Síndrome Williams: Una enfermedad rara con sintomatología contradictoria

Aníbal Puente Ferreras, María Paz Fernández Lozano, Jesús María Alvarado Izquierdo, Virginia Jiménez Rodríguez

Resultado de la investigación: Article

Resumen

Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99% of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.

Idioma originalSpanish
Páginas (desde-hasta)217-228
Número de páginas12
PublicaciónRevista Latinoamericana de Psicologia
Volumen43
N.º2
EstadoPublished - 2011

Huella dactilar

Williams Syndrome
Rare Diseases
Disease
Cognition Disorders
sleep
Hyperacusis
Chronology
cognition
Neurobehavioral Manifestations
Inborn Genetic Diseases
Chromosomes, Human, Pair 7
incidence
Live Birth
Linguistics
linguistics
Sleep
Central Nervous System
Incidence

ASJC Scopus subject areas

  • Psychology(all)
  • Social Sciences (miscellaneous)

Citar esto

Ferreras, A. P., Lozano, M. P. F., Izquierdo, J. M. A., & Rodríguez, V. J. (2011). Síndrome Williams: Una enfermedad rara con sintomatología contradictoria. Revista Latinoamericana de Psicologia, 43(2), 217-228.
Ferreras, Aníbal Puente ; Lozano, María Paz Fernández ; Izquierdo, Jesús María Alvarado ; Rodríguez, Virginia Jiménez. / Síndrome Williams : Una enfermedad rara con sintomatología contradictoria. En: Revista Latinoamericana de Psicologia. 2011 ; Vol. 43, N.º 2. pp. 217-228.
@article{73a4dc0a53c043ad8c8eb29887170912,
title = "S{\'i}ndrome Williams: Una enfermedad rara con sintomatolog{\'i}a contradictoria",
abstract = "Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99{\%} of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.",
keywords = "Cognitive functioning, Genetic, Linguistic functioning, Rare diseases, Social and emotional disorders",
author = "Ferreras, {An{\'i}bal Puente} and Lozano, {Mar{\'i}a Paz Fern{\'a}ndez} and Izquierdo, {Jes{\'u}s Mar{\'i}a Alvarado} and Rodr{\'i}guez, {Virginia Jim{\'e}nez}",
year = "2011",
language = "Spanish",
volume = "43",
pages = "217--228",
journal = "Revista Latinoamericana de Psicologia",
issn = "0120-0534",
publisher = "Fundacion para el Avance de la Psicologia",
number = "2",

}

Ferreras, AP, Lozano, MPF, Izquierdo, JMA & Rodríguez, VJ 2011, 'Síndrome Williams: Una enfermedad rara con sintomatología contradictoria', Revista Latinoamericana de Psicologia, vol. 43, n.º 2, pp. 217-228.

Síndrome Williams : Una enfermedad rara con sintomatología contradictoria. / Ferreras, Aníbal Puente; Lozano, María Paz Fernández; Izquierdo, Jesús María Alvarado; Rodríguez, Virginia Jiménez.

En: Revista Latinoamericana de Psicologia, Vol. 43, N.º 2, 2011, p. 217-228.

Resultado de la investigación: Article

TY - JOUR

T1 - Síndrome Williams

T2 - Una enfermedad rara con sintomatología contradictoria

AU - Ferreras, Aníbal Puente

AU - Lozano, María Paz Fernández

AU - Izquierdo, Jesús María Alvarado

AU - Rodríguez, Virginia Jiménez

PY - 2011

Y1 - 2011

N2 - Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99% of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.

AB - Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99% of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.

KW - Cognitive functioning

KW - Genetic

KW - Linguistic functioning

KW - Rare diseases

KW - Social and emotional disorders

UR - http://www.scopus.com/inward/record.url?scp=80155204624&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:80155204624

VL - 43

SP - 217

EP - 228

JO - Revista Latinoamericana de Psicologia

JF - Revista Latinoamericana de Psicologia

SN - 0120-0534

IS - 2

ER -