Decision-making and referral processes for patients with motor neurone disease: a qualitative study of GP experiences and evaluation of a new decision-support tool

Background The diagnosis of motor neurone disease (MND) is known to be challenging and there may be delay in patients receiving a correct diagnosis. This study investigated the referral process for patients who had been diagnosed with MND, and whether a newly-developed tool (The Red Flags checklist) might help General Practitioners (GPs) in making referral decisions. Methods We carried out interviews with GPs who had recently referred a patient diagnosed with MND, and interviews/surveys with GPs who had not recently referred a patient with suspected MND. We collected data before the Red Flags checklist was introduced; and again one year later. We analysed the data to identify key recurring themes. Results Forty two GPs took part in the study. The presence of fasciculation was the clinical feature that most commonly led to consideration of a potential MND diagnosis. GPs perceived that their role was to make onward referrals rather than attempting to make a diagnosis, and delays in correct diagnosis tended to occur at the specialist level. A quarter of participants had some awareness of the newly-developed tool; most considered it useful, if incorporated into existing systems. Conclusions While fasciculation is the most common symptom associated with MND, other bulbar, limb or respiratory features, together with progression should be considered. There is a need for further research into how decision-support tools should be designed and provided, in order to best assist GPs with referral decisions. There is also a need for further work at the level of secondary care, in order that referrals made are re-directed appropriately

Enteral feeding in neurological disorders

Malnutrition and weight loss, due to suboptimal oral intake, are common in patients with neurological disorders, and associated with increased morbidity, disability and mortality. The nutritional management of neurological patients is crucial and enteral feeding is a commonly used intervention to provide nutritional support. This review presents the different methods of enteral tube feeding and discusses its practice and efficacy in terms of clinical outcomes in the context of motor neurone disease; Parkinson’s disease; Alzheimer’s disease and other dementias; and stroke

“Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease

Our aim was to explore the attitudes of those living with motor neuron disease towards digital technology. Postal and online questionnaires surveyed 83 people with MND (pwMND) and 54 friends and family members (fMND). Five pwMND and five fMND underwent semi-structured interviews. 82% of pwMND and 87% of fMND use technology every day with iPads and laptops being the devices most commonly used. pwMND used technology to help them continue to participate in everyday activities such as socialising, entertainment and accessing the internet. The internet provided peer support and information about MND but information could be distressing or unreliable. Participants preferred information from professionals and official organisations. Participants were generally supportive of using of technology to access medical care. Barriers to technology, such as lack of digital literacy skills and upper limb dysfunction, and potential solutions were identified. More challenging barriers included language and cognitive difficulties, and the fear of becoming dependent on technology. Addressing the barriers identified in this research could help pwMND access technology. However, as healthcare delivery becomes more reliant on digital technology, care should be taken to ensure that those who are unable or unwilling to use technology continue to have their needs met in alternative ways

Clinical aspects of motor neurone disease

© 2016. Motor neurone disease (MND) is a disabling and ultimately fatal disease of the motor system, with few effective treatments. Considerable heterogeneity is observed in the clinical motor features of MND, with extra-motor manifestations now also recognized as part of the condition. Diagnosis remains clinical, with appropriate investigations to exclude mimics. The multidisciplinary team approach is at the centre of holistic management of patients and families and can improve survival and quality of life. Although the disease remains incurable, survival benefit has been observed with the use of non-invasive ventilation and riluzole. Recent identification of genetic causes of MND, particularly the . C9orf72 hexanucleotide repeat expansion, adds to the expanding knowledge on aetiology and pathogenesis. However, the challenge of elucidating the underlying causes and establishing effective disease-modifying therapies continues through active research. We review MND, focusing on clinical features, diagnosis and management

An objective functional characterisation of head movement impairment in individuals with neck muscle weakness due to Amyotrophic lateral sclerosis

Background: Neck muscle weakness and head drop are well recognised in patients with Amyotrophic lateral sclerosis (ALS), but an objective characterisation of the consequent head movement impairment is lacking. The aim of this study was to quantitatively characterise head movements in ALS compared to aged matched controls. Methods: We evaluated two groups, one of thirteen patients with ALS and one of thirteen age-matched controls, during the execution of a series of controlled head movements, performed while wearing two inertial sensors attached on the forehead and sternum, respectively. We quantified the differences between the two groups from the sensor data using indices of velocity, smoothness and movement coupling (intended as a measure of undesired out of plane movements). Findings: Results confirmed a general limitation in the ability of the ALS patients to perform and control head movements. High inter-patient variability was observed due to a wide range of observed functional impairment levels. The ability to extend the head backward and flex it laterally were the most compromised, with significantly lower angular velocity (P 0.8), reduced smoothness and greater presence of coupled movements with respect to the controls. A significant reduction of angular velocity (P 0.8) in extension, axial rotation and lateral flexion was observed when patients were asked to perform the movements as fast as possible. Interpretation: This pilot study is the first study providing a functional objective quantification of head movements in ALS. Further work involving different body areas and correlation with existing methods of evaluating neuromuscular function, such as dynamometry and EMG, is needed to explore the use of this approach as a marker of disease progression in ALS

The role of cranial and thoracic EMG within diagnostic criteria for ALS.

INTRODUCTION: The contribution of cranial and thoracic region electromyography (EMG) to diagnostic criteria for amyotrophic lateral sclerosis (ALS) has not been evaluated. METHODS: Clinical and EMG data from each craniospinal region were retrospectively assessed in 470 patients; 214 had ALS. Changes to diagnostic classification in Awaji-Shima and revised El Escorial criteria following withdrawal of cranial/thoracic EMG data were ascertained. RESULTS: Sensitivity for lower motor neuron involvement in ALS was highest in cervical/lumbar regions; specificity was highest in cranial/thoracic regions. Cranial EMG contributed to definite/probable Awaji-Shima categorization in 1.4% of patients. Thoracic EMG made no contribution. For revised El Escorial criteria, cranial and thoracic data reclassified 1% and 5% of patients, respectively. CONCLUSION: Cranial EMG data make small contributions to both criteria, thoracic data contribute only to the revised El Escorial criteria. However, cranial and thoracic region abnormalities are specific in ALS. Consideration should be given to allowing greater diagnostic contribution from thoracic EMG

Carcinogenesis in Prostate Cancer: The role of Long Non-Coding RNAs

LncRNAs appear to play a considerable role in tumourigenesis through regulating key processes in cancer cells such as proliferative signalling, replicative immortality, invasion and metastasis, evasion of growth suppressors, induction of angiogenesis and resistance to apoptosis. LncRNAs have been reported to play a role in prostate cancer, particularly in regulating the androgen receptor signalling pathway. In this review article, we summarise the role of 34 lncRNAs in prostate cancer with a particular focus on their role in the androgen receptor signalling pathway and the epithelial to mesenchymal transition pathway

A survey of service needs to embed Genome Sequencing for Motor Neuron Disease in neurology in the English National Health Service.

All people with motor neuron disease (pwMND) in England are eligible for genome sequencing (GS), with panel-based testing. With the advent of genetically targeted MND treatments, and increasing demand for GS, it is important that clinicians have the knowledge and skills to support pwMND in making informed decisions around GS. We undertook an online survey of clinical genomic knowledge and genetic counselling skills in English clinicians who see pwMND. There were 245 respondents to the survey (160 neurology clinicians and 85 genetic clinicians). Neurology clinicians reported multiple, overlapping barriers to offering pwMND GS. Lack of time to discuss GS in clinic and lack of training in genetics were reported. Neurology clinicians scored significantly less well on self-rated genomic knowledge and genetic counselling skills than genetic clinicians. The majority of neurology clinicians reported that they do not have adequate educational or patient information resources to support GS discussions. We identify low levels of genomic knowledge and skills in the neurology workforce. This may impede access to GS and precision medicine for pwMND