沃尔夫-赫希霍恩综合征的沟通和语言技能:弱化表型的案例研究。一个案例研究

IF 0.4 Q4 LINGUISTICS
Verónica Martínez López, Domingo González Lamuño Leguina, S. Hernández, Sara Ceballos Cayón, D. O. Quijano
{"title":"沃尔夫-赫希霍恩综合征的沟通和语言技能:弱化表型的案例研究。一个案例研究","authors":"Verónica Martínez López, Domingo González Lamuño Leguina, S. Hernández, Sara Ceballos Cayón, D. O. Quijano","doi":"10.5209/rlog.64632","DOIUrl":null,"url":null,"abstract":"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","PeriodicalId":41342,"journal":{"name":"Revista de Investigacion en Logopedia","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso\",\"authors\":\"Verónica Martínez López, Domingo González Lamuño Leguina, S. Hernández, Sara Ceballos Cayón, D. O. Quijano\",\"doi\":\"10.5209/rlog.64632\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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\",\"PeriodicalId\":41342,\"journal\":{\"name\":\"Revista de Investigacion en Logopedia\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2020-01-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista de Investigacion en Logopedia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5209/rlog.64632\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"LINGUISTICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista de Investigacion en Logopedia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5209/rlog.64632","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"LINGUISTICS","Score":null,"Total":0}
引用次数: 0

摘要

西班牙沃尔夫-赫希霍恩综合征(SWH)是一种由4号染色体短臂缺失(4p16.3)引起的神经进化遗传综合征。他们表现出不同的表型,包括产前和产后发育迟缓、癫痫、精神运动迟缓、张力减退、颅面异常(“希腊头盔”面和咬合缺陷)、智力残疾以及表达和理解语言的使用受限。本研究的目的是描述SWH表型减弱的女孩在语音、形态和词汇发展水平上的沟通和语言技能。一名8.08岁的西班牙女孩经CGHarray诊断为SWF,除喉部非常不成熟外,无明显的口面结构异常。您的语言技能将在45分钟的互动环境中进行评估,并由家长进行标准化测试和注册。本文从语音过程的角度分析了产生错误的频率和性质。在本研究中,我们分析了三种不同类型的儿童的语言接受能力。在互动的情况下,产生少于50个单词。他还没有掌握所有的西班牙语语音。语言过程的频率非常高,这是处于语言发展早期阶段的儿童的特点。参与者表现出2-3岁儿童典型发育的语音、形态和词汇技能。在语言迟钝和3、6岁以下唐氏综合症儿童中观察到其语言特征。沃尔夫-赫希霍恩综合征(SWH)是一种神经发育遗传综合征,由4号染色体短臂缺失引起(4p16.3)。他们表现出不同的表型,包括出生前和出生后生长延迟、癫痫、精神运动延迟、减压、颅面异常(“希腊头盔面”和闭上缺陷)、智力残疾和在使用表达和综合语言方面的困难。The aim of this study is to描述The communicative and linguistic体能of a girl with an attenuated phenotype of SWH、both at The level of phonological morphological and lexical development。一名西班牙女孩8岁;08岁,由SWF使用CGHarray诊断,除喉部非常不成熟外,无明显的口面结构异常。她的语言能力在互动环境中进行了45分钟的评估,由家长进行标准化测试和注册。The frequency and nature of production规定in terms of are analyzed phonological流程。结果表明,她的语言接受能力相当于3岁;08岁的孩子。在互动的情况下,产生的单词少于50个。她还没有获得所有的西班牙语音剧目。《phonological进程非常is high frequency and typical of children who are in The first时刻部落格of The口头phonological发展阶段。她表现出典型发育的2-3岁儿童的典型音位、形态和词汇语言能力。她的语言特征在语言发育缓慢和3岁以下儿童唐氏综合症中被观察到。确定SWH的语言特征对语言治疗干预至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso
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
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
0.80
自引率
33.30%
发文量
34
审稿时长
12 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信