Skip to main content
Springer Nature Link
Log in

Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2

  • Original Paper
  • Published:
Journal of Autism and Developmental Disorders Aims and scope Submit manuscript

Abstract

We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a “triple criteria” diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
€32.70 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (Finland)

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  • Abbeduto, L., McDuffie, A., & Thurman, A. J. (2014). The fragile X syndrome–autism comorbidity: What do we really know? Frontiers in Genetics, 5, 355.

    Article  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. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: Author.

    Book  Google Scholar 

  • Ashwood, K. L., Buitelaar, J., Murphy, D., Spooren, W., & Charman, T. (2015). European clinical network: Autism spectrum disorder assessments and patient characterisation. European Child and Adolescent Psychiatry, 24(8), 985–995. https://doi.org/10.1007/s00787-014-0648-2.

    Article  PubMed  Google Scholar 

  • Avcil, S., Baykara, B., Baydur, H., Munir, K. M., & Inal Emiroglu, N. (2015). The validity and reliability of the Social Communication Questionnaire-Turkish form in autistics aged 4–18 years. Turk Psikiyatri Derg, 26(1), 56–64.

    PubMed  PubMed Central  Google Scholar 

  • Bailey, D. B., Jr., Hatton, D. D., Skinner, M., & Mesibov, G. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. Journal of Autism and Developmental Disorders, 31(2), 165–174.

    Article  Google Scholar 

  • Bailey, D. B., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American Journal of Medical Genetics, 146A(16), 2060. https://doi.org/10.1002/ajmg.a.32439.

    Article  PubMed  Google Scholar 

  • Bal, V. H., Havdahl, A., Bishop, S., Thurm, A., & Farmer, C. (2017). The meaning of SRS-2 scores is relative: The importance of measurement invariance in outcome measure selection. Paper presented at the Gatlinburg conference, Gatlinburg, TN.

  • Beauducel, A., & Herzberg, P. Y. (2006). On the performance of maximum likelihood versus means and variance adjusted weighted least squares estimation in CFA. Structural Equation Modeling: A Multidisciplinary Journal, 13(2), 186–203. https://doi.org/10.1207/s15328007sem1302_2.

    Article  Google Scholar 

  • Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. British Journal of Psychiatry, 175, 444–451.

    Article  Google Scholar 

  • Bishop, S., Gahagan, S., & Lord, C. (2007). Re-examining the core features of autism: A comparison of autism spectrum disorder and fetal alcohol spectrum disorder. Journal of Child Psychology and Psychiatry, 48(11), 1111–1121. https://doi.org/10.1111/j.1469-7610.2007.01782.x.

    Article  PubMed  Google Scholar 

  • Bolte, S. (2012). Brief Report: the Social Responsiveness Scale for adults (SRS-A): Initial results in a German cohort. Journal of Autism and Developmental Disorders, 42(9), 1998–1999. https://doi.org/10.1007/s10803-011-1424-5.

    Article  PubMed  Google Scholar 

  • Bolte, 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 

  • Bone, D., Bishop, S. L., Black, M. P., Goodwin, M. S., Lord, C., & Narayanan, S. S. (2016). Use of machine learning to improve autism screening and diagnostic instruments: Effectiveness, efficiency, and multi-instrument fusion. Journal of Child Psychology and Psychiatry, 57(8), 927–937. https://doi.org/10.1111/jcpp.12559.

    Article  PubMed  Google Scholar 

  • Boyle, L., & Kaufmann, W. E. (2010). The behavioral phenotype of FMR1 mutations. Paper presented at the American Journal of Medical Genetics Part C: Seminars in Medical Genetics.

  • Chan, W., Smith, L. E., Hong, J., Greenberg, J. S., & Mailick, M. R. (2017). Validating the social responsiveness scale for adults with autism. Autism Research, 10(10), 1663–1671. https://doi.org/10.1002/aur.1813.

    Article  PubMed  PubMed Central  Google Scholar 

  • Charman, T., Baird, G., Simonoff, E., Loucas, T., Chandler, S., Meldrum, D., et al. (2007). Efficacy of three screening instruments in the identification of autistic-spectrum disorders. British Journal of Psychiatry, 191, 554–559. https://doi.org/10.1192/bjp.bp.107.040196.

    Article  PubMed  Google Scholar 

  • Charman, T., & Gotham, K. (2013). Measurement issues: Screening and diagnostic instruments for autism spectrum disorders—Lessons from research and practice. Child and Adolescent Mental Health, 18(1), 52–63. https://doi.org/10.1111/j.1475-3588.2012.00664.x.

    Article  PubMed  Google Scholar 

  • Cholemkery, H., Kitzerow, J., Rohrmann, S., & Freitag, C. M. (2014). Validity of the social responsiveness scale to differentiate between autism spectrum disorders and disruptive behaviour disorders. European Child and Adolescent Psychiatry, 23(2), 81–93. https://doi.org/10.1007/s00787-013-0427-5.

    Article  PubMed  Google Scholar 

  • Clifford, S., Dissanayake, C., Bui, Q. M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2007). Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Journal of Autism and Developmental Disorders, 37(4), 738–747. https://doi.org/10.1007/s10803-006-0205-z.

    Article  PubMed  Google Scholar 

  • Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., et al. (2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. American Journal of Human Genetics, 85(4), 503–514. https://doi.org/10.1016/j.ajhg.2009.09.007.

    Article  PubMed  PubMed Central  Google Scholar 

  • Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., et al. (2003). Validation of a brief quantitative measure of autistic traits: Comparison of the social responsiveness scale with the autism diagnostic interview-revised. Journal of Autism and Developmental Disorders, 33(4), 427–433.

    Article  Google Scholar 

  • Constantino, J. N., & Gruber, C. P. (2012). The social responsiveness scale-second edition. Los Angeles: Western Psychological Services.

    Google Scholar 

  • Constantino, J. N., Gruber, C. P., Davis, S., Hayes, S., Passanante, N., & Przybeck, T. (2004). The factor structure of autistic traits. Journal of Child Psychology and Psychiatry, 45(4), 719–726. https://doi.org/10.1111/j.1469-7610.2004.00266.x.

    Article  PubMed  Google Scholar 

  • Constantino, J. N., Przybeck, T., Friesen, D., & Todd, R. D. (2000). Reciprocal social behavior in children with and without pervasive developmental disorders. Journal of Developmental and Behavioral Pediatrics, 21(1), 2–11.

    Article  Google Scholar 

  • Corsello, C., Hus, V., Pickles, A., Risi, S., Cook, E. H., Jr., Leventhal, B. L., et al. (2007). Between a ROC and a hard place: Decision making and making decisions about using the SCQ. Journal of Child Psychology and Psychiatry, 48(9), 932–940. https://doi.org/10.1111/j.1469-7610.2007.01762.x.

    Article  PubMed  Google Scholar 

  • Cortina, J. M. (1993). What is coefficient alpha? An examination of theory and applications. Journal of Applied Psychology, 78, 98–104.

    Article  Google Scholar 

  • Daniels, A. M., Rosenberg, R. E., Anderson, C., Law, J. K., Marvin, A. R., & Law, P. A. (2012). Verification of parent-report of child autism spectrum disorder diagnosis to a web-based autism registry. Journal of Autism and Developmental Disorders, 42(2), 257–265. https://doi.org/10.1007/s10803-011-1236-7.

    Article  PubMed  Google Scholar 

  • Derks, O., Heinrich, M., Brooks, W., Sterkenburg, P., McCarthy, J., Underwood, L., et al. (2017). The Social Communication Questionnaire for adults with intellectual disability: SCQ-AID. Autism Research, 10(9), 1481–1490. https://doi.org/10.1002/aur.1795.

    Article  PubMed  Google Scholar 

  • Duku, E., Vaillancourt, T., Szatmari, P., Georgiades, S., Zwaigenbaum, L., Smith, I. M., et al. (2013). Investigating the measurement properties of the social responsiveness scale in preschool children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43(4), 860–868. https://doi.org/10.1007/s10803-012-1627-4.

    Article  PubMed  Google Scholar 

  • Eaves, L. C., Wingert, H., & Ho, H. H. (2006). Screening for autism: Agreement with diagnosis. Autism, 10(3), 229–242. https://doi.org/10.1177/1362361306063288.

    Article  PubMed  Google Scholar 

  • Erickson, C. A., Wink, L. K., Ray, B., Early, M. C., Stiegelmeyer, E., Mathieu-Frasier, L., et al. (2013). Impact of acamprosate on behavior and brain-derived neurotrophic factor: An open-label study in youth with fragile X syndrome. Psychopharmacology (Berl), 228(1), 75–84. https://doi.org/10.1007/s00213-013-3022-z.

    Article  Google Scholar 

  • Esler, A. N., & Ruble, L. A. (2015). DSM-5 diagnostic criteria for autism spectrum disorder with implications for school psychologists. International Journal of School & Educational Psychology, 3(1), 1–15. https://doi.org/10.1080/21683603.2014.890148.

    Article  Google Scholar 

  • Factor, R. S., Ryan, S. M., Farley, J. P., Ollendick, T. H., & Scarpa, A. (2017). Does the presence of anxiety and ADHD symptoms add to social impairment in children with autism spectrum disorder? Journal of Autism and Developmental Disorders, 47(4), 1122–1134. https://doi.org/10.1007/s10803-016-3025-9.

    Article  PubMed  Google Scholar 

  • Farzin, F., Rivera, S. M., & Hessl, D. (2009). Brief report: Visual processing of faces in individuals with fragile X syndrome: An eye tracking study. Journal of Autism and Developmental Disorders, 39(6), 946–952. https://doi.org/10.1007/s10803-009-0744-1.

    Article  PubMed  PubMed Central  Google Scholar 

  • Filipek, P. A., Accardo, P. J., Baranek, G. T., Cook, E. H., Jr., Dawson, G., Gordon, B., et al. (1999). The screening and diagnosis of autistic spectrum disorders. Journal of Autism and Developmental Disorders, 29(6), 439–484.

    Article  Google Scholar 

  • Floyd, F. J., & Widaman, K. F. (1995). Factor analysis in the development and refinement of clinical assessment instruments. Psychological Assessment, 7(3), 286–299.

    Article  Google Scholar 

  • Frazier, T. W., Ratliff, K. R., Gruber, C., Zhang, Y., Law, P. A., & Constantino, J. N. (2014). Confirmatory factor analytic structure and measurement invariance of quantitative autistic traits measured by the social responsiveness scale-2. Autism, 18(1), 31–44. https://doi.org/10.1177/1362361313500382.

    Article  PubMed  Google Scholar 

  • Gau, S. S.-F., Lee, C.-M., Lai, M.-C., Chiu, Y.-N., Huang, Y.-F., Kao, J.-D., et al. (2011). Psychometric properties of the Chinese version of the Social Communication Questionnaire. Research in Autism Spectrum Disorders, 5(2), 809–818. https://doi.org/10.1016/j.rasd.2010.09.010.

    Article  Google Scholar 

  • Granader, Y. E., Bender, H. A., Zemon, V., Rathi, S., Nass, R., & Macallister, W. S. (2010). The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex. Epilepsy & Behavior, 18(3), 262–266. https://doi.org/10.1016/j.yebeh.2010.04.010.

    Article  Google Scholar 

  • Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., et al. (2009). Advances in the treatment of fragile X syndrome. Pediatrics, 123(1), 378–390.

    Article  Google Scholar 

  • Hagerman, R. J., & Hagerman, H. P. (2002). Fragile X syndrome diagnosis, treatment, and research (3rd ed.). Baltimore: John Hopkins University Press.

    Google Scholar 

  • Hagerman, R., Kemper, M., & Hudson, M. (1985). Learning disabilities and attentional problems in boys with the fragile X syndrome. American Journal of Diseases of Children, 139(7), 674–678.

    PubMed  Google Scholar 

  • Hall, S. S., Lightbody, A. A., Hirt, M., Rezvani, A., & Reiss, A. L. (2010). Autism in fragile X syndrome: A category mistake? Journal of the American Academy of Child and Adolescent Psychiatry, 49(9), 921–933. https://doi.org/10.1016/j.jaac.2010.07.001.

    Article  PubMed  PubMed Central  Google Scholar 

  • Havdahl, K. A., Bishop, S. L., Suren, P., Oyen, A. S., Lord, C., Pickles, A., et al. (2017). The influence of parental concern on the utility of autism diagnostic instruments. Autism Research, 10(10), 1672–1686. https://doi.org/10.1002/aur.1817.

    Article  PubMed  Google Scholar 

  • Havdahl, K. A., Hus Bal, V., Huerta, M., Pickles, A., Oyen, A. S., Stoltenberg, C., et al. (2016). Multidimensional influences on autism symptom measures: Implications for use in etiological research. Journal of the American Academy of Child and Adolescent Psychiatry, 55(12), 1054–1063. https://doi.org/10.1016/j.jaac.2016.09.490.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hernandez, R. N., Feinberg, R. L., Vaurio, R., Passanante, N. M., Thompson, R. E., & Kaufmann, W. E. (2009). Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation. American Journal of Medical Genetics Part A, 149A(6), 1125. https://doi.org/10.1002/ajmg.a.32848.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hersh, J. H., & Saul, R. A. (2011). Health supervision for children with fragile X syndrome. Pediatrics, 127(5), 994–1006. https://doi.org/10.1542/peds.2010-3500.

    Article  PubMed  Google Scholar 

  • Hirota, T., So, R., Kim, Y. S., Leventhal, B., & Epstein, R. A. (2018). A systematic review of screening tools in non-young children and adults for autism spectrum disorder. Research in Developmental Disabilities, 80, 1–12. https://doi.org/10.1016/j.ridd.2018.05.017.

    Article  PubMed  Google Scholar 

  • Hoffmann, A., & Berry-Kravis, E. (2016). Assessment of social skills in females with fragile X syndrome: Discrepancies between the SRS-2 and clinical judgment. Paper presented at the 40th annual Gatlinburg conference on research and theory in intellectual and developmental disabilities.

  • Holsen, L. M., Dalton, K. M., Johnstone, T., & Davidson, R. J. (2008). Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome. Neuroimage, 43(3), 592–604. https://doi.org/10.1016/j.neuroimage.2008.08.009.

    Article  PubMed  PubMed Central  Google Scholar 

  • Huerta, M., & Lord, C. (2012). Diagnostic evaluation of autism spectrum disorders. Pediatric Clinics of North America, 59(1), 103–111. https://doi.org/10.1016/j.pcl.2011.10.018.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hus, V., Bishop, S., Gotham, K., Huerta, M., & Lord, C. (2013). Factors influencing scores on the social responsiveness scale. Journal of Child Psychology and Psychiatry, 54(2), 216–224. https://doi.org/10.1111/j.1469-7610.2012.02589.x.

    Article  PubMed  Google Scholar 

  • Ji, N. Y., Capone, G. T., & Kaufmann, W. E. (2011). Autism spectrum disorder in down syndrome: Cluster analysis of aberrant behaviour checklist data supports diagnosis. Journal of Intellectual Disability Research, 55(11), 1064–1077. https://doi.org/10.1111/j.1365-2788.2011.01465.x.

    Article  PubMed  Google Scholar 

  • Kau, A. S. M., Tierney, E., Bukelis, I., Stump, M. H., Kates, W. R., Trescher, W. H., et al. (2004). Social behavior profile in young males with fragile X syndrome: Characteristics and specificity. American Journal of Medical Genetics Part A, 126A(1), 9. https://doi.org/10.1002/ajmg.a.20218.

    Article  PubMed  Google Scholar 

  • Kaufmann, W. E., Cortell, R., Kau, A. S., Bukelis, I., Tierney, E., Gray, R. M., et al. (2004). Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. American Journal of Medical Genetics Part A, 129A(3), 225–234.

    Article  Google Scholar 

  • Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., et al. (2017). Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment. Pediatrics, 139(Suppl 3), S194–S206. https://doi.org/10.1542/peds.2016-1159F.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kidd, S. A., Lachiewicz, A., Barbouth, D., et al. (2014). Fragile X syndrome: A review of associated medical problems. Pediatrics, 134(5), 995–1005.

    Article  Google Scholar 

  • Kim, S. H., & Lord, C. (2012). Combining information from multiple sources for the diagnosis of autism spectrum disorders for toddlers and young preschoolers from 12 to 47 months of age. Journal of Child Psychology and Psychiatry, 53(2), 143–151. https://doi.org/10.1111/j.1469-7610.2011.02458.x.

    Article  PubMed  Google Scholar 

  • Klusek, J., Martin, G., & Losh, M. (2014). Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. Journal of Intellectual Disability Research, 58, 940–952.

    Article  Google Scholar 

  • Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., et al. (2006). Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 50(Pt 7), 532–545.

    Article  Google Scholar 

  • Liu, J. A., Hagerman, R. J., Miller, R. M., Craft, L. T., Finucane, B., Tartaglia, N., et al. (2016). Clinicians’ experiences with the fragile X clinical and research consortium. American Journal of Medical Genetics Part A, 170(12), 3138–3143. https://doi.org/10.1002/ajmg.a.37948.

    Article  PubMed  Google Scholar 

  • Lord, C., Risi, S., DiLavore, P. S., Shulman, C., Thurm, A., & Pickles, A. (2006). Autism from 2 to 9 years of age. Archives of General Psychiatry, 63(6), 694–701. https://doi.org/10.1001/archpsyc.63.6.694.

    Article  PubMed  Google Scholar 

  • Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., et al. (1989). Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders, 19(2), 185–212.

    Article  Google Scholar 

  • Losh, M., Martin, G. E., Klusek, J., Hogan-Brown, A. L., & Sideris, J. (2012). Social communication and theory of mind in boys with autism and fragile X syndrome. Frontiers in Psychology, 3, 266.

    Article  Google Scholar 

  • Magyar, C. I., Pandolfi, V., & Dill, C. A. (2012). An initial evaluation of the Social Communication Questionnaire for the assessment of autism spectrum disorders in children with down syndrome. Journal of Developmental and Behavioral Pediatrics, 33(2), 134–145. https://doi.org/10.1097/DBP.0b013e318240d3d9.

    Article  PubMed  Google Scholar 

  • Mahjouri, S., & Lord, C. E. (2012). What the DSM-5 portends for research, diagnosis, and treatment of autism spectrum disorders. Current Psychiatry Reports, 14(6), 739–747. https://doi.org/10.1007/s11920-012-0327-2.

    Article  PubMed  Google Scholar 

  • Mayes, S. D., Calhoun, S. L., Murray, M. J., & Zahid, J. (2011). Variables associated with anxiety and depression in children with autism. Journal of Developmental and Physical Disabilities, 23(4), 325–337. https://doi.org/10.1007/s10882-011-9231-7.

    Article  Google Scholar 

  • McLennan, Y., Polussa, J., Tassone, F., & Hagerman, R. (2011). Fragile x syndrome. Current Genomics, 12(3), 216–224. https://doi.org/10.2174/138920211795677886.

    Article  PubMed  PubMed Central  Google Scholar 

  • Molloy, C. A., Murray, D. S., Akers, R., Mitchell, T., & Manning-Courtney, P. (2011). Use of the autism diagnostic observation schedule (ADOS) in a clinical setting. Autism, 15(2), 143–162. https://doi.org/10.1177/1362361310379241.

    Article  PubMed  Google Scholar 

  • Moss, J., Howlin, P., Hastings, R. P., Beaumont, S., Griffith, G. M., Petty, J., et al. (2013). Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. American Journal on Intellectual and Developmental Disabilities, 118(4), 262–283. https://doi.org/10.1352/1944-7558-118.4.262.

    Article  PubMed  Google Scholar 

  • Moul, C., Cauchi, A., Hawes, D. J., Brennan, J., & Dadds, M. R. (2015). Differentiating autism spectrum disorder and overlapping psychopathology with a brief version of the social responsiveness scale. Child Psychiatry and Human Development, 46(1), 108–117. https://doi.org/10.1007/s10578-014-0456-4.

    Article  PubMed  Google Scholar 

  • Nelson, A. T., Lopata, C., Volker, M. A., Thomeer, M. L., Toomey, J. A., & Dua, E. (2016). Exploratory factor analysis of SRS-2 teacher ratings for youth with ASD. Journal of Autism and Developmental Disorders, 46(9), 2905–2915. https://doi.org/10.1007/s10803-016-2822-5.

    Article  PubMed  Google Scholar 

  • Norris, M., & Lecavalier, L. (2010). Evaluating the use of exploratory factor analysis in developmental disability psychological research. Journal of Autism and Developmental Disorders, 40(1), 8–20. https://doi.org/10.1007/s10803-009-0816-2.

    Article  PubMed  Google Scholar 

  • Oberman, L. M., Boccuto, L., Cascio, L., Sarasua, S., & Kaufmann, W. E. (2015). Autism spectrum disorder in Phelan-McDermid syndrome: Initial characterization and genotype-phenotype correlations. Orphanet Journal of Rare Diseases, 10(1), 105.

    Article  Google Scholar 

  • Ozonoff, S., Goodlin-Jones, B. L., & Solomon, M. (2005). Evidence-based assessment of autism spectrum disorders in children and adolescents. J Clin Child Adolesc Psychol, 34(3), 523–540. https://doi.org/10.1207/s15374424jccp3403_8.

    Article  PubMed  Google Scholar 

  • Risi, S., Lord, C., Gotham, K., Corsello, C., Chrysler, C., Szatmari, P., et al. (2006). Combining information from multiple sources in the diagnosis of autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 45(9), 1094–1103. https://doi.org/10.1097/01.chi.0000227880.42780.0e.

    Article  PubMed  Google Scholar 

  • Rosenberg, R. E., Kaufmann, W. E., Law, J. K., & Law, P. A. (2011). Parent report of community psychiatric comorbid diagnoses in autism spectrum disorders. Autism Research and Treatment. https://doi.org/10.1155/2011/405849.

    Article  PubMed  PubMed Central  Google Scholar 

  • Rutter, M., Bailey, A., & Lord, C. (2003). The social communication questionnaire: Manual. Los Angeles: Western Psychological Services.

    Google Scholar 

  • Sansone, S. M., Widaman, K. F., Hall, S. S., Reiss, A. L., Lightbody, A., Kaufmann, W. E., et al. (2012). Psychometric study of the aberrant behavior checklist in fragile X syndrome and implications for targeted treatment. Journal of Autism and Developmental Disorders, 42(7), 1377–1392.

    Article  Google Scholar 

  • Sappok, T., Brooks, W., Heinrich, M., McCarthy, J., & Underwood, L. (2017). Cross-cultural validity of the Social Communication Questionnaire for adults with intellectual developmental disorder. Journal of Autism and Developmental Disorders, 47(2), 393–404. https://doi.org/10.1007/s10803-016-2967-2.

    Article  PubMed  Google Scholar 

  • Sherman, S. L., Kidd, S. A., Riley, C., Berry-Kravis, E., Andrews, H. F., Miller, R. M., et al. (2017). FORWARD: A registry and longitudinal clinical database to study fragile X syndrome. Pediatrics, 139(Suppl 3), S183–S193. https://doi.org/10.1542/peds.2016-1159E.

    Article  PubMed  PubMed Central  Google Scholar 

  • Takei, R., Matsuo, J., Takahashi, H., Uchiyama, T., Kunugi, H., & Kamio, Y. (2014). Verification of the utility of the social responsiveness scale for adults in non-clinical and clinical adult populations in Japan. BMC Psychiatry, 14, 302. https://doi.org/10.1186/s12888-014-0302-z.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tehrani-Doost, M., Shahrivar, Z., Torabi, N., Ansari, S., Haji-Esmaeelzadeh, M., & Saeed-Ahmadi, S. (2018). Cross-cultural validation and normative data of the Social Responsiveness Scale in a group of Iranian general child population. Journal of Autism and Developmental Disorders. https://doi.org/10.1007/s10803-018-3773-9.

    Article  Google Scholar 

  • Underwood, L., & McCarthy, J. (2017). Outcomes for adults with autism spectrum disorders and intellectual disability. In B. Barahona Correa & R.-J. Vander Gaag (Eds.), Autism spectrum disorder in adults (pp. 111–128). Switzerland: Springer International Publishing.

    Chapter  Google Scholar 

  • Waite, J., Moss, J., Beck, S. R., Richards, C., Nelson, L., Arron, K., et al. (2015). Repetitive behavior in Rubinstein-Taybi syndrome: Parallels with autism spectrum phenomenology. Journal of Autism and Developmental Disorders, 45(5), 1238–1253. https://doi.org/10.1007/s10803-014-2283-7.

    Article  PubMed  Google Scholar 

  • Wigham, S., McConachie, H., Tandos, J., Le Couteur, A. S., & Gateshead Millennium Study core, t. (2012). The reliability and validity of the Social Responsiveness Scale in a UK general child population. Research in Developmental Disabilities, 33(3), 944–950. https://doi.org/10.1016/j.ridd.2011.12.017.

    Article  PubMed  Google Scholar 

  • Willemsen, R., Levenga, J., & Oostra, B. A. (2011). CGG repeat in the FMR1 gene: Size matters. Clinical Genetics, 80(3), 214–225. https://doi.org/10.1111/j.1399-0004.2011.01723.x.

    Article  PubMed  PubMed Central  Google Scholar 

  • Witwer, A. N., & Lecavalier, L. (2007). Autism screening tools: an evaluation of the Social Communication Questionnaire and the developmental behaviour checklist-autism screening algorithm. Journal of Intellectual Developmental Disability, 32(3), 179–187. https://doi.org/10.1080/13668250701604776.

    Article  PubMed  Google Scholar 

  • Wolff, J. J., Bodfish, J. W., Hazlett, H. C., Lightbody, A. A., Reiss, A. L., & Piven, J. (2012). Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. Journal of the American Academy of Child and Adolescent Psychiatry, 51(12), 1324–1332.

    Article  Google Scholar 

Download references

Acknowledgments

This publication was supported by cooperative agreements #U01DD000231, #U19DD000753 and # U01DD001189, Funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Disease Control and Prevention or the Department of Health and Human Services. We thank the families and individuals with fragile X syndrome that contributed their information to the FORWARD Registry and Database.

Author information

Authors and Affiliations

  1. School of Nursing, University of California, 2 Koret Way, N707A, San Francisco, CA, 94143, USA

    Sharon A. Kidd

  2. Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL, USA

    Elizabeth Berry-Kravis

  3. Division of Biostatistics and Data Coordination, New York State Psychiatric Institute, New York, NY, USA

    Tse Hwei Choo & Chen Chen

  4. Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

    Amy Esler

  5. Departments of Speech and Communication Disorders and Pediatrics, Rush University Medical Center, Chicago, IL, USA

    Anne Hoffmann

  6. Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA

    Howard F. Andrews

  7. Greenwood Genetic Center, Greenwood, SC, USA

    Walter E. Kaufmann

  8. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

    Walter E. Kaufmann

  9. MIND Institute, Department of Neurology, University of California Davis, Sacramento, CA, USA

    Walter E. Kaufmann

Authors
  1. Sharon A. Kidd
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Elizabeth Berry-Kravis
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Tse Hwei Choo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Chen Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Amy Esler
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Anne Hoffmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Howard F. Andrews
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Walter E. Kaufmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

SAK conceived of the study, participated in its design and coordination, participated in the interpretation and drafting of results, and drafted the manuscript. EBK conceived of the study, participated in its design and coordination, and drafted the manuscript. THC performed the statistical analyses and assisted in interpretation of results. CC performed the statistical analyses and assisted in interpretation of results. AE assisted in drafting the manuscript and assisted with measurement issues. AH assisted in drafting the manuscript and assisted with measurement issues. HFA oversaw the statistical analyses and assisted with drafting the manuscript. WEK conceived of the study, participated in its design and coordination, participated in the interpretation and drafting of results, and drafted the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Sharon A. Kidd.

Ethics declarations

Conflict of interest

The authors declare no conflict of interest related to this study.

Ethical Approval

All procedures 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.

Informed Consent

Informed consent was obtained from all individual participants or their guardian(s) included in the study after the nature of the procedure had been fully explained.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kidd, S.A., Berry-Kravis, E., Choo, T.H. et al. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord 50, 3276–3295 (2020). https://doi.org/10.1007/s10803-019-04148-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10803-019-04148-0

Keywords

Search

Navigation