Changes detected in swallowing function in Friedreich ataxia over 12 months

Keage, Megan; Delatycki, Martin B.; Dyer, Jessamy; Corben, Louise A.; Vogel, Adam P.

doi:10.1016/j.nmd.2019.08.013

Cited by 7 publications

(5 citation statements)

References 33 publications

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“…On the other hand, data on cerebellar lesions resulting This might be caused by disturbed coordination of the tongue, due to cerebellar dysfunction. A similar dysphagia pattern has been reported in patients with neurodegenerative disorder such as spinocerebellar ataxia [22].…”

Section: Discussionsupporting

confidence: 81%

Prevalence, recovery and phenotype of dysphagia in patients with ischaemic cerebellar stroke

Schaefer,

Luft,

Seiler

et al. 2024

Euro J of Neurology

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Background and purposeSwallowing is a complex task, moderated by a sophisticated bilateral network including multiple supratentorial regions, the brainstem and the cerebellum. To date, conflicting data exist about whether focal lesions to the cerebellum are associated with dysphagia. Therefore, the aim of the study was to evaluate dysphagia prevalence, recovery and dysphagia pattern in patients with ischaemic cerebellar stroke.MethodsA retrospective analysis of patients consecutively admitted to an academic stroke centre with ischaemic stroke found only in the cerebellum was performed. The presence of dysphagia was the primary end‐point and was assessed by a speech‐language pathologist, according to defined criteria. Dysphagia pattern was evaluated by analysing the videos of the flexible endoscopic evaluation of swallowing. Brain imaging was used to identify lesion size and location associated with dysphagia.ResultsBetween January 2016 and December 2021, 102 patients (35.3% female) with a mean age of 52.8 ± 17.3 years were included. Thirteen (12.7%) patients presented with dysphagia. The most frequently observed flexible endoscopic evaluation of swallowing phenotype was premature spillage (n = 7; 58.3%), whilst significant residues or aspiration did not occur. One patient died (7.7%); the other patients showed improvement of dysphagia and one patient (7.7%) was discharged with dietary restrictions.ConclusionsAlthough the involvement of the cerebellum in deglutition has become increasingly evident, isolated lesions to the cerebellum are less likely to cause clinically relevant and persisting dysphagia compared to other brain regions. The observed dysphagia pattern shows a lack of coordination and control, resulting in premature spillage or fragmented bolus transfer in some patients.

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Section: Discussionsupporting

confidence: 81%

Prevalence, recovery and phenotype of dysphagia in patients with ischaemic cerebellar stroke

Schaefer,

Luft,

Seiler

et al. 2024

Euro J of Neurology

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“…More sensitive measures of neurologic functions that keep worsening in wheelchairbound patients are needed. These include speech, 22 swallowing, 23 vision, hearing, and upper limb coordination. The Composite Cerebellar Functional Severity score, 24 assessing upper limb coordination under visual control in 2 timed functional tests, may be more sensitive to progression in nonambulatory patients.…”

Section: Discussionmentioning

confidence: 99%

Neurologic outcomes in Friedreich ataxia

Pandolfo

2020

Neurol Genet

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ObjectiveTo investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales.MethodsClinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average prospective follow-up of 4 years.ResultsAfferent ataxia predated other features of FRDA, followed by cerebellar ataxia and pyramidal weakness. The Scale for the Assessment and Rating of Ataxia (SARA) best detected progression in ambulatory patients and in the first 20 years of disease duration but did not effectively capture progression in advanced disease. Dysarthria, sitting, and upper limb coordination items kept worsening after loss of ambulation. Eighty percent of patients needing support to walk lost ambulation within 2 years. Age at onset had a strong influence on progression of neurologic and functional deficits, which was maximal in patients with symptom onset before age 8 years. All these patients became unable to walk by 15 years after onset, significantly earlier than patients with later onset. Progression in the previous 1 or 2 years was not predictive of progression in the subsequent year.ConclusionsThe SARA is a sensitive outcome measure in ambulatory patients with FRDA and has an excellent correlation with functional capabilities. Ambulatory patients with onset before age 8 years showed the fastest measurable worsening. Loss of ambulation in high-risk patients is a disease milestone that should be considered as an end point in clinical trials.

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“…The study results also indicate that dysphagia worsens with the duration and severity of the disease. The progression of dysphagia after one year was assessed in 23 adults with FRDA (87% had childhood onset) [ 73 ]. Swallowing-related quality of life, oral motor function and swallowing related health was stable after one year but more impaired tongue, pharyngeal, and cricopharyngeal function was observed in the swallowing examination (VFSS).…”

Section: Resultsmentioning

confidence: 99%

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021

Sjögreen

Lisa

2022

Journal of Neuromuscular Diseases

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Background: The knowledge about the impact of oral motor impairment in neuromuscular diseases (NMDs) is limited but increasing. Objective: The aim of this review was to collect and compile knowledge on how muscle weakness in congenital or early developing NMDs directly or indirectly affects feeding, swallowing, speech and saliva control. Methods: A literature search was performed in PubMed from January 1, 1998, to August 31, 2021. The keywords “feeding”, “dysphagia”, “swallowing”, “dysarthria”, “speech”, “drooling” and “sialorrhea” were used in combination with “paediatric neuromuscular disease” or specific diagnoses. Results: Sixty-five studies were selected for the review, 33 focused on feeding and swallowing, 11 on speech, four on a combination of feeding, swallowing, saliva control or speech and 17 general descriptions. Most of the studies reported on patients with a disorder affecting muscles. These studies show that muscle weakness and impaired motility affecting the muscles innervated by the cranial nerves may influence feeding, swallowing, and speech, and that respiratory function, general health and neurodevelopmental delay also influence these functions. Feeding impairment and breathing difficulties are common in NMDs. Lifesaving interventions such as tube feeding and ventilatory support are common in severe cases. Conclusions: Feeding impairment, dysphagia and dysarthria are prevalent in NMDs with congenital or early age of onset. Feeding and swallowing has been studied more than speech and saliva control. More children with NMD survive thanks to new treatment options and it is therefore urgent to follow up how these therapies may impact the development of feeding, swallowing, and speech.

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Changes detected in swallowing function in Friedreich ataxia over 12 months

Cited by 7 publications

References 33 publications

Prevalence, recovery and phenotype of dysphagia in patients with ischaemic cerebellar stroke

Prevalence, recovery and phenotype of dysphagia in patients with ischaemic cerebellar stroke

Neurologic outcomes in Friedreich ataxia

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021

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