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espanolEl sindrome de Wolf-Hirschhorn (SWH) es un sindrome genetico neuroevolutivo causado por una delecion del brazo corto del cromosoma 4 (4p16.3). Presentan un fenotipo variable con retraso del crecimiento pre y postnatal, epilepsia, retraso psicomotor, hipotonia, anomalias craneofaciales (facies en “casco griego” y defectos oclusivos), discapacidad intelectual y limitaciones en el uso del lenguaje tanto expresivo como comprensivo. El objetivo de este estudio es describir las habilidades comunicativas y linguisticas de una nina con fenotipo atenuado de SWH a nivel de desarrollo fonologico, morfologico y lexico. Una nina espanola de 8;08 anos diagnostica de SWF mediante CGHarray, sin anomalias estructurales orofaciales significativas, salvo laringe muy inmadura. Sus habilidades linguisticas se evaluan en situacion de interaccion durante 45 minutos, con pruebas estandarizadas y registro realizado por los padres. Se analiza la frecuencia y la naturaleza de los errores de produccion en terminos de procesos fonologicos. Los resultados muestran que sus habilidades linguisticas receptivas equivalen a las de ninos de 3;08 anos. En situacion de interaccion produce menos de 50 palabras. No tiene adquirido todo el repertorio fonetico espanol. La frecuencia de los procesos fonologicos es muy alta y caracteristica de ninos que se encuentran en los primeros momentos de la etapa verbal del desarrollo fonologico. La participante presenta habilidades fonologicas, morfologicas y lexicas propias de ninos de 2-3 anos con desarrollo tipico. Su perfil linguistico se ha observado en el retraso del lenguaje y en ninos menores de 3;6 anos con sindrome de Down. Determinar las caracteristicas linguisticas del SWH resulta imprescindible para la intervencion logopedica EnglishThe Wolf-Hirschhorn syndrome (SWH) is a neurodevelopmental genetic syndrome caused by a deletion of the short arm of chromosome 4 (4p16.3). They present a variable phenotype with pre and postnatal growth delayed, epilepsy, psychomotor delayed, hypotonia, craniofacial anomalies (facies in “Greek helmet” and occlusive defects), intellectual disability and difficulties in the use of both expressive and comprehensive language. The aim of this study is to describe the communicative and linguistic abilities of a girl with an attenuated phenotype of SWH, both at the level of phonological, morphological and lexical development. A Spanish girl aged 8;08 years diagnosed by SWF using CGHarray, without significant structural orofacial anomalies, except very immature larynx participates in this study. Her linguistic abilities are evaluated in interaction situation for 45 minutes, with standardized tests and registration made by the parents. The frequency and nature of production errors in terms of phonological processes are analyzed. The results show that her receptive language skills are equivalent to those of children of 3;08 years old. In situation of interaction produces less than 50 words. She has not acquired all the Spanish phonetic repertoire. The frequency of phonological processes is very high and typical of children who are in the first moments of the verbal stage of phonological development. She presents phonological, morphological and lexical linguistic abilities typical of 2-3-year-old children with typical development. Her linguistic profile has been observed in language delay and in children under 3;6 years with Down syndrome. Determining the linguistic characteristics of SWH is essential for speech therapy intervention

Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso