Rehabilitación neuropsicológica en personas con síndrome de Prader-Willi


El síndrome de Prader-Willi (SPW) es un trastorno complejo del neurodesarrollo causado por anomalías genéticas y que presenta un fenotipo neuroconductual característico. El objetivo de este trabajo fue analizar las intervenciones de rehabilitación neuropsicológica en SPW, por lo que se realizó una búsqueda sistemática, incluyéndose un total de 14 artículos con intervenciones en características fenotípicas conductuales, cognitivas o familiares. Los estudios fueron analizados según el enfoque de la intervención, modelos, procedimientos específicos y resultados. La mayor parte de los estudios utilizaron un modelo de compensación y casi todos aplicaron técnicas de modificación conductual. Los resultados sugieren que las técnicas que utilizan un reforzamiento diferencial, que incluyen una mayor participación de la persona con SPW y sus familiares en el proceso de intervención, son más exitosas.
  • Referencias
  • Cómo citar
  • Del mismo autor
  • Métricas
Bellon-Harn, M. (2005). Clinical management of a child with Prader-Willi Syndrome frommaternal uniparental disomy (UPD) genetic inheritance. Journal of Communication Disorders,38, 459-472. doi:10.1016/j.jcomdis.2005.04.001.

Butler, M., Lee, P. y Whitman, B. (Eds.) (2006). Management of Prader-Willi Syndrome.New York: Springer.

Copet, P., Jauregi, J., Laurier, V., Ehlinger, V., Arnaud, C., Cobo, A., Molinas, C., Tauber, M. y Thuilleaux, D. (2010). Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes. Journal of Intellectual Disability Research, 54 (3), 204-215. doi:10.1111/j.1365-2788.2010.01251.x.

Dimitropoulos, A., Ferranti, A. y Lemler, M. (2013). Expressive and receptive language in Prader-Willi syndrome: Report on genetic subtype differences. Journal of Communication Disorders, 46 (2), 193-201. doi:10.1016/j.jcomdis.2012.12.001.

Dimitropoulos, A., Ho, A. y Feldman, B. (2013). Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder. Journal of Autism y Developmental Disorders, 43 (1), 103-113. doi:10.1007/s10803-012-1547-3.

Dimitropoulos, A. y Schultz, R. T. (2007). Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings. Current Psychiatry Reports, 9 (2), 159-164.

Dolyniuk, C., Kamens, M., Corman, H., DiNardo, P., Totaro, R. y Rockoff, J. (2002). Students with developmental disabilities go to college: Description of a collaborative transition project on a regular college campus. Focus on Autism and Other Developmental Disabilities, 17 (4).

Eack, S. M., Bahorik, A. L., Hogarty, S. S., Greenwald, D. P., Litschge, M. Y., Mazefsky, C. A. y Minshew, N. J. (2013). Is Cognitive Rehabilitation Needed in Verbal Adults with Autism? Insights From Initial Enrollment in a Trial of Cognitive Enhancement Therapy. Journal of Autism and Developmental Disorders, 43 (9), 2233-2237.

Farr an, E. y Karm iloff -Smith , A. (Eds.) (2011). Neurodevelopmental Disorders Across the Lifespan: A neuroconstructivist approach. Oxford: Oxford University Press. Extraído desde:

Flint, J. y Yule, W. (1994). Behavioural phenotypes. En M. R. Rutt er, E. Taylor y L. Hersov(Eds.), Child and Adolescent Psychiatry (pp. 666-687). Oxford: Blackwell Scientific.

Gardner, J. y Wolfe, P. (2015). Teaching students with developmental disabilities daily living skills using point-of-view modeling plus video prompting with error correction. Focus on Autism and Other Developmental Disabilities, 30 (4), 195-207. doi:10.1177/1088357614547810.

Goldstone, A. P., Holland, A. J., Hauffa, B. P., Hokken-Koelega, A. C., Tauber, M. y Speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS (2008). Recommendations for the diagnosis and management of Prader-Willi syndrome. The Journal of Clinical Endocrinology and Metabolism, 93 (11), 4183-4197. doi:10.1210/jc.2008-0649.

Grolla, E., Andrighetto, G., Parmigiani, P., Hladnik, U., Ferrari, G., Bernardelle, R.,Lago, M. D., Albarello, A., Baschirotto, G., Filippi, G., Lovato, R. y Dolcetta, D.(2011). Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes. Disability and Rehabilitation, 33 (19-20), 1837-1847. doi:10.3109/09638288.2010.549288.

Gunay-Aygun, M., Schwartz, S., Heeger, S., O’Riordan, M. A. y Cassidy, S. B. (2001). The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria. Pediatrics, 108 (5), e92-e92. doi:10.1542/peds.108.5.e92.

Jauregi, J., Arias, C., Vegas, O., Alén, F., Martínez, S., Copet, P. y Thuilleaux, D. (2007). A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome.Journal of Intellectual Disability Research, 51 (5), 350-365. doi:10.1111/j.1365-2788.2006.00883.x.

Liberati, A., Altman, D., Tezzlaff, J., Mulrow, C., Gøtzsche, P., Ioannidis, J., Clarke, M., Devereaux, P. J., Kleijnen, J. y Moher, D. (2009). The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions:explanation and elaboration. BMJ, 339:b2700. doi:

Lo, S. T., Siemensma, E., Collin, P. y Hokken-Koelega, A. (2013). Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. Research in Developmental Disabilities, 34 (9), 2764-2773. doi:10.1016/j.ridd.2013.05.024.

Lubrini, G., Periáñez, J. y Ríos-Lago, M. (2009). Introducción a la estimulación cognitiva y la rehabilitación neuropsicológica. En E. Muñoz-Marrón (Ed.), Estimulación cognitiva y rehabilitación neuropsicológica (pp. 13-32). Barcelona: Editorial UOC.

Maglieri, K. A., DeLeon, I. G., Rodriguez-Catter, V. y Sevin, B. M. (2000). Treatment of covert food stealing in an individual with Prader-Willi syndrome. Journal of Applied Behavior Analysis, 33 (4), 615-618. doi:10.1901/jaba.2000.33-615.

Mazaheri, M. M., Rae-Seebach, R. D., Preston, H. E., Schmidt, M., Kountz-Edwards, S.,Field, N., Cassidy, S. y Packman, W. (2013). The impact of Prader-Willi syndrome on the family’s quality of life and caregiving, and the unaffected siblings’ psychosocial adjustment. Journal of Intellectual Disability Research, 57 (9), 861-873. doi:10.1111/j.1365-2788.2012.01634.x.

McAllister, C. J., Whittington, J. E. y Holland, A. J. (2011). Development of the eating behavior in Prader-Willi Syndrome: advances in our understanding. International Journal of Obesity, 35 (2), 188-197. doi:10.1038/ijo.2010.139.

McCandless, S. E. y Comm itt ee on Genetics (2011). Clinical report-health supervision for children with Prader-Willi syndrome. Pediatrics, 127 (1), 195-204. doi:10.1542/peds.2010-2820.

Messersmith, N. V., Slifer, K. J., Pulbrook-Vetter, V. y Bellipanni, K. (2008). Interdisciplinary Behavioral Intervention for Life-Threatening Obesity in an Adolescent with Prader-Willi Syndrome: A Case Report. Journal of Developmental y Behavioral Pediatrics, 29 (2),129-134. doi:10.1097/DBP.0b013e31815f24bd7.

Misquiatti, A. R., Cristovão, M. P. y Brito, M. C. (2011). Trajectory and outcomes of speechlanguage therapy in the Prader-Willi syndrome (PWS): case report. J Soc Bras Fonoaudiol,23 (1), 77-81.

Muñoz-Marrón, E. (Ed.) (2009). Estimulación cognitiva y rehabilitación neuropsicológica. Barcelona: Editorial UOC.Noggle, C., Dean, R. y Barisa, M. (Eds.) (2013). Neuropsychological Rehabilitation. New York, Estados Unidos: Springer Publishing Company.

Pignatti, R., Mori, I., Bertella, L., Grugni, G., Giardino, D. y Molinari, E. (2013). Exploring patterns of unwanted behaviours in adults with Prader-Willi syndrome. J Appl Res Intellect Disabil, 26 (6), 568-577. doi: 10.1111/jar.12047.

Radstaake, M., Didden, R., Bolio, M., Lang, R., Lancioni, G. E. y Curfs, L. M. G. (2011). Functional Assessment and Behavioral Treatment of Skin Picking in a Teenage Girl With Prader-Willi Syndrome. Clinical Case Studies, 10 (1), 67-78. doi:10.1177/1534650110395013.

Rose, J. y Walker, S. (2000). Working with a man who has Prader-Willi syndrome and his support staff using motivational principles. Behavioral and Cognitive Psychotherapy, 28 (3), 293-302.

Samuels, R. y Stansfield, J. (2011). The effectiveness of social stories™ to develop social interactions with adults with characteristics of autism spectrum disorder. British Journal of Learning Disabilities, 40, 272-285. doi:10.1111/j.1468-3156.2011.00706.x.

Singh, N. N., Lancioni, G. E., Singh, A. N., Winton, A. S. W., Singh, J., McAleavey, K. M. y Adkins, A. D. (2008). A Mindfulness-Based Health Wellness Program for an Adolescent with Prader-Willi Syndrome. Behavior Modification, 32 (2), 167-181.doi:10.1177/0145445507308582.

Singh, N. N., Lancioni, G. E., Singh, A. N. A., Winton, A. S. W., Singh, A. D. A. y Singh,J. (2011). A Mindfulness-Based Health Wellness Program for Individuals with Prader-Willi
Syndrome. Journal of Mental Health Research in Intellectual Disabilities, 4 (2), 90-106.doi:10.1177/0145445507308582.

Stokes, J. V. y Luiselli, J. K. (2009). Applied Behavior Analysis Assessment and Intervention for Health: Threatening Self-Injury (Rectal Picking) in an Adult with Prader-Willi Syndrome. Clinical Case Studies, 8 (1), 38-47. doi:10.1177/1534650108327011.

Storch, E. A., Rahman, O., Morgan, J., Brauer, L., Miller, J. y Murphy, T. K. (2011). Case Series of Behavioral Psychotherapy for Obsessive-Compulsive Symptoms in Youth withPrader-Willi Syndrome. Journal of Developmental and Physical Disabilities, 23 (4), 359-368. doi:10.1007/s10882-011-9233-5.

Van Hooren, R. H., Widdershoven, G. A. M., Candel, M. J. J. M., Van den Borne, B. W. y Curfs, L. M. G. (2006). Between control and freedom in the care for persons with Prader-Willi syndrome: an analysis of preferred interventions by caregivers. Patient Education and Counseling, 63 (1-2), 223-231. doi:10.1016/j.pec.2005.11.004.

Whittington, J. (2004). Prader-Willi Syndrome: Development and Manifestations. Cambridge: Cambridge University Press.

Wigren, M. y Hansen, S. (2003). Prader-Willi syndrome: clinical picture, psychosocial supportand current management. Child: Care, Health y Development, 29 (6), 449-456. doi:10.1046/j.1365-2214.2003.00364.x.

Wilson, B., Gracey, F., Evans, J. y Bateman, A. (2009). Neuropsychological Rehabilitation Theory, Models, Therapy and Outcome. Cambridge: Cambridge University Press.
Tapia De Moya, K. (2017). Rehabilitación neuropsicológica en personas con síndrome de Prader-Willi. Siglo Cero, 48(1), 73–93.


Los datos de descargas todavía no están disponibles.

Biografía del autor/a

Karol Tapia De Moya

Universidad Autónoma de Madrid
Universidad Autónoma de Madrid. Oficina de acción solidaria y Cooperación. C/Einstein, 7. Campus de Cantoblanco. Edificio Plaza Mayor. Madrid