Abstract
Pragmatic language is a characteristic weakness in the language profile of individuals with fragile X syndrome (FXS), the most frequent inherited cause of intellectual disability and among the most common known genetic causes of autism spectrum disorder (ASD). However, pragmatic language profiles in FXS are known to be highly heterogeneous, and influenced by other cognitive factors, sex, and ASD status. In this chapter, we review pragmatic strengths and weaknesses across males and females with FXS, including comparisons with individuals with Down syndrome (another form of intellectual disability) as well as the impact of ASD status on pragmatics in FXS. We also consider the role of related underlying mechanisms (e.g. theory of mind, hyperarousal) that may importantly impact pragmatic language profiles, and discuss sex-specific differences. We conclude this chapter with directions for continued investigation and clinical considerations for assessment and intervention.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Abbeduto, L., & Hagerman, R. J. (1997). Language and communication in fragile X syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 3(4), 313–322.
Abbeduto, L., Murphy, M. M., Kover, S. T., Giles, N. D., Karadottir, S., Amman, A., et al. (2008). Signaling noncomprehension of language: A comparison of fragile X syndrome and Down syndrome. American Journal of Mental Retardation, 113(3), 214–230.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). American Psychiatric Publishing.
American Speech-Language-Hearing Association (2005). Evidence-based practice in communication disorders. Position paper. Retrieved 4 July, 2019, from https://www.asha.org/policy/PS2005-00221/
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 of Autism and Developmental Disorders, 31(2), 165–174.
Barnes, E., Roberts, J., Long, S. H., Martin, G. E., Berni, M. C., Mandulak, K. C., & Sideris, J. (2009). Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. Journal of Speech, Language, and Hearing Research, 52(4), 1048–1061.
Barstein, J., Martin, G. E., Lee, M., & Losh, M. (2018). A duck wearing boots?! Pragmatic language strategies for repairing communication breakdowns across genetically based neurodevelopmental disabilities. Journal of Speech, Language, and Hearing Research, 61(6), 1440–1454.
Beaumont, R., & Sofronoff, K. (2008). A multi-component social skills intervention for children with Asperger syndrome: The junior detective training program. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 49(7), 743–753.
Belser, R. C., & Sudhalter, V. (1995). Arousal difficulties in males with fragile X syndrome: A preliminary report. Developmental Brain Dysfunction, 8(4–6), 270–279.
Borghgraef, M., Fryns, J. P., Dielkens, A., Pyck, K., & Van den Berghe, H. (1987). Fragile (X) syndrome: A study of the psychological profile in 23 prepubertal patients. Clinical Genetics, 32(3), 179–186.
Capps, L., Kehres, J., & Sigman, M. (1998). Conversational abilities among children with autism and children with developmental delays. Autism, 2(4), 325–344.
Casenhiser, D. M., Shanker, S. G., & Stieben, J. (2013). Learning through interaction in children with autism: Preliminary data from a social communication-based intervention. Autism: The International Journal of Research and Practice, 17(2), 220–241.
Cauvet, É., van’t Westeinde, A., Toro, R., Kuja-Halkola, R., Neufeld, J., Mevel, K., & Bölte, S. (2019). Sex differences along the autism continuum: A twin study of brain structure. Cerebral Cortex, 29(3), 1342–1350.
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.
Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. American Journal of Human Genetics, 85(4), 503–514.
Cohen, I. L. (1995). A theoretical analysis of the role of hyperarousal in the learning and behavior of fragile X males. Mental Retardation and Developmental Disabilities Research Reviews, 1(4), 286–291.
Cowley, J., & Glasgow, C. (1994). The Renfrew bus story: Language screening by narrative recall – Examiner’s manual. The Centerville School.
Dollaghan, C. A., Campbell, T. F., & Tomlin, R. (1990). Video narration as a language sampling context. Journal of Speech and Hearing Disorders, 55(3), 582–590.
Dollaghan, C. A., & Kaston, N. (1986). A comprehension monitoring program for language-impaired children. Journal of Speech and Hearing Disorders, 51(3), 264–271.
Estigarribia, B., Martin, G. E., Roberts, J., Spencer, A., Gucwa, A., & Sideris, J. (2011). Narrative skill in boys with fragile X syndrome with and without autism spectrum disorder. Applied PsychoLinguistics, 32(2), 359–388.
Finestack, L. H., Palmer, M., & Abbeduto, L. (2012). Macrostructural narrative language of adolescents and young adults with Down syndrome or fragile X syndrome. American Journal of Speech-Language Pathology, 21(1), 29–46.
Freund, L. S., Reiss, A. L., & Abrams, M. T. (1993). Psychiatric disorders associated with fragile X in the young female. Pediatrics, 91(2), 321–329.
Garner, C., Callias, M., & Turk, J. (1999). Executive function and theory of mind performance of boys with fragile-X syndrome. Journal of Intellectual Disability Research, 43(6), 466–474.
Grant, C. M., Apperly, I., & Oliver, C. (2007). Is theory of mind understanding impaired in males with fragile X syndrome? Journal of Abnormal Child Psychology, 35(1), 17–28.
Hagerman, P. J. (2008). The fragile X prevalence paradox. Journal of Medical Genetics, 45(8), 498–499.
Hagerman, R., & Hagerman, P. (Eds.). (2002). Fragile X syndrome: Diagnosis, treatment, and research (3rd ed.). Johns Hopkins University Press.
Hagerman, R. J., Hills, J., Scharfenaker, S., & Lewis, H. (1999). Fragile X syndrome and selective mutism. American Journal of Medical Genetics, 83(4), 313–317.
Hagerman, R. J., Jackson, C., Amiri, K., Silverman, A. C., O’Connor, R., & Sobesky, W. (1992). Girls with fragile X syndrome: Physical and neurocognitive status and outcome. Pediatrics, 89(3), 395–400.
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.
Hall, S. S., Lightbody, A. A., & Reiss, A. L. (2008). Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome. American Journal of Mental Retardation, 113(1), 44–53.
Halladay, A. K., Bishop, S., Constantino, J. N., Daniels, A. M., Koenig, K., Palmer, K., et al. (2015). Sex and gender differences in autism spectrum disorder: Summarizing evidence gaps and identifying emerging areas of priority. Molecular Autism, 6, 36. https://doi.org/10.1186/s13229-015-0019-y
Hanson, D. M., Jackson, A. W., & Hagerman, R. J. (1986). Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome. American Journal of Medical Genetics, 23(1–2), 195–206.
Hessl, D., Dyer-Friedman, J., Glaser, B., Wisbeck, J., Barajas, R. G., Taylor, A., & Reiss, A. L. (2001). The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics, 108(5), E88.
Hogan-Brown, A. L., Losh, M., Martin, G. E., & Mueffelmann, D. J. (2013). An investigation of narrative ability in boys with autism and fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 118(2), 77–94.
Hooper, S. R., Hatton, D., Sideris, J., Sullivan, K., Hammer, J., Schaaf, J., et al. (2008). Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: Baseline findings from a longitudinal study. Neuropsychology, 22(1), 36–47.
Jackson, C., Fein, D., Wolf, J., Jones, G., Hauck, M., Waterhouse, L., & Feinstein, C. (2003). Responses and sustained interactions in children with mental retardation and autism. Journal of Autism and Developmental Disorders, 33(2), 115–121.
Kasari, C., Kaiser, A., Goods, K., Nietfeld, J., Mathy, P., Landa, R., et al. (2014). Communication interventions for minimally verbal children with autism: A sequential multiple assignment randomized trial. Journal of the American Academy of Child and Adolescent Psychiatry, 53(6), 635–646.
Kaufmann, W. E., Cortell, R., Kau, A. S. M., 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.
Keller, H. (2003). A bed full of cats. Harcourt Children’s Books.
Keller-Bell, Y. D., Abbeduto, L., & Abbeduto, L. D. (2007). Narrative development in adolescents and young adults with fragile X syndrome. American Journal of Mental Retardation, 112(4), 289–299.
Klusek, J., Martin, G. E., & Losh, M. (2013). Physiological arousal in autism and fragile X syndrome: Group comparisons and links with pragmatic language. American Journal on Intellectual and Developmental Disabilities, 118(6), 475–495.
Klusek, J., Martin, G. E., & Losh, M. (2014a). Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. Journal of Intellectual Disability Research, 58(10), 940–952.
Klusek, J., Martin, G. E., & Losh, M. (2014b). A comparison of pragmatic language in boys with autism and fragile X syndrome. Journal of Speech, Language, and Hearing Research, 57(5), 1692–1707.
Lai, M.-C., Baron-Cohen, S., & Buxbaum, J. D. (2015). Understanding autism in the light of sex/gender. Molecular Autism, 6, 24. https://doi.org/10.1186/s13229-015-0021-4
Lee, M., Martin, G. E., Berry-Kravis, E., & Losh, M. (2016). A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. Journal of Neurodevelopmental Disorders, 8, 47. https://doi.org/10.1186/s11689-016-9179-0
Lesniak-Karpiak, K., Mazzocco, M. M. M., & Ross, J. L. (2003). Behavioral assessment of social anxiety in females with Turner or fragile X syndrome. Journal of Autism and Developmental Disorders, 33(1), 55–67.
Levy, Y., Gottesman, R., Borochowitz, Z., Frydman, M., & Sagi, M. (2006). Language in boys with fragile X syndrome. Journal of Child Language, 33(1), 125–144.
Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., & Schroeder, S. (2006). Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 50(7), 532–545.
Llaneza, D. C., DeLuke, S. V., Batista, M., Crawley, J. N., Christodulu, K. V., & Frye, C. A. (2010). Communication, interventions, and scientific advances in autism: A commentary. Physiology & Behavior, 100(3), 268–276.
Loesch, D. Z., Bui, Q. M., Grigsby, J., Butler, E., Epstein, J., Huggins, R. M., et al. (2003). Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology, 17(4), 646–657.
Loesch, D. Z., Huggins, R. M., Bui, Q. M., Epstein, J. L., Taylor, A. K., & Hagerman, R. J. (2002). Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis. Journal of Developmental and Behavioral Pediatrics, 23(6), 416–423.
Lord, C., Rutter, M., DeLavore, P. C., & Risi, S. (2001). Autism diagnostic observation schedule. 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(5), 659–685.
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. https://doi.org/10.3389/fpsyg.2012.00266
Loveland, K. A., Landry, S. H., Hughes, S. O., Hall, S. K., & McEvoy, R. E. (1988). Speech acts and the pragmatic deficits of autism. Journal of Speech and Hearing Research, 31(4), 593–604.
Madison, L. S., George, C., & Moeschler, J. B. (1986). Cognitive functioning in the fragile-X syndrome: A study of intellectual, memory and communication skills. Journal of Mental Deficiency Research, 30(2), 129–148.
Martin, G. E., Ausderau, K. K., Raspa, M., Bishop, E., Mallya, U., & Bailey, D. B. (2013a). Therapy service use among individuals with fragile X syndrome: Findings from a US parent survey. Journal of Intellectual Disability Research, 57(9), 837–849.
Martin, G. E., Barstein, J., Hornickel, J., Matherly, S., Durante, G., & Losh, M. (2017). Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder. Journal of Communication Disorders, 65, 22–34.
Martin, G. E., Bush, L., Klusek, J., Patel, S., & Losh, M. (2018). A multimethod analysis of pragmatic skills in children and adolescents with fragile X syndrome, autism spectrum disorder, and Down syndrome. Journal of Speech, Language, and Hearing Research, 61(12), 3023–3037.
Martin, G. E., Losh, M., Estigarribia, B., Sideris, J., & Roberts, J. (2013b). Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome. International Journal of Language & Communication Disorders, 48(4), 432–443.
Martin, G. E., Roberts, J., Helm-Estabrooks, N., Sideris, J., Vanderbilt, J., & Moskowitz, L. (2012). Perseveration in the connected speech of boys with fragile X syndrome with and without autism spectrum disorder. American Journal on Intellectual and Developmental Disabilities, 117(5), 384–399.
Mazzocco, M. M., Baumgardner, T., Freund, L. S., & Reiss, A. L. (1998). Social functioning among girls with fragile X or Turner syndrome and their sisters. Journal of Autism and Developmental Disorders, 28(6), 509–517.
Mazzocco, M. M., Thompson, L., Sudhalter, V., Belser, R. C., Lesniak-Karpiak, K., & Ross, J. L. (2006). Language use in females with fragile X or Turner syndrome during brief initial social interactions. Journal of Developmental and Behavioral Pediatrics, 27(4), 319–328.
Mesibov, G. B. (1992). Treatment issues with high-functioning adolescents and adults with autism. In E. Schopler & G. B. Mesibov (Eds.), High-functioning individuals with autism (pp. 143–155). Springer.
Messinger, D. S., Young, G. S., Webb, S. J., Ozonoff, S., Bryson, S. E., Carter, A., et al. (2015). Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study. Molecular Autism, 6, 32. https://doi.org/10.1186/s13229-015-0027-y
Munir, F., Cornish, K. M., & Wilding, J. (2000). Nature of the working memory deficit in fragile-X syndrome. Brain and Cognition, 44(3), 387–401.
Murphy, M. M., & Abbeduto, L. (2007). Gender differences in repetitive language in fragile X syndrome. Journal of Intellectual Disability Research, 51(5), 387–400.
Orsmond, G. I., Krauss, M. W., & Seltzer, M. M. (2004). Peer relationships and social and recreational activities among adolescents and adults with autism. Journal of Autism and Developmental Disorders, 34(3), 245–256.
Paul, R., Dykens, E., Leckman, J. F., Watson, M., Breg, W. R., & Cohen, D. J. (1987). A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism. Journal of Autism and Developmental Disorders, 17(4), 457–468.
Pesso, R., Berkenstadt, M., Cuckle, H., Gak, E., Peleg, L., Frydman, M., & Barkai, G. (2000). Screening for fragile X syndrome in women of reproductive age. Prenatal Diagnosis, 20(8), 611–614.
Philofsky, A., Hepburn, S. L., Hayes, A., Hagerman, R., & Rogers, S. J. (2004). Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. American Journal of Mental Retardation, 109(3), 208–218.
Price, J. R., Roberts, J., Hennon, E. A., Berni, M. C., Anderson, K. L., & Sideris, J. (2008). Syntactic complexity during conversation of boys with fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research, 51(1), 3–15.
Reiss, A. L., & Dant, C. C. (2003). The behavioral neurogenetics of fragile X syndrome: Analyzing gene-brain-behavior relationships in child developmental psychopathologies. Development and Psychopathology, 15(4), 927–968.
Rinehart, N. J., Cornish, K. M., & Tonge, B. J. (2011). Gender differences in neurodevelopmental disorders: Autism and fragile X syndrome. Current Topics in Behavioral Neurosciences, 8, 209–229.
Roberts, J. E., Boccia, M. L., Bailey, D. B., Hatton, D. D., & Skinner, M. (2001). Cardiovascular indices of physiological arousal in boys with fragile X syndrome. Developmental Psychobiology, 39(2), 107–123.
Roberts, J., Chapman, R., Martin, G. E., & Moskowitz, L. (2008). Language of preschool and school-age children with Down syndrome and fragile X syndrome. In J. E. Roberts, R. Chapman, & S. Warren (Eds.), Speech and language development and intervention in Down syndrome and fragile X syndrome (pp. 77–115). Paul H. Brookes.
Roberts, J., Hennon, E. A., Price, J. R., Dear, E., Anderson, K., & Vandergrift, N. A. (2007a). Expressive language during conversational speech in boys with fragile X syndrome. American Journal of Mental Retardation, 112(1), 1–17.
Roberts, J., Martin, G. E., Moskowitz, L., Harris, A. A., Foreman, J., & Nelson, L. (2007b). Discourse skills of boys with fragile X syndrome in comparison to boys with Down syndrome. Journal of Speech, Language, and Hearing Research, 50(2), 475–492.
Rogers, S. J., Wehner, D. E., & Hagerman, R. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental and Behavioral Pediatrics, 22(6), 409–417.
Simon, J. A., Keenan, J. M., Pennington, B. F., Taylor, A. K., & Hagerman, R. J. (2001). Discourse processing in women with fragile x syndrome: Evidence for a deficit establishing coherence. Cognitive Neuropsychology, 18(1), 1–18.
Sterling, A., & Abbeduto, L. (2012). Language development in school-age girls with fragile X syndrome. Journal of Intellectual Disability Research, 56(10), 974–983.
Sudhalter, V., & Belser, R. C. (2001). Conversational characteristics of children with fragile X syndrome: Tangential language. American Journal of Mental Retardation, 106(5), 389–400.
Sudhalter, V., Cohen, I. L., Silverman, W., & Wolf-Schein, E. G. (1990). Conversational analyses of males with fragile X, Down syndrome, and autism: Comparison of the emergence of deviant language. American Journal of Mental Retardation, 94(4), 431–441.
Sudhalter, V., Scarborough, H. S., & Cohen, I. L. (1991). Syntactic delay and pragmatic deviance in the language of fragile X males. American Journal of Medical Genetics, 28(2–3), 493–497.
Thompson, T., Caruso, M., & Ellerbeck, K. (2003). Sex matters in autism and other developmental disabilities. Journal of Intellectual Disabilities, 7(4), 345–362.
Thurman, A. J., Kover, S. T., Brown, W. T., Harvey, D. J., & Abbeduto, L. (2017). Noncomprehension signaling in males and females with fragile X syndrome. Journal of Speech, Language, and Hearing Research, 60(6), 1606–1621.
Van Bourgondien, M. E., & Woods, A. V. (1992). Vocational possibilities for high-functioning adults with autism. In E. Schopler & G. B. Mesibov (Eds.), High-functioning individuals with autism (pp. 227–239). Springer.
Warren, Z., McPheeters, M. L., Sathe, N., Foss-Feig, J. H., Glasser, A., & Veenstra-Vanderweele, J. (2011). A systematic review of early intensive intervention for autism spectrum disorders. Pediatrics, 127(5), e1303–e1311.
Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., et al. (1997). Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proceedings of the National Academy of Sciences of the United States of America, 94(10), 5395–5400.
Wolf-Schein, E. G., Sudhalter, V., Cohen, I. L., Fisch, G. S., Hanson, D., Pfadt, A. G., et al. (1987). Speech-language and the fragile X syndrome: Initial findings. ASHA, 29(7), 35–38.
Wilding, J., Cornish, K., & Munir, F. (2002). Further delineation of the executive deficit in males with fragile-X syndrome. Neuropsychologia, 40(8), 1343–1349.
Zajac, D. J., Harris, A. A., Roberts, J. E., & Martin, G. E. (2009). Direct magnitude estimation of articulation rate in boys with fragile X syndrome. Journal of Speech, Language, and Hearing Research, 52(5), 1370–1379.
Zajac, D. J., Roberts, J., Hennon, E. A., Harris, A. A., Barnes, E. F., & Misenheimer, J. (2006). Articulation rate and vowel space characteristics of young males with fragile X syndrome: Preliminary acoustic findings. Journal of Speech, Language, and Hearing Research, 49(5), 1147–1155.
Acknowledgements
The authors would like to acknowledge the support of grants R01MH091131, R01DC010191, and R01HD038819 from the National Institutes of Health.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2021 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Martin, G.E., Bush, L., Patel, S., Losh, M. (2021). Fragile X syndrome. In: Cummings, L. (eds) Handbook of Pragmatic Language Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-74985-9_4
Download citation
DOI: https://doi.org/10.1007/978-3-030-74985-9_4
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-74984-2
Online ISBN: 978-3-030-74985-9
eBook Packages: EducationEducation (R0)