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1.
Curr Opin Neurol ; 35(6): 741-752, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36226719

RESUMO

PURPOSE OF REVIEW: Neurogenic dysphagia worsens quality of life and prognosis of patients with different neurological disorders. Management of neurogenic dysphagia can be challenging. This review provides a comprehensive overview of current evidence on screening, diagnosis, and treatment of neurogenic dysphagia in stroke and Parkinson's disease, suggesting clues for clinical practice. RECENT FINDINGS: The pros and cons of diagnostic techniques are discussed in the light of updated evidence. Findings from recent meta-analyses of different treatment approaches, including traditional dysphagia therapy, peripheral and central neurostimulation techniques, and treatment with botulinum toxin, are critically discussed, emphasizing inconsistencies and controversial issues. SUMMARY: Screening tests and clinical swallow examination should be routinely performed in neurological patients at risk for dysphagia. In patients testing positive for dysphagia, first-line instrumental investigations, represented by fiberoptic endoscopic evaluation of swallowing or videofluoroscopic swallow study, should be performed to confirm the presence of dysphagia, to assess its severity, and to inform the treatment. Second-line and third-line instrumental methods can be used in selected patients to clarify specific pathophysiological aspects of oropharyngeal dysphagia. Treatment strategies should be personalized, and combination of traditional dysphagia therapy with innovative treatment approaches may increase the chance of restoring effective and safe swallowing.


Assuntos
Transtornos de Deglutição , Doença de Parkinson , Acidente Vascular Cerebral , Humanos , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Doença de Parkinson/diagnóstico , Qualidade de Vida , Deglutição/fisiologia , Acidente Vascular Cerebral/complicações
2.
Eur J Paediatr Neurol ; 51: 62-70, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38851145

RESUMO

RESEARCH PURPOSE: GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS. RESULTS: 30 patients with GLUT1DS were recruited. We reported impairments in different speech and oromotor domains: the speech was characterized by dysarthria, inaccurate articulation of consonants, abnormal nasal resonance, errors in intonation and prosody and low intelligibility. We observed difficulties in motor planning and programming. Moreover, we observed a significant difference between the dysarthric level of impairment with genotype groups. CONCLUSIONS: The presence of a speech disorder in patients with GLUT1DS represents a core feature of the syndrome. Our findings suggest that patients with GLUT1DS would benefit from a comprehensive neurocognitive assessment to detect strengths and weaknesses of the speech profile. Understanding the speech and language phenotype in GLUT1DS is critical for planning early intervention to positively influence the global development of patients with GLUT1DS.

3.
Front Neurol ; 14: 1238304, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37621856

RESUMO

A large constellation of hitherto unexplained symptoms including inability to burp, gurgling noises from the chest and lower neck, abdominal bloating, flatulence, painful hiccups and emetophobia was defined as Retrograde Cricopharyngeus Dysfunction (R-CPD) in 2019. First choice treatment of R-CPD involves injection of botulinum toxin into the cricopharyngeus muscle under local or general anesthesia. This treatment has been found to be effective in the vast majority of subjects, with limited adverse events and prolonged therapeutic effects. Notwithstanding, R-CPD is still a poorly understood and underestimated disease, and a specific therapeutic dosage range of botulinum toxin (BT) has not been yet established. In this report, we describe the first case of R-CPD diagnosed in Italy, successfully treated with unilateral, anesthesia-free injection of 10 units of onabotulinum toxin into the cricopharyngeus muscle, representing the lowest dose reported to date.

4.
Brain Sci ; 13(7)2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37508992

RESUMO

Primary Progressive Aphasia (PPA) is a syndrome due to different neurodegenerative disorders selectively disrupting language functions. PPA specialist care is underdeveloped. There are very few specialists (neurologists, psychiatrists, neuropsychologists, and speech therapists) and few hospital- or community-based services dedicated to the diagnosis and continuing care of people with PPA. Currently, healthcare systems struggle to provide adequate coverage of care that is too often fragmented, uncoordinated, and unresponsive to the needs of people with PPA and their families. Recently, attention has been gained by non-invasive brain stimulation techniques that allow a personalized treatment approach, such as transcranial Direct Current Stimulation (tDCS). The MAINSTREAM trial looks forward to introducing and evaluating therapeutic innovations such as tDCS coupled with language therapy in rehabilitation settings. A Multimodal Approach for Clinical Diagnosis and Treatment of Primary Progressive Aphasia, MAINSTREAM (ID: 3430931) was registered in the clinicaltrials.gov database (identifier: NCT05730023) on 15 February 2023.

5.
Neurology ; 2022 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-35584921

RESUMO

We report a case of a 60-year-old patient with a 10-year history of Parkinson's disease who developed a dyskinetic-dystonic gait pattern highly impacting his personal and social life. After multiple unsuccessful attempts to improve the clinical condition by adapting the pharmacological treatment, the patient underwent gait rehabilitation based on the use of visual cueing. This approach induced a relevant improvement in the dyskinetic-dystonic gait.Our case contributes to the phenotypic description of motor fluctuations in advanced Parkinson's disease and suggests an additional therapeutic option to mitigate their impact on motor performances.

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