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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes is a progressive, multisystem mitochondrial disease affecting children and young adults. Patients acquire disability through stroke-like episodes and have an increased mortality. Eighty per cent of cases have the mitochondrial mutation m.3243A>G which is linked to respiratory transport chain dysfunction and oxidative stress in energy demanding organs, particularly muscle and brain. It typically presents with seizures, headaches and acute neurological deficits mimicking stroke. It is an important differential in patients presenting with stroke, seizures, or suspected central nervous system infection or vasculitis. Investigations should exclude other aetiologies and include neuroimaging and cerebrospinal fluid analysis. Mutation analysis can be performed on urine samples. There is no high quality evidence to support the use of any of the agents reported in small studies. This article summarises the core clinical, biochemical, radiological and genetic features and discusses the evidence for a number of potential therapies.

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The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is a brief multi-domain assessment designed for people with Amyotrophic Lateral Sclerosis (ALS). This study evaluated the clinical impact of using the ECAS on ALS patients, carers and healthcare professionals. A secondary aim was to evaluate the clinical impact of neuropsychological intervention. Methods: A survey of current screening practices in ALS services across the UK was undertaken. In addition comparative case studies, in seven ALS care contexts, was qualitatively explored through interviews with patients, carers and healthcare professionals. Results: 22/34 health care services responded to the survey. 95% screen patients for cognitive and behavioural changes and all used the ECAS. Thematic analysis indicated that the ECAS: raises awareness about cognitive and behavioural change between patients, carers and healthcare professionals; validates and/or reassures; identifies changes, aids understanding of the patients' presentation and informs clinical decision-making. The latter includes suitability of interventions, adaptations by the multidisciplinary team, discussions about end-of-life care, referral on to other services, and identifying carers' support needs. A number of indirect economic benefits were described. Clinical neuropsychological intervention was reported to help the multidisciplinary team manage the care particularly of complex cases, the effects on daily life, and stress of patients, carers and families. Conclusions: The ECAS has been widely implemented across ALS health care teams in the UK. Screening for cognitive/behavioural deficits and neuropsychological intervention has a positive impact on patients, carers and healthcare professionals and improves the quality of routine clinical care.

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Since the findings of a Fatal Accident Inquiry (FAI) in 2010, clinicians working in Scotland have been advised to discuss the risk of Sudden Unexpected Death in Epilepsy (SUDEP) with patients immediately or soon after a diagnosis of epilepsy is made. A thematic analysis was used to describe the experiences discussing SUDEP of 10 clinicians (six Consultant Neurologists and four Neurology Registrars) working in Scotland. Contrary to previous research, clinicians appear to be routinely discussing SUDEP in a standardized fashion with newly diagnosed patients and the FAI appears to have instigated this change in practice. Clinicians are ambivalent about the practice and whether this is a Breaking Bad News (BBN) experience. Clinicians appear to anticipate that patients will be anxious or distressed discussing SUDEP, despite their experiences that patients do not react this way. There are further concerns that the pressure to discuss SUDEP, as a result of the FAI, hinders effective communication of the SUDEP message. Implications for guideline development are discussed.

Background Caregivers and family members of Intensive Care Unit (ICU) survivors can face emotional problems following patient discharge from hospital. We aimed to evaluate the impact of a multi-centre integrated health and social care intervention, on caregiver and family member outcomes. Methods This study evaluated the impact of the Intensive Care Syndrome: Promoting Independence and Return to Employment (InS:PIRE) programme across 9 sites in Scotland. InS:PIRE is an integrated health and social care intervention. We compared caregivers who attended this programme with a contemporary control group of ICU caregivers (usual care cohort), who did not attend. Results The primary outcome was anxiety measured via the Hospital Anxiety and Depression Scale at 12 months post-hospital discharge. Secondary outcome measures included depression, carer strain and clinical insomnia. A total of 170 caregivers had data available at 12 months for inclusion in this study; 81 caregivers attended the InS:PIRE intervention and completed outcome measures at 12 months post-hospital discharge. In the usual care cohort of caregivers, 89 completed measures. The two cohorts had similar baseline demographics. After adjustment, those caregivers who attended InS:PIRE demonstrated a significant improvement in symptoms of anxiety (OR: 0.42, 95% CI: 0.20–0.89, p = 0.02), carer strain (OR: 0.39; 95% CI: 0.16–0.98 p = 0.04) and clinical insomnia (OR: 0.40; 95% CI: 0.17–0.77 p < 0.001). There was no significant difference in symptoms of depression at 12 months. Conclusions This multicentre evaluation has shown that caregivers who attended an integrated health and social care intervention reported improved emotional health and less symptoms of insomnia, 12 months after the delivery of the intervention.