum disorders in Down syndrome: Further delineation and distinction from other behavioral abnormalities. American Journal of Medical Genetics Part B, 144B(1), 87–94. https://doi.org/10.1002/ajmg.b.30407

    Article  Google Scholar 

  • Channell, M. M., Hahn, L. J., Rosser, T. C., Hamilton, D., Frank-Crawford, M. A., Capone, G. T., & Sherman, S. L. (2019). Characteristics associated with autism spectrum disorder risk in individuals with Down syndrome. Journal of Autism and Developmental Disorders, 49(9), 3543–3556. https://doi.org/10.1007/s10803-019-04074-1

    Article  PubMed  Google Scholar 

  • Cohen, J. (1988). Statistical power analysis for the behavioral sciencies (2nd ed.). Erlbaum.

    Google Scholar 

  • DiGuiseppi, C., Hepburn, S., Davis, J. M., Fidler, D. J., Hartway, S., Lee, N. R., Miller, L., Ruttenber, M., & Robinson, C. (2010). Screening for autism spectrum disorders in children with Down syndrome: Population prevalence and screening test characteristics. Journal of Developmental and Behavioral Pediatrics, 31(3), 181

    Article  Google Scholar 

  • Dressler, A., Perelli, V., Bozza, M., & Bargagna, S. (2011). The autistic phenotype in Down syndrome: Differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone. Functional Neurology, 26(3), 151–158

    PubMed  PubMed Central  Google Scholar 

  • Einfeld, S. L., & Tonge, B. J. (1995). The developmental behaviour checklist: The development and validation of an instrument to assess behavioural and emotional disturbance in children and adolescents with mental retardation. Journal of Autism and Developmental Disorders, 25, 81–104

    Article  Google Scholar 

  • Eisenhower, A. S., Baker, B. L., & Blacher, J. (2005). Preschool children with intellectual disability: Syndrome specificity, behaviour problems, and maternal well-being. Journal of Intellectual Disability Research, 49(Pt 9), 657–671. https://doi.org/10.1111/j.1365-2788.2005.00699.x

    Article  PubMed  Google Scholar 

  • Esbensen, A. J., Hoffman, E. K., Shaffer, R., Chen, E., Patel, L., & Jacola, L. (2018). Reliability of parent report measures of behaviour in children with Down syndrome. Journal of Intellectual Disability Research, 62(9), 785–797. https://doi.org/10.1111/jir.12533

    Article  PubMed  Google Scholar 

  • Esler, A. N., Bal, V. H., Guthrie, W., Wetherby, A., Weismer, S. E., & Lord, C. (2015). The autism diagnostic observation schedule, toddler module: Standardized severity scores. Journal of Autism and Developmental Disorder. https://doi.org/10.1007/s10803-015-2432-7

    Article  Google Scholar 

  • Godfrey, M., Hepburn, S., Fidler, D. J., Tapera, T., Zhang, F., Rosenberg, C. R., & Lee, N. R. (2019). Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only. Research in Developmental Disabilities, 89, 83–93. https://doi.org/10.1016/j.ridd.2019.03.003

    Article  PubMed  Google Scholar 

  • Gotham, K., Pickles, A., & Lord, C. (2008). Standardizing ADOS scores for a measure of severity in autism spectrum disorders. Journal of Autism and Developmental Disorders, 39(5), 693–705. https://doi.org/10.1007/s10803-008-0674-3

    Article  PubMed  PubMed Central  Google Scholar 

  • Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015). Down syndrome: Cognitive and behavioral functioning across the lifespan. American Journal of Medical Genetics Part C, 169(2), 135–149. https://doi.org/10.1002/ajmg.c.31439

    Article  Google Scholar 

  • Hamner, T., Hepburn, S., Zhang, F., Fidler, D., Robinson Rosenberg, C., Robins, D. L., & Lee, N. R. (2019). Cognitive profiles and autism symptoms in comorbid Down syndrome and autism spectrum disorder. Journal of Developmental and Behavioral Pediatrics. https://doi.org/10.1097/DBP.0000000000000745

    Article  Google Scholar 

  • Harrison, P. L., & Oakland, T. (2003). Adaptive behavior assessment system-second edition (ABAS-II). Western Psychological Services.

    Google Scholar 

  • Harrison, P. L., & Oakland, T. (2015). Adaptive behavior assessment system-third edition (ABAS-3). Western Psychological Services.

    Google Scholar 

  • Howlin, P., Wing, L., & Gould, J. (1995). The recognition of autism in children with Down syndrome–implications for intervention and some speculations about pathology. Developmental Medicine and Child Neurology, 37(5), 406–414. https://doi.org/10.1111/j.1469-8749.1995.tb12024.x

    Article  PubMed  Google Scholar 

  • Hus, V., Gotham, K., & Lord, C. (2014). Standardizing ADOS domain scores: Separating severity of social affect and restricted and repetitive behaviors. Journal of Autism and Developmental Disorders, 44(10), 2400–2412. https://doi.org/10.1007/s10803-012-1719-1

    Article  PubMed  PubMed Central  Google Scholar 

  • Hus, V., & Lord, C. (2014). The autism diagnostic observation schedule, module 4: Revised algorithm and standardized severity scores. Journal of Autism and Developmental Disorders, 44(8), 1996–2012. https://doi.org/10.1007/s10803-014-2080-3

    Article  PubMed  PubMed Central  Google Scholar 

  • Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint and compulsive behaviors in Cornelia de Lange syndrome. American Journal of Mental Deficiency, 107, 146–154

    Google Scholar 

  • Kenworthy, L., Case, L., Harms, M. B., Martin, A., & Wallace, G. L. (2010). Adaptive behavior ratings correlate with symptomatology and IQ among individuals with high-functioning autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(4), 416–423. https://doi.org/10.1007/s10803-009-0911-4

    Article  PubMed  PubMed Central  Google Scholar 

  • Krug, D. A., Arick, J., & Almond, P. (1980). Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry, 21, 221–229

    Article  Google Scholar 

  • Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., DiLavore, P. C., Pickles, C., & Rutter, M. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223

    Article  Google Scholar 

  • Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. (2012). Autism diagnostic observation schedule, second edition (ADOS-2) manual (Part I): Modules 1–4. Western Psychological Services.

    Google Scholar 

  • 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(5), 659–685

    Article  Google Scholar 

  • Maenner, M. J., Shaw, K. A., Baio, J., Washington, A., Patrick, M., DiRienzo, M., Christiansen, D.L., Wiggins, L.D., Pettygrove, S., Andrews, J.G., Lopez, M., Hudson, A., Baroud, T., Schwenk, Y., White, T., Robinson Rosenberg, C., Lee, L., Harrington, R.A., Huston, M., Hewitt, A., Esler, A., Hall-Lande, J., Poynter, J.N., Hallas-Muchow, L., Constantino, J.N., Fitzgerald, R.T., Zohorodny, W., Shenouda, J., Daniels, J.L., Warren, Z., Vehorn, A., Salinas, A., Durkin, M.S., & Dietz, P.M. (2020). Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States 2016. MMWR Surveillance Summaries, 69(4), 1–12. https://doi.org/10.15585/mmwr.ss6904a1externalicon

    Article  PubMed Central  Google Scholar 

  • Molloy, C. A., Murray, D. S., Kinsman, A., Castillo, H., Mitchell, T., Hickey, F. J., & Patterson, B. (2009). Differences in the clinical presentation of trisomy 21 with and without autism. Journal of Intellectual Disability Research, 53(2), 143–151. https://doi.org/10.1111/j.1365-2788.2008.01138.x

    Article  PubMed  Google Scholar 

  • Moss, J., Oliver, C., Arron, K., Burbridge, C., & Berg, K. (2009). The prevalence and phenomonology of repetitive behavior in genetic syndromes. Journal of Autism and Developmental Disorders, 39, 572–588

    Article  Google Scholar 

  • Moss, J., Richards, C., Nelson, L., & Oliver, C. (2013). Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism, 17(4), 390–404. https://doi.org/10.1177/1362361312442790

    Article  PubMed  Google Scholar 

  • Mullen, E. M. (1995). Mullen scales of early learning: Manual. NCS Pearson, Inc.

    Google Scholar 

  • Naerland, T., Bakke, K. A., Storvik, S., Warner, G., & Howlin, P. (2017). Age and gender-related differences in emotional and behavioural problems and autistic features in children and adolescents with Down syndrome: A survey-based study of 674 individuals. Journal of Intellectual Disability Research, 61(6), 594–603. https://doi.org/10.1111/jir.12342

    Article  PubMed  Google Scholar 

  • Oxelgren, U. W., Aberg, M., Myrelid, A., Anneren, G., Westerlund, J., Gustafsson, J., & Fernell, E. (2019). Autism needs to be considered in children with Down Syndrome. Acta Paediatrica, 108(11), 2019–2026. https://doi.org/10.1111/apa.14850

    Article  Google Scholar 

  • Oxelgren, U. W., Myrelid, A., Anneren, G., Ekstam, B., Goransson, C., Holmbom, A., Lsaksson, A., Aberg, M., Gusafsson, J., & Fernell, E. (2017). Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: A population-based study. Developmental Medicine and Child Neurology, 59(3), 276–283. https://doi.org/10.1111/dmcn.13217

    Article  PubMed  Google Scholar 

  • Pandolfi, V., Magyar, C. I., & Dill, C. A. (2012). An initial psychometric evaluation of the CBCL 6–18 in a sample of youth with autism spectrum disorders. Research in Autism Spectrum Disorder, 6(1), 96–108. https://doi.org/10.1016/j.rasd.2011.03.009

    Article  Google Scholar 

  • Pandolfi, V., Magyar, C. I., Norris M. (2014). Validity study of the CBCL 6-18 for the assessment of emotional problems in youth with ASD. Journal of Mental Health Research in Intellectual Disabilities, 7(4), 306–322. https://doi.org/10.1080/19315864.2014.930547

    Article  PubMed  PubMed Central  Google Scholar 

  • Presson, A. P., Partyka, G., Jensen, K. M., Devine, O. J., Rasmussen, S. A., McCabe, L. L., & McCabe, E. R. (2013). Current estimate of Down Syndrome population prevalence in the United States. Journal of Pediatrics, 163(4), 1163–1168. https://doi.org/10.1016/j.jpeds.2013.06.013

    Article  Google Scholar 

  • Rasmussen, P., Borjesson, O., Wentz, E., & Gillberg, C. (2001). Autistic disorders in Down syndrome: Background factors and clinical correlates. Developmental Medicine and Child Neurology, 43(11), 750–754. https://doi.org/10.1017/s0012162201001372

    Article  PubMed  Google Scholar 

  • Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. The Lancet Psychiatry, 2(10), 909–916. https://doi.org/10.1016/s2215-0366(15)00376-4

    Article  PubMed  Google Scholar 

  • Roid, G. H. (2003). Stanford-Binet Intelligence Scales (5th ed.). Western Psychological Services.

    Google Scholar 

  • Russell, G., Mandy, W., Elliott, D., White, R., Pittwood, T., & Ford, T. (2019). Selection bias on intellectual ability in autism research: A cross-sectional review and meta-analysis. Molecular Autism, 10, 9. https://doi.org/10.1186/s13229-019-0260-x

    Article  PubMed  PubMed Central  Google Scholar 

  • Rutter, M., Bailey, A., & Lord, C. (2003). Manual for the social communication questionnaire. Western Psychological Services.

    Google Scholar 

  • Thurm, A., Farmer, C., Salzman, E., Lord, C., & Bishop, S. (2019). State of the field: Differentiating intellectual disability from autism spectrum disorder. Front Psychiatry, 10, 526. https://doi.org/10.3389/fpsyt.2019.00526

    Article  PubMed  PubMed Central  Google Scholar 

  • Warner, G., Howlin, P., Salomone, E., Moss, J., & Charman, T. (2017). Profiles of children with Down syndrome who meet screening criteria for autism spectrum disorder (ASD): A comparison with children diagnosed with ASD attending specialist schools. Journal of Intellectual Disability Research, 61(1), 75–82. https://doi.org/10.1111/jir.12344

    Article  PubMed  Google Scholar 

  • Warner, G., Moss, J., Smith, P., & Howlin, P. (2014). Autism characteristics and behavioural disturbances in ∼500 children with Down’s Syndrome in England and Wales. Autism Research, 7(4), 433–441. https://doi.org/10.1002/aur.1371

    Article  PubMed  Google Scholar 

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Funding

Research reported in this publication was supported by National Center for Advancing Translational Sciences of the National Institutes of Health under award number UL1TR0002369. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors would like to thank the children and families who were seen in the Autism Clinic at Doernbecher Children’s Hospital without whom this research would not be possible. A subset of the analyses was presented through a virtual poster at the International Meeting for Autism Research in May 2020.

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Author notes

  1. Kathryn R. Bradbury

    Present address: Children’s Neuropsychological Services, Andover, MA, USA

  2. Emily I. Anderberg

    Present address: Lurie Center for Autism at Massachusetts General Hospital, Boston, MA, USA

Authors and Affiliations

  1. Division of Pediatric Psychology, Department of Pediatrics, Institute on Development and Disability, Oregon Health & Science University and Doernbecher Children’s Hospital, Portland, OR, USA

    Kathryn R. Bradbury, Emily I. Anderberg, Iulia Vasile, Rachel K. Greene & Susanne W. Duvall

  2. Oregon Center for Children and Youth with Special Health Needs (OCCYSHN), Oregon Health & Science University, Portland, OR, USA

    Lark Huang-Storms

  3. Center for Integrative Brain Research and Autism Center, Seattle Children’s Hospital, Seattle, WA, USA

    Lark Huang-Storms

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  1. Kathryn R. Bradbury
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Contributions

KRB, EIA, LH-S, and SWD contributed to the study conception and design. Data collection, data entry, and analysis were performed by KRB, EIA, IV, and RKG. The first draft of the manuscript was written by KRB, EIA, and SWD. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Kathryn R. Bradbury.

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This research study was conducted retrospectively from data obtained for clinical purposes. The study was completed in accordance with the intuitional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The Oregon Health and Science University IRB approved this study.

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A waiver of consent was obtained due to the retrospective nature of the study.

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Bradbury, K.R., Anderberg, E.I., Huang-Storms, L. et al. Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics. J Autism Dev Disord 52, 1235–1246 (2022). https://doi.org/10.1007/s10803-021-05016-6

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