COGNICIÓN Y LENGUAJE EN NIÑOS CRI-DU-CHAT Y DOWN. AVANCES DE UN ESTUDIO COMPARATIVO

María Paz Fernández Lozano; Aníbal Puente Ferreras

doi:10.22235/cp.v4i1.113

Autores/as

María Paz Fernández Lozano Universidad Complutense de Madrid
Aníbal Puente Ferreras Universidad Complutense de Madrid

DOI:

https://doi.org/10.22235/cp.v4i1.113

Palabras clave:

Síndrome Down, Síndrome Cri-du-Chat, retardo mental, cognición, lenguaje, anormalidades cromosómicas, memoria, atención

Resumen

La genética humana ofrece la posibilidad de comprender enfermedades que hasta hace poco tiempo eran desconocidas, tales como el Cri-du-Chat (CDC), X frágil y Prader-Willi entre otras. Descubrir la etiología genética de una enfermedad es importante pero no agota la información necesaria para rehabilitar a los afectados. Hasta hoy no existe un tratamiento médico restaurador para el Cri-du-Chat y el síndrome Down (SD). El propósito del trabajo es conocer el funcionamiento cognitivo y lingüístico de estas personas y analizar de qué forma estos factores contribuyen a mejorar su rendimiento académico y personal. Se trata de un estudio comparativo de los patrones de conducta observados en los SD y CDC. Para el logro del objetivo revisamos la literatura reciente tomando en cuenta la etiología, el diagnóstico, la evolución de la enfermedad, la intervención, etc. Un resultado significativo es que el conocimiento de los CDC es todavía muy escaso en comparación con el desarrollo alcanzado con el SD, particularmente en las áreas cognitivas y lingüísticas.

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AAMR (1997). Retraso mental. Definición, clasificación y sistemas de apoyo. Madrid, Alianza Editorial (Psicología).

American Academy of Pediatrics Committee on Genetics (AAPCG actualizado, Sept. 2007). Health Supervision for Children with Down Syndrome. Journal of Pediatrics, 107, 2, 442-449

Álvarez, R., Chima, M., Madrid, V., Gálvez, E., Rivera, M. & Cervantes A. (2003). Síndrome de cri du chat: presentación de dos casos. Revista Médica del Hospital General de México, 66:212-7.

American College of Obstetricians and Gynecologists (ACOG, actualizado, Enero, 2007), Screening for Fetal Chromosomal Abnormalities. ACOG Practice Bulletin, 77.

Benedet, M. J. (1991). Procesos cognitivos en la deficiencia mental. Madrid, Editorial Pirámide (Psicología).

Berger, J. (1990). Interactions between parents and their infants with Down syndrome. En D. Cicchetti & M. Beeghly (Eds), Children with Down syndrome: A developmental perspective (pp. 101-146). New York: Cambridge University Press.

Block, M. E. (1991). Motor development in children with Down syndrome: A review of the literature. Adaptative Physical Activity Quarterly, 8, 179-209.

Brambati, B. & Tului, L. (2005). Chorionic villus sampling and amniocentesis. Current Opinions in Obstetrisc and Gynecology, 17, 197-201.

Breg, W. R., Steele, M. W., Miller, O. J., Warburtonb, D., Capoa, A. & Allerdice, P. W. (1970). The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome N° 5 (5p-). Journal of Pediatrics, 77:782-791.

Brown, F. R. III., Greer, M. K., Aylward, E. H. & Hunt, H. H. (1990. Intellectual and adaptive functioning in individuals with Down syndrome in relation to age and environmental placement. Journal of Pediatrics, 85, 450-452.

Cammarata, F., Araque, D., Da Silva, G. Y. & Hernández, J. (2009). Síndrome de cri-du-chat. Reporte de dos casos y revisión de la literatura. Canarias de Pediatría,33 (1): 7-13.

Carlin, M. (1988a). Longitudinal data shows improved prognosis in Cri-du-chat syndrome. American Journal of Human Genetics, 41, A50.

Carlin, M. (1988b), The improved prognosis in Cri-du-cha (5p-) syndrome. En W. Fraser, W. (Ed), Key issues in mental retardation research (pp. 64-73). London: Routledge.

Caselli, M. C. & Casadio, P. (1995). Il primo vocabulario del bambino. Milano, Franco Angeli.

Center for Disease Control and Prevention (CDCP, 2006), Improved national prevalence estimates for 18 selected major birth defects-United Status, 1999-2001. Morbility and Mortality Weekly Report, 54, 1301-1305.

Centers for Disease Control and Prevention (CDCP, 2009). Down Syndrome. Creado 11 de marzo, www.cdc.gov/ncbdd/birthdefects/DownSyndrome.htm.

Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet Journal of Rare Diseases, 1:33.

Cerruti Mainardi, P. Cri-du-chat syndrome. Orphanet encyclopedia. Recuperado en octubre de 2003, en http://www.orpha.net/data/patho/GB/uk-criduchat.pdf

Cerruti Mainardi, P., Perfumo, C., Calì, A., Coucourde G., Pastore, G., Cavani, S., et al. (2001). Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. Journal of Medical Genetics, 38:151-8.

Cerruti Mainardi, P., Guala, A., Pastore, G., Pozzo, G., Dagna Bricarelli, F., & Pierluigi, M. (2000). Psychomotor development in cri du chat syndrome. Clinical Genetics 57:459-461.

Ceruti Mainardi, P.,Medolago, M. & Pedrinazzi(2002). La sindrome del cri-du-chat. Grafide Borri, S. Casciano V. P. (firenza).

Clarke, D. J. & Boer, H. (1998). Problem behaviours associated with deletion Prader-Willi, Smith-Magenis, and Cri du Chat Syndromes. American Journal of Mental Retardation, 103:264-271.

Chang, C. Y., Lin, S. P., Lin, H. Y., Chen, Y. J, Kao, H. A., Yeung, C.Y., et al. (2007). Cri du chat syndrome. Acta Paediatrica Taiwanica, 48:328-31.

Chomsky, N. (1981). Lectures on government and binding. Dordrecht:Foris.

Choong, Y. F., Watts, P., Little, E. & Beck, L. (2003). Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? J AAPOS, 7:226-227.

Collins, M. S.& Eaton-Evans, J. (2001). Growth study of cri-du-chat syndrome. Archives of Diseases in Child, 85, 337-338.

Cornish, K. M. & Pigram, J. (1996). Developmental and behavioural characteristics of cri-du-chat syndrome. Archives of Diseases in Child, 75, 448-440.

Cornish, K. M. & Munir, F. (1998). Receptive and expressive speech skills in children with cri-du-chat syndrome. Journal Communication Disorders, 31:73-80.

Cornish, K. M., Bramble, D., Munir, F. & Pigram, J. (1999). Cognitive functioning in children with typical cri du chat (5p-) syndrome. Developmental Medicine and Child Neurology 41(4):263-6.

Devlin, L. & Morrison, P. J. (2004). Mosaic Down´s syndrome prevalence in a complete population study. Archives of Disease of Childhood, 14, 1177-3749.

Duarte, A.C., Cunha, E, Roth, J. M, Ferreira, F. L, Garcias, G. L.& Martino-Roth, M. G. (2004). Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genetics and Molecular Research, 3:303-308.

Dykens, E. M. & Clarke, D. J. (1997). Correlates of maladaptive behaviour in individuals with 5p- (cri du chat) syndrome. Develomental Medicine and Child Neurology, 39:752-756.

Echeverría, A. (2000). Síndrome de “maullido de gato”, guía para padres y educadores. Santander: Consejería de Sanidad, Gobierno de Catabria.

Fang, J. S., Lee, K. F., Huang, C. T., Syu, C. L., Yang, K. J., Wang, L. H., et al. (2008). Cytogenetic and molecular characterization of three-generation family with chromosome 5p terminal deletion. Clinical Genetics, 73:585-590.

Fayasse, M.; Comblain, A., & Rondal, J. A. (1994). Aspectos morfosintácticos avanzados del lenguaje de niños y adolescentes con retraso mental leve y moderado. Revista de Logopedia, Foniatría y Audiología, 14, 207-218.

Fowler, A. (1988). Determinants of rate of language growth in children with Down syndrome. En L Nadel (Ed.), The psychobiology of Down syndrome (pp. 217-245). Cambridge, MA: MIT Press.

Harris, S. R. (1984). Down syndrome. En S. K. Campbell (Ed.) Paedriatric neurologic physical therapy (pp. 169-204). Edinburgh. Churchill Livingston.

Kasari, C., Mundy, P., Yirmiya, N & Sigman, M. (1990). Affect and attention in children with Down syndrome. American Journal of Mental Retadation, 95, 55-67.

Kumin, L. (1996). Speech and language skills in children with Down syndrome. Mental Retardation and Developmental Disabilities, 2, 109-115.

Lamb, N. E. & Hassold, T. J. (2004). Nondisjuntion: A review from ringside. New England Journal of Medicine, 351, 1931-1934.

Lejeune, J., Lafourcade, J., Berger, R., Vialatte, J., Boeswillwald, M., Seringe, P., et.al. (1963). Trois cas de deletion partielle du bras court d‘ un chromosome 5. Comptes Rendus Hebdomadaires des Séances de l´Académie Sciences, 257: 3098-102.

Leverenz, J. B. & Raskind, M. A. (1998). Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: A regional quantitative analysis. Experimental Neurology, 150, 296-304.

Lynch, M. P., Oller, D. K., Steffens, M. L. & Levine, S. L. (1995), Onset of speech-like vocalization in infants with Down syndrome. American Journal on Mental Retardation, 100, 68-86.

Marinescu, R.C., Cerruti Mainardi, P., Collins, M. R., Kouahou, M., Coucourde, G., Pastore, G., Eaton-Evans, J. & Overhauser, J. (2000). Growth charts for cri-du-chat syndrome: an international collaborative study. American Journal of Medical Genetcs, 94:153-162.

Mann, D. M. & Esiri, M. M. (1989). The pattern acquisition of plaques and tangles in the brains of patients under 50 years of age with Dow´s syndrome. Journal of Neurological Science, 89, 169-179.

Morris, J. K., Mutton, D. E. & Alberman, E. (2005). Recurrences of free trisomy 21: Analysis of data from the National Down Syndrome Cytogenetic Register. Prenatal Diagnosis , 25, 1120-1128.

National Down Syndrome Society (NDSS). Information Topics. Recuperado en abril de 2009, de www.ndss.org.

National Institute of Child Health and Human Development (NICHD) Facts About Down Syndrome. Recuperado en agosto de 2008, de. http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm.

Niebuhr, E. (1978). The cri du chat syndrome. Epidemiology, cytogenetics and clinical features. Human Genetics, 44:227-275.

Niebuhr, E. (1979). Antropometry in the Cri du Chat syndrome. Clinical Genetics, 16:82-95.

Patterson, D & Lott, I. (2008). Etiology, diagnosis and development in Down Síndrome. En J. E Roberts, R. S. Chapman & S. F. Warren (Eds), Speech, Language and Intervention in Down Syndrome and Fragile X Syndrome. Baltimore, Paul H. Brookes Publishing Co.

Pinette, M. G., Wax, J., Blackstone, J., Cartin, A. & McCran n, D. (2004). Timing of early amniocentesis and a function of membrane fusion. Journal of clinical Ultrasound, 43, 8-11 .

Rast, M. & Meltzoff, A. N. (1995). Memory and representation in young children with Down syndrome: Exploring deferred imitation and object permanence. Development and Psychopathology, 7, 393-407.

Rizzi, M. (1997). Valutazione immunologica in pazienti affetti dalla sindrome del cri du chat 5p-. In Tesi di Laurea. Facoltà di Medicina e Chirurgia, Università degli Studi di Milano, Anno Accademico.

Robert, J. E., Chapman R. S. & Warren, S. F. (2008).Speech, language and development intervention in Down syndrome and Fragile X syndrome. Baltimore, Paul H. Brookes Publishing.

Robert, J. E. & Medley, L (1995). Otitis media and speech-language sequelae in young children: Current issues in management. American Journal of Speech-Language Pathology, 4, 15-24.

Rogers, P. T. (1994). Coleman M. Atención médica en el Síndrome de Down: Un planteamiento de medicina preventiva. Barcelona, Fundació Catalana Síndrome de Down.

Rondal, J.A. (1988a). Down’s syndrome. En D. Bishop y K. Mogford (Eds), Language development in exceptional circumstances (pp.165-176). London: Churchill Livingston.

Rondal, J.A. (1988b). Language development in Down’s syndrome: a lifespan perspective. International Journal of Behavioural Development, 11, 21-36.

Rondal, J.A. (1994). Exceptional cases of language development in mental retardation. The relative autonomy of language as a cognitive system. En H. Tager-Flusberg (Ed.), Constraints on language acquisition: studies of atypical children. Hillsdale, NJ: Erlbaum.

Rondal, J., Perera, J., Nadel, L. (2000). Síndrome de Down: Revisión de los últimos conocimientos. Madrid, Espasa.

Roizen, N. J. & Patterson, D. (2003). Down´s syndrome. Lancet, 361, 1281-1289.

Shapiro, B. L. (1983). Down syndrome: A disruption of homeostasis. American Journal of Medical Genetics, 14, 241-269.

Simoni, G., Brambati, B., Danesino, C., Rossella, F., Terzoli, G. L., Ferrari, M. et al. (1983), Efficient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Human Genetics, 63, 349-357.

Steele, M. W. & Bregg, W. R. (1966), Chromosome analysis of human amniotic fluid cells. Lancet, 1, 183-385.

Stathopulu, E., Mackie Ogilvie, C. & Flinter, F. A. (2003), Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. American Journal of Medical Genetisc, 119:363-6.

Strome, S. E. & Strome, M. (1992), Down syndrome: An otolaryngologic perspective. Journal of Otolaryngology, 21, 394-397.

Tsao, C. Y., Wenger, G. & Bartholomew, D. W. (2005), Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia and heterotopia. American Journal of Medical Genetiscs, 134A:198-201.

Tyrrell, J. Cosgrave, M., McCarron, M., McPherson, J.Calvert, J., Kelly, A. et al. (2001). Dementia in people with Down´s syndrome. International Journal of Geriatric Psychiatry, 16, 1168-1174.

Warburton , D., Dallaire, L., Thangavelu, M., Ross, L. Levin, B. & Kline, J. (2004). Trisomy recurrence: A reconsideration base on North America data. American Journal of Human Genetics, 131, 3-7.

Wilkins, L., Brown, J., Nance, W. & Wolf, B. (1982). Clinical heterogeneity in 86 home-reared children with the Cri-du-chat syndrome. Journal of Pediatrics, 102, 528-533.

Wilkins, L., Brown, J. & Wolf, B. (1980). Psychomotor development in 65 home-reared children with Cri-du-chat syndrome. Journal of Pediatrics, 97, 401-405.

Wishart, J. G. & Johnston, F. H. (1990). The effects of experience on attribution of a stereotyped personality to children wit Down´s syndrome. Journal of Mental Deficiency Research, 34, 409-420.

Wisniewski, K. E., Wisniewski, H. M.& Wen, G. Y. (1985). Occurrence of neuropathological changes and dementia of Alzheimer´s disease in Down´s syndrome. Annals of Neurology, 17, 278-282.

Wright, I., Lewis, V. & Collis, G. M. (2006). Imitation and representational development in young children with Down syndrome. British Journal of Developmental Psychology, 24, 429-450.