Specialist referrals and diagnostic delays in motor neurone disease: mapping patients' journey through Hoops and Hurdles in healthcare.

Motor neuron disease (MND) is an uncommon but invariably fatal condition, with a median survival of 24-48 months from symptom onset. Although there is no cure at the moment, early diagnosis is crucial to enable timely access to multidisciplinary care, and enrolment in clinical trials utilising investigational therapies. Unfortunately, diagnostic delays remain common, and the average delay between symptom onset and diagnosis is 12-months. Large numbers of specialist referrals have been suggested as a key contributor to diagnostic delays. We conducted a retrospective review of the medical records of patients diagnosed with MND in Lancashire and South Cumbria, to investigate whether large numbers of specialty referrals are a common occurrence in MND. Our review identified that 35% of patients with MND were seen by two or more specialties before being referred to neurology. This rose to 49% when patients with bulbar onset disease were considered. 9% of cases saw three or more specialists. There was a statistically significant correlation between the number of specialist referrals and delays in neurology referral. We hope our findings will increase awareness of the importance of early diagnosis of MND and promote the use of the MND Red Flag tool as a means of identifying patients in need of prompt neurological referral.

Prevalence, treatment and correlates of depression in multiple sclerosis.

BACKGROUND: The prevalence of depression in Multiple Sclerosis (MS) is often assessed by administering patient reported outcome measures (PROMs) examining depressive symptomatology to population cohorts; a recent review summarised 12 such studies, eight of which used the Hospital Anxiety and Depression Scale-Depression (HADS-D). In clinical practice, depression is diagnosed by an individual structured clinical interview; diagnosis often leads to treatment options including antidepressant medication. It follows that an MS population will include those whose current depressive symptoms meet threshold for depression diagnosis, plus those who previously met diagnostic criteria for depression and have been treated such that depressive symptoms have improved below that threshold. We examined a large MS population to establish a multi-attribute estimate of depression, taking into account probable depression on HADS-D, as well as anti-depressant medication use and co-morbidity data reporting current treatment for depression. We then studied associations with demographic and health status measures and the trajectories of depressive symptoms over time. METHODS: Participants were recruited into the UK-wide Trajectories of Outcome in Neurological Conditions-MS (TONiC-MS) study, with demographic and disease data from clinical records, PROMs collected at intervals of at least 9 months, as well as co-morbidities and medication. Interval level conversions of PROM data followed Rasch analysis. Logistic regression examined associations of demographic characteristics and symptoms with depression. Finally, a group-based trajectory model was applied to those with depression. RESULTS: Baseline data in 5633 participants showed the prevalence of depression to be 25.3 % (CI: 24.2-26.5). There were significant differences in prevalence by MS subtype: relapsing 23.2 % (CI: 21.8- 24.5), primary progressive 25.8 % (CI: 22.5-29.3), secondary progressive 31.5 % (CI: 29.0-34.0); disability: EDSS 0-4 19.2 % (CI: 17.8-20.6), EDSS ≥4.5 31.9 % (CI: 30.2-33.6); and age: 42-57 years 27.7 % (CI: 26.0-29.3), above or below this range 23.1 % (CI: 21.6-24.7). Fatigue, disability, self-efficacy and self esteem correlated with depression with a large effect size (>0.8) whereas sleep, spasticity pain, vision and bladder had an effect size >0.5. The logistic regression model (N = 4938) correctly classified 80 % with 93 % specificity: risk of depression was increased with disability, fatigue, anxiety, more comorbidities or current smoking. Higher self-efficacy or self esteem and marriage reduced depression. Trajectory analysis of depressive symptoms over 40 months in those with depression (N = 1096) showed three groups: 19.1 % with low symptoms, 49.2 % with greater symptoms between the threshold of possible and probable depression, and 31.7 % with high depressive symptoms. 29.9 % (CI: 27.6-32.3) of depressed subjects were untreated, conversely of those treated, 26.1 % still had a symptom level consistent with a probable case (CI: 23.5-28.9). CONCLUSION: A multi-attribute estimate of depression in MS is essential because using only screening questionnaires, diagnoses or antidepressant medication all under-estimate the true prevalence. Depression affects 25.3 % of those with MS, almost half of those with depression were either untreated or still had symptoms indicating probable depression despite treatment. Services for depression in MS must be pro-active and flexible, recognising the heterogeneity of outcomes and reaching out to those with ongoing symptoms.

E-learning in neurology education: Principles, opportunities and challenges in combating neurophobia.

Neurophobia, the fear of clinical neurology, affects not only medical students but also non-career neurologists globally. This can have significant implications on patient care, especially given the increasing burden of chronic neurological disorders. The negative perception and lack of confidence amongst general practitioners and hospital physicians may lead to increased referrals to neurology, thereby increasing waiting times and inpatient stay. The onus, therefore, should be on improving training and stimulating interest in neurology. There is emerging evidence that integrating e-learning to traditional pedagogies can improve delivery of neurology education and help combat neurophobia. However, embracing e-learning may be challenging for contemporary neurologists, mostly 'digital immigrants', involved in the training of tomorrow's doctors who are largely 'digital natives'. This paper reviews the principles, opportunities and challenges of incorporating e-learning in neurology education to help improve learners' perception of clinical neurology, facilitate delivery of self-directed experiential learning and perhaps breed 'neurophilia'.

Motor neurone disease in Lancashire and South Cumbria in North West England and an 8 year experience with enteral nutrition.

Motor neurone disease (MND) is a fatal neurodegenerative disease of unknown aetiology. Malnutrition is a common occurrence and an independent risk factor for worse prognosis. However, it remains unclear whether provision of enteral nutrition (EN) through a gastrostomy tube offers any survival advantage. Our aim was to describe the demographic and clinical characteristics of MND in Lancashire and South Cumbria in North West England and the impact of EN on survival in the 8 year period of 2005-2012. Four hundred and seven patients with MND were identified through the Preston MND care and research centre registry giving a crude incidence rate of 3.15/100,000. Three hundred and forty patients with adequate information were included in the final analysis of whom 53.2% were male. The presentation was limb/spinal in 62.1% and bulbar in 37.9% of patients, bulbar onset being more common in elderly females. Mean age of onset was 67.28 years (standard deviation 11.06; range 22.78-93.06). Median survival was 1.98 years (range 1.18-3.05). Ninety-one patients received EN of whom 67% had bulbar onset disease. EN was not associated with a statistically significant survival advantage except for the subgroup who received EN more than 500 days after symptom onset. In conclusion, the early requirement for EN may indicate a prognostically less favourable subgroup.

Seizure-induced MRI changes mimicking metastatic brain disease.

Non-convulsive status epilepticus (NCSE) can present with heterogeneous clinical manifestations including prolonged confusion. MRI of the brain may demonstrate enhancing signal abnormalities that can mimic various pathologies including disease progression in patients with brain tumour. These neuroimaging changes are usually reversible and have been attributed to a combination of cytotoxic and vasogenic oedema. We report an interesting patient with a past history of prostatic rhabdomyosarcoma and brain metastasis presenting with NCSE where brain MRI demonstrated marked left hemispheric signal abnormalities, raising concerns about tumour recurrence. However the neuroimaging changes resolved following treatment with intravenous anticonvulsants, confirming that they were an effect rather than the cause of seizures. Recognition of seizure-related imaging abnormalities is important to institute prompt appropriate treatment, and to avoid diagnostic ambiguity and unnecessary treatment and/or investigations.

An unusual presentation of diabetic amyotrophy: myoclonus.

Diabetic amyotrophy is a distinctive form of diabetic neuropathy. It is characterised by a weakness and wasting of proximal muscles of the lower limbs with associated pain. We report a case of an elderly patient with unusual presentation of diabetic amyotrophy. He presented with myoclonic jerks and recurrent falls. Examination findings and electrophysiological studies were consistent with a diagnosis of diabetic amyotrophy. He responded well to steroids with marked improvement in strength of the lower limb muscles and complete resolution of myoclonic jerks. Diabetic amyotrophy presenting as myoclonic jerks has been rarely reported before.