Cover not available
Part of
Typical and Impaired Processing in Morphosyntax
Edited by Vincent Torrens
[Language Acquisition and Language Disorders 64] 2020
► pp. 209–238

Language impairment in an Italian child with Trisomy X

Assessment and intervention

| Ca’ Foscari University of Venice
| Ca’ Foscari University of Venice
This study deals with the case of Emma, an Italian 8-year-old girl affected by a sex chromosome anomaly called Trisomy X and diagnosed with Expressive Language Impairment. Language assessment of both comprehension and production was conducted through standardized and non-standardized, experimental tests. Passive, cleft, wh-sentences, and relative clauses with manipulation of number features were tested, in addition to clitic pronouns. Her spontaneous production was also assessed. Emma has problems with functional words realizing the highest portion of nominal structure: articles, prepositions, and clitic pronouns. Given her very good cognitive abilities, Emma was administered a tailor-made language intervention focused on functional elements, namely determiners and prepositions, aimed at enhancing her language awareness. During language intervention, use of Italian Sign Language (LIS) was crucial to boost lexical retrieval of functional prepositions and pluri-syllabic lexical words.
Keywords: Trisomy X, language assessment, Italian
Article outline
  • 1.Introduction
  • 2.State of the art on Trisomy X
    • 2.1The syndrome
    • 2.2Physical characteristics
    • 2.3Cognitive and psychological characteristics
    • 2.4Linguistic characteristics
  • 3.The participant
  • 4.Profiles of the tests
  • 5.Tests before treatment
    • 5.1Comprehension
    • 5.2Production and repetition
    • 5.3Grammaticality judgements
    • 5.4Working memory and auditory discrimination
  • 6.Language intervention
    • 6.1The “holes” metaphor
    • 6.2The support of Italian Sign Language
  • 7.Results after treatment
    • 7.1Comprehension
    • 7.2Production and repetition
    • 7.3Grammaticality judgements
    • 7.4Working memory and auditory discrimination
    • 7.5Production of articles
    • 7.6Production of prepositions
  • 8.Discussion
  • 9.Conclusion
  • Notes
  • References
Published online: 21 October 2020
DOI logo
https://doi.org/10.1075/lald.64.10lan
References (80)
References
Adani, F., Van der Lely, H. K. J., Forgiarini, M., & Guasti M. T. (2010). Grammatical feature dissimilarities make relative clauses easier: A comprehension study with Italian children. Lingua, 120, 2148–2166. DOI logoGoogle Scholar
Arosio, F., Branchini, C., Barbieri, L., & Guasti, M. T. (2014). Failure to produce direct object clitic pronouns as a clinical marker of SLI in school-aged Italian speaking children. Clinical Linguistics & Phonetics, 28(9), 639–663. DOI logoGoogle Scholar
Bender, B. G., Fry, E., Pennington, B., Puck, M., Salbenblatt, J., & Robinson, A. (1983). Speech and language development in 41 children with sex chromosome anomalies. Pediatrics, 71(2), 262–267.Google Scholar
Bender, B. G., Harmon, R. J., Linden, M. G., & Robinson, A. (1995). Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics, 96(2), 302–308.Google Scholar
Bender, B. G., Linden, M. G., & Harmon, R. J. (2001). Life adaptation in 35 adults with sex chromosome abnormalities. Genetics in Medicine, 3(3), 187–191. DOI logoGoogle Scholar
Bender, B. G., Linden, M. G., & Robinson, A. (1989). Verbal and spatial processing efficiency in 32 children with sex chromosome abnormalities. Pediatric Research, 25(6), 577–579. DOI logoGoogle Scholar
(1993). Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities. American Journal of Medical Genetics Part A, 48(3), 169–173. DOI logoGoogle Scholar
Bender, B. G., Puck, M. H., Salbenblatt, J. A., & Robinson, A. (1990). Cognitive development of children with sex chromosome abnormalities. In C. S. Holmes (Ed.), Psychoneuroendocrinology (pp. 138–163). New York, NY: Springer. DOI logoGoogle Scholar
Bishop, D. V. M. (1987). The causes of specific developmental language disorder (“developmental dysphasia”). Journal of Child Psychology and Psychiatry, 28(1), 1–8. DOI logoGoogle Scholar
(2009). TROG 2: Test for Reception of Grammar-Version 2. Firenze: Edizioni Giunti OS.Google Scholar
Bishop, D. V. M., Jacobs, P. A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P. A., […], & Scerif, G. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96(10): 954–959. DOI logoGoogle Scholar
Bisiacchi, P. S., Cendron, M., Gugliotta, M., Tressoldi, P. E., & Vio, C. (2005). BVN 5-11: Batteria di valutazione neuropsicologica per l'età evolutiva. Trento: Erickson.Google Scholar
Bottari, P., Cipriani, P., & Chilosi, A. M. (1993/94). Protosyntactic devices in the acquisition of Italian free morphology. Language Acquisition, 3(4), 327–369. DOI logoGoogle Scholar
(1996). Root infinitives in Italian SLI children. In BUCLD 20: Proceedings of the 20th Annual Boston University Conference on Language Development (Vol. 1, pp. 75–86). Somerville, MA: Cascadilla Press. Google Scholar
Bottari, P., Cipriani, P., Chilosi, A. M., & Pfanner, L. (1998). The determiner system in a group of Italian children with SLI. Language Acquisition, 7(2-4), 285–315. DOI logoGoogle Scholar
Cagnin, L. (2017). The name-sign test (Unpublished manuscript). Ca’ Foscari University of Venice.
Camaioni, L. & Di Blasio, P. (1978). Sviluppo del linguaggio. Bologna: Il Mulino.Google Scholar
Cardinaletti, A. (2016). Sui limiti dei pronomi clitici: Inventario ed estrazione. In A. Ledgeway, M. Cennamo, & G. Mensching (Eds.), Actes du XXVIIe Congrès International de Linguistique et de Philologie Romanes (Nancy, 15–20 juillet 2013). Section 4: Syntaxe (pp. 48–62). Nancy: ATILF.Google Scholar
Chilosi, A. M., & Cipriani, P. (1995/2006). TCGB: Test di comprensione grammaticale per bambini: Manuale. Tirrenia: Edizioni del Cerro. Google Scholar
Contemori, C., & Garraffa, M. (2010). Comparison of modalities in SLI syntax: A study on the comprehension and production of non-canonical sentences. Lingua, 120(8), 1940–1955. DOI logoGoogle Scholar
Del Puppo, G. (2016). On the acquisition of focus: Elicited production of cleft sentences and wh-questions by school-aged, Italian-speaking children (Unpublished doctoral dissertation). Ca’ Foscari University of Venice.
Del Puppo, G., Volpato, F., Padovani, R., Zavattiero, P., & Lusuardi A. (2016). Valutare la competenza sintattica di bambini con Disturbo Specifico del Linguaggio. Poster presented at the conference CLASTA VII (Communication & Language Acquisition Studies in Typical & Atypical Populations), Calambrone, Pisa, 29–30 April 2016.
DeLisi, L. E., Friedrich, U., Wahlstrom, J., Boccio-Smith, A., Forsman, A., Eklund, K., & Crow, T. J. (1994). Schizophrenia and sex chromosome anomalies. Schizophrenia Bulletin, 20(3), 495–505. DOI logoGoogle Scholar
D’Odorico, L., Bortolini, U., De Gasperi, L., & Assanelli, A. (1999). Capacità fonologiche e sviluppo lessicale: Quale relazione. Poster presented at the Primo Congresso Nazionale della sezione di Psicologia Clinica , Capri, 29–30 September 1999.
Fanzago, F. (1983). Test di valutazione dell’articolazione. Quaderni di Acta Phoniatrica Latina, 2, 80–85.Google Scholar
Fasolo, M., Majorano, M., & D’Odorico, L. (2008). Babbling and first words in children with slow expressive development. Clinical Linguistics & Phonetics, 22(2), 83–94. DOI logoGoogle Scholar
Friedmann, N. (1998). Functional categories in agrammatic production: A cross- linguistic study (Unpublished doctoral dissertation). Tel Aviv University.
(1999). “That” and “what” in agrammatic aphasia. Brain and Language, 69(3), 365–367.Google Scholar
Friedmann, N., & Grodzinsky, Y. (1997). Tense and agreement in agrammatic production: Pruning the syntactic tree. Brain and Language, 56(3), 397–425. DOI logoGoogle Scholar
Friedmann, N. A., & Grodzinsky, Y. (2000). Split inflection in neurolinguistics. In M.-A. Friedemann & L. Rizzi (Eds.), The acquisition of syntax (pp. 84–104). London: Longman.Google Scholar
Frugarello, P. (2013). The role of marked number features in the agrammatic comprehension of object relative clauses (Unpublished MA thesis). Ca’ Foscari University of Venice.
Gardner, R. M., Sutherland, G. R., & Shaffer, L. G. (2011). Chromosome abnormalities and genetic counseling. Oxford: Oxford University Press. DOI logoGoogle Scholar
Garvey, M., & Mutton, D. E. (1973). Sex chromosome aberrations and speech development. Archives of Disease in Childhood, 48(12), 937. DOI logoGoogle Scholar
Geschwind, D. H., Boone, K. B., Miller, B. L., & Swerdloff, R. S. (2000). Neurobehavioral phenotype of Klinefelter syndrome. Developmental Disabilities Research Reviews, 6(2), 107–116. DOI logoGoogle Scholar
Guasti, M. T. (1993/94). Verb syntax in Italian child grammar: Finite and nonfinite verbs. Language Acquisition, 3(1), 1–40. DOI logoGoogle Scholar
Guasti, M. T., Branchini, C., & Arosio, F. (2012). Interference in the production of Italian subject and object wh-questions. Applied Psycholinguistics, 33(1), 185–223. DOI logoGoogle Scholar
Hirsch, C., & Wexler, K. (2006). Children’s passives and their resulting interpretation. The proceedings of the Inaugural Conference on Generative Approaches to Language Acquisition–North America. University of Connecticut Occasional Papers in Linguistics, 4, 125–136.Google Scholar
Hook, E. B. (1983). Chromosome abnormalities and spontaneous fetal death following amniocentesis: Further data and associations with maternal age. American Journal of Human Genetics, 35(1), 110–116.Google Scholar
(1992). Chromosome abnormalities: Prevalence, risks and recurrence. In D. J. H. Brock, C. H. Rodeck, & M. A. Ferguson Smith (Eds.), Prenatal diagnosis and screening (pp. 351–392). Edinburgh: Churchill Livingstone.Google Scholar
Jacobs, P., Baikie, A. G., Brown, W. C., Macgregor, T. N., Maclean, N., & Harnden, D. G. (1959). Evidence for the existence of the human “super female”. The Lancet, 274(7100), 423–425. DOI logoGoogle Scholar
Kusumi, Y., & Prange Jr, A. J. (1973). Triple mosaicism of X-chromosomes with bipolar affective psychosis. Diseases of the Nervous System, 34(2), 94–97.Google Scholar
Lennox, B. (1960). Use of the term ‘superfemale’. The Lancet, 275(7114), 55. DOI logoGoogle Scholar
Lenroot, R. K., Blumenthal, J. D., Wallace, G. L., Clasen, L. S., Lee, N. R., & Giedd, J. N. (2014). A case-control study of brain structure and behavioral characteristics in 47, XXX syndrome. Genes, Brain and Behavior, 13(8), 841–849. DOI logoGoogle Scholar
Levorato, M. C., & Roch, M. (2007). TOR. Test di comprensione del testo orale 3-8 anni. Firenze: Giunti OS.Google Scholar
Levy, H., & Friedmann, N. (2009). Treatment of syntactic movement in syntactic SLI: A case study. First Language, 29(1), 15–49. DOI logoGoogle Scholar
Liebezeit, B. U., Rohrer, T. R., Singer, H., & Doerr, H. G. (2003). Tall stature as presenting symptom in a girl with triple X syndrome. Journal of Pediatric Endocrinology and Metabolism, 16(2), 233–236. DOI logoGoogle Scholar
Linden, M. G., Bender, B. G., Harmon, R. J., Mrazek, D. A., & Robinson, A. (1988). 47, XXX: What is the prognosis? Pediatrics, 82(4), 619–630.Google Scholar
Linebarger, M. C., Schwartz, M. F., & Saffran, E. M. (1983). Sensitivity to grammatical structure in so-called agrammatic aphasics. Cognition, 13(3), 361–392. DOI logoGoogle Scholar
Longobardi, G. (1994). Reference and proper names: A theory of N-movement in syntax and logical form. Linguistic Inquiry, 25(4), 609–665.Google Scholar
Marinis, T., & Armon-Lotem, S. (2015). Sentence repetition. In S. Armon-Lotem, J. de Jong, & N. Meir (Eds.), Assessing multilingual children: Disentangling bilingualism from language impairment (pp. 95–122). Bristol: Multilingual Matters.Google Scholar
Meschede, D., & Horst, J. (1997). Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: A case for genetic counselling. Human Reproduction, 12(6), 1125–1127. DOI logoGoogle Scholar
Netley, C. T. (1986). Summary overview of behavioural development in individuals with neonatally identified X and Y aneuploidy. Birth Defects Original Article Series, 22(3), 293–306.Google Scholar
Netley, C. T., & Rovet, J. F. (1982). Verbal deficits in children with 47,XXY and 47,XXX karyotypes: A descriptive and experimental study. Brain and Language, 17(1), 58–72. DOI logoGoogle Scholar
Otter, M., Schrander-Stumpel, C. T., & Curfs, L. M. (2010). Triple X syndrome: A review of the literature. European Journal of Human Genetics, 18(3), 265–271. DOI logoGoogle Scholar
Patwardhan, A. J., Brown, W. E., Bender, B. G., Linden, M. G., Eliez, S., & Reiss, A. L. (2002). Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes. American Journal of Medical Genetics, 114(1), 93–98. DOI logoGoogle Scholar
Pennington, B. F., Bender, B., Puck, M., Salbenblatt, J., & Robinson, A. (1982). Learning disabilities in children with sex chromosome anomalies. Child Development, 53(5), 1182–1192. DOI logoGoogle Scholar
Pennington, B. F., Puck, M., & Robinson, A. (1980). Language and cognitive development in 47, XXX females followed since birth. Behavior Genetics, 10(1), 31–41. DOI logoGoogle Scholar
Pennington, B. F., & Smith, S. D. (1983). Genetic influences on learning disabilities and speech and language disorders. Child Development, 54(2), 369–387. DOI logoGoogle Scholar
Polišenská, K., Chiat, S., & Roy, P. (2015). Sentence repetition: What does the task measure? International Journal of Language & Communication Disorders, 50, 106–118. DOI logoGoogle Scholar
Pozzan, L. (2007). A dissociation between clitics and determiners in a group of Italian SLI children. In Proceedings of the 8th CUNY-SUNY-NYU Mini-conference, LIBA (Linguistics in the Big Apple: CUNY/NYU Working Papers in Linguistics). New York, NY: New York University.Google Scholar
Ratcliffe, S. (1999). Long term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80(2), 192–195. DOI logoGoogle Scholar
Ratcliffe, S. G., Masera, N., Pan, H., & McKie, M. (1994). Head circumference and IQ of children with sex chromosome abnormalities. Developmental Medicine & Child Neurology, 36(6), 533–544. DOI logoGoogle Scholar
Renfrew, C. E. (1991). The bus story: A test of continuous speech. Oxford: C. Renfrew.Google Scholar
Rizzi, L. (1997). The fine structure of the left periphery. In L. Haegeman (Ed.), Elements of grammar (pp. 281–337). Dordrecht: Springer. DOI logoGoogle Scholar
Robinson, A., Puck, M., Pennington, B., Borelli, J., & Hudson, M. (1978). Abnormalities of the sex chromosomes: A prospective study on randomly identified newborns. Birth Defects Original Article Series, 15(1), 203–241.Google Scholar
Roid, G. H., & Miller, L. J. (1997). Leiter-r. Leiter International Performance Scale– Revised. Wood Dale, IL: Stoelting CO.Google Scholar
Sabbadini, M., & Galloni, F. (2005). La scala di valutazione cognitiva LEITER-R: Aspetti generali, interpretazione e modalità di somministrazione. Berlin: Springer.Google Scholar
Salbenblatt, J. A., Meyers, D. C., Bender, B. G., Linden, M. G. & Robinson, A. (1989). Gross and fine motor development in 45, X and 47, XXX girls. Pediatrics, 84(4), 678–682.Google Scholar
Simpson, N. H., Addis, L., Brandler, W. M., Slonims, V., Clark, A., Watson, J., & Fairfax, B. P. (2014). Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Developmental Medicine & Child Neurology, 56(4), 346–353. DOI logoGoogle Scholar
Stella, G., Pizzoli, C., & Tressoldi, P. (2000). Peabody Picture Vocabulary Test-Revised: adattamento italiano e standardizzazione [Peabody Picture Vocabulary Test-Revised: Italian adaptation and standardization]. Torino: Omega Edizioni.Google Scholar
Tartaglia, N. R., Howell, S., Sutherland, A., Wilson, R. & Wilson, L. (2010). A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases, 11, 5–8.Google Scholar
Torrego, E. (1995). On the nature of clitic doubling. In H. Campos & P. Kemchinsky (Eds.), Evolution and revolution in linguistic theory (pp. 399–418). Washington, DC: Georgetown University Press.Google Scholar
Uriagereka, J. (1995). Aspects of the syntax of clitic placement in Western Romance. Linguistic Inquiry, 26(1), 79–123.Google Scholar
(2005). On the syntax of doubling. In L. Heggie & F. Ordóñez (Eds.), Clitic and affix combinations: Theoretical perspectives (pp. 343–374). Amsterdam: John Benjamins. DOI logoGoogle Scholar
Verin, L. (2010). Le frasi passive in età prescolare: Un test di comprensione e produzione e un’esperienza di lettura ad alta voce (Unpublished MA thesis). Ca’ Foscari University of Venice.
Volpato, F. (2010). The acquisition of relative clauses and phi-features: Evidence from hearing and hearing-impaired populations (Unpublished doctoral dissertation). Ca’ Foscari University of Venice.
(2012). The comprehension of relative clauses by hearing and hearing- impaired, cochlear-implanted children: the role of marked number features. In S. Ferré, P. Prévost, L. Tuller, & R. Zebib (Eds.), Selected proceedings of the Romance Turn IV Workshop on the Acquisition of Romance Languages (pp. 284–308). Newcastle upon Tyne: Cambridge Scholars.Google Scholar
Volpato, F., Verin, L. & Cardinaletti, A. (2016). The comprehension and production of verbal passives by Italian preschool-age children. Applied Psycholinguistics, 37(4), 901–931. DOI logoGoogle Scholar
Warwick, M. M., Doody, G. A., Lawrie, S. M., Kestelman, J. N., Best, J. J., & Johnstone, E. C. (1999). Volumetric magnetic resonance imaging study of the brain in subjects with sex chromosome aneuploidies. Journal of Neurology, Neurosurgery & Psychiatry, 66(5), 628–632. DOI logoGoogle Scholar
Woodhouse, W. J., Holland, A. J., McLean, G., & Reveley, A. M. (1992). The association between triple X and psychosis. The British Journal of Psychiatry, 160(4), 554–557. DOI logoGoogle Scholar