Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.

The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as "spinal muscular atrophy," "SMA," "cognitive," "abilities," "functions," "intellective," or "intellectual." Screening focused on titles and abstracts from English language peer-reviewed journals. After the initial research, 1452 articles were identified. Subsequent screening and selection led to the inclusion of 13 articles in the review. Among these studies, four indicated a cognitive trend within the normal range for SMA patients. In four other studies, the majority of patients fell within the normal range. However, smaller proportions were observed to be either above or below the norm compared to the controls. Three studies reported noted cognitive performance below the average, while two showed above-average scores. The scoping review suggests that most SMA patients have cognitive abilities similar to the general population, with types II and III showing even lesser impact. However, certain cognitive domains may be affected in type I patients, highlighting the need for further research to fully understand cognitive involvement in SMA.

The Musculoskeletal 30-question multiple choice questionnaire (MSK-30): a new assessing tool of musculoskeletal competence in a sample of Italian physiotherapists.

BACKGROUND: The prevalence and cost of musculoskeletal diseases increased dramatically over the past few decades. Therefore, several institutions have begun to re-evaluate the quality of their musculoskeletal educational paths. However, current standardized questionnaires inadequately assess musculoskeletal knowledge, and other musculoskeletal-specific exams have limitations in implementation. The musculoskeletal 30-question multiple choice questionnaire (MSK-30) was proposed as a new tool for assessing basic musculoskeletal knowledge. AIM: To analyse basic musculoskeletal knowledge in a sample of Italian physiotherapists by administering the MSK-30 questionnaire. METHODS: After a transcultural adaptation process, the MSK-30 was developed and administered to Italian physiotherapists to assess their musculoskeletal knowledge. Participants were invited to participate in the survey via the SurveyMonkey link. Mann-Whitney test and the Kruskal-Wallis test with Bonferroni correction were used to observe the differences between groups in the MSK-30 scores. RESULTS: Four hundred-fourteen (n=414) physiotherapists participated in the survey. The median MSK-30 value was higher in physiotherapists who attended the International Federation of Orthopaedic Manipulative Physical Therapists postgraduate certification than in those who attended unstructured postgraduate training in musculoskeletal condition or in those who had not completed any postgraduate training in this field (p<0.001). CONCLUSIONS: This work demonstrates significant differences in the management of musculoskeletal disorders between those with specific postgraduate university education and those without. The findings can contribute to the advancement of the physiotherapy profession in Italy. Authors recommend further research with more robust methodologies to deeper understand this topic. Musculoskeletal conditions will continue to represent a significant portion of primary care visits, and future generations of physiotherapists must be prepared to address this challenge.

Acute pleurisy mimicking neck pain in a young volleyball player: a case report.

INTRODUCTION: Patients presenting to direct access physiotherapists may present with a serious pathology that mimics a musculoskeletal condition. Recognition of atypical clinical patterns allows for referral to an appropriate provider when a serious pathology is present. This case report details a patient with a pulmonary pathology who presented to a physiotherapist with a complaint of neck and chest pain following medical consultations. CASE PRESENTATION: A 29-year-old amateur volleyball player arrived at the physiotherapist's clinic five days after experiencing the onset of neck pain. She complained of pain on the right side, which extended to the trapezius, as well as occasional discomfort in the lower lateral and anterior chest. The patient noted that the pain worsened when lying supine or on her left side, and during coughing. After developing symptoms resembling a cold, she sought care at two different emergency clinics where physicians diagnosed seasonal flu and an unrelated muscle strain. Despite treatment, the pain persisted, accompanied by fever and general weakness, disrupting her sleep. Following a review of a medical history and a physical examination, musculoskeletal causes of pain appeared unlikely, prompting consideration of a pulmonary pathology. Referral to a specialist was deemed necessary. CONCLUSION: This case report highlights the importance of screening for serious pathology in direct access physiotherapy, irrespective of a prior physician consultation.

Low back pain as main symptom in Low-grade Appendiceal Mucinous Neoplasm (LAMN): A case report.

BACKGROUND: Low back pain is the leading cause of disability worldwide. It is also the main cause of the limitation of activities and absence from work in much of the world and a cause of great economic burden. The greatest percentage of low back pain is classified as nonspecific (i.e. not attributable to a defined pathology), while the others may concern specific pathologies of the lumbar region or suggest pathologies of non-musculoskeletal origin. Consequently, evaluating any signs and symptoms mimicking musculoskeletal conditions is crucial. CASE DESCRIPTION: This case report describes a 64-year-old female patient who first presented to the physiotherapist with two weeks of low back pain, complaining of a different clinical presentation than the previous episodes. The patient's pain started spontaneously and was located in the lumbar region over a diffuse area. Symptoms were constant throughout the day and did not change with movement. Based on the examination findings, the physiotherapist decided to make an urgent referral to the patient's General Practitioner. OUTCOMES: Following ultrasound examination and Computed Tomography scan, an 8.5 cm mass was confirmed in the abdominal region. It was surgically removed, and a histological diagnosis of Low-grade Appendiceal Mucinous Neoplasm (LAMN) was made. CONCLUSION: The physiotherapist's evaluation and decision-making process was fundamental in the patient's referral due to suspected pathology not within the scope of practice. This revealed a rare condition, which, according to the existing literature, is usually diagnosed in the event of collateral imaging findings or upon presentation of complex and/or emergency clinical pictures.