Evaluación de perfiles fonológicos en el síndrome x-frágil mediante índices de error

  1. Jonathan Huelmo García
  2. Verónica Martínez López 1
  3. Eliseo Díez Itza 1
  1. 1 Universidad de Oviedo
    info

    Universidad de Oviedo

    Oviedo, España

    ROR https://ror.org/006gksa02

Revista:
International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

ISSN: 0214-9877

Ano de publicación: 2017

Título do exemplar: La psicología hoy: retos, logros y perspectivas de futuro. Atención a la diversidad

Volume: 4

Número: 1

Páxinas: 67-76

Tipo: Artigo

DOI: 10.17060/IJODAEP.2017.N1.V4.1028 DIALNET GOOGLE SCHOLAR lock_openAcceso aberto editor

Outras publicacións en: International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

Resumo

The evaluation of phonological profiles in the fragile x syndrome through error rates Scientific advances over the past few decades have permitted the identification of the, until recently, relatively unknown syndromes within the non-specific field traditionally defined as “mental retardation or deficiency”. The study of these syndromes, among which is Fragile X syndrome (FXS), has allowed us to move from a static to a dynamic conception of intellectual disability which takes into account its development throughout the life cycle as a result of the interaction between its capacity for adaption and support. This paper, following the aforementioned model, is part of a broader project, “Syndroling Project” (Diez-Itza et al., 2014), establishing compared linguistic profiles in genetic evolution syndromes, and its objective is to analyze the phonological profiles of male adults with FXS. The study of the phonological profiles was carried out using samples of spontaneous speech by six male adults with FXS (average age = 38.6). The samples were collected and analyzed according to the RETAMHE method and the CHILDES project (Diez-Itza, Snow, & MacWhinney, 1999). The frequency and relative distribution of the different types and classes of processes (Syllabic structure, substitution, omission, and assimilation) were analyzed, and the phonological profiles were built from error rates calculated on lexical frequency. The results show a phonological profile specific to FXS, characterized by a relatively higher incidence of syllabic structuring and a lower incidence of substitution and omission than found in the typical development and in Down Syndrome. The phonological level in FXS could therefore be considered to closer to the good level observed in Williams Syndrome than to the specific difficulties of Down Syndrome; this opens the possibility of using it as a basis for speaking and reading intervention.

Referencias bibliográficas

  • Abbeduto, L., Brady, N. y Kover, S. (2007). Language development and Fragile X syndrome: Profiles, syndrome specificity and within syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews, 13, 36-46.
  • Abbeduto L. y Chapman, R.S. (2005). Language development in Down syndrome and Fragile X syndrome: Current research and implications for theory and practice. En P. Fletcher y J.F. Miller (Eds.), Trends in language acquisition research: Developmental theory and language disorders (pp. 44-72). Amsterdam: John Benjamins Publlishing.
  • Abbeduto, L. y Hagerman, R.J. (1997). Language and communication in fragile X syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 3, 313-322.
  • Abbeduto, L., Pavetto, M., Kesin, E., Weissman, M., Karadottir, S., O’Brient, A., Cawthon, S. (2001). The linguistic and cognitive profile of Down syndrome: Evidence from a comparison with fragile X syndrome. Down Syndrome Research and Practice, 7, 9-16.
  • Barnes, E., Roberts, J., Long, S.H., Martin, G.E., Berni, M.C. Mandulak, K.C. y Sideris, J. (2009). A comparison of oral structure and oral-Motor function in young males with Fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research, 52, 1048-1061.
  • Bennetto, L. y Pennington, B.F. (2002). The neuropsychology of fragile X syndrome. En R.J. Hagerman y A.C. Cronister (Eds.), Fragile X syndrome: Diagnosis, treatment, and research (pp. 210-248). Baltimore: The Johns Hopkins University Press.
  • Belser, R.C. y Sudhalter, V. (2001). Conversational characteristics of children with Fragile X syndrome: Repetitive speech. American Journal on Mental Retardation, 106(1), 28-38.
  • Bosch, L. (1983). Identificación de procesos fonológicos de simplificación en el habla infantil. Revista de Logopedia, Foniatría y Audiología, 2, 96-102.
  • Brun-Gasca, C. y Artiga-Pallarés, J. (2001). Aspectos psicolingüísticos en el síndrome del cromosoma X Frágil. Revista Neurológica, 33, 29-31.
  • Diez-Itza, E. (1995). Procesos fonológicos en la adquisición del español como lengua materna. En J.M. Ruiz, P. Sheerin y E. González-Cascos (Eds.), Actas del XI Congreso Nacional de Lingüística Aplicada (pp. 225-264). Valladolid: Universidad de Valladolid.
  • Diez-Itza, E., López, Mª, A., Martínez, V. y Miranda, M. (2016). Perfiles comparados de comprensión léxica en los síndromes de Williams, Down y X Frágil. XXX Congreso Internacional AELFAIF/CLPV. Bilbao.
  • Diez-Itza, E., López, Mª, A., Martínez, V., Miranda, M. y Huelmo, J. (2014). Lenguaje y comunicación en el síndrome X Frágil. En B. Medina, García, I., y Y. De Diego (Coords.), Síndrome X Frágil. Manual para profesionales y familiares (pp. 121-136). Tarragona: Altaria.
  • Diez-Itza, E., Martínez, V, Miranda, M., Antón, A., Fernández-Urquiza, M., Pérez, …, Shiro, M. (2014). “The Syndroling Project”: A comparative linguistic analysis of typical development profiles and neurodevelopmental genetic syndromes (Down, Williams, and Fragile X syndromes). XII International Congress for the Study of Child Language, Amsterdam.
  • Diez-Itza, E., Snow, C. y MacWhinney, V. (1999). La metodología RETAMHE y el proyecto CHILDES: Breviario para la codificación y análisis de lenguaje infantil. Psicotema, 11, 517-530.
  • Dunn, M. y Dunn, M. (1981). Test de Vocabulario en Imágenes Peabody (PPVT). Madrid: TEA. Garayzábal, E., Prieto, M. y Diez-Itza, E. (2010). Guía de intervención logopédica en el síndrome de Williams. Madrid: Síntesis.
  • Hanson, D.M., Jackson, A.W. y Hagerman, R.J. (1986). Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome. American Journal of Medical Genetics, 23, 195-206.
  • Ingram. D. (1976). Phonological disability in children. London: Edward Arnold.
  • Kittler, P.M., Krinsky-McHale, S.J. y Devenny, D.A. (2008). Dual-task processing as a measure of executive function: a comparison between adults with Williams and Down syndromes. American Journal of Mental Retardation, 113, 117-132. MacWhinney, B. (2000).
  • Martínez, V. (2010). Etapas tardías del desarrollo fonológico infantil: Procesos y límites del trastorno. Tesis doctoral. Universidad de Oviedo: Oviedo.
  • Palmer, K.K., Gordon, J.S., Coston, G.N. y Stevenson, R.E. (1988). Fragile X syndrome IV. Speech and language characteristics. Proceeding of Greenwood Genetic Center, 7, 93-97.
  • Paul, R., Cohen, D.J., Breg, W.R., Watson, M. y Herman, S. (1984). Fragile-X syndrome: Its relations to speech and language disorders. Journal of Speech and Hearing Disorders, 49, 326-336.
  • Philofsky, A., Fidler, D.J. y Hepburn, S. (2007). Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. American Journal of Speech Language Pathology, 16, 368-380.
  • Prouty, L.A., Rogers, R.C., Stevenson, R.E., Dean, J.H., Palmer, K.K., Simensen, R.J., et al. (1988). Fragile X syndrome: Growth, development, and intellectual function. American Journal of Medical Genetics, 30, 123-142.
  • Reiss, A.L. y Freund, L. (1992). Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. American Journal of Medical Genetics, 43, 35-46.
  • Roberts, J., Long, S.H., Malkin, C., Barnes, E., Skinner M., J. y Hennon, E. (2005). A comparison of phonological skills of boys with Fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research, 48, 980-995.
  • Roberts, J.E., Mirrett, P. y Burchinal, M. (2001). Receptive and expressive communication development of young males with fragile X syndrome. American Journal on Mental Retardation, 106, 216-230.
  • Roberts, J., Price, J., Barnes, E., Nelson, L., Burchinal, M., Hennon, E., …, y Barnes, E. (2007). Receptive vocabulary, expressive vocabulary, and speech production of boys with fragile X syndrome in comparison to boys with Down syndrome. American Journal on Mental Retardation, 112, 177-193.
  • Rondal, J.A. y Ling, D. (1995). Especificidad sindrómica del lenguaje en el retraso mental. Revista de Logopedia, Foniatría y Audiología, 15(1), 3-17.
  • Singer-Harris, N. G., Bellugi, U., Bates, E., Jones, W. y Rossen, M. L. (1997). Contrasting profiles of language development in children with Williams and Down syndromes. Developmental Neuropsychology, 13, 345-370.
  • Spinelli, M., Rocha, A., Giacheti, C. y Richieri-Costa, A. (1995). Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with Fragile X syndrome. American Journal of Medical Genetics, 60, 39-43.
  • Vilkman, E., Niemi, J. y Ikonen, U. (1988). Fragile X speech phonology in Finnish. Brain and Language, 34, 203-221.