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Development of a Child with Joubert Syndrome

Published online by Cambridge University Press:  10 April 2014

M. Carmen Torres ,
M. José Buceta  and
M. Consuelo Cajide
M. Carmen Torres*
Affiliation:
University of Santiago de Compostela
M. José Buceta
Affiliation:
University of Santiago de Compostela
M. Consuelo Cajide
Affiliation:
University of Santiago de Compostela
*
Correspondence concerning this article should be addressed to: Mª Carmen TorresUniversidad de Santiago. Departamento de Psicología Evolutiva y de la Educación. 15706 Santiago de Compostela (Spain). Fax: 981-521581. E.mail: ctorres@usc.es
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Abstract

The article describes the development of a child with Joubert Syndrome who, since the age of 16 months, has received personalized stimulation therapy at home and in the Early Intervention Unit (EIU) of the Faculty, in each of the five areas considered by the Portage Guide to Early Education: socialization, language, self-help, cognition, and motoricity. Repeated evaluations during the treatment (up to age 40 months) showed slow progress in all developmental areas, as well as in general attitude to and capacity for learning. During treatment, greatest progress was made in the areas of cognition and communication.

Este artículo describe el desarrollo de un niño con síndrome de Joubert, atendido en la Unidad de Atención Temprana de una Facultad de Psicología. El sujeto se incorporó a la edad de 16 meses a un programa individualizado de estimulación temprana en cada una de las cinco áreas consideradas por la Guía Portage de Atención Temprana: socialización, lenguaje, auto-ayuda, cognición y motricidad. El programa se puso en práctica tanto en la unidad como en el hogar. Las evaluaciones realizadas a lo largo del período de tratamiento (hasta la edad de 40 meses) mostraron una evolución positiva, aunque muy lenta, en todas las áreas de desarrollo, en la actitud general y en la capacidad de aprendizaje. Durante el tratamiento, los mayores progresos se realizaron en el área cognitiva y en el área de comunicación.

Keywords

Joubert syndromevermis agenesiaearly interventionsíndrome de Joubertagenesia de vermisatención temprana
Type
Articles
Information
The Spanish Journal of Psychology , Volume 4 , Issue 1 , May 2001 , pp. 72 - 78
Copyright
Copyright © Cambridge University Press 2001

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References

Allen, G., Buxton, R., Wong, E., & Courchesne, E. (1997). Attentional activation of the cerebellum independent of motor involvement. Science, 275, 1940–1943.CrossRefGoogle ScholarPubMed
Bluma, S., Shearer, M., Frohman, A., & Hilliard, J. (1972). Portage guide to early education. Portage, WI: Cooperative Educational Service Agency 12.Google Scholar
Bolthauser, E. (1991). CHARGE and Joubert syndromes are different [Letter]. Pediatrics Neurology, 7, 310.CrossRefGoogle Scholar
Brunet, O., & Lézine, I. (1965). Le dévelopement psychologie de la premiére enfance. Paris: Presses Universitaries de France. (Spanish translation: Pereda, S. Escala de Desarrollo Psicomotor de la Primera Infancia O. Brunet-I. Lézine. Madrid: Symtec, 1997).Google Scholar
Buceta, M.J., & Torres, M.C. (1995). Programas de intervención temprana: implicaciones educativas. Revista Galega de Psicopedagoxía, 12, 259–272.Google Scholar
Courchesne, E., Yeung-Courchesne, R., & Press, G. (1988). Hypoplasia of cerebellar vermal lobules VI and VII in autism. New England Journal of Medicine, 318, 1349–1354.CrossRefGoogle ScholarPubMed
Deonna, T., & Ziegler, A. (1993). Cognitive development and behavior in Joubert syndrome [Letter]. Biological Psychiatry, 33, 854–855.CrossRefGoogle ScholarPubMed
Fennell, E., Gitten, J., Dede, D., & Maria, B. (1999). Cognition, behavior, and development in Joubert syndrome. Journal of Child Neurology, 14, 592–596.CrossRefGoogle ScholarPubMed
Gitten, J., Dede, D., & Fennell, E. (1998). Neurobehavioral development in Joubert syndrome. Journal of Child Neurology, 13, 391–397.CrossRefGoogle ScholarPubMed
Holroyd, S., Reiss, A., & Bryan, N., (1991). Autistic features in Joubert syndrome: A genetic disorder with agenesis of the cerebral vermis. Biological Psychiatry, 29, 287–294.CrossRefGoogle ScholarPubMed
Houdon, S., Ohno, K., Takashimas, S., & Takeshita, K. (1986). Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis. Pediatrics Neurology, 2, 102–105.CrossRefGoogle Scholar
Joubert, M., Eisenring, J., Preston, R., & Andermann, F. (1969). Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 19, 813–815.CrossRefGoogle ScholarPubMed
Leuscher, J., Dede, D., Gitten, J., Fennell, E., & Maria, B. (1999). Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome. Journal of Child Neurology, 14, 642–648.CrossRefGoogle Scholar
Maria, B., Bolthauser, E., Palmer, S., & Tran, T. (1999). Clinical features and revised diagnostic criteria in Joubert syndrome. Journal of Child Neurology, 14, 583–590.CrossRefGoogle ScholarPubMed
Maria, B., Hoang, K., & Tusa, R. (1997). ‘Joubert syndrome’ revisited: Key ocular motor signs with magnetic resonance imaging correlation. Journal of Child Neurology, 12, 423–430.CrossRefGoogle ScholarPubMed
Newborg, J., Stock, J., Wnek, L., Guidubaldi, J., & Svinicki, J. (1984). The Battelle Developmental Inventory. Allen, MA: DLM Teaching Resources.(Spanish translation: De la Cruz, M., & González, M. Inventario de Desarrollo Battelle. Madrid: TEA, 1996).Google Scholar
O'Brien, G., & Yule, W. (1995). Behavioural phenotypes. London: Mac Keith Press.Google Scholar
Ozonoff, S., Williams, B., Gale, S., & Miller, J. (1999). Autism and autistic behavior in Joubert syndrome. Journal of Child Neurology, 14, 636–641.CrossRefGoogle ScholarPubMed
Pellegrino, J., Lenssch, W., Muenke, M., & Chance, P. (1997). Clinical and molecular analysis in Joubert syndrome. American Journal of Medical Genetics, 72, 59–62.3.0.CO;2-T>CrossRefGoogle ScholarPubMed
Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., & Bayoumi, R. (1999). Homozigosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. American Journal of Human Genetics, 65, 1666–1671.CrossRefGoogle Scholar
Saraiva, J.M., & Baraitser, M. (1992). Joubert syndrome: A review. American Journal of Medical Genetics, 43, 726–731.CrossRefGoogle ScholarPubMed
Shoumitro, D. (1998). Self-injurious behaviour as a part of genetic syndromes. British Journal of Psychiatry, 172, 385–388.Google Scholar
Steinlin, M. (1998). Non-progressive congenital ataxias. Brain & Development, 20, 199–208.CrossRefGoogle ScholarPubMed
Steinlin, M., Schmid, M.Landau, K., & Boltshauser, E. (1997). Follow-up in children with Joubert syndrome. Neuropediatrics, 28, 204–205.CrossRefGoogle ScholarPubMed
Torres, M.C., & Buceta, M.J. (1996). Estimulación precoz y desarrollo cognoscitivo en un grupo de sujetos con síndrome de Down. Psicología Contemporánea, 3, 72–78Google Scholar
Torres, M.C., & Buceta, M.J. (1997). Intervención oportuna en niños con síndrome de Down de 0-2 años: importancia de la participación de los padres. Revista de Psicología General y Aplicada, 50, 371–388.Google Scholar
Torres, M.C., & Buceta, M.J. (1998). Effect of parental intervention on motor development of Down syndrome infants between birth and age two years. The British Journal of Developmental Disabilities, 44, 94–101.Google Scholar
Torres, M.C., Buceta, M.J., & Lorenzo, J. (2000). The development of a child with Potter's sequence due to unilateral renal agenesis. The British Journal of Developmental Disabilities, 46, 63–71.CrossRefGoogle Scholar