Cargando…

Respiratory Function in Friedreich’s Ataxia

Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently...

Descripción completa

Detalles Bibliográficos
Autores principales: Vinante, Elena, Colombo, Elena, Paparella, Gabriella, Martinuzzi, Michela, Martinuzzi, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497209/
https://www.ncbi.nlm.nih.gov/pubmed/36138628
http://dx.doi.org/10.3390/children9091319
_version_ 1784794458032701440
author Vinante, Elena
Colombo, Elena
Paparella, Gabriella
Martinuzzi, Michela
Martinuzzi, Andrea
author_facet Vinante, Elena
Colombo, Elena
Paparella, Gabriella
Martinuzzi, Michela
Martinuzzi, Andrea
author_sort Vinante, Elena
collection PubMed
description Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently observed. However, in the literature there are few, dated studies with small cohorts. Our study aims to make an objective analysis of the respiratory condition of both early and late stage FRDA patients, looking for correlations with the motor, skeletal, speech and genetic aspects of this condition. Materials and methods: This retrospective observational study is based on the collection of clinical and instrumental respiratory data of 44 subjects between 13 and 51 years attending a tertiary rehabilitation centre in northern Italy. The analysis was carried out using Pearson’s correlation test, ANOVA test and post hoc tests. Results: Data show the presence of a recurrent pattern of respiratory dysfunction of a restrictive type, with reduction in forced vital capacity and of flow and pressure parameters. The severity of the respiratory condition correlates with the disease severity (measured with disease-specific scales), with pneumophonic alterations and with the severity of the thoracic scoliotic curve. Conclusions: Respiratory function is impaired at various degrees in FRDA. The complex condition of inco-ordination and hyposthenia in FRDA affects daytime and night-time respiratory efficiency. We believe that the respiratory deficit and the inefficiency of cough are indeed a clinical problem deserving consideration, especially in the context of the concomitant postural difficulty and the possible presence of dysphagia. Therefore, the rehabilitation project for the subject with FRDA should also consider the respiratory function.
format Online
Article
Text
id pubmed-9497209
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-94972092022-09-23 Respiratory Function in Friedreich’s Ataxia Vinante, Elena Colombo, Elena Paparella, Gabriella Martinuzzi, Michela Martinuzzi, Andrea Children (Basel) Article Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently observed. However, in the literature there are few, dated studies with small cohorts. Our study aims to make an objective analysis of the respiratory condition of both early and late stage FRDA patients, looking for correlations with the motor, skeletal, speech and genetic aspects of this condition. Materials and methods: This retrospective observational study is based on the collection of clinical and instrumental respiratory data of 44 subjects between 13 and 51 years attending a tertiary rehabilitation centre in northern Italy. The analysis was carried out using Pearson’s correlation test, ANOVA test and post hoc tests. Results: Data show the presence of a recurrent pattern of respiratory dysfunction of a restrictive type, with reduction in forced vital capacity and of flow and pressure parameters. The severity of the respiratory condition correlates with the disease severity (measured with disease-specific scales), with pneumophonic alterations and with the severity of the thoracic scoliotic curve. Conclusions: Respiratory function is impaired at various degrees in FRDA. The complex condition of inco-ordination and hyposthenia in FRDA affects daytime and night-time respiratory efficiency. We believe that the respiratory deficit and the inefficiency of cough are indeed a clinical problem deserving consideration, especially in the context of the concomitant postural difficulty and the possible presence of dysphagia. Therefore, the rehabilitation project for the subject with FRDA should also consider the respiratory function. MDPI 2022-08-29 /pmc/articles/PMC9497209/ /pubmed/36138628 http://dx.doi.org/10.3390/children9091319 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Vinante, Elena
Colombo, Elena
Paparella, Gabriella
Martinuzzi, Michela
Martinuzzi, Andrea
Respiratory Function in Friedreich’s Ataxia
title Respiratory Function in Friedreich’s Ataxia
title_full Respiratory Function in Friedreich’s Ataxia
title_fullStr Respiratory Function in Friedreich’s Ataxia
title_full_unstemmed Respiratory Function in Friedreich’s Ataxia
title_short Respiratory Function in Friedreich’s Ataxia
title_sort respiratory function in friedreich’s ataxia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497209/
https://www.ncbi.nlm.nih.gov/pubmed/36138628
http://dx.doi.org/10.3390/children9091319
work_keys_str_mv AT vinanteelena respiratoryfunctioninfriedreichsataxia
AT colomboelena respiratoryfunctioninfriedreichsataxia
AT paparellagabriella respiratoryfunctioninfriedreichsataxia
AT martinuzzimichela respiratoryfunctioninfriedreichsataxia
AT martinuzziandrea respiratoryfunctioninfriedreichsataxia