Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia

Félix, Erika; Gimenes, Ana Cristina; Costa‐Carvalho, Beatriz Tavares

doi:10.1002/ppul.22828

Cited by 30 publications

(31 citation statements)

References 43 publications

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“…Very scant A-T-specific data are available, but a recent longitudinal study assessed spirometry, subjective sensation of dyspnoea, MIP, MEP and quality of life before and after a 24-week inspiratory muscle training programme in 11 A-T patients and nine healthy volunteers. It was shown that inspiratory muscle training was effective in improving ventilatory pattern, lung volume, respiratory muscle strength and the health and vitality domains of quality of life in patients with A-T. Inspiratory muscle training may be an effective adjunct therapy to drug treatment for patients with A-T [49]. Whether or not swallow safety to reduce aspiration improves after RMST, as has been shown for some other neurodegenerative conditions was not evaluated in this study [50].…”

Section: Cough and Mucociliary Clearancementioning

confidence: 71%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

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Section: Cough and Mucociliary Clearancementioning

confidence: 71%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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“…77,104,109 Additional recommendations for reducing the risk of aspiration are discussed in the section 'Nutrition'. 77,104,109 Additional recommendations for reducing the risk of aspiration are discussed in the section 'Nutrition'.…”

Section: Neurological Causesmentioning

confidence: 99%

“…Respiratory muscle strength training, chest physiotherapy, and cough-assist devices can be useful in improving pulmonary function and reducing aspiration. 77,104,109 Additional recommendations for reducing the risk of aspiration are discussed in the section 'Nutrition'.…”

Section: Neurological Causesmentioning

confidence: 99%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

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“…A small study of 11 individuals with A-T found that inspiratory muscle training could improve respiratory muscle strength and quality of life for people with A-T [160]. …”

Section: Introductionmentioning

confidence: 99%

Ataxia telangiectasia: a review

Rothblum-Oviatt

Wright²,

Lefton‐Greif

et al. 2016

Orphanet J Rare Dis

473

488

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Definition of the diseaseAtaxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome.EpidemiologyThe world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births.Clinical descriptionA-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations.EtiologyA-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.DiagnosisThe diagnosis of A-T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities (e.g. IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels). Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the finding of an absence or deficiency of the ATM protein or its kinase activity in cultured cell lines, and/or identification of the pathological mutations in the ATM gene.Differential diagnosisThere are several other neurologic and rare disorders that physicians must consider when diagnosing A-T and that can be confused with A-T. Differentiation of these various disorders is often possible with clinical features and selected laboratory tests, including gene sequencing.Antenatal diagnosisAntenatal diagnosis can be performed if the pathological ATM mutations in that family have been identified in an affected child. In the absence of identifying mutations, antenatal diagnosis can be made by haplotype analysis if an unambiguous diagnosis of the affected child has been made through clinical and laboratory findings and/or ATM protein analysis.Genetic counselingGenetic counseling can help family members of a patient with A-T understand when genetic testing for A-T is feasible, and how the test results should be interpreted.Management and prognosisTreatment of the neurologic problems associated wit...

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Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia

Abstract: IMT was effective in improving ventilatory pattern, lung volume, respiratory muscle strength, and the health and vitality domains for quality of life in patients with AT. IMT may be an effective adjunct therapy to drug treatment for patients with AT.

Cited by 30 publications

References 43 publications

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Ataxia telangiectasia: a review

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