Occupational Therapy and Neurological Conditions E-Book

Jenny Preston

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 433

Veröffentlichungsjahr: 2016

Beschreibung

While diagnosis with a neurological condition may not be life-threatening, it can have significant impact on everyday life and on participation in activities. Occupational therapists must be able to fully consider the physical, cognitive, emotional, psychological and behavioural problems which may occur as a consequence of a neurological disorder, and understand the impact of diagnosis from a person-centred perspective. Occupational Therapy and Neurological Conditions incorporates theoretical, clinical and research evidence to support occupational therapists in the management of people with neurological conditions.

• Covers the key symptoms of neurological conditions and the biological basis of these within the ICF framework
• Provides an overview of therapy and management for all neurological conditions
• Includes key occupational therapy theory
• Case studies root concepts in real-life practice
• End-of-chapter self-evaluation questions help test understanding

Occupational Therapy and Neurological Conditions is the ideal resource to support students, newly-qualified practitioners, and occupational therapists looking for an overview or introduction to this key area of practice.

Leseprobe

Table of Contents

Cover

Title Page

List of figures and tables

List of contributors

Academic foreword

Service user foreword

Preface

Acknowledgements

CHAPTER 1: Introduction

1.1 Economic impact of long-term neurological conditions

1.2 Definition of long-term neurological conditions

1.3 International Classification of Functioning, Disability and Health

1.4 Huntington’s disease

1.5 Motor neurone disease

1.6 Multiple sclerosis

1.7 Parkinson’s

1.8 Self-evaluation questions

References

CHAPTER 2: Delivering good quality, safe and effective care

2.1 Introduction

2.2 The strategic context

2.3 Evidence-based practice

2.4 Clinical guidelines

2.5 Practice guidance

2.6 Client expertise in evidence-based practice

2.7 Quality improvement

2.8 Health economic evaluation

2.9 Professional standards of practice

2.10 CPD and lifelong learning

2.11 Self-evaluation questions

References

CHAPTER 3: Person-centredness and long-term neurological conditions

3.1 Introduction

3.2 Person-centredness

3.3 Client-centred practice

3.4 Self-management

3.5 Co-production

3.6 Evaluating your practice

3.7 Self-evaluation questions

References

CHAPTER 4: Theoretical basis

4.1 Introduction

4.2 Definitions of occupational therapy

4.3 Central philosophy of occupational therapy

4.4 Core professional reasoning skills

4.5 Conceptual models of occupational therapy practice

4.6 Frames of reference

4.7 Context-dependent practice skills

4.8 Self-evaluation questions

References

CHAPTER 5: Occupation and long-term neurological conditions

5.1 Introduction

5.2 Defining occupation

5.3 Occupational patterns

5.4 Doing, being, becoming and belonging

5.5 Occupational dysfunction

5.6 Occupational adaptation

5.7 Defining occupational goals

5.8 Self-evaluation questions

References

CHAPTER 6: Identifying occupational performance enablers and deficits

6.1 Introduction

6.2 What is measurement?

6.3 What are occupational therapy outcomes?

6.4 Selecting the right measure

6.5 Commonly used measures in neurological rehabilitation

6.6 Disease-specific measures

6.7 Self-evaluation questions

References

CHAPTER 7: Occupational therapy intervention

7.1 Introduction

7.2 Activities of daily living

7.3 Fatigue management

7.4 Cognitive rehabilitation

7.5 Anxiety management

7.6 Falls management

7.7 Pain management

7.8 Managing tremor

7.9 Sleep

7.10 Sexual relationships and intimacy

7.11 Self evaluation questions

References

CHAPTER 8: Using technology to support participation

8.1 Introduction

8.2 Environmental characteristics and occupational performance

8.3 Environmental adaptations

8.4 Assistive technology

8.5 Assistive devices

8.6 Housing adaptations

8.7 Seating and postural management

8.8 Management of posture and positioning in sitting

8.9 Management of posture and positioning in lying

8.10 Splinting

8.11 Electronic assistive technology

8.12 Self-evaluation questions

References

CHAPTER 9: Living with a long-term neurological condition

9.1 Introduction

9.2 Transitions theory

9.3 Illness experiences

9.4 Rehabilitation and recovery

9.5 Lifespan transitions

9.6 Social and cultural transitions

9.7 Caregiving

9.8 Psychosocial adjustment

9.9 Self-evaluation questions

References

CHAPTER 10: Planning for the future

10.1 Introduction

10.2 Disease progression

10.3 The nature of occupation in death and dying

10.4 Facilitation of meaning, quality of life and well-being

10.5 Spirituality

10.6 Therapeutic use of self

10.7 Advance care planning

10.8 Conclusion

10.9 Self-evaluation questions

References

Index

End User License Agreement

List of Tables

Chapter 02

Table 2.1 Examples of neurological clinical questions and recommended levels of evidence.

Table 2.2 Key clinical guidelines for the management of long-term neurological conditions.

Chapter 03

Table 3.1 The Canadian Practice Process Framework.

Chapter 04

Table 4.1 Practical example of COPM applied to neurological practice.

Table 4.2 Practical application of PEOP person factors to neurological practice.

Table 4.3 Practical application of PEOP performance enablers and components to neurological practice.

Table 4.4 Core values for neurological practice.

Chapter 05

Table 5.1 Examples of occupational dysfunction applied to the ICF levels of disability.

Chapter 06

Table 6.1 How to use measures in a meaningful way? Key questions and red flags.

Table 6.2 Occupational therapy-specific outcome measures.

Table 6.3 Commonly used activities of daily living indices.

Table 6.4 Functional Independence Measure and Functional Assessment Measure.

Table 6.5 Physical impairment measures.

Table 6.6 Cognitive impairment measures.

Table 6.7 Commonly used quality of life measures.

Table 6.8 Key measures for Huntington’s disease.

Table 6.9 Key measures for motor neurone disease.

Table 6.10 Key measures for multiple sclerosis.

Table 6.11 Key measures for Parkinson’s.

Chapter 07

Table 7.1 Types of sexual dysfunction and potential solutions.

Chapter 08

Table 8.1 Minor adaptations included in the guide.

List of Illustrations

Chapter 01

Figure 1.1 Model of disability that is the basis for ICF.

Figure 1.2 Comparison of healthy and motor neurone affected by MND.

Figure 1.3 Healthy nerve cell and demyelination in MS.

Chapter 02

Figure 2.1 Evidence-based practice applied to occupational therapy.

Figure 2.2 Model for improvement.

Chapter 04

Figure 4.1 The relationship between occupational therapy knowledge and core skills.

Figure 4.2 The Model of Human Occupation (MOHO).

Figure 4.3 Illustration of MOHO applied to neurological practice.

Figure 4.4 The Canadian Model of Occupational Performance and Enablement (CMOP-E).

Figure 4.5 The Person-Environment-Occupation Performance (PEOP) model.

Figure 4.6 The Kawa (River) model; (a) The river; (b) Elements of the river; (c) Elements constricting water flow.

Chapter 06

Figure 6.1 Understanding the three factors involved in measuring in clinical practice.

Figure 6.2 Meaningful measurement in occupational therapy practice.

Figure 6.3 Client-centred decision-making: selecting the right measure at the right time.

Chapter 07

Figure 7.1 Hand-over-hand technique.

Figure 7.2 Distal stabilisation technique.

Chapter 08

Figure 8.1 Hierarchy of normal postural ability.

Figure 8.2 A step-by-step guide to building a stable seated posture.

Figure 8.3 Profiling bed.

Figure 8.4 Illustration of an environmental control system.

Guide

Cover

Table of Contents

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Occupational therapy and neurological conditions

EDITED BY

Jenny Preston

Judi Edmans

on behalf of the College of Occupational Therapists Specialist Section – Neurological Practice

This edition first published 2016 © 2016 by John Wiley & Sons, Ltd

Registered OfficeJohn Wiley & Sons, Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK

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All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher.

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The contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended and should not be relied upon as recommending or promoting a specific method, diagnosis, or treatment by health science practitioners for any particular patient. The publisher and the author make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of fitness for a particular purpose. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. Readers should consult with a specialist where appropriate. The fact that an organization or Website is referred to in this work as a citation and/or a potential source of further information does not mean that the author or the publisher endorses the information the organization or Website may provide or recommendations it may make. Further, readers should be aware that Internet Websites listed in this work may have changed or disappeared between when this work was written and when it is read. No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom.

Library of Congress Cataloging-in-Publication Data

Names: Edmans, Judi, editor. | Preston, Jenny, 1963– , editor. | College of Occupational Therapists. Specialist Section Neurological Practice, issuing body.Title: Occupational therapy and neurological conditions / edited by Judi Edmans, Jenny Preston on behalf of the College of Occupational Therapists Specialist Section Neurological Practice.Description: Chichester, West Sussex ; Hoboken, NJ : John Wiley & Sons, Inc, 2016. | “This book has been produced by members of the UK College of Occupational Therapists Specialist Section Neurological Practice working with people with long term conditions and has been developed to accompany the ‘Occupational therapy and stroke’ book.” –Preface. | Includes bibliographical references and index.

Identifiers: LCCN 2015047747 (print) | LCCN 2015048300 (ebook) | ISBN 9781118936115 (pbk.) | ISBN 9781118936122 (pdf) | ISBN 9781118936139 (epub)Subjects: | MESH: Nervous System Diseases–therapy | Occupational Therapy–methods | Case ReportsClassification: LCC RM735 (print) | LCC RM735 (ebook) | NLM WL 140 | DDC 615.8/515–dc23LC record available at http://lccn.loc.gov/2015047747

A catalogue record for this book is available from the British Library.

Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books.

Cover image: [Production Editor to insert]

List of figures and tables

Figures

Figure 1.1

Model of disability that is the basis for ICF

Figure 1.2

Comparison of healthy and motor neurone affected by MND

Figure 1.3

Healthy nerve cell and demyelination in MS

Figure 2.1

Evidence-based practice applied to occupational therapy

Figure 2.2

Model for improvement

Figure 4.1

The relationship between occupational therapy knowledge and core skills

Figure 4.2

The Model of Human Occupation (MOHO)

Figure 4.3

Illustration of MOHO applied to neurological practice

Figure 4.4

The Canadian Model of Occupational Performance and Enablement (CMOP-E)

Figure 4.5

The Person-Environment-Occupation Performance (PEOP) model

Figure 4.6

The Kawa (River) model; (a) The river; (b) Elements of the river; (c) Elements constricting water flow.

Figure 6.1

Understanding the three factors involved in measuring in clinical practice

Figure 6.2

Meaningful measurement in occupational therapy practice

Figure 6.3

Client-centred decision-making: selecting the right measure at the right time

Figure 7.1

Hand-over-hand technique

Figure 7.2

Distal stabilisation technique

Figure 8.1

Hierarchy of normal postural ability

Figure 8.2

A step-by-step guide to building a stable seated posture

Figure 8.3

Profiling bed

Figure 8.4

Illustration of an environmental control system

Tables

Table 2.1

Examples of neurological clinical questions and recommended levels of evidence

Table 2.2

Key clinical guidelines for the management of long-term neurological conditions

Table 3.1

The Canadian Practice Process Framework

Table 4.1

Practical example of COPM applied to neurological practice

Table 4.2

Practical application of PEOP personal factors to neurological practice

Table 4.3

Practical application of PEOP performance enablers and components to neurological practice

Table 4.4

Core values for neurological practice

Table 5.1

Examples of occupational dysfunction applied to the ICF levels of disability

Table 6.1

How to use measures in a meaningful way? Key questions and red flags

Table 6.2

Occupational therapy-specific outcome measures

Table 6.3

Commonly used activities of daily living indices

Table 6.4

Functional Independence Measure and Functional Assessment Measure

Table 6.5

Physical impairment measures

Table 6.6

Cognitive impairment measures

Table 6.7

Commonly used quality of life measures

Table 6.8

Key measures for Huntington’s disease

Table 6.9

Key measures for motor neurone disease

Table 6.10

Key measures for multiple sclerosis

Table 6.11

Key measures for Parkinson’s

Table 7.1

Types of sexual dysfunction and potential solutions

Table 8.1

Minor adaptations included in the guide

List of contributors

Ana Aragon Independent Occupational Therapist, Bath

Catherine Atkinson Royal Free Neurological Rehabilitation Centre, London

Jill Cooper Royal Marsden Hospital, London

Jane Duffy Formerly East Ayrshire Council, now a service user

Judi Edmans Division of Rehabilitation and Ageing, University of Nottingham, Nottingham

Jo Hurford National Hospital for Neurology and Neurosurgery, London

Fiona Kelly Royal Free Neurological Rehabilitation Centre, London

Jill Kings Neural Pathways, Gateshead, Tyne and Wear

Nicky McNair Regional Environmental Control Service, North East London Community Services, North East London

Freya Powell Royal Free Neurological Rehabilitation Centre, London

Jenny Preston Douglas Grant Rehabilitation Centre, Ayrshire Central Hospital, Irvine

Alison Wiesner Hertfordshire Neurological Service, Abbotts Langley, Hertfordshire

Academic foreword

Occupational Therapists working with people with neurological conditions will be delighted to learn of the publication of this book. The text has been written by members of the Specialist Section Neurological Practice (UK College of Occupational Therapists) who bring a wealth of knowledge, enthusiasm and clinical expertise to the topic.

Essentially this is a practical guide which provides an excellent reference manual for both those starting out in neurology and for established practitioners. For particular note is the use of case studies which illustrate facts in a way that factual text could not; the account by Jane Duffy of living with HD is particularly moving.

First and foremost this textbook underlines the unique role of occupational therapy in the treatment and care of people with a neurological condition. It incorporates theoretical, clinical and research perspectives to address the impact of neurological conditions from a person-centred viewpoint. The reader should develop an understanding of the impact of managing complex conditions in everyday life.

There are unique skills and contributions occupational therapists can make to improve quality of life in those with neurological conditions. This is an excellent book and I encourage occupational therapists to engage with it and dip into it regularly.

Professor Avril DrummondOccupational Therapist and Professor of Healthcare ResearchUniversity of NottinghamNottingham

Service user foreword

It is a pleasure to be asked to write a ‘patients view’ of this new book regarding the usefulness of input from an occupational therapist with people with a long-term neurological condition. Living with such a condition can lead to many challenges in all aspects of everyday life, social, work and psychological.

This book is focused on assessments of each person as an individual rather than advising the exact same approach and interventions for all patients with a diagnosis; this patient centered approach is one I find reassuring. The emphasis on involving the person in every aspect of decision-making is something that a lot of patients will truly appreciate. To be involved in care decisions is the first step to empowerment for a person suffering from a long-term condition.

Whilst being a book focused on practical work, it pays attention to the importance of evidence-based practice, and the impact the decisions made by the therapist will have on the life of the patient. This offers reassurance to the patient that the interventions will be safe, effective and proved to have worked elsewhere.

As a layperson reading this it offers some enlightenment to the true meaning of occupation and the multiple facets of this rather than it just being simply about remaining at work through an illness. The interventions a therapist can use in all areas of a patient’s life become more valuable as each patient’s needs are different. I hope new and experienced therapists alike will find this book helpful in their ongoing learning and development as professionals and therefore more patients will benefit from the subsequent input from the therapists.

Tony WildeService UserNottingham

Preface

This book has been produced by members of the UK College of Occupational Therapists Specialist Section – Neurological Practice working with people with long-term conditions and has been developed to accompany the book titled Occupational Therapy and Stroke.

The book is intended for use by newly qualified occupational therapists and those new to the field of the management of people with long-term neurological conditions. It acknowledges ‘occupation’ as the foundation of occupational therapy, explaining how this combined with our core skills facilitates an understanding of the complexities of occupational therapy clinical practice with people with long-term neurological conditions.

We have tried to offer a guide from theory to clinical practice basing this around the four most common long-term neurological conditions: Huntington’s disease (HD), motor neurone disease (MND), multiple sclerosis (MS) and Parkinson’s. We hope that by providing guidance and explanations, new graduates will feel confident in the management of people with long-term neurological conditions.

Throughout the book we have included client quotes and case studies to provide real-life presentations to put the theory into context.

For ease of terminology throughout this book, the ‘client/patient’ is referred to as ‘the client’ where it is in reference to our own work, irrespective of whether he/she is being treated in the hospital or community. However, the term ‘patient’ is left unchanged where it is in reference to a national project/referenced document, etc. Similarly, we have used the term ‘Parkinson’s’ throughout this book, as this is currently the correct term for the condition previously known as ‘Parkinson’s disease’.

In the future, as new ideas are developed, this text should be viewed in the light of developing practice.

Dr Judi EdmansCo-Editor

Acknowledgements

We would like to give particular thanks to Dr Avril Drummond for providing Academic Foreword; Tony Wilde for providing Service User Foreword; all the contributors for their contributions; all those providing permission for the inclusion of photographs, figures and tables; the College of Occupational Therapists Specialist Section – Neurological Practice for funding to enable us to prepare this book; and last but not least our long-suffering husbands and families for their endless support and patience during the time taken to prepare this book.

Dr Jenny Preston and Dr Judi EdmansCo-Editors

CHAPTER 1Introduction

1.1 Economic impact of long-term neurological conditions

It is estimated that 10 million people in the United Kingdom live with some form of neurological condition that impacts on their everyday lives (Department of Health [DoH], 2005). Neurological conditions account for one in five emergency hospital admissions, one in eight general practice consultations and a high proportion of severe and progressive disability in the population (Association of British Neurologists, 2003). As many as 350 000 people in the United Kingdom need help with activities of daily living because of a neurological condition and 850 000 people care for someone with a neurological condition (DoH, 2005). Due to their devastating impact and their generally progressive nature, neurological conditions are considered as long-term affecting individuals throughout their life span.

Occupational therapy is defined as ‘a client-centred health profession concerned with promoting health and well-being through occupation enabling people to participate in everyday life’ (World Federation of Occupational Therapists, 2011). Occupational therapy practice focuses on enabling individuals to modify and adapt elements of their roles, occupations or environments to support occupational participation in response to changes within their lives. Occupational therapists have a key role to play in supporting people living with a long-term neurological condition to manage a life of unpredictability and uncertainty. This requires a complex combination of knowledge and skills to address the physical, psychological, cognitive and emotional needs of people together with a broad range of assessments and interventions.

1.2 Definition of long-term neurological conditions

The DoH (2005) describes ‘long-term neurological conditions’ as

a range of conditions affecting the brain or spinal cord which occur through a variety of mechanisms which include the following:

Sudden onset conditions (e.g. acquired brain injury of any cause, stroke and spinal cord injury)

Intermittent conditions (e.g. epilepsy)

Progressive conditions (e.g. multiple sclerosis (MS), motor neurone disease (MND), Parkinson’s and other degenerative disorders)

Stable conditions with/without age-related degeneration (e.g. polio or cerebral palsy).

This book specifically focuses on the following progressive neurological conditions:

Huntington’s disease (HD)

Motor neurone disease (MND)

Multiple sclerosis (MS)

Parkinson’s.

Whilst there is an abundance of literature relating to each of these medical conditions the primary aim of this book is to place this knowledge and understanding within the context of occupational therapy practice. In order to fully understand the holistic needs of their clients occupational therapists are required to develop knowledge of the underlying pathology of each of these neurological conditions. However this understanding from a medical perspective should not be assumed to represent a medical model of care with an emphasis on symptomatic management. Throughout this book the focus is on delivering person-centred models of practice which support the complexity of the needs of people with neurological conditions from an occupational perspective.

1.3 International Classification of Functioning, Disability and Health

The International Classification of Functioning, Disability and Health (ICF) offers a conceptual basis for the definition and measurement of health and disability (World Health Organisation [WHO], 2002). Developed within a biopsychosocial model, ICF views disability and functioning as outcomes of interactions between health conditions (diseases, disorders and injuries) and contextual factors, as shown in Figure 1.1. Amongst contextual factors are external environmental factors (e.g., social attitudes, architectural characteristics, legal and social structures) and internal factors which include gender, age, coping styles, social background, past and current experience, character and other factors that influence how disability is experienced by the individual (WHO, 2002).

Figure 1.1 Model of disability that is the basis for ICF.

(Source: WHO, 2002, p. 9. Reproduced with permission of World Health Organisation.)

Within this framework ICF defines three levels of human functioning: functioning at the level of body or body part (impairment), the whole person (activity limitations) and the whole person in a social context (participation restrictions). The formal definitions of these components of ICF are provided in Box 1.1 (WHO, 2002).

Box 1.1 Formal definitions of the components of ICF.

Body functions are physiological functions of body systems (including psychological functions).

Body structures are anatomical parts of the body such as organs, limbs and their components.

Impairments are problems in body function or structure such as significant deviation or loss.

Activity is the execution of a task or action by an individual.

Participation is involvement in a life situation.

Activity limitations are difficulties an individual may experience in involvement in life situations.

Participation restrictions are problems an individual may experience in involvement in life situations.

Environmental factors make up the physical, social and attitudinal environment in which people live and conduct their lives.

Source: WHO (2002, p. 10). Reproduced with permission of World Health Organisation.

The remainder of this chapter presents each of the four neurological conditions in relation to body functions, body structures and impairments, highlighting the differences and similarities of each condition. Subsequent chapters explore the wider implications for activity and participation.

1.4 Huntington’s disease

HD is a rare disease, affecting an estimated 7–10 people per 100 000 or somewhere in the region of between 4200 and 6000 people in the United Kingdom (Quarrell, 2008). The onset of the disease is insidious and the age of onset depends on a number of different factors. Most people develop the condition between the ages of 30 and 50 years, but the disease can appear in all age groups (Nance et al., 2013). The HD gene is dominant, which means that each child of a parent with HD has a 50% chance of inheriting the disease and is said to be ‘at-risk’. Males and females have the same risk of inheriting the disease. HD occurs in all races (Nance et al., 2013).

There is currently no cure or treatment which can halt, slow or reverse the progression of the disease (Nance et al., 2013) and people with HD tend to die, on average, between 15 and 16 years after the onset of symptoms (Quarrell, 2008). People don’t die from HD itself, but they die from complications such as choking, heart failure, and infection or aspiration pneumonia (Nance et al., 2013).

1.4.1 Body functions

HD is a hereditary neurodegenerative genetic disorder caused by an expansion of a repeating CAG triplet series in the huntingtin gene on chromosome 4, which results in a protein with an abnormally long polyglutamine sequence (Nance et al., 2013).

1.4.2 Body structures

HD causes cells in the brain to die, specifically the caudate and the putamen and, as the disease progresses, the cerebral cortex. These organic changes lead to cognitive, motor and psychiatric changes that have a devastating impact on the individual. As the brain cells die, a person with HD becomes less able to control their movements, recall events, make decisions and control their emotions (Nance et al., 2013).

1.4.3 Stages of HD

Early stage

Symptoms may include minor involuntary movements, subtle loss of coordination, difficulty thinking through complex problems, depression, irritability, or disinhibition (Nance et al., 2013). Early symptoms of the disease often include subtle cognitive changes including the following:

Difficulty organising routine matters or coping effectively with new situations

Difficulty recalling information may make them appear forgetful

Work activities may become more time-consuming

Decision-making and attention to details may be impaired

Irritability

Slight physical changes may also develop at this stage. There can be involuntary movements which may initially consist of ‘nervous’ activity, fidgeting, a twitching of the hands or feet, or excessive restlessness. Individuals may also notice a little awkwardness, changes in handwriting or difficulty with daily tasks such as driving (Nance et al., 2013).

Middle stage

Chorea may be prominent, and people with HD have increasing difficulty with voluntary motor tasks. There may be issues with swallowing, balance, falls and weight loss. Problem solving becomes more difficult due to difficulties sequencing, organising or prioritising information (Nance et al., 2013).

The initial physical symptoms will gradually develop into more obvious involuntary movements such as jerking and twitching of the head, neck and arms and legs. These movements may interfere with walking, speaking and swallowing. People at this stage of HD often stagger when they walk and their speech may become slurred. They may have increasing difficulty working or managing a household, but they can still deal with most activities of daily living (Nance et al., 2013).

Late stage

Chorea may be severe, or be replaced by rigidity, dystonia and bradykinesia. Although they are unable to speak in the end stages, it is important to note that people with HD retain a level of comprehension (Nance et al., 2013). People in these stages of HD can no longer manage the activities of daily living and usually require professional nursing care. Difficulties with swallowing and weight loss are common (Nance et al., 2013).

1.4.4 Impairments

Chorea

More than 90% of people with HD have chorea. It is characterised by ‘involuntary movements which are often sudden, irregular and purposeless or semi-purposeful. The movements are often more prominent in the extremities early in the disease, but progress to include facial grimacing, eyelid elevation, neck, shoulder, trunk, and leg movements as the disease progresses’ (Nance et al., 2013).

Dystonia

Characterised by ‘a repetitive, abnormal pattern of muscle contraction which is frequently associated with a twisting quality’ (Nance et al., 2013).

Bradykinesia

‘Slowness of movement can include loss of facial expressivity, absence of arm swing, rapid alternating movements and gait slowness’ (Nance et al., 2013).

Tics

‘are sudden brief, intermittent movements, gestures or vocalisations which can occur with HD. Respiratory and vocal tics can produce sniffs, grunts, moans or coughs’ (Nance et al., 2013).

Loss of motor control

Progressive loss of voluntary motor control

Clumsy, awkward movement

Akinetic

Rigidity

Hyper reflexia

Extensor plantar reflexes (Nance et al., 2013)

Gait impairment and falls

Slower wide-based gait

Trunk dystonia

Chorea

Displaced centre of gravity (Nance et al., 2013)

Communication and swallowing

Dysarthria

Changes in speech rhythm

Voice changes, that is soft spoken or explosive

Complete loss of speech often occurs

Difficulties with speech initiation

Word-finding difficulties

Impaired breathing (Nance et al., 2013)

Dysphagia

Aspiration

Bowel and bladder dysfunction

Weight Loss

Cognitive impairment

Attentional deficits

Speed of processing

Memory

Visuospatial abilities

Executive function

Planning

Lack of insight

Behavioural regulation

Lack of initiation

Perseveration

Impulse control (Huntington’s Disease Association, 2012)

Emotional and behavioural changes

Depression

Apathy

Irritability

Disinhibition

Jocularity

Obsessive compulsive disorder

Impaired judgement

Mania

Agitation

Delirium

Sexual disorders including loss of libido or making inappropriate sexual demands (Huntington’s Disease Association, 2012)

1.4.5 Diagnosing HD

Genetic testing in HD can serve two purposes: as a diagnostic tool and as a predictive test to identify level of risk. Genetic testing involves the examination of an individual’s DNA, which is obtained from a blood sample. DNA molecules consist of four bases, known as A (adenine), T (thymine), G (guanine) and C (cytosine). The gene that causes HD is called the HD gene, and within it there is a region in which a sequence of the three bases (CAG) is repeated many times. For individuals with HD, the CAG sequence has increased (expanded) into a range that is abnormal. Testing is done in a specialised laboratory to determine the number of CAG repeats in both copies of the HD gene (Huntington’s Disease Association, 2012).

An HD gene expansion is passed on in families and children of a parent with this expansion have a 50% chance of developing the disease. Predictive testing is a process whereby an individual at risk of the disease can discover whether or not they have inherited the expanded HD gene, and will go on to develop HD. A ‘gene negative’ result is where the number of CAG repeats is 26 or less. The individual will not go on to develop the HD and their children will not be at increased risk either (Huntington’s Disease Association, 2012).

An intermediate result is a result where the number of CAG repeats is between 27 and 35. This means that the individual will not go on to develop HD but, in some cases, may pass on an expansion to their children because the CAG repeat can be unstable when passed from one generation to the next. This can mean that sometimes children will be at higher risk for developing HD (Huntington’s Disease Association, 2012).

A reduced penetrance result is one where the number of CAG repeats is between 36 and 39. An individual with a result in this range may not develop any symptoms of HD; however, this result also means that the next generation may be at risk of inheriting a larger expansion as it would also be unstable (Huntington’s Disease Association, 2012).

A full penetrance or ‘gene positive’ is a result where the number of CAG repeats is 40 or more. The individual with this result will always go on to develop HD at some point in the future. The result does not give information on the age of onset of symptoms (Huntington’s Disease Association, 2012).

Case study

Luke is 41 years old. Last year Luke underwent genetic testing following the death of his father to Huntington’s disease 8 years ago. Although Luke was aware of the genetic risk of HD he previously did not feel able to cope with genetic testing and opted to continue life without knowing the potential risk. However as he began to realise that some potential signs might be emerging within his everyday life, he felt it was now necessary for him to have a more definite prediction of what might lie ahead. It was confirmed that Luke had a full penetrance result confirming that he would go on to develop HD. Luke was devastated by the outcome as he now had two young children of his own. While Luke had been aware of his father’s condition he previously refused to attend for genetic counselling. Luke and his wife Amy aspired to have a normal family life and did not wish to acknowledge the potential risks when planning their family.

Luke works as a self-employed plumbing and heating engineer. Recently he had noticed some slight clumsiness or lack of co-ordination when working with his tools. This did not really impact on his ability to complete jobs, but he found he was becoming slightly weaker when unscrewing tight fastenings, greater difficulty when working within confined spaces and some difficulties with tasks requiring the simultaneous use of both hands. He was aware that it was taking him longer to complete jobs which placed him under significant pressure as in his trade time was money and this could have significant financial implications if he was unable to accept the same number of jobs. He also had many regular customers and had spent several years building a reputation as a reliable and dependable tradesman. Luke did not wish to let his customers down.

In addition to the practical aspects of his job Luke was also aware that he was finding it harder to plan his work schedule. He felt he was wasting valuable time as he was not planning his jobs in the same way to minimise travel time, and on occasions was significantly under-estimating how long it would take to complete a job. Previously Luke would have done this automatically, but now he was finding that he had to give this much more thought and was becoming angry and frustrated with himself because of this. There had also been some occasions when Luke had turned up for a job but had not brought the right tools or equipment. Again this had time and financial implications for him.

Luke also had responsibility for the administration aspects of his business including tax returns, book-keeping, preparation of customer invoices, and he was very concerned that he was making some mistakes with this. Luke had previously been a bit of a perfectionist, but now he was regularly making small mistakes and errors. Initially he attributed this to tiredness as he worked long hours, but he didn’t cope well with this change and got very frustrated with himself for making mistakes. He was starting to doubt his own ability and found himself taking more time to check his work to see that it was accurate.

Amy was aware of changes in Luke as he was forgetting things that she had told him during conversations. There were numerous occasions when Luke would say ‘You never told me that…’ when Amy was confident that a discussion had taken place. Luke had previously been very gentle and mild mannered and loved spending time with his family. More recently Luke had become irritable with Amy and the children. He seemed less tolerant of the children’s behaviour and seemed to be more reactive and angry with them all.

On occasions Luke had made rather unusual comments to people such as when waiting in the queue in the supermarket, or when trying to find a parking space. Amy was quite embarrassed by this and was concerned that Luke did not seem to understand why this might be inappropriate. Luke was very aware of twitching in his hands and feet and was quite uncomfortable about this when he was out in public. Amy felt that some of Luke’s seemingly inappropriate comments to people were due to the fact that Luke thought they were staring at him.

Although Amy and Luke felt they were coping well with the diagnosis, it was clear that they were not able to talk to each other about their worries, concerns, hopes and wishes. This was contributing to pressures within their relationship and both were becoming very low in mood. The HD Specialist Nurse was involved in Luke’s care and recognised the need for practical support for Luke and his family and initiated a referral to occupational therapy.

Luke initially refused to be referred to an occupational therapist but in time rather reluctantly agreed to this. It quickly became apparent that Luke’s attitude was that ‘nothing could be done to make him better’, that he ‘had created this problem for his children’ and that ‘he was responsible for their future’, including the potential risk of their development of HD. Luke felt he was letting everybody around him down as his family relied on him for financial support and that he should be providing for his family. Luke worried for Amy and the potential that she might need to care for him as the disease progressed. He did not feel that Amy was strong enough to cope with this as she had experienced problems with depression in the past following the birth of their children. Luke did not wish to burden his mother who was still working through the loss of his father.

1.5 Motor neurone disease

MND is a term used to describe a group of related diseases that attack the motor neurones (MND Association, 2012). It is a life-limiting condition that progressively impacts on the ability to perform daily functions. The average age at symptom onset is between 50 and 70 years, although it may occur earlier or later in life. Typically symptoms such as stumbling, foot drop, weakened grip, slurred speech, cramp, muscle wasting and fatigue occur in the early stages becoming progressively worse over a 2–5-year period. The current incidence is 2 : 100 000 per annum, rising with age and prevalence rates of 7 : 100 000, with a male : female ratio of 3 : 2 (MND Association, 2012).

Amyotrophic lateral sclerosis

Around 85% of people with MND will be diagnosed with amyotrophic lateral sclerosis (ALS). Early symptoms can include muscle weakness with spasticity in the upper or lower limbs which become progressively worse over a 2–5-year period. Where the initial onset is in the bulbar territory, survival tends to be shorter (2–3 years) (MND Association, 2012).

Progressive bulbar palsy

In this form of MND early bulbar signs can be relatively confined for several months before limb involvement becomes apparent. The overall survival rate for this form is 6 months to 4 years with a gender ratio of 1 : 3 male : female (MND Association, 2012).

Progressive muscular atrophy

Affecting less than 10% of people with MND progressive muscular atrophy (PMA) is characterised by a slowly progressive, proximal upper limb weakness which is usually symmetrical, and accompanied by visible fasciculations (MND Association, 2012).

Primary lateral sclerosis

This is the rarest form affecting approximately 5% of people with MND. It is characterised by spasticity and increased reflex response, as only upper motor neurone damage occurs. Often balance is affected and survival is notably longer (10–20 years) (MND Association, 2012).

1.5.1 Body functions

The motor neurone diseases are a group of progressive neurological disorders that destroy motor neurones, the cells that control essential voluntary muscle activity such as speaking, walking, breathing and swallowing.

1.5.2 Body structures

Motor neurones are nerve cells which carry an electrical transmission from the central nervous system to the muscles triggering a muscle to either contract or relax. The damage which occurs in MND leads to an interruption in the electrical transmission, resulting in a breakdown in the communications between the brain and the muscles. Impairment of the upper motor neurones leads to weakness and stiffness in the muscles, while lower motor neurone damage results in weak, floppy muscles and fasciculations (MND Association, 2013; Figure 1.2).

Figure 1.2 Comparison of healthy and motor neurone affected by MND.

(Source: MND Association, 2013, p. 7. Reproduced with permission of MND Association.)

1.5.3 Genetic Risk

Sporadic MND

While there is no known reason currently why some people may be at greater risk than others of developing MND genetic susceptibility and environmental factors may contribute to increased chance. For 90–95% of people diagnosed with MND, there is no family history of the disease (MND Association, 2012).

Familial MND

Of the remaining 5–10%, however, the disease is caused by genetic mutation. Currently there is no genetic test available that can confirm whether or not the disease is familial. Familial MND nearly always displays autosomal dominant inheritance, although penetrance is sometimes reduced, and the disease can appear to skip a generation. Age and site of onset can vary between cases within the same family (MND Association, 2012).

1.5.4 Impairments

Muscle weakness

Spasticity or stiffness in the limb muscles

Slow and effortful movements

Knee and ankle jerks

Sudden muscle cramps

Loss of voluntary movement

Twitching and fasciculation

Pain

Dysarthria

Dysphagia

Respiratory insufficiency

Acute dyspnoea

Saliva and mucus problems

Fatigue

Constipation

Cognitive changes including executive functions and memory problems and, in some cases, frontotemporal dementia

Emotional and behavioural change including the following:

Emotional lability

Significant personality change

Disinhibition and impulsivity

Perseveration

Change in eating behaviour (sweet food preference)

Loss of emotional understanding (appear egocentric/selfish)

Withdrawn (apathy/failure to initiate)

Stereotyped/ritualistic behaviour

Behaviour change (MND Association, 2012)

1.5.5 Diagnosing MND

No specific diagnostic tests currently exist, but neurological investigations should normally include EMG, nerve conduction studies, blood tests and investigations that sometimes include MRI/CT scanning, lumbar puncture and muscle biopsy to exclude possibility of other neurological conditions. According to the MND Association (2013), MND can be extremely difficult to diagnose for several reasons:

It is a comparatively rare disease.

The early symptoms can be quite slight, such as clumsiness, mild weakness or slightly slurred speech, all of which may have been attributed to a variety of other causes.

It can be some time before someone feels it necessary to see a GP.

The disease affects each individual in different ways, not all symptoms may be experienced or appear in the same sequence.

Case study

Evie is 54 years old and lives with her husband Colin. They have three daughters and a son, three of whom live locally within the small village in which Evie grew up. Evie worked in the local school dinner hall and had recently become aware of some loss of function in her left hand. When she examined this a bit more closely, there was a noticeable loss of muscle bulk in her forearm which concerned her. Although seemingly unrelated at the time Evie was aware that at times she seemed to have difficulty forming words and her speech sounded slurred. One evening while Evie was sitting watching television, her husband drew her attention to the muscles in her forearm which were ‘flickering’ uncontrollably. Evie was aware of this but did not know why this was happening. While Evie did not connect any of the observations, she nevertheless made an appointment with her GP to allay her concerns.

When Evie attended the appointment with her GP, they discussed a number of factors. Evie then recognised that she had been experiencing muscle cramps in her legs but thought this was just due to her exercise regime. Evie remembered that she had tripped on a few occasions recently as her foot seemed to be tired, but this seemed to depend on which shoes she was wearing. Evie had never thought about her swallowing before, but when asked by her GP she realised that her family had made comments about her not taking time to digest her food properly. While at this stage none of this seemed to connect for Evie, there was sufficient evidence for a referral to the neurologist.

Evie attended the neurology appointment with her husband and eldest daughter. Following a thorough clinical examination and history Evie was referred for nerve conduction studies, blood tests, an EMG and an MRI scan. Evie was keen to understand what the neurologist was considering but he was giving very little away at this stage. Evie attended for all her appointments as arranged but in the meantime began to look for information on the Internet regarding the combination of symptoms which were becoming apparent. Evie’s aunt had died several years previously from motor neurone disease and Evie was beginning to wonder if there was any connection.

When Evie returned to the neurology clinic, she was given the diagnosis of motor neurone disease. Evie’s family were devastated as they had never anticipated this. Evie, being slightly more prepared for this possibility seemed more able to take on board the information which was being shared at this point. Evie was immediately referred to the MND Regional Care Officer and to the multi-disciplinary team. Evie had never heard of occupational therapy but was happy to meet the occupational therapist at the clinic.

When Evie met the occupational therapist she was walking, talking and managing most of the activities within her everyday routine. Her mood was particularly positive and her outlook pragmatic. Evie was aware that her family would require support through this inevitable journey and recognised that her own attitude towards the disease would be pivotal in influencing how they coped with this. Evie shared her concerns about each family member with the occupational therapist and the type of support they would require. Evie also wanted to make her own wishes very clear at this stage while she could.

Evie’s difficulties at the time of the occupational therapy referral included loss of power and muscle wastage in her non-dominant hand, fatigue, slow and slurred speech, difficulty with swallowing and shortness of breath. Evie lived in a privately owned home with all facilities upstairs. Evie was no longer working and was visited daily by her family and friends. On one occasion, Evie had 14 visitors coming through her home in one day. While this was really positive in the early stages, this became exhausting for Evie as she became less able. Despite the fairly rapid progression and loss of speech Evie communicated with a communication aid, thanking the occupational therapist on every occasion for her help. Evie developed a relationship with the occupational therapist based on trust and collaboration, which allowed her to share her concerns and frustrations but also her hopes and wishes. Evie communicated with the occupational therapist by text messaging outwith appointments, offering some tremendous insights into her thoughts and feelings given the opportunity to be open and honest in her communications.

Evie continued to deteriorate but remained the matriarch of her family. She experienced some initial difficulties with low mood which required intervention. Her upper limb became weaker, her mobility deteriorated, she continued to experience swallowing difficulties and she lost weight. Her respiratory function deteriorated and she required assistance with breathing at night. Evie’s environment was adapted to make life easier for her and her family. They coped with the ongoing deterioration ensuring at all times that Evie’s dignity and self-respect were at the forefront of decisions. Evie’s concerns throughout her illness were always that of her family and how they would cope after her death. Evie made a lasting impression on everyone she came into contact with, a legacy that her family were proud to hold on to.

1.6 Multiple sclerosis

MS is the most common disabling neurological condition in young adults, affecting around 100 000 people in the United Kingdom. It is most often diagnosed in people between 20 and 40 years of age and affects three times more females than males (MS Society, 2011).

The clinical course of MS may follow a variable pattern over time (Lublin and Reingold, 1996) and is usually characterised by episodic acute periods of worsening, described as attacks, exacerbations or relapse. Typically attacks arise subacutely over hours to days, then plateau and remit partially or fully over the course of weeks or months, either spontaneously or with intervention (Keegan and Noseworthy, 2002). MS is classified according to disease course with each presenting different clinical and epidemiological patterns. The most common classifications of MS include relapsing-remitting (RRMS), primary progressive (PPMS), secondary progressive (SPMS) and benign MS.

In the early stages following diagnosis people with MS typically present with a relapsing-remitting course in which clearly defined relapses are followed by full or partial recovery. Periods between disease relapses demonstrate a lack of disease progression. After an average of 15 years, the disease develops into a secondary progressive phase during which the course becomes either continuously progressive or progresses with occasional relapses, minor relapses and plateaus. PPMS is characterised by disease progression from onset with occasional plateaus and temporary minor improvements apparent (Lublin and Reingold, 1996).

1.6.1 Body functions

The function of the brain is to interpret sensations and initiate movements and other responses to those sensations. This activity depends upon a highly complex communication system of nerves running from the brain throughout the body via the spinal cord.

1.6.2 Body structures

Each nerve of this complex communication system can be compared to an electric cable. The inner part of the nerve, the axon, is made of conductive tissue and carries messages, or impulses, throughout the body. The axon is surrounded by a layer of fatty substance, the myelin sheath, which protects and insulates the nerve to prevent interference to the impulses passing along it.