Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach

被引：1

作者：

Kruse, Teresa ^{[1
,2
,3
]}

Leflerova, Diana ^{[1
,2
]}

Cap, Annette ^{[1
,2
]}

Portegys, Sara ^{[1
,2
]}

Wirth, Brunhilde ^{[1
,2
,3
,4
]}

Heller, Raoul ^{[1
,2
,3
,4
,5
]}

Brakemeier, Svenja ^{[6
,7
]}

Hagenacker, Tim ^{[6
,7
]}

Braumann, Bert ^{[1
,2
,3
]}

Wunderlich, Gilbert ^{[1
,2
,3
]}

机构：

[1] Univ Cologne, Fac Med, Dept Orthodont, Kerpener Str 32, D-50931 Cologne, Germany

[2] Univ Hosp Cologne, Univ Cologne, Kerpener Str 32, D-50931 Cologne, Germany

[3] Univ Cologne, Ctr Rare Dis Cologne, Cologne, Germany

[4] Univ Cologne, Ctr Mol Genet, Cologne, Germany

[5] Auckland City Hosp, Genet Hlth Serv NZ Northern Hub, Auckland Dist Hlth Board, 90-102 Grafton Rd, Auckland 1010, New Zealand

[6] Univ Hosp Essen, Dept Neurol, Essen, Germany

[7] Univ Hosp Essen, Ctr Translat Neuro & Behav Sci C TNBS, Essen, Germany

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

关键词：

Spinal muscular atrophy; Bulbar neuromuscular function; Outcome measures; Bite force; Tongue pressure; Endurance; MASTICATORY PERFORMANCE; CRANIOFACIAL MORPHOLOGY; TONGUE PRESSURE; MUSCLE FUNCTION; SMN1; AGE; IDENTIFICATION; MALOCCLUSION; ADOLESCENTS; NUSINERSEN;

D O I：

10.1186/s13023-024-03405-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BackgroundOral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with SMA are affected to varying degrees. Detecting differences in bite and tongue force, endurance, and maximum mouth opening has become particularly promising since the introduction of causal therapy for SMA. This study aimed to compare oral function among adult persons with SMA with different SMA types, walking abilities, and treatment status to a healthy control group.MethodsData from oral function tests conducted on 58 persons with SMA and 45 healthy individuals were analyzed. Differences in oral function between SMA subgroups were pairwise tested and compared to the healthy control group using Wilcoxon rank sum tests.ResultsIn an overall comparison, three out of five oral function tests revealed lower values for the SMA group compared to the control group. Subgroup analyses indicated lower scores for most oral function tests in non-ambulatory, untreated patients with SMA type 2 compared to controls. Ambulatory, treated patients with SMA type 3 achieved strength and endurance values comparable to those of healthy individuals.ConclusionsThe impairment of oral function varies across persons with SMA. Routine measurement of oral function is warranted to determine individual bulbar involvement stages. Further evaluation should be scheduled if indicators such as restricted maximum mouth opening arise.Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/register/de/trial/DRKS00015842/preview.ConclusionsThe impairment of oral function varies across persons with SMA. Routine measurement of oral function is warranted to determine individual bulbar involvement stages. Further evaluation should be scheduled if indicators such as restricted maximum mouth opening arise.Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/register/de/trial/DRKS00015842/preview.

引用

页数：13

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