Machine Learning and Symptom Patterns in Degenerative Cervical Myelopathy: Web-Based Survey Study.

BACKGROUND: Degenerative cervical myelopathy (DCM), a progressive spinal cord injury caused by spinal cord compression from degenerative pathology, often presents with neck pain, sensorimotor dysfunction in the upper or lower limbs, gait disturbance, and bladder or bowel dysfunction. Its symptomatology is very heterogeneous, making early detection as well as the measurement or understanding of the underlying factors and their consequences challenging. Increasingly, evidence suggests that DCM may consist of subgroups of the disease, which are yet to be defined. OBJECTIVE: This study aimed to explore whether machine learning can identify clinically meaningful groups of patients based solely on clinical features. METHODS: A survey was conducted wherein participants were asked to specify the clinical features they had experienced, their principal presenting complaint, and time to diagnosis as well as demographic information, including disease severity, age, and sex. K-means clustering was used to divide respondents into clusters according to their clinical features using the Euclidean distance measure and the Hartigan-Wong algorithm. The clinical significance of groups was subsequently explored by comparing their time to presentation, time with disease severity, and other demographics. RESULTS: After a review of both ancillary and cluster data, it was determined by consensus that the optimal number of DCM response groups was 3. In Cluster 1, there were 40 respondents, and the ratio of male to female participants was 13:21. In Cluster 2, there were 92 respondents, with a male to female participant ratio of 27:65. Cluster 3 had 57 respondents, with a male to female participant ratio of 9:48. A total of 6 people did not report biological sex in Cluster 1. The mean age in this Cluster was 56.2 (SD 10.5) years; in Cluster 2, it was 54.7 (SD 9.63) years; and in Cluster 3, it was 51.8 (SD 8.4) years. Patients across clusters significantly differed in the total number of clinical features reported, with more clinical features in Cluster 3 and the least clinical features in Cluster 1 (Kruskal-Wallis rank sum test: χ22=159.46; P<.001). There was no relationship between the pattern of clinical features and severity. There were also no differences between clusters regarding time since diagnosis and time with DCM. CONCLUSIONS: Using machine learning and patient-reported experience, 3 groups of patients with DCM were defined, which were different in the number of clinical features but not in the severity of DCM or time with DCM. Although a clearer biological basis for the clusters may have been missed, the findings are consistent with the emerging observation that DCM is a heterogeneous disease, difficult to diagnose or stratify. There is a place for machine learning methods to efficiently assist with pattern recognition. However, the challenge lies in creating quality data sets necessary to derive benefit from such approaches.

The significance of metabolic disease in degenerative cervical myelopathy: a systematic review.

Introduction: Degenerative cervical myelopathy (DCM) is a form of chronic spinal cord injury, with a natural history of potential for progression over time. Whilst driven by mechanical stress on the spinal cord from degenerative and congenital pathology, the neurological phenotype of DCM is likely to be modified by multiple systemic factors. The role of metabolic factors is therefore of interest, particularly given that ischaemia is considered a key pathological mechanism of spinal cord injury. The objective was therefore to synthesise current evidence on the effect of metabolism on DCM susceptibility, severity, and surgical outcomes. Methods: A systematic review in MEDLINE and Embase was conducted following PRISMA guidelines. Full-text papers in English, with a focus on DCM and metabolism, including diabetes, cardiovascular disease, anaemia, and lipid profile, were eligible for inclusion. Risk of methodological bias was assessed using the Joanna Briggs Institute (JBI) critical assessment tools. Quality assessments were performed using the GRADE assessment tool. Patient demographics, metabolic factors and the relationships between metabolism and spinal cord disease, spinal column disease and post-operative outcomes were assessed. Results: In total, 8,523 papers were identified, of which 57 met criteria for inclusion in the final analysis. A total of 91% (52/57) of included papers assessed the effects of diabetes in relation to DCM, of which 85% (44/52) reported an association with poor surgical outcomes; 42% of papers (24/57) discussed the association between cardiovascular health and DCM, of which 88% (21/24) reported a significant association. Overall, DCM patients with diabetes or cardiovascular disease experienced greater perioperative morbidity and poorer neurological recovery. They were also more likely to have comorbidities such as obesity and hyperlipidaemia. Conclusion: Metabolic factors appear to be associated with surgical outcomes in DCM. However, evidence for a more specific role in DCM susceptibility and severity is uncertain. The pathophysiology and natural history of DCM are critical research priorities; the role of metabolism is therefore a key area for future research focus. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier: CRD42021268814.

Degenerative Thoracic Myelopathy: A Scoping Review of Epidemiology, Genetics, and Pathogenesis.

STUDY DESIGN: Literature Review. OBJECTIVE: Myelopathy affecting the thoracic spinal cord can arise secondary to several aetiologies which have similar presentation and management. Consequently, there are many uncertainties in this area, including optimal terminology and definitions. Recent collaborative cervical spinal research has led to the proposal and subsequent community adoption of the name degenerative cervical myelopathy(DCM), which has facilitated the establishment of internationally-agreed research priorities for DCM. We put forward the case for the introduction of the term degenerative thoracic myelopathy(DTM) and degenerative spinal myelopathy(DSM) as an umbrella term for both DCM and DTM. METHODS: Following PRISMA guidelines, a systematic literature search was performed to identify degenerative thoracic myelopathy literature in Embase and MEDLINE. RESULTS: Conditions encompassed within DTM include thoracic spondylotic myelopathy, ossification of the posterior longitudinal ligament, ossification of the ligamentum flavum, calcification of ligaments, hypertrophy of ligaments, degenerative disc disease, thoracic osteoarthritis, intervertebral disc herniation, and posterior osteophytosis. The classic presentation includes girdle pain, gait disturbance, leg weakness, sensory disturbance, and bladder or bowel dysfunction, often with associated back pain. Surgical management is typically favoured with post-surgical outcomes dependent on many factors, including the causative pathology, and presence of additional stenosis. CONCLUSION: The clinical entities encompassed by the term DTM are interrelated, can manifest concurrently, and present similarly. Building on the consensus adoption of DCM in the cervical spine and the recent proposal of degenerative cervical radiculopathy(DCR), extending this common nomenclature framework to the terms degenerative spinal myelopathy and degenerative thoracic myelopathy will help improve recognition and communication.

Rapidly Deteriorating Degenerative Cervical Myelopathy Following Ventricular Shunt Revision for Hydrocephalus: Case Report.

A female patient in her early 40s presented with a several-month history of gait unsteadiness and dragging her left leg. She had a background of congenital hydrocephalus, treated with a ventriculoatrial shunt. On examination, she had increased tone and brisk reflexes in the lower limbs and a positive Hoffmann sign. A computed tomography (CT) scan and shunt series x-rays identified hydrocephalus secondary to a disconnected shunt. Magnetic resonance imaging (MRI) of her cervical spine was also performed as part of the workup for her presenting symptoms and demonstrated features compatible with degenerative cervical myelopathy (DCM). The patient subsequently underwent a shunt revision. Following the operation, her walking and hand function deteriorated over a period of several weeks. She consequently underwent an anterior cervical decompression and fusion for DCM, which partially improved her symptoms. The sequence of events suggests that the shunt surgery may have precipitated a worsening of the DCM. Possible explanations include spinal cord injury related to neck extension or hypoperfusion during intubation and general anesthesia or the loss of cerebrospinal fluid cushioning following the reinstitution of effective cerebrospinal fluid shunting. Surgeons should be alert to this possibility and offer prompt surgical intervention for DCM if required.

A single centre service evaluation of degenerative cervical and thoracic myelopathy.

BACKGROUND: Degenerative cervical myelopathy (DCM) and degenerative thoracic myelopathy (DTM) present with leg, bladder and bowel symptoms. If imaging confirms spinal cord compression both conditions are usually managed surgically. Surgical timing is important in patient management as it affects post-operative recovery and long-term outcomes. This service evaluation aims to explore whether that patients with DTM are more likely to be treated urgently than those with DCM and to examine whether any differences in management are justified. METHODS: A retrospective service evaluation was registered and approved by the Cambridge University Hospitals NHS Foundation Trust (CUH) Clinical Audit Department (Clinical Project ID4455 PRN10455). All patients who had undergone surgery for DTM at CUH from January 2015 until April 2022 were included. Comparison was made to a cohort of DCM patients who underwent surgery at CUH from June 2016 to January 2019. Data analysis was conducted in R. RESULTS: A total of 130 DCM patients and 78 DTM patients were included. Our DCM and DTM patient cohorts had comparable demographics, but DTM patients had fewer spinal levels affected. Despite equivalent disease severity, DTM patients had a shorter time to diagnosis, shorter wait for surgery and were more likely to be operated on as an emergency case. CONCLUSIONS: Despite comparable demographics and pathophysiology, DTM was diagnosed and managed more quickly than DCM. Better defined diagnostic pathways for degenerative spinal myelopathy may hold opportunities to optimise diagnosis and management, ensuring consistent high quality, efficient and equitable care.

The value of Clinical signs in the diagnosis of Degenerative Cervical Myelopathy - A Systematic review and Meta-analysis.

STUDY DESIGN: Delayed diagnosis of degenerative cervical myelopathy (DCM) is likely due to a combination of its subtle symptoms, incomplete neurological assessments by clinicians and a lack of public and professional awareness. Diagnostic criteria for DCM will likely facilitate earlier referral for definitive management. OBJECTIVES: This systematic review aims to determine (i) the diagnostic accuracy of various clinical signs and (ii) the association between clinical signs and disease severity in DCM? METHODS: A search was performed to identify studies on adult patients that evaluated the diagnostic accuracy of a clinical sign used for diagnosing DCM. Studies were also included if they assessed the association between the presence of a clinical sign and disease severity. The QUADAS-2 tool was used to evaluate the risk of bias of individual studies. RESULTS: This review identified eleven studies that used a control group to evaluate the diagnostic accuracy of various signs. An additional 61 articles reported on the frequency of clinical signs in a cohort of DCM patients. The most sensitive clinical tests for diagnosing DCM were the Tromner and hyperreflexia, whereas the most specific tests were the Babinski, Tromner, clonus and inverted supinator sign. Five studies evaluated the association between the presence of various clinical signs and disease severity. There was no definite association between Hoffmann sign, Babinski sign or hyperreflexia and disease severity. CONCLUSION: The presence of clinical signs suggesting spinal cord compression should encourage health care professionals to pursue further investigation, such as neuroimaging to either confirm or refute a diagnosis of DCM.

The Frequency of Symptoms in Patients With a Diagnosis of Degenerative Cervical Myelopathy: Results of a Scoping Review.

STUDY DESIGN: Delayed diagnosis of degenerative cervical myelopathy (DCM) is associated with reduced quality of life and greater disability. Developing diagnostic criteria for DCM has been identified as a top research priority. OBJECTIVES: This scoping review aims to address the following questions: What is the diagnostic accuracy and frequency of clinical symptoms in patients with DCM? METHODS: A scoping review was conducted using a database of all primary DCM studies published between 2005 and 2020. Studies were included if they (i) assessed the diagnostic accuracy of a symptom using an appropriate control group or (ii) reported the frequency of a symptom in a cohort of DCM patients. RESULTS: This review identified three studies that discussed the diagnostic accuracy of various symptoms and included a control group. An additional 58 reported on the frequency of symptoms in a cohort of patients with DCM. The most frequent and sensitive symptoms in DCM include unspecified paresthesias (86%), hand numbness (82%) and hand paresthesias (79%). Neck and/or shoulder pain was present in 51% of patients with DCM, whereas a minority had back (19%) or lower extremity pain (10%). Bladder dysfunction was uncommon (38%) although more frequent than bowel (23%) and sexual impairment (4%). Gait impairment is also commonly seen in patients with DCM (72%). CONCLUSION: Patients with DCM present with many different symptoms, most commonly sensorimotor impairment of the upper extremities, pain, bladder dysfunction and gait disturbance. If patients present with a combination of these symptoms, further neuroimaging is indicated to confirm the diagnosis of DCM.

The Diagnosis and Management of Autism Spectrum Disorder (ASD) in Adult Females in the Presence or Absence of an Intellectual Disability.

We review the reasons for the greater male predominance in the diagnosis of autism spectrum disorder in the non-intellectual disabled population and compare it to autism diagnosed in intellectually disabled individuals. Accurate and timely diagnosis is important, as it reduces health inequalities. Females often present later for the diagnosis. The differences are in core features, such as in social reciprocal interaction through 'camouflaging' and restricted repetitive behaviours, that are less noticeable in females and are potentially explained by the biological differences (female protective effect theory) and/or differences in presentation between the two sexes (female autism phenotype theory). Females more often present with internalising co-occurring conditions than males. We review these theories, highlighting the key differences and the impact of a diagnosis on females. We review methods to potentially improve diagnosis in females along with current and future management strategies.

Reducing global health inequalities for a rare disorder: evaluating the international Prader-Willi Syndrome Organisation's Echo® programme.

BACKGROUND: People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in that country. The International Prader-Willi Syndrome Organisation (IPWSO) established Project ECHO® with the aim of facilitating the sharing of knowledge and the building of international partnerships to reduce global health inequalities for a particular rare genetically-determined neurodevelopmental disorder, Prader-Willi Syndrome (PWS). Four different ECHO programmes were established for the following groups: (a) Individuals (usually parents) who had taken on a leadership role in their country; (b) health professionals interested in PWS; (c) professional care providers supporting children and adults with PWS; and (d) a Latin American ECHO in Spanish. The programme started in 2020 and an evaluation was undertaken after one year to determine: the extent to which IPWSO had been able to recruit and retain individuals globally; the nature and extent of any benefits gained from the sessions; and examples of how individual involvement in the programme had led to local benefits. The methods included analysing routinely kept process indicators and survey data from the attendees of one component of the programme (the Leadership ECHO), together with a qualitative analysis of survey data and recorded interviews of attendees from countries of differing socio-economic status. RESULTS: We describe the IPWSO ECHO programme and report on the outcomes from the evaluation of one aspect of the programme, the Leadership ECHO. Attendance of the Leadership ECHO sessions was satisfactory, with a mean of 24.7 participants, with participants attending a mean of 5.67 sessions, i.e., 30% of sessions. There was also good global reach, with individuals attending from 34 countries, although there were notable geographic regions with very limited representation. Feedback and interviews demonstrated the positive impact of the programme with some early evidence of positive developments at national level. CONCLUSIONS: Families and professionals from countries with a range of expertise and services offered to people with PWS remained engaged throughout the ECHO programme, established networks of support and fostered the development of good practice.

Learning Environment is the Prevailing Factor in Surgical Residents' Favorite Rotations.

OBJECTIVE: Understand the characteristics of residents' favorite rotations to improve the ability of educators to maximize positive learning experiences. DESIGN: Novel cross-sectional survey developed through thematic analysis of focus groups with residents using 4-point Likert scales ranked from "Not at all important" to "Extremely important." SETTING: Single university-affiliated urban hospital PARTICIPANTS: Clinical surgical residents BACKGROUND: Resident assessments of learning experiences vary between rotations leading to the development of "favorite" rotations. MATERIALS AND METHODS: A novel survey instrument containing 31 characteristics divided into 4 thematic categories was developed following analysis of surgical resident focus groups. Clinical surgical residents were asked how important each characteristic was for determining their favorite rotation on a 4-point Likert Scale from "not at all important" to "extremely important." Two-sided independent sample T-tests were used. RESULTS: The response rate was 59% (33/56) with proportional representation of postgraduate levels. Overall, 67% (22/33) of residents reported their favorite rotation was in their preferred specialty, 70% (23/33) reported their favorite rotation required >70 hours per week in the hospital, and 97% (32/33) of residents reported their favorite rotation required <2 days of clinic. Overall, the average ranking of the categories from most to least important was content (mean = 2.84, SD = 0.48), learning environment (mean = 2.67, SD = 0.57), working environment (mean = 2.38, SD = 0.56), and accomplishment (mean = 2.31, SD = 0.57). The only category with a statistically significant difference between junior and senior resident was content with seniors ranking it most important (mean = 3.35, SD = 0.93) compared to junior residents who ranked it least important (mean = 2.21, SD = 1.25), p = 0.01. Personal characteristics such as "Attendings cared about my learning" (mean = 3.56, SD = 0.50) and "I felt good at my job" (mean = 3.45, SD = 0.67), tended to be more important than structural characteristics such as "call schedule" (mean = 2.71, SD = 0.86), "formal didactics" (mean = 2.67, SD = 1.04), and "work-life balance" (mean = 2.70, SD = 0.99). CONCLUSIONS: This study demonstrates a novel understanding of the factors that contribute to resident preferences for certain rotations. Junior and senior residents attribute importance differently, which may provide the basis for level-appropriate improvements. Personal factors tended to be more contributory than structural factors, highlighting additional dimensions to examine when considering how to optimize certain rotations.

The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.

The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer's disease: Down syndrome-associated Alzheimer's disease in (DSAD) and Autosomal Dominant Alzheimer's disease (ADAD) are compared with the late-onset form of the disease (LOAD). DSAD and ADAD present in a younger population and are more likely to manifest with non-amnestic (such as dysexecutive function features) in the prodromal phase or neurological features (such as seizures and paralysis) especially in ADAD. The very large variety of mutations associated with ADAD explains the wider range of phenotypes. In the LOAD, age-associated comorbidities explain many of the phenotypic differences.