Publications by authors named "J F Casiraghi"
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.
View Article and Find Full Text PDFThere has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.
View Article and Find Full Text PDFPurpose: The aim of this study was to adapt the Upper Extremity Functional Index (UEFI) to an Italian population affected by Facioscapulohumeral muscular dystrophy (FSHD) by translating and validating this instrument in an Italian cohort.
Materials And Methods: Five Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, fifty-two patients were recruited for the validation purpose by serially completing the UEFI-IT and a battery of clinical assessments and questionnaires.
The primary aim of this study was to explore current caregivers' expectations on possible functional changes following treatment in comparison to data obtained in the pre-pharmacological era. A questionnaire, previously used in 2016, was administered to caregivers of type II and III SMA patients of age between 3 and 71 years, and to patients over the age of 13 years. The questionnaire focuses on (1) caregivers and patients expectations, (2) meaningfulness of the changes observed on the functional motor scales, and (3) their willingness to be enrolled in a clinical trial.
View Article and Find Full Text PDFArticle Synopsis
- Bulbar and jaw muscle impairments in SMA patients are assessed using various performance tests, revealing significant issues with mastication and swallowing in both children and adults, especially in sitters compared to walkers.
- A 2-year study of 78 participants demonstrated that a substantial percentage of children experienced reduced mouth opening and prolonged eating times, while treated adults had normal oral function metrics contrasted with untreated adults showing severe impairments.
- Long-term treatment with nusinersen appears to stabilize oro-bulbar functions in SMA patients, as the majority reported minimal issues with swallowing and mastication, suggesting the need for more effective evaluation measures in this area.