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Behavioural Characteristics Related to Adaptive Functioning in Young Persons with Tuberous Sclerosis Complex, Down Syndrome and Fragile x Syndrome

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Abstract

This study investigated which specific behavioural issues is best associated with adaptive functioning in three specific genetic syndromes. Behavioural issues were assessed in neurotypical (NT) (n = 43), Tuberous sclerosis complex (TSC) (n = 19), Down syndrome (DS) (n = 24) and Fragile X syndrome (FXS) (n = 23) participants ranging from 3 to 30 years of age. First, we compared the behaviours characteristics between these genetic conditions and also according to age within these clinical groups. Multiple regressions included five behavioural scales (CBCL/BSI) and IQ as factors associated with adaptive functioning (ABAS-II’s composite scores). These regressions were carried out in order to observe which behavioural characteristics are associated with adaptive functioning in each syndrome. Results showed specific behavioural profiles between syndromes but no differences between ages within syndromes. Results also showed that IQ and inattention/ hyperactivity accounted for a large amount of variance of adaptive functioning in TSC and FXS groups in almost all adaptive domains. A lower IQ and more issues in attention and hyperactivity were associated with a lower adaptive functioning. These results are consistent with existing literature on adaptive functioning through neurodevelopmental disorders (Chromik et al. 2019; Stein et al. 1995; Sikora et al. 2012; Liss et al. 2001; Kanne et al. 2011). Results linking social issues and anxiety to adaptive functioning remained inconsistent.

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References

  • Abbeduto, L., Seltzer, M. M., Shattuck, P., Krauss, M. W., Orsmond, G., & Murphy, M. M. (2004). Psychological well-being and coping in mothers of youths with autism, down syndrome, orFragile X syndrome. American Journal on Mental Retardation, 109(3), 237–254. https://doi.org/10.1352/0895-8017(2004)109<237:pwacim>2.0.co;2.

    Article  PubMed  Google Scholar 

  • Abbeduto, L., Brady, N., & Kover Sara, T. (2007). Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews, 13(1), 36–46. https://doi.org/10.1002/mrdd.20142.

    Article  PubMed  PubMed Central  Google Scholar 

  • Achenbach, T. M. (1999). The child behavior checklist and related instruments. In The use of psychological testing for treatment planning and outcomes assessment (2nd ed., pp. 429–466). Mahwah, NJ, US: Lawrence Erlbaum Associates Publishers.

    Google Scholar 

  • Achenbach, T. M., & Rescorla, L. A. (2000). Manual for the ASEBA preschool forms and profiles (Vol. 30): Burlington, VT: University of Vermont, research center for children, youth, & families.

  • Achenbach, T. M., & Rescorla, L. (2001). ASEBA school-age forms & profiles. VT: Aseba Burlington.

    Google Scholar 

  • Aman, M. G., Singh, N. N., Stewart, A. W., & Field, C. J. (1985). The aberrant behavior checklist: A behavior rating scale for the assessment of treatment effects. American Journal of Mental Deficiency, 89(5), 485–491.

    PubMed  Google Scholar 

  • American Psychiatric Association [APA], A. P. A. (2013). Diagnostic and statistical manual of mental disorders (DSM-5®): American Psychiatric Pub.

  • Angkustsiri, K., Leckliter, I., Tartaglia, N., Beaton, E. A., Enriquez, J., & Simon, T. J. (2012). An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. Journal of developmental and behavioral pediatrics : JDBP, 33(9), 713–720. https://doi.org/10.1097/DBP.0b013e318272dd24.

    Article  PubMed  Google Scholar 

  • Bailey, D. B., Hatton, D. D., Skinner, M., & Mesibov, G. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. [journal article]. Journal of Autism and Developmental Disorders, 31(2), 165–174. https://doi.org/10.1023/a:1010747131386.

    Article  PubMed  Google Scholar 

  • Basten, I., Boada, R., Taylor, H., Koenig, K., Barrionuevo, V., Brandão, A., & Costa, A. (2018). On the Design of Broad-Based Neuropsychological Test Batteries to assess the cognitive abilities of individuals with down syndrome in the context of clinical trials. Brain Sciences, 8(12), 205.

    Article  Google Scholar 

  • Bodfish , J., Symons , F., & Lewis , M. (1999). The repetitive behavior scale. Western Carolina Center Research Reports.

  • Bodfish, J. W., Symons, F. J., Parker, D. E., & Lewis, M. H. (2000). Varieties of repetitive behavior in autism: Comparisons to mental retardation. [journal article]. Journal of Autism and Developmental Disorders, 30(3), 237–243. https://doi.org/10.1023/a:1005596502855.

    Article  PubMed  Google Scholar 

  • Bölte, S., Poustka, F., & Constantino, J. N. (2008). Assessing autistic traits: Cross-cultural validation of the social responsiveness scale (SRS). Autism Research, 1(6), 354–363. https://doi.org/10.1002/aur.49.

    Article  PubMed  Google Scholar 

  • Chorpita, B. F. (2018). Child & adolescent psychotherapy: Components of evidence-based treatments for youth and their parents: Cambridge University press.

  • Chromik, L. C., Quintin, E.-M., Lepage, J.-F., Hustyi, K. M., Lightbody, A. A., & Reiss, A. L. (2019). The influence of hyperactivity, impulsivity, and attention problems on social functioning in adolescents and young adults with fragile X syndrome. Journal of Attention Disorders, 23(2), 181–188. https://doi.org/10.1177/1087054715571739.

    Article  PubMed  Google Scholar 

  • Cohen, J. (1992). A power primer. Psychological Bulletin, 112(1), 155–159. https://doi.org/10.1037/0033-2909.112.1.155.

    Article  PubMed  Google Scholar 

  • Constantino, J., & Gruber, C. (2005). Social responsive scale (SRS) manual. Los Angeles: Western Psychological Services.

    Google Scholar 

  • Crawford, D. C., Acuna, J. M., & Sherman, S. L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genetics in Medicine, 3(5), 359–371.

    Article  Google Scholar 

  • Curatolo, P., Bombardieri, R., & Jozwiak, S. (2008). Tuberous sclerosis. The Lancet, 372(9639), 657–668. https://doi.org/10.1016/s0140-6736(08)61279-9.

    Article  Google Scholar 

  • Curatolo, P., Moavero, R., & de Vries, P. J. (2015). Neurological and neuropsychiatric aspects of tuberous sclerosis complex. The Lancet Neurology, 14(7), 733–745.

    Article  Google Scholar 

  • De Bildt, A., Sytema, S., Kraijer, D., Sparrow, S., & Minderaa, R. (2005). Adaptive functioning and behaviour problems in relation to level of education in children and adolescents with intellectual disability. Journal of Intellectual Disability Research, 49(9), 672–681. https://doi.org/10.1111/j.1365-2788.2005.00711.x.

    Article  PubMed  Google Scholar 

  • de Vries, P. J., Hunt, A., & Bolton, P. F. (2007). The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC). European Child & Adolescent Psychiatry, 16(1), 16–24.

    Article  Google Scholar 

  • De Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W., Dunn, D., Ess, K. C., et al. (2015). Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatric Neurology, 52(1), 25–35.

    Article  Google Scholar 

  • Dekker, M. C., Koot, H. M., Ende, J. v. d., & Verhulst, F. C. (2002). Emotional and behavioral problems in children and adolescents with and without intellectual disability. Journal of Child Psychology and Psychiatry, 43(8), 1087–1098. https://doi.org/10.1111/1469-7610.00235.

  • del Hoyo Soriano, L., Thurman, A. J., & Abbeduto, L. (2018). Specificity: A phenotypic comparison of communication-relevant domains between youth with down syndrome and fragile X syndrome. Frontiers in Genetics, 9.

  • Demark, J. L., Feldman, M. A., & Holden, J. J. A. (2003). Behavioral relationship between autism and fragile X syndrome. American Journal on Mental Retardation, 108(5), 314–326. https://doi.org/10.1352/0895-8017(2003)108<314:brbaaf>2.0.co;2.

    Article  PubMed  Google Scholar 

  • Derogatis, L. R., & Spencer, P. (1993). Brief symptom inventory: BSI: Pearson upper Saddle River, NJ.

    Google Scholar 

  • DiMario Jr., F. J., Sahin, M., & Ebrahimi-Fakhari, D. (2015). Tuberous sclerosis complex. Pediatric Clinics of North America, 62(3), 633–648. https://doi.org/10.1016/j.pcl.2015.03.005.

    Article  PubMed  Google Scholar 

  • Ditterline, J., Banner, D., Oakland, T., & Becton, D. (2008). Adaptive behavior profiles of students with disabilities. Journal of Applied School Psychology, 24(2), 191–208. https://doi.org/10.1080/15377900802089973.

    Article  Google Scholar 

  • Dunn, L. M., & Dunn, L. M. (1981). Peabody picture vocabulary test-revised: American guidance service, Incorporated.

    Google Scholar 

  • Dunn, L. M., Dunn, L. M., & Thériault-Whalen, C. M. (1993). Échelle de vocabulaire en images Peabody: série de planches Adaptation française du Peabody Picture Vocabulary test-revised.

    Google Scholar 

  • Dykens, E. M. (2007). Psychiatric and behavioral disorders in persons with down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13(3), 272-278. https://doi.org/10.1002/mrdd.20159.

  • Ersoy, S. A., Güler, H. A., & Çetin, F. H. (2018). Psychopathology in down syndrome. In Advances in Research on Down Syndrome: InTech, Psychopathology in Down Syndrome.

  • Garber, K. B., Visootsak, J., & Warren, S. T. (2008). Fragile X syndrome. [practical genetics]. European Journal of Human Genetics, 16, 666. https://doi.org/10.1038/ejhg.2008.61.

  • Golfenshtein, N., Srulovici, E., & Medoff-Cooper, B. (2016). Investigating parenting stress across pediatric health conditions - a systematic review. Comprehensive Child and Adolescent Nursing, 39(1), 41–79. https://doi.org/10.3109/01460862.2015.1078423.

    Article  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: Seminars in Medical Genetics, 169(2), 135–149. https://doi.org/10.1002/ajmg.c.31439.

  • Griffith, G. M., Hastings, R. P., Nash, S., & Hill, C. (2010). Using matched groups to explore child behavior problems and maternal well-being in children with down syndrome and autism. [journal article]. Journal of Autism and Developmental Disorders, 40(5), 610–619. https://doi.org/10.1007/s10803-009-0906-1.

    Article  PubMed  Google Scholar 

  • Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., Picker, J., Gane, L., & Tranfaglia, M. (2009). Advances in the treatment of fragile X syndrome. Pediatrics, 123(1), 378–390. https://doi.org/10.1542/peds.2008-0317.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hall, S. S., Burns, D. D., Lightbody, A. A., & Reiss, A. L. (2008). Longitudinal changes in intellectual development in children with fragile X syndrome. [journal article]. Journal of Abnormal Child Psychology, 36(6), 927–939. https://doi.org/10.1007/s10802-008-9223-y.

    Article  PubMed  PubMed Central  Google Scholar 

  • Harrison, P., & Oakland, T. (2003). Adaptive behavior assessment—Second edition manual (ABAS-II). San Antonio: Harcourt Assessment.

    Google Scholar 

  • Harrison, P. L., & Oakland, T. (2008). Chapter 3 - ABAS-II assessment methods. In T. Oakland & P. L. Harrison (Eds.), Adaptive behavior assessment system-II (pp. 37–49). San Diego: Academic Press.

    Chapter  Google Scholar 

  • Inlow, J. K., & Restifo, L. L. (2004). Molecular and comparative genetics of mental retardation.Pdf>. Genetics, 166, 835–881.

    Article  Google Scholar 

  • Jones, C., & Reilly, C. (2016). Parental anxiety in childhood epilepsy: A systematic review. Epilepsia, 57(4), 529–537. https://doi.org/10.1111/epi.13326.

    Article  PubMed  Google Scholar 

  • Kanne, S. M., Gerber, A. J., Quirmbach, L. M., Sparrow, S. S., Cicchetti, D. V., & Saulnier, C. A. (2011). The role of adaptive behavior in autism Spectrum disorders: Implications for functional outcome. [journal article]. Journal of Autism and Developmental Disorders, 41(8), 1007–1018. https://doi.org/10.1007/s10803-010-1126-4.

    Article  PubMed  Google Scholar 

  • Kellett, S., Beail, N., Newman, D. W., & Frankish, P. (2003). Utility of the brief symptom inventory in the assessment of psychological distress. Journal of Applied Research in Intellectual Disabilities, 16(2), 127-134. https://doi.org/10.1046/j.1468-3148.2003.00152.x.

  • Lam, K. S. L., & Aman, M. G. (2007). The repetitive behavior scale-revised: Independent validation in individuals with autism Spectrum disorders. [journal article]. Journal of Autism and Developmental Disorders, 37(5), 855–866. https://doi.org/10.1007/s10803-006-0213-z.

    Article  PubMed  Google Scholar 

  • Leung, A. K., & Robson, W. L. (2007). Tuberous sclerosis complex: A review. Journal of Pediatric Health Care, 21(2), 108–114. https://doi.org/10.1016/j.pedhc.2006.05.004.

    Article  PubMed  Google Scholar 

  • Liss, M., Harel, B., Fein, D., Allen, D., Dunn, M., Feinstein, C., Morris, R., Waterhouse, L., & Rapin, I. (2001). Predictors and correlates of adaptive functioning in children with developmental disorders. [journal article]. Journal of Autism and Developmental Disorders, 31(2), 219–230. https://doi.org/10.1023/a:1010707417274.

    Article  PubMed  Google Scholar 

  • Lott, I. T. (2012). Neurological phenotypes for down syndrome across the life span. Progress in Brain Research, 197, 101–121. https://doi.org/10.1016/B978-0-444-54299-1.00006-6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Lozano, R., Rosero, C. A., & Hagerman, R. J. (2014). Fragile X spectrum disorders. Intractable Rare Dis Res, 3(4), 134–146. https://doi.org/10.5582/irdr.2014.01022.

    Article  PubMed  PubMed Central  Google Scholar 

  • Matson, J. L., Rivet, T. T., Fodstad, J. C., Dempsey, T., & Boisjoli, J. A. (2009). Examination of adaptive behavior differences in adults with autism spectrum disorders and intellectual disability. Research in Developmental Disabilities, 30(6), 1317–1325. https://doi.org/10.1016/j.ridd.2009.05.008.

    Article  PubMed  Google Scholar 

  • McDonald, C. A., Thomeer, M. L., Lopata, C., Fox, J. D., Donnelly, J. P., Tang, V., & Rodgers, J. D. (2015). VABS-II ratings and predictors of adaptive behavior in children with HFASD. [journal article]. Journal of Developmental and Physical Disabilities, 27(2), 235–247. https://doi.org/10.1007/s10882-014-9411-3.

    Article  Google Scholar 

  • Mirenda, P., Smith, I. M., Vaillancourt, T., Georgiades, S., Duku, E., Szatmari, P., et al. (2010). Validating the repetitive behavior scale-revised in young children with autism Spectrum disorder. [journal article]. Journal of Autism and Developmental Disorders, 40(12), 1521–1530. https://doi.org/10.1007/s10803-010-1012-0.

    Article  PubMed  Google Scholar 

  • Muzykewicz, D. A., Newberry, P., Danforth, N., Halpern, E. F., & Thiele, E. A. (2007). Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy & Behavior, 11(4), 506–513. https://doi.org/10.1016/j.yebeh.2007.07.010.

    Article  Google Scholar 

  • Prather, P., & de Vries, P. J. (2004). Behavioral and cognitive aspects of tuberous sclerosis complex. Journal of Child Neurology, 19(9), 666–674.

    Article  Google Scholar 

  • Price, J. A., Morris, Z. A., & Costello, S. (2018). The application of adaptive behaviour models: A systematic review. Behavioral Sciences, 8(1), 11. https://doi.org/10.3390/bs8010011.

    Article  PubMed Central  Google Scholar 

  • Pulsifer, M. B., Winterkorn, E. B., & Thiele, E. A. (2007). Psychological profile of adults with tuberous sclerosis complex. Epilepsy & Behavior, 10(3), 402–406.

    Article  Google Scholar 

  • Roid, G. H., & Miller, L. J. (1997). Leiter international performance scale-revised (Leiter-R). Wood Dale, IL: Stoelting.

    Google Scholar 

  • Sikora, D. M., Vora, P., Coury, D. L., & Rosenberg, D. (2012). Attention-deficit/hyperactivity disorder symptoms, adaptive functioning, and quality of life in children with autism Spectrum disorder. Pediatrics, 130(supplement 2), S91-S97. https://doi.org/10.1542/peds.2012-0900G.

  • Stein, M. A., Szumowski, E., Blondis, T. A., & Roizen, N. J. (1995). Adaptive skills dysfunction in ADD and ADHD children. Journal of Child Psychology and Psychiatry, 36(4), 663–670. https://doi.org/10.1111/j.1469-7610.1995.tb02320.x.

    Article  PubMed  Google Scholar 

  • Thompson, T., Coleman, J. M., Riley, K., Snider, L. A., Howard, L. J., Sansone, S. M., & Hessl, D. (2018). Standardized assessment accommodations for individuals with intellectual disability. [journal article]. Contemporary School Psychology, 22(4), 443–457. https://doi.org/10.1007/s40688-018-0171-4.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tye, C., Thomas, L. E., Sampson, J. R., Lewis, J., O'Callaghan, F., Yates, J. R. W., & Bolton, P. F. (2018). Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open, 3(2), 276–280. https://doi.org/10.1002/epi4.12111.

    Article  PubMed  PubMed Central  Google Scholar 

  • van Eeghen, A. M., Black, M. E., Pulsifer, M. B., Kwiatkowski, D. J., & Thiele, E. A. (2012a). Genotype and cognitive phenotype of patients with tuberous sclerosis complex. European Journal of Human Genetics, 20(5), 510–515. https://doi.org/10.1038/ejhg.2011.241.

    Article  PubMed  Google Scholar 

  • van Eeghen, A. M., Chu-Shore, C. J., Pulsifer, M. B., Camposano, S. E., & Thiele, E. A. (2012b). Cognitive and adaptive development of patients with tuberous sclerosis complex: A retrospective, longitudinal investigation. Epilepsy & Behavior, 23(1), 10–15. https://doi.org/10.1016/j.yebeh.2011.10.005.

    Article  Google Scholar 

  • Wheeler, A. C., Raspa, M., Bishop, E., & Bailey, D. B. (2016). Aggression in fragile X syndrome. Journal of Intellectual Disability Research, 60(2), 113–125. https://doi.org/10.1111/jir.12238.

    Article  PubMed  Google Scholar 

  • Williams, M. N., Grajales, C. A. G., & Kurkiewicz, D. (2013). Assumptions of multiple regression: Correcting two misconceptions. Practical Assessment, Research & Evaluation, 18(11).

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Acknowledgments

The authors would like to address a special thanks to all participating families.

Funding

This project is funded by a grant awarded by « The Scottish Rite Charitable Foundation of Canada » to Sarah Lippé and a grant by the « Fragile X Research Foundation of Canada » awarded to Sarah Lippé and to Sébastien Jacquemont. Valérie Côté is supported by scholarships from the Fonds québécois de la recherche sur la nature et les technologies (FRQ-NT).

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Authors and Affiliations

  1. Psychology Department, University of Montréal, Office F-457, 90 Vincent-D’Indy Avenue, Montreal, Quebec, H2V 2S9, Canada

    Valérie Côté, Ève Lalancette, Jade-Audrey Lavergne & Sarah Lippé

  2. NED laboratory, University of Montréal, Montréal, Québec, Canada

    Valérie Côté, Inga S. Knoth, Ève Lalancette, Jade-Audrey Lavergne & Sarah Lippé

  3. Research center, UHC Sainte-Justine, Montréal, Québec, Canada

    Valérie Côté, Inga S. Knoth, Ève Lalancette, Philippe Major & Sarah Lippé

  4. Neurology Program UHC Sainte-Justine, Montréal, Québec, Canada

    Lucie Côté & Philippe Major

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  1. Valérie Côté
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Valérie Côté, Inga Sophia Knoth and Ève Lalancette. The first draft of the manuscript was written by Valérie Côté and Sarah Lippé. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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All procedures involving human participants performed in this study were in accordance with the ethical standards of the University Health Center research committee (reference number FWA00021692) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.

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Côté, V., Knoth, I.S., Lalancette, È. et al. Behavioural Characteristics Related to Adaptive Functioning in Young Persons with Tuberous Sclerosis Complex, Down Syndrome and Fragile x Syndrome. J Dev Phys Disabil 33, 279–296 (2021). https://doi.org/10.1007/s10882-020-09748-8

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