Genetic testing in motor neurone disease

A minority (10%–15%) of cases of amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease (MND), are currently attributable to pathological variants in a single identifiable gene. With the emergence of new therapies targeting specific genetic subtypes of ALS, there is an increasing role for routine genetic testing for all those with a definite diagnosis. However, potential harm to both affected individuals and particularly to asymptomatic relatives can arise from the indiscriminate use of genetic screening, not least because of uncertainties around incomplete penetrance and variants of unknown significance. The most common hereditary cause of ALS, an intronic hexanucleotide repeat expansion in C9ORF72, may be associated with frontotemporal dementia independently within the same pedigree. The boundary of what constitutes a possible family history of MND has therefore extended to include dementia and associated psychiatric presentations. Notwithstanding the important role of clinical genetics specialists, all neurologists need a basic understanding of the current place of genetic testing in MND, which holds lessons for other neurological disorders.

Innovation and invention: the role of virtual occupational therapy in the management of motor neurone disease

Background: Motor neurone disease (MND) is a progressive neurological condition with no known cure. Supportive management and symptom control by a multidisciplinary team forms the mainstay of treatment. Caring for patients with MND throughout the COVID-19 required service providers to think of ways to adapt the service in order to meet the acute and constantly changing needs of their service users within pandemic guidelines. Aims: This paper explores innovative changes within the occupational therapy service provision during the pandemic and how it supports the multidisciplinary team (MDT) working. It also evaluates the merits and disadvantages of using virtual technology in specific areas of occupational therapy intervention. Methods: A set of prioritisation criteria was developed to understand the rationale for virtual versus face-to-face input. A reflective process has been used to identify and evaluate innovative service provision in occupational therapy in the management of motor neurone disease. Findings: Virtual consultations were an effective way of providing certain aspects of occupational therapy input. Virtual consultations were found to be less effective during moving and handling assessments, complex environmental adaptations assessment and when managing complex cognitive presentations. During the pandemic there was a rise in referrals for cognitive behavioural management, a specialist area of expertise for occupational therapy in this clinical area. A holistic approach was paramount in meeting the evolving needs of patients across functional domains. Occupational therapy complemented the caring and supportive role of nurses and other members of the MDT in the management of MND. Conclusions: Occupational therapy input can support an MDT by providing valuable assessment of functional decline, specialist equipment, supporting cognitive-behavioural performance, restoring life roles and minimising the challenges imposed by the environment. Using virtual technology discernibly can be an invaluable approach to occupational therapy practice within an MDT setting for managing a progressive neurological condition, such as MND, during a pandemic.

TP6.2.13 A PEG insertion pathway for Motor Neurone Disease patients improves efficiency and patient outcomes

Aims Patients with Motor Neurone Disease (MND) often require a Percutaneous Endoscopic Gastrostomy (PEG) as a palliative procedure during the later stages of their illness, due to swallowing difficulties. More recently these are being inserted earlier before the inevitable decrease in nutritional intake and subsequent fall in albumin levels. This allows patients to eat food they enjoy rather than concentrating on maintaining intake. Insertion has traditionally been done with local anaesthetic and OGD, which can be difficult and traumatic. We propose a method of insertion using TIVA (Totally Intravenous Anaesthetic) in theatre with no intubation, performed by the surgical team, with a pathway including pre-operative anaesthetic assessment. Methods Data was collected from all PEG insertions performed in theatre from 1/1/2011 to 1/9/2019. MND patients following our pathway were compared to all other indications for PEG insertions. Length of stay (LOS), 30-day re-admission rates, 30-day, 90-day and 1-year mortality were analysed. Results 98 patients were identified. Median LOS was 3 days (mean 12.2) with a 3% 30-day mortality, 12.2% 90-day mortality and 34.7% 1-year mortality. In the MND group there were 27 patients. Median LOS was 2 days (mean 8.6) with a 7.4% (2 patients) 30-day mortality, which remained 7.4% at 90 days. There were 13 re-admissions (13.3%) overall compared to 0% in the MND group (p = 0.04 (Chi-squared test)). Conclusions PEG insertion under TIVA for MND patients is safe. A set pathway for admission and pre/post-insertion care increases efficiency with reduced length of stay and improves patient outcomes with no re-admissions.