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Variables asociadas a las características de comunicación y lenguaje de las personas con síndrome de Angelman en una muestra de la península Ibérica 伊比利亚半岛样本中与安杰曼综合征患者交流和语言特点相关的变量。
Q3 Nursing Pub Date : 2024-06-20 DOI: 10.1016/j.rlfa.2024.100497
Karla Guerrero-Leiva , Carme Brun-Gasca , Albert Fornieles-Deu , Ariadna Ramírez-Mallafrè

Introduction

Angelman syndrome (AS) is a rare condition with low prevalence associated with severe global developmental delay, behavioral phenotype of happy appearance and social interaction, moderate to severe intellectual disability with minimal or absent oral language associated with molecular etiology and featuring clinical variables.

Objectives

To describe communication and language abilities in a sample of individuals with AS from Spain and Portugal, explore the influence of molecular etiology, age and use of Augmentative and Alternative Communication (AAC).

Materials and methods

The sample comprised 40 individuals diagnosed with AS, from the Iberian Peninsula, assessed using the MacArthur Communicative Development Inventories.

Results

A characteristic profile is shown with a predominance of gestures and receptive language over expressive. Differences are noted by molecular subtype, age, use of AAC and the origin in the Iberian Peninsula.

Conclusions

The linguistic phenotype for Angelman Syndrome is consistent with findings from other studies, however associated variables such as molecular etiology and use of AAC should be considered.

导言:安格尔曼综合征(Angelman Syndrome,AS)是一种罕见的疾病,发病率低,伴有严重的全面发育迟缓、快乐外表和社会交往的行为表型、中度至重度智力障碍,口语极少或缺失,与分子病因学和特征性临床变量有关。目的描述西班牙和葡萄牙 AS 患者的交流和语言能力,探讨分子病因学、年龄和使用辅助和替代性交流(AAC)的影响。结论安杰尔曼综合症的语言表型与其他研究结果一致,但应考虑分子病因学和使用辅助交流设备等相关变量。
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引用次数: 0
Perspectives about home-language maintenance in multilingual families with and without language and communication disorders: A scoping review 有语言和交流障碍和无语言和交流障碍的多语言家庭对家庭语言维护的看法:范围审查
Q3 Nursing Pub Date : 2024-06-20 DOI: 10.1016/j.rlfa.2024.100496
Paula Bellón, Silvia Nieva

Parents of multilingual children often need to make choices about the transmission of languages in the next generations. The aim of this scoping review is to examine recent evidence addressing the language views and practices of multilingual families, to identify key patterns regarding the use of language(s) at home. Four databases were searched systematically in June 2023 including a total of 45 articles. Studies where children had language and/or communication disorders were included. The findings show that parents make their linguistic choices based on their own attitudes and experiences. They also consider professional advice, which does not always align with their views. The evidence reveals similarities between families with and without language and/or communication disorders, despite showing particularities related to the child's condition. Few studies were found where children had disorders, highlighting the need of further research on the matter to provide knowledge that could be useful in clinical settings.

多语儿童的父母往往需要为下一代的语言传承做出选择。本范围综述旨在研究近期有关多语言家庭的语言观点和实践的证据,以确定在家中使用语言的主要模式。2023 年 6 月,我们对四个数据库进行了系统检索,共检索到 45 篇文章。儿童有语言和/或交流障碍的研究也包括在内。研究结果表明,家长是根据自己的态度和经验做出语言选择的。他们也会考虑专业建议,但这些建议并不总是与他们的观点一致。有证据显示,有语言和/或交流障碍的家庭与没有语言和/或交流障碍的家庭之间存在相似之处,尽管这些相似之处与儿童的状况有关。有关儿童患有障碍的研究很少,这突出表明有必要对这一问题进行进一步研究,以提供对临床有用的知识。
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引用次数: 0
Clinical indicators of dysphagia in patients with Parkinson disease 帕金森病患者吞咽困难的临床指标
Q3 Nursing Pub Date : 2024-06-18 DOI: 10.1016/j.rlfa.2024.100493
Adrián Pérez del Olmo , Moisés Betancort , Germán Gálvez-García , Lucía Sabater , Tatiana Romero-Arias

Purpose

It is well known that dysphagia in patients with Parkinson disease (PD) can be very disabling and hurt the quality of life. Thus, tongue function is crucial for swallowing. In this line, it has been proposed that inadequate lingual pressure conditions the swallowing process. We aimed to determine whether lingual pressures in PD patients are lower than in a control group. Also, to test whether objective lingual pressures correlate with questionnaires designed to detect dysphagia.

Method

Thirty-eight patients with PD and thirty-eight age- and gender-matched controls completed lingual pressure tasks with the IOWA oral performance instrument. Additionally, the experimental group completed the DYMUS questionnaire for the early detection of dysphagia and the Dysphapark questionnaire for assessing swallowing disorder awareness.

Result

Patients with PD presented significantly lower scores in lingual pressure tasks compared to the control group. Correlation analysis showed significant correlations between lingual pressure tasks and both questionnaires.

Conclusion

Lingual pressures, DYMUS and Dysphapark questionnaires can serve as clinical indicators for assessing dysphagia and prompt diagnosis and early speech therapy intervention of dysphagia in PD patients.

目的 众所周知,帕金森病(PD)患者的吞咽困难会严重影响患者的生活质量。因此,舌头功能对吞咽至关重要。因此,有人认为舌压不足会影响吞咽过程。我们的目的是确定帕金森病患者的舌压是否低于对照组。方法38 名帕金森氏症患者和 38 名年龄和性别匹配的对照组患者通过 IOWA 口腔表现工具完成舌侧压力任务。此外,实验组还完成了用于早期检测吞咽困难的 DYMUS 问卷和用于评估吞咽障碍意识的 Dysphapark 问卷。结论语言压力、DYMUS 和 Dysphapark 问卷可作为评估吞咽困难的临床指标,及时诊断并早期干预帕金森病患者的吞咽困难。
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引用次数: 0
Instrumento MAIN para evaluar las habilidades narrativas en niños hispanohablantes con trastorno del desarrollo del lenguaje (TDL) MAIN 工具,用于评估患有语言发育障碍 (DLD) 的西班牙语儿童的叙事能力。
Q3 Nursing Pub Date : 2024-06-17 DOI: 10.1016/j.rlfa.2024.100495
María Suárez-Romón, Verónica Martínez López, Paz Suárez-Coalla

Introduction

Developmental language disorder (DLD) involves the impairment of one or more linguistic dimensions. It has been observed that these children present difficulties in oral narratives at the microstructure and macrostructure levels, although there is much disparity in the assessment tools used in research. The aim of this study is to assess the narrative skills of Spanish-speaking children with DLD by analyzing oral narratives in terms of narrative microstructure and macrostructure and phonological and morphological errors.

Method

The sample consisted of 24 children: 12 with DLD and 12 with typical development (TD) aged between 7 and 11 years. They were administered CELF-5, Raven's 2, and Peabody Picture Vocabulary Test to assess the level of linguistic and cognitive competence and the Multilingual Assessment Instrument for Narratives (MAIN), a narrative assessment tool. These oral narratives were transcribed and analyzed with the CHILDES project tools and coded with the PREP-CORP system.

Results

Statistically significant differences were observed between both groups in the number of utterances, mean utterance length and number of events narrated, as well as in the frequency of morphological and phonological errors.

Conclusions

Oral narratives of DLD children using the MAIN tool are shorter and less detailed than those of TD, as well as with a higher number of phonological and morphological errors. Therefore, the MAIN could be a suitable clinical tool for the assessment of the narrative skills of DLD children.

导言发育性语言障碍(DLD)涉及一个或多个语言层面的障碍。据观察,这些儿童在微观结构和宏观结构层面的口头叙事方面存在困难,尽管研究中使用的评估工具存在很大差异。本研究旨在通过从叙事微观结构和宏观结构以及语音和形态错误的角度分析口头叙事,来评估讲西班牙语的 DLD 儿童的叙事能力。他们接受了 CELF-5、Raven's 2 和 Peabody 图像词汇测试,以评估语言和认知能力水平,以及叙事评估工具多语言叙事评估工具 (MAIN)。结果两组儿童在语篇数量、平均语篇长度和所叙述事件的数量以及形态学和语音学错误的频率方面均存在显著的统计学差异。结论使用 MAIN 工具的 DLD 儿童的口述叙事比 TD 儿童的短且不详细,语音学和形态学错误也较多。因此,MAIN 可以作为评估 DLD 儿童叙述能力的合适临床工具。
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引用次数: 0
Uso de feedback visual con ecografía en la intervención de las dificultades de articulación en niños con discapacidad auditiva. Una valoración por jueces expertos: logopedas 在干预听障儿童发音困难时使用超声波视觉反馈。专家评委:言语治疗师的评估
Q3 Nursing Pub Date : 2024-06-14 DOI: 10.1016/j.rlfa.2024.100494
Judit Ayala Alcalde, Martín Martínez, Mark Gibson

Objective

This study aims to measure the effectiveness of visual biofeedback using ultrasound in addressing articulatory difficulties in children with hearing disabilities, using the judgment of experts through an auditory perception test. It is the first research of this type carried out with a Spanish-speaking population.

Method

A speech therapy intervention program was conducted with seven children with cochlear implants and/or hearing aids. External speech therapists evaluated the results through an auditory perception test that reproduces the acoustic stimuli derived from the initial (pre-test) and final (post-test) evaluations. These stimuli are presented in pairs with the assistance of a script created in MATLAB®, in two different ways: pre-post and post-pre.

Results

Results from generalized mixed-effects models indicate that, at a group level, speech therapists perceive improvements mainly in the phonemes /n/ and /r/, and in some children, in the phonemes /x/, /ɡ/, /ɾ/, /r/, /tʃ/, and /l/. The position of the phoneme within the word does not have a significant effect at the group level but does in two participants. The number of syllables in the stimuli has a significant effect at the group level for all levels.

Conclusions

These results align with previous research demonstrating the efficacy of visual biofeedback in correcting articulation errors in speech therapy intervention.

本研究旨在通过听觉感知测试,利用专家的判断来衡量使用超声波进行视觉生物反馈在解决听障儿童发音困难方面的效果。该研究是首次在讲西班牙语的人群中开展此类研究。方法对七名佩戴人工耳蜗和/或助听器的儿童进行了言语治疗干预计划。外部言语治疗师通过听觉感知测试对结果进行评估,该测试再现了初始(测试前)和最终(测试后)评估中的声音刺激。结果广义混合效应模型的结果表明,在群体水平上,言语治疗师主要在音素/n/和/r/上感受到了改善,在某些儿童中,在音素/x/、/ɡ/、/ɾ/、/r/、/tʃ/和/l/上也有改善。音素在单词中的位置在群体水平上没有显著影响,但在两名被试身上有显著影响。这些结果与之前的研究结果一致,证明了视觉生物反馈在言语治疗干预中纠正发音错误的效果。
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引用次数: 0
Resultados de la intervención logopédica en un caso de síndrome raro: un estudio de caso 对一例罕见综合征患者进行言语治疗干预的结果:案例研究
Q3 Nursing Pub Date : 2024-05-21 DOI: 10.1016/j.rlfa.2024.100490
Belén Valverde, Marta Rodríguez, Lorena García, Teresa Simón, Miguel Lázaro

In this study we present the results of a speech and language therapy intervention in a case of a child with a rare disease -partial tetrasomy 13q11q12.12. At the age of 4, a first evaluation is performed (T1), and treatment goals are set. Six months after the beginning of the treatment, the child is re-evaluated (T2) and a new specific intervention program is designed. After another 6 months of treatment, the child is evaluated again in order to know the possible progress experienced (T3). The results of the intervention show a clear progression between T1 and T2 in all the linguistic prerequisites worked on, such as attention maintenance and communicative intention. Likewise, between T2 and T3, the greatest progress is observed in the development of expressive language, although notable improvements in the aforementioned linguistic prerequisites can also be observed. These results are discussed in the light of the few previous existing studies with patients with rare genetic diseases.

在本研究中,我们介绍了对一名患有罕见疾病(13q11q12.12 部分四体综合征)的儿童进行言语和语言治疗干预的结果。在患儿 4 岁时,我们对其进行了首次评估(T1),并设定了治疗目标。治疗开始 6 个月后,对患儿进行重新评估(T2),并设计新的特定干预方案。治疗 6 个月后,再次对患儿进行评估,以了解可能取得的进展(T3)。干预结果表明,在 T1 和 T2 期 间,儿童在注意力保持和交流意图等所有语言先决条件方面都取得了明显的进步。同样,在 T2 和 T3 之间,尽管上述语言先决条件也有明显改善,但最大的进步体现在语言表达能力的发展上。我们将根据以往对罕见遗传病患者进行的少数研究来讨论这些结果。
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引用次数: 0
Programa de intervención en conciencia fonológica y lectura en un caso de síndrome de CDKL-5 针对 CDKL-5 综合症病例的语音意识和阅读干预计划。
Q3 Nursing Pub Date : 2024-04-01 DOI: 10.1016/j.rlfa.2024.100489
Laura Carretero Miranda, Begoña Zubiauz de Pedro

Purpose

The purpose of this case study, is to test out the effectiveness of an intervention program in phonological awareness (LOLE Program) to improve reading skills in a 13-year-old adolescent with CDKL-5 syndrome.

Method and data analysis

A pre-post test design was used that incorporates the dynamic assessment and the phonemic awareness (LOLEVA) and word reading (PROLEC-R) assessment.

Results

The results show an increase in syllabic and phonemic awareness skills, and a progressive acquisition of task resolution strategies, evidenced by the decrease in requested help. This improvement does not translate into greater non-word reading.

Discussion and conclusions

In cases of severe functional diversity, learning to read requires a multisensory intervention, which does not mean that phonological awareness instruction, especially if it is offered before the explicit teaching of written language, it can help learning for these people.

本案例研究的目的是测试语音意识干预计划(LOLE 计划)对提高一名患有 CDKL-5 综合征的 13 岁青少年阅读技能的效果。讨论与结论在严重功能多样性的情况下,学习阅读需要多感官干预,这并不意味着语音意识教学,尤其是在明确教授书面语言之前进行的语音意识教学,可以帮助这些人的学习。
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引用次数: 0
Intervención en un caso con dificultades en el desarrollo y adquisición del lenguaje involucrando activamente a los padres 在家长的积极参与下,对有语言发展和语言习得困难的个案进行干预
Q3 Nursing Pub Date : 2024-04-01 DOI: 10.1016/j.rlfa.2024.100488
Ana Ullán Egido, Nuria Fernández-Baza

Background and aim

Language difficulties in young children are becoming more and more frequent. Nowadays, there is a tendency to intervene early, including the child and his or her environment. The aim of this paper is to describe and analyse the development of the speech therapy intervention carried out with a child with language acquisition difficulties and his parents.

Method

Qualitative methodology to analyse the intervention through tasks given to the parents. For eight weeks, the parents recorded the frequency and degree of difficulty in carrying out the tasks and the child's linguistic evolution.

Results

Parents are consistent in performing the tasks, rating them as progressively easier. In addition, the child's linguistic evolution is favourable.

Conclusions

When the intervention actively involves the parents, the development of the intervention, the generalisation of the work in the child's environment and the child's linguistic development can be favoured.

背景和目的幼儿语言障碍的发生率越来越高。如今,人们倾向于及早进行干预,包括对儿童及其所处环境进行干预。本文旨在描述和分析对一名有语言学习困难的儿童及其父母进行的语言治疗干预的发展情况。在为期八周的时间里,家长记录了孩子完成任务的频率和困难程度,以及孩子的语言发展情况。此外,孩子的语言发展情况也很好。结论当家长积极参与干预时,干预的发展、工作在孩子所处环境中的推广以及孩子的语言发展都会得到促进。
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引用次数: 0
La Dimensión Social de la Logopedia: Una nueva Identidad en la Investigación y la Práctica 语言治疗的社会维度:研究与实践中的新身份
Q3 Nursing Pub Date : 2024-04-01 DOI: 10.1016/j.rlfa.2024.100491
Lidia Rodríguez García
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引用次数: 0
Instrumental assessment of dysphagia and dysphonia in head and neck cancer and patients’ perception: Systematic review 头颈部癌症患者吞咽困难和发音障碍的仪器评估及患者感知:系统回顾
Q3 Nursing Pub Date : 2024-03-05 DOI: 10.1016/j.rlfa.2024.100487
Daniela Oliveira Vieira , Eduarda Sousa , Mário Dinis-Ribeiro , Eurico Monteiro

Head and neck cancer (HNC) patients may experience orofacial dysfunctions that could affect quality of life. This systematic review (SR) pretends to analyze the relation between patient's perception and instrumental assessment in dysphagia and dysphonia in HNC. From 3753 articles only 25 matched the inclusion criteria. Functional patients’ perception was assessed using MDADI (26%) or SWAL-QOL (7%), HNC quality of life questionnaires (EORTC C30, H&NC35, UW-QOL – 16%), or with dichotomic questions (23%). Instrumental assessments: videofluoroscopy (77%) or fiber-optic endoscopy (23%). 68% of the included articles reveal a significant relationship between patients’ perception and instrumental assessment. Emerged three principles topics: (1) oromotor skills; (2) physiological measures; and (3) safety. This study provides new insights. Swallowing residues and bio mechanical changes show a clear relationship with patients’ awareness. It's important to continue clarified the interceptions and impacts of this disorder in clinical practice.

头颈癌(HNC)患者可能会出现口面部功能障碍,从而影响生活质量。本系统综述(SR)旨在分析 HNC 患者在吞咽困难和发音障碍方面的感知与工具评估之间的关系。在 3753 篇文章中,只有 25 篇符合纳入标准。功能性患者的感知通过 MDADI(26%)或 SWAL-QOL(7%)、HNC 生活质量问卷(EORTC C30、H&NC35、UW-QOL - 16%)或二分法问题(23%)进行评估。仪器评估:视频荧光内窥镜检查(77%)或纤维光学内窥镜检查(23%)。68%的收录文章显示患者感知与仪器评估之间存在显著关系。出现了三个原则性主题:(1)口腔运动技能;(2)生理措施;(3)安全性。本研究提供了新的见解。吞咽残留物和生物力学变化与患者的认知有明显的关系。在临床实践中继续澄清这种疾病的拦截和影响非常重要。
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引用次数: 0
期刊
Revista de Logopedia, Foniatria y Audiologia
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