RESUMO
PURPOSE: The objective of this work was to verify the efficacy of a treatment based on myofunctional therapy techniques which aimed to improve the tongue strength, precision, and speed of a ten-year-old girl with nemaline myopathy (NM) and the repercussions of this therapy on her speech intelligibility. NM is a rare congenital muscle disorder that causes extreme muscle weakness, especially in the face and neck, as well as severe dysarthria and dysphagia, although this does not affect the nervous system or cognitive development. METHOD: This was a single-subject experimental study which used an interrupted pre- and post-treatment time-series design, and which applied autoregressive integrated moving-average predictive models and Holt exponential smoothing. During the treatment phases, the participant's tongue strength and the rate of speech diadochokinesia and voluntary lingual movements were estimated and the repercussions of the intervention in terms of speech intelligibility were ascertained via an experiment with 'naïve' judges. RESULTS: The treatment produced a sustained and significant increase in the maximum strength of the patient's tongue, which increased from an initial 4 kPa to 11 kPa at the end of the treatment phase. However, this was far from the average 58 kPa for age- and sex-matched normative data. There were no significant changes either in the rates of voluntary lingual mobility or speech diadochokinesia. Speech intelligibility, as assessed by naïve judges, improved from 40 % in the pre-treatment phase to 67 % in the post-treatment phase. CONCLUSIONS: NM and other rare primary muscle disorders allow us to estimate the effects of severe muscle weakness in people with dysarthria without cognitive impairment or alterations in central nervous system, peripheral nervous system or in gap junction. In this case, the treatment did not increase the patient's lingual and articulatory movement speed but did increase her tongue strength from 5 % to 10 % of the levels otherwise expected for her age and significantly improved the intelligibility of her speech and communication.
Assuntos
Miopatias da Nemalina , Fonoterapia , Criança , Disartria , Feminino , Humanos , Inteligibilidade da Fala , Medida da Produção da Fala , LínguaRESUMO
Introducción. La miopatía nemalínica es una enfermedad rara con incidencia de 1 de cada 50.000 nacimientos vivos. Es la más prevalente de las miopatías congénitas, un conjunto heterogéneo de trastornos neuromusculares presentes en el nacimiento o de muy temprana manifestación, que afectan a la musculatura esquelética, y que provocan debilidad, hipotonía y retraso psicomotor, pero con desarrollo cognitivo normal. Objetivo. Revisar los estudios sobre los problemas de comunicación y disfagia de niños con miopatía nemalínica y los posibles abordajes desde la logopedia. Desarrollo. Todos los niños presentan disfagia, con graves problemas para la alimentación durante los tres primeros años que se mitigan con el tiempo. El 50% usará gastrostomía, aunque muchos de ellos mantengan alguna ingesta oral. La miopatía nemalínica provoca un patrón de habla claramente disártrico. La debilidad de la musculatura de la ventilación y de la cara, con limitación para cerrar la boca, conlleva hipofonía, nasalidad y acusada ininteligibilidad. Los estudios sobre tratamientos logopédicos sugieren que, ante la disartria más incapacitante, deberían usar sistemas alternativos de comunicación, en los primeros años de vida, para eliminar la frustración de la falta de expresión útil, y beneficiarse de comunicadores basados en el lenguaje escrito más adelante. En el resto, el objetivo debe ser mejorar la inteligibilidad del habla. Conclusiones. La logopedia puede aportar dos tipos de tratamientos para mejorar la calidad de vida de estos niños: el abordaje de la disfagia y la mejora de las dificultades de expresión a través del habla o de ayudas técnicas. No hay suficiente evidencia científica de la eficacia de estos tratamientos (AU)
Introduction. Nemaline myopathy is a rare disease with an incidence of 1 in every 50,000 live births. It is the most prevalent of the congenital myopathies, a heterogeneous set of neuromuscular disorders present at birth or manifesting at a very early age, which affect the skeletal muscles and give rise to weakness, hypotonia and psychomotor retardation, although cognitive development remains normal. Aim. To review the studies conducted to date on the communication difficulties and dysphagia of children with nemaline myopathy and their possible management based on speech therapy. Development. All the children presented dysphagia, with severe feeding problems during the first three years of life that nevertheless are somewhat mitigated as time goes by. In 50% of cases a gastrostomy will be used, although some oral ingestion is maintained in many of them. Nemaline myopathy gives rise to a clearly dysarthric pattern. The weakness of the muscles involved in ventilation and of the face, with a limited ability to close the mouth, leads to hypophonia, nasality and marked unintelligibility. Studies conducted on treatments based on speech therapy suggest that, in the most disabling cases of dysarthria, alternative systems of communication should be used in the first years of life so as to eliminate the frustration caused by the lack of meaningful expression. Later, communicators based on written language can be used. In the remaining cases, the aim must be to improve speech intelligibility. Conclusions. Speech therapy can contribute to improve the quality of life of these children with two types of treatment: management of their dysphagia and improvement of their communication problems through speech or technical aids. These is insufficient scientific evidence of the effectiveness of these treatments (AU)
