Motor Neurone Disease case histories. Pat Ahlquist

Transcription

1 Motor Neurone Disease case histories Pat Ahlquist

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4 Palliative expertise? Understand the condition MDT Working Good symptom control Communication and ACP End of Life Care

5 MND Care Centres: Based in Regional Neuroscience Centres have a dedicated MND clinic have a dedicated single point of contact for people with MND have access to a multi-disciplinary team build up expertise in the management of MND

6 MND Care Centres: have strong links with local community services have strong links with the MNDA spread expertise across the region through education and sharing good practice with other colleagues in the community undertake clinical research

7 Motor Neurone Disease Every person develops the disease in a different way Symptoms experienced depends on the area of nervous system affected 90% - 95% of people have the sporadic form (out of the blue) 5-10% Familial Adult Illness most people are over 50 Average survival 2-5 years from first symptoms. From diagnosis 14 months average. 25% survive 5 years 10% alive at 10 years

8 Who does it affect? Relatively uncommon Annual incidence of 2 in 100,000 Prevalence 5-7 per 100,000 More common in men but over 65 yrs becomes more even GPs can expect to see 1 or 2 cases during their career

9 Risk factors? Genetic (autosomal dominant) Kii peninsular in Japan and Pacific island Guam History of previous musculoskeletal injury Occupations with high electrical exposure or electric shock Smoking (1.4:1) Agricultural chemicals and heavy metals? Age and male sex

10 Turner et al Lancet Neurol 2013; 12:

11 Presentation 85% start with progressive weakness in one limb 15% symptoms start in throat 90% of those who start with limb involvement will eventually develop bulbar symptoms No cure but symptom management and medication that may improve quality or prolong life Onset and progression is variable can progress swiftly

12 1188 cases Kings, London Neurology Mar 24; 72(12):

13 What isn t affected by MND? Senses: touch, taste, sight, smell and hearing Bowel and bladder function Sexual function and sexuality Heart muscles

14 Case 1 87 yr old widow Previous L2 # and R total hip replacement May 2015 Dentures loose Progressive slurring of speech Nasal regurgitation of liquids 28/10/15 2/12/15 Hospital admission

15 Case 1 One stone weight loss, only intelligible to those who know her, saliva pooling, feeling of choking, difficulty swallowing Multiple investigations, incl resp review PEG Episode of hallucinations and confusion with tramadol

16 Case 1 Lives alone, mobile with WZF Drugs at discharge Chlorhexidine 1% oral gel Multivitamin drops Nitrazepam 2.5mg/5ml Omeprazole 20mg dispersible Paracetemol soluble prn Perindopril 4mg od Resource thickener Theophylline 60mg/5ml, 10ml tds Jevity 1.5kcal/1000ml

17 Case Home visit after referral from SaLT 2 boxes of tissues daily Good with paper and ipad Discussed LPA and signed DNACPR Permission for MDT discussion obtained? Choice of drug

18 Case 1, saliva control Amitriptyline 10mg 50mg Glandosane spray Probantheine 15mg tds Glycopyrronium 1mg bd to titrate up to qds

19 Case Neurology clinic, referred to London and resp review Atropine 1% ophthalmic solution Suction unit from MNDA Botulinum to parotid and submandibular glands Finally diagnosed with MND and started riluzole

20 Riluzole Monitor LFTs at baseline and every month for first 3 months, followed by every 3 months long term Reduces damage to motor neurons by decreasing the release of glutamate Prolongs survival by 3-4 months, Cochrane review 2005 Side effects include fatigue, nausea, diarrhoea and liver toxicity

21 Case 2 45 yr old IT consultant month progressive weakness of arms Now tripping, occasional falls, difficulty on stairs Still driving UMN and LMN picture EMGs, MRI spine and brain, CXR, bloods Diagnosis of MND Referred to London for trials, and OT and MNDA leaflet

22 Case Seen in Basildon ALS biomarkers study Respiratory assessment, SNIP, Spirometry (FEV1 120%), normal sleep study On nortriptyline for pain at night

23 Case 2 Jan 14 Feb 14 eye gaze equipment OT referred to Pall Care ACP, DNACPR June 14 Resp funct. FEV1 59% July 14 Report for retirement CPAP for sleep apnoea More restful, using full face mask

24 Symptoms of potential respiratory impairment Breathlessness Orthopnoea Recurrent chest infections Disturbed sleep Non-refreshing sleep Nightmares Poor appetite Daytime sleepiness Poor concentration and/or memory Confusion Hallucinations Morning headaches Fatigue NICE guidelines [ng42] Feb 2016

25 Signs of potential respiratory impairment Increased respiratory rate Shallow breathing Weak cough Weak sniff Abdominal paradox (inward movement of the abdomen during inspiration) Use of accessory muscles of respiration Reduced chest expansion on maximal inspiration NICE guidelines [ng42] Feb 2016

26 Respiratory function tests SNIP or MIP less than 40 cmh2o SNIP or MIP less than 65 cmh2o for men or 55 cmh2o for women plus any symptoms or signs of respiratory impairment, particularly orthopnoea Repeated regular tests show a rate of decrease of SNIP or MIP of more than 10 cmh2o per 3 months NICE guidelines [ng42] Feb 2016

27 Respiratory function tests FVC or VC less than 50% of predicted value FVC or VC less than 80% of predicted value plus any symptoms or signs of respiratory impairment, particularly orthopnoea Discuss the impact of respiratory impairment treatment options possible referral to a specialist respiratory service for further assessment

28 NIV Improves life expectancy Bourke et al Lancet Neurol Feb;5(2): RCT, 22 NIV, 19 standard care Median survival benefit of 205 days (p=0.006) Not if predominantly bulbar, but QOL better Little impact on carer burden Baxter et al J Palliat Med Dec 1; 16(12):

29 QOL benefits even greater than this survival benefit

30 Fig 2 Machine and masks for non-invasive ventilation. McDermott C J, Shaw P J BMJ 2008;336: by British Medical Journal Publishing Group

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32 How do you die with NIV?

33 Case 2 June 15 Hospice at home referral MDT discussions continue March 16 Swallowing difficulties ACP no PEG, yes to hospital May 16 Swallowing unsafe, chest infection Pain in neck BuTrans, Voltarol Spasms in legs -? ACP no to hospital, anticipatory meds

34 Attitude to Advance Care Planning?

35 Triggers for ACP Diagnosis Deterioration Respiratory function, aspiration, weight loss, cognitive decline, recurrent infections. Treatment decisions Respiratory support, Nutritional support, Risk feeding. Patient request Discussion after Hospital admission or Neurology review Cues from patient Influenced by patients support groups / online forums. Slide from Dr S Forrest

36 Slide from Dr S Forrest

37 Barriers to ACP PATIENT: Communication problems, Cognitive impairment, Psychological issues PROFESSIONAL: Knowledge Time Skills FAMILY: Involved/distant Gatekeeping Complex CULTURAL: Family & Professionals, Within Team Slide from Dr S Forrest

38 Case 3 Hospice admission July 15 Diagnosed 2012 Previous day care attendance Gradual change in personality Unsuccessful N Home stay Live in care 200 carers from 8 agencies Wanted to go home again!

39 Cognitive change in MND Increasing awareness Associations first noted 1981, research increasing since 1995 Functional MRI correlates

40 ALS with mild cognitive impairment Variable prevalence in studies, varied definitions Rippon et al (2006) 12.5% probable dementia, 10% possible, 7.5% mildly impaired (memory impairment and deficits in 2+ other domains DSM-IV Murphy et al (2007) 8.7% cognitively abnormal Taylor et al (2013) 31% showed executive domain impairment

41 ALS and language Word finding difficulty Verbs more than nouns Decreased phrase length More impairment on measures of action than object knowledge

42 Emotional processing Emotional lability does not significantly correlate with neuropsychological measures ELQ total scores correlate with state anxiety and emotional fragility

43 Emotional processing Reduced enhancement of recall of emotionallyladen words over neutral words Ratings of emotional pictures by patients more positive than controls Rated calm pictures as more exciting than controls Emotional responses altered towards being more positive and towards a more balanced arousal state, at least early in the disease?

44 Social interaction Face expression recognition/judgement Zimmerman et al 2007, sad, disgusted and surprised all less well recognised Giradi 2011, AlS patients impaired at inferring other s mental state used mind in the eyes test as well as recognising facial emotions Prosody

45 ALS -FTD Overlap in genetic mutation research with FTD research TDP-43 detected in ubiquitinated inclusions in ALS patients and those with ubiquitin-positive, tau-negative and α- synuclein-negative FTD (Neumann et al 2010, Geser et al

46 Criteria for bvftd Rascovsky et al 2011 Principle characteristics Behavioural disinhibition Apathy and inertia Loss of sympathy and empathy for others Perseverative, stereotyped or compulsive/ritualistic behaviour Hyperorality and dietary change Executive deficits with relative sparing of memory and visuospatial skills At least 3 of the above needed

47 Screening ECAS ALS screen NICE guidelines Highlight awareness Explore patient and family concerns Refer for assessment Have regards to capacity Needs research on impact of screening and assessment

48 Would you want to know? Wicks and Frost % told about possible cognitive change, 66% would have wanted to know 46% told about emotional lability, 73% would have wanted to know 73% and 80% of carers wanted to know

49 Published 2016

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51 South Essex walk to D feet MND May 15 th 2016 Search ahlquist on justgiving