Orphanet journal of rare diseases · 2025
Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zang Jana, Weiss Deike, Dumitrascu Charlotte, Glinzer Julia, Wegner Marie, Strube Anna, Denecke Jonas, Niessen Almut, Pflug Christina
Аннотация
BACKGROUND: Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient's quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening (MMO) is suspected to be reduced in children with SMA. However, no published MMO values exist for SMA children younger than 24 months. This study presents a novel approach to measuring MMO in infants and toddlers with SMA and compares it with healthy controls.
METHODS: Children with SMA (0-24 months) who received disease-modifying therapy at a single neuropediatric center and similarly aged healthy children were prospectively recruited. MMO was measured using a cardboard scale and a custom-designed instrument.
RESULTS: A total of 115 children were included (SMA = 24, healthy controls = 91). Inter-rater reliability between two examiners was excellent (ICC = 0.987, 95% CI 0.959 to 0.995), as was the reliability between the cardboard scale and the custom-designed instrument (ICC = 0.986, 95% CI 0.968 to 0.994). A mixed linear model showed a significant increase of MMO with age, and a significantly wider mouth opening in healthy controls (p < .001).
CONCLUSION: For future research, MMO can provide valuable information about the involvement of cranial nerves, particularly in the context of disease-modifying therapies, even at a very early age.
METHODS: Children with SMA (0-24 months) who received disease-modifying therapy at a single neuropediatric center and similarly aged healthy children were prospectively recruited. MMO was measured using a cardboard scale and a custom-designed instrument.
RESULTS: A total of 115 children were included (SMA = 24, healthy controls = 91). Inter-rater reliability between two examiners was excellent (ICC = 0.987, 95% CI 0.959 to 0.995), as was the reliability between the cardboard scale and the custom-designed instrument (ICC = 0.986, 95% CI 0.968 to 0.994). A mixed linear model showed a significant increase of MMO with age, and a significantly wider mouth opening in healthy controls (p < .001).
CONCLUSION: For future research, MMO can provide valuable information about the involvement of cranial nerves, particularly in the context of disease-modifying therapies, even at a very early age.