Objective measurement of oral function in adults with spinal muscular atrophy.

Humans Adult Pressure Tongue Muscular Atrophy, Spinal Spinal Muscular Atrophies of Childhood Outcome Assessment, Health Care
Bite force Bulbar neuromuscular function Endurance Fatigability Fatigue Outcome measures Spinal muscular atrophy Tongue pressure Validity

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
03 05 2023
Historique:
received: 28 11 2022
accepted: 02 04 2023
medline: 5 5 2023
pubmed: 4 5 2023
entrez: 3 5 2023
Statut: epublish

Résumé

Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3. Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed. The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant. Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842.

Sections du résumé

BACKGROUND
Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3.
METHODS
Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed.
RESULTS
The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant.
CONCLUSIONS
Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842.

Identifiants

DOI: 10.1186/s13023-023-02688-4 PMID: 37138365 PMC: PMC10155305
pubmed: 37138365
doi: 10.1186/s13023-023-02688-4
pii: 10.1186/s13023-023-02688-4
pmc: PMC10155305
doi:

Banques de données

DRKS
['DRKS00015842']

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

103

Informations de copyright

© 2023. The Author(s).

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Auteurs

T Kruse (T)

Department of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 32, 50931, Cologne, Germany. teresa.kruse@uk-koeln.de.
Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. teresa.kruse@uk-koeln.de.
ORCID: 0000-0002-3431-7749

S Shamai (S)

Department of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 32, 50931, Cologne, Germany.

D Leflerovà (D)

Department of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 32, 50931, Cologne, Germany.
Department of Prosthetic Dentistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 32, 50931, Cologne, Germany.

B Wirth (B)

Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

R Heller (R)

Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Genetic Health Service NZ-Northern Hub, Auckland District Health Board, Auckland City Hospital, 90-102 Grafton Rd, Grafton, NZ-Auckland, 1010, New Zealand.

N Schloss (N)

Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

H C Lehmann (HC)

Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

S Brakemeier (S)

Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.

T Hagenacker (T)

Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.

B Braumann (B)

Department of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 32, 50931, Cologne, Germany.
Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

G Wunderlich (G)

Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Objective measurement of oral function in...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Objective measurement of oral function in...
questionsmedicales.fr › Phénomènes physiques › Phénomènes mécaniques › Pression › Objective measurement of oral function in...
questionsmedicales.fr › Système stomatognathique › Bouche › Langue › Objective measurement of oral function in...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › Objective measurement of oral function in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Amyotrophies spinales infantiles › Objective measurement of oral function in...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Objective measurement of oral function in...