Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.

Pathogenic variants in the gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features. However, rare variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Here we describe an 11-year-old girl with epilepsy, walking disorder, and neurodevelopmental disorder.

Are Extracorporeal Shock Waves Just a Therapeutic Tool?

Background: Focused extracorporeal shock wave therapy (ESWT) has been successfully used to treat musculoskeletal conditions, but ESWT stimulates nociceptors, causing pain deep in the tissue during treatment. The occurrence of pain during ESWT is a side effect, but it can help identify painful sites and assess minimum (MiTI) and maximum (MaTI) pain thresholds to ESWT pressure stimuli. This topic has received limited attention in literature.

Snapshot of Fall Prevention in Patients Referred to a Neurorehabilitation Unit: A Feasibility Study on the Use of an Airbag Device.

Active wearable devices such as protective smart belts have been proposed to reduce hip impact in the event of a fall. This study primarily evaluated the feasibility and acceptance of a specific protective belt among selected patients identified as being at risk of falling who were admitted to an ICS Maugeri Neurorehabilitation Unit from September 2022 to April 2023. According to previous institutional observations, the device was worn between the 6th and 21st days of recovery.

Perceptual and qualitative voice alterations detected by GIRBAS in patients with Parkinson's disease: is there a relation with lung function and oxygenation?

Background: Impairments in respiration, voice and speech are common in people with Parkinson's disease (PD).

Aims: To evaluate the prevalence of dysphonia, assessed by a specific acoustic evaluation and description of the voice by the speech therapist (GIRBAS), and its relation with lung function and oxygenation, in particular cough ability and during the night or exercise desaturation.

Methods: This is a posthoc analysis of a prospective cross-sectional observational study on PD patients collecting anthropometric and clinical data, comorbidities, PD severity, motor function and balance, respiratory function at rest, during exercise and at night, voice function with acoustic analysis and presence of speech disorders, in addition to the GIRBAS scale.