Thesis

Marieke Lindenschot Measuring the quality of performance of meaningful activities in children with a mitochondrial disorder

Marieke Lindenschot Measuring the quality of performance of meaningful activities in children with a mitochondrial disorder

Colofon Measuring the quality of performance of meaningful activities in children with a mitochondrial disorder The work presented in this thesis was carried out within the Radboud Institute for Health Sciences, at the department Scientific Center for Quality of Healthcare (IQ Healthcare), and the HAN University of Applied Sciences, School of Allied Health & Research Group Neurorehabilitation, Nijmegen. The studies in this thesis were financially supported by the Netherlands Organization for Scientific Research (NWO) through a scholarship, project number 023.009.016. Financial support for the printing of this thesis has kindly been provided by Radboudumc. ISBN 978-94-6421-892-3 Cover design/lay-out Promotie In Zicht | www.promotie-inzicht.nl Print Ipskamp Printing © 2022 Marieke Lindenschot, Nijmegen, The Netherlands All rights reserved. No part of this dissertation may be reproduced, stored or transmitted in any form or by any means without prior written permission from the author, or if applicable, from the publishers of the scientific articles.

Proefschrift ter verkrijging van de graad van doctor aan de Radboud Universiteit Nijmegen op gezag van de rector magnificus prof. dr. J.H.J.M. van Krieken, volgens besluit van het college voor promoties in het openbaar te verdedigen op dinsdag 22 november 2022 om 10.30 uur precies door Marieke Lindenschot geboren op 13 september 1985 te Ruurlo Measuring the quality of performance of meaningful activities in children with a mitochondrial disorder

Promotoren Prof. dr. M.J.L. Graff Prof. dr. M.W.G. Nijhuis-van der Sanden Copromotoren Dr. I.J.M. de Groot Dr. S. Koene (LUMC) Dr. E.M.J. Steultjens † Manuscriptcommissie Prof. dr. T. Kleefstra Prof. dr. C.D.M. van Karnebeek (Amsterdam UMC) Dr. C. Chapparo (University of Sydney, Australië)

Voor Esther Steultjens “Tell me and I forget. Teach me and I may remember. Involve me and I learn” (Benjamin Franklin) “Als jij het belangrijk genoeg vindt, dan onthoud je het wel” (Esther Steultjens)

Table of contents Chapter 1 General Introduction 13 Part I 33 Chapter 2 Everyday activities for children with mitochondrial disorder: a retrospective chart review Occupational Therapy International, 2018 35 Chapter 3 The perspectives and values of children with a mitochondrial disorder with regard to everyday activities Journal of Developmental and Physical Disabilities, 2020; 32(3), 509-534 53 Chapter 4 Tailored interviewing to uncover the perspective of children with multiple disabilities on daily activities: a qualitative analyses of interview methods and interviewer skills Australian Occupational Therapy Journal, 2022 87 Chapter 5 Insight into performance of daily activities in real life of a child with limited physical, cognitive and communication abilities: a case report Journal of Occupational Therapy, Schools & Early Intervention, 2022; 15(2), 205-217 111 Part II 129 Chapter 6 Perceive, Recall, Plan, and Perform (PRPP)-Assessment based on parent provided videos of children with mitochondrial disorder: action design research on implementation challenges Physical and Occupational Therapy in Pediatrics, 2022 131 Chapter 7 The Reliability and Validity of the Perceive, Recall, Plan, and Perform Assessment in children with mitochondrial disorder Disability and Rehabilitation, 2022 155 Chapter 8 Using PRPP-Assessment for measuring change in everyday activities by home-based videos: an exploratory case series study in children with multiple disabilities Revised version submitted to Journal of Occupational Therapy, Schools & Early Intervention 195 Chapter 9 General Discussion 223 Chapter 10 Summary Nederlandse samenvatting Extensive summary for educational purposes 249 251 253 Appendices Dankwoord Nawoord Portfolio Research Data Management Curriculum Vitae List of publications 269 277 279 281 283 285

Voorwoord In aanloop naar dit proefschrift waren er twee persoonlijke ervaringen die mijn interesse in de twee delen van mijn proefschrift versterkten. Graag neem ik jullie mee in deze ervaringen om mijn drijfveren voor dit promotieonderzoek te verhelderen. Persoonlijke ervaring (1) Toen ik me ging verdiepen in de doelgroep kinderen met mitochondriële aandoeningen kreeg ik het aanbod om een dag met een collega mee te lopen die werkte met kinderen met meervoudige beperkingen waaronder ook enkele kinderen met mitochondriële aandoeningen. Deze collega was geen grote voorstander van kwalitatief onderzoek. Deze collega zag het ook niet zitten met deze doelgroep; “met de meeste kinderen kun je niet communiceren”. Mijn collega zei het terloops, maar voor mij was dit best wel een grote uitspraak. Als we niet kunnen communiceren met het kind, hoe komen we er dan achter wat voor het kind belangrijk is? Eerder onderzoek heeft aangetoond dat ouders het lang niet altijd bij het juiste eind hebben als ze het over de mening van hun kind hebben, en als het kind dan dit zelf niet kon tegenspreken of aanvullen, hoe ziet persoonlijke zorg er dan uit? Hoe zorgen we er dan voor dat wat we doen ook daadwerkelijk zinvol en betekenisvol is? Met dit vraagstuk nog in mijn hoofd ontmoet ik Alex (gefingeerde naam) en zijn ouders. Alex is een jongen in een blauwe elektrische rolstoel en zowel zijn ataxie als levendige ogen vallen mij gelijk op. Mijn collega vraagt ouders de plaatsen tegenover hem te nemen en Alex wordt aan de zijkant van het bureau geplaatst. Een beetje buitenspel voor mijn gevoel. Ik pak een krukje en ga naast Alex zitten. Hij kijkt en lacht naar me. Ik lach terug en zeg “blauw is vast jouw lievelingskleur”. En als reactie lacht hij nu met zijn hele gezicht. Ik heb het goed. Ook niet erg moeilijk met die knalblauwe rolstoel en blauwe hoes om zijn Ipad. De collega begint het gesprek met ouders; het gaat over de ontwikkelingen van Alex van het afgelopen jaar en de vragen van ouders of er geen behandeling is om Alex beter te maken. Alex maakt me met zijn ogen duidelijk dat ik naar zijn Ipad moet kijken. Na een (gesloten) vraag en (mimiek) antwoord spel maakt Alex mij duidelijk dat zijn oom en tante een ongeluk hebben gehad en daarbij zijn overleden en dat zijn neefjes nu bij hem in huis wonen. Welk soort ongeluk het was (auto, verbouwing, etc) krijg ik niet duidelijk, maar wel dat Alex het leuk vind dat zijn neefjes nu bij hem in huis wonen. Ik blijf het bijzonder vinden dat zoiets persoonlijks naar voren komt in een gesprek waarbij Alex de volledige initiatiefnemer was. Ik verifieer de informatie bij ouders; ja het klopt en het heeft ook invloed op het dagelijks handelen van ieder gezinslid. Het komt verder niet meer aan bod in het gesprek. Wanneer alles besproken is, nemen mijn collega en ik afscheid van dit gezin. Als ze de hoek om zijn zegt mijn collega: “dit bedoel ik dus, met deze kinderen kun je niet communiceren”. Wauw, waren wij in dezelfde kamer? Ik geloof dat ik

zojuist mijn motivatie en kernpunt van mijn promotieonderzoek heb gevonden. Misschien dat de kinderen niet kunnen praten, maar wel communiceren. Ik wil ze een stem geven! Ik wil dat het kindperspectief meegenomen wordt in de zorg. NB: deze collega is inmiddels niet meer werkzaam in de zorg. Daarnaast maak ik graag de opmerking dat deze ervaring absoluut niet representatief is voor de vele betrokken en bevlogen collega’s die zich bezig houden met deze doelgroep, in tegendeel! Persoonlijke ervaring (2) Ik was lekker op weg met mijn promotieonderzoek en werkte ook twee dagen op de ergotherapie opleiding. Af en toe ‘kluste ik nog wat bij’; lezing geven, dagvoorzitter zijn, post-HBO onderwijs geven. De perfecte combinatie voor mij. Ik houdt van lekker bezig zijn en verschillende dingen op mijn bordje te hebben liggen. Waar andere mensen dit onoverzichtelijk kunnen vinden, kan ik ervan genieten als het lukt alles te stroomlijnen. Organisatie, plannen en geheugen zijn absoluut mijn kwaliteiten die ik graag inzet in mijn dagelijks leven. “Vraag maar aan Marieke, die weet het wel”, hoorde ik vaker. Maar toen… werd ik zwanger… En tja, dat overzicht werd minder want mijn brein werd ineens in beslag genomen door een zwangerschap, een aanstaande baby en moederschap. Dat ik ook nog aan het verhuizen was zal vast ook meegespeeld hebben. Mijn geheugen liet me steeds vaker in de steek. Mijn collega’s moest ik steeds vaker teleurstellen: “ik weet het niet (meer)”. Enorm frustrerend. Mijn omgeving begreep het niet. “Jij krijgt altijd alles sneller en beter georganiseerd, werkt altijd zoveel sneller dan de rest, kunt alles beter onthouden, je zit nu gewoon op normaal niveau. Je voldoet eindelijk aan de norm!” Tja… dat kan wel zijn, maar ik werd er op zijn zachtst gezegd ongelukkig van. Dingen die onderdeel waren van mijn dagelijks leven kon ik niet meer op het door mij gewenste niveau uitvoeren. Dat het nog wel voldeed aan de norm was in mijn ogen waardeloos, het voldeed niet aan mijn eigen criterium! En hier komen we bij een belangrijk tweede punt van mijn proefschrift; de overbodigheid van refereren aan een norm en de relevantie van het meten naar een persoonlijk criterium. Uiteraard is in sommige gevallen weten of iets voldoet aan de norm best zinvol, maar waarom gaan we vergelijken met een norm als we de uitslag vooraf al weten? Kinderen met een mitochondriële aandoeningen zullen nooit aan de norm van regulier ontwikkelende kinderen voldoen, wat levert een uitslag van -2SD dan op? Zouden we niet gelijk moeten kijken naar wat voor het individu belangrijk is? Aan welke verwachtingen het kind wil of moet voldoen? En dan kijken hoe goed hij of zij in staat is dit te halen? In mijn geval betekende het dus niet vergelijken met mijn andere collega’s, maar vergelijken met wat ik gewend was en wat ik nodig had om te functioneren. Op een norm-gerefereerd instrument zou ik misschien nog steeds goed functioneren, maar dit deed geen recht aan mijn subjectieve beleving.

Op een criterium-gerefereerd instrument zou de beleving tot zijn recht komen en zou ik als het goed is ook kunnen zien waarop ik kan verbeteren. Veel relevanter! Derhalve pleit ik voor meer criterium-gerefereerde instrumenten in de zorg. En met dit proefschrift hoop ik een eerste stap in die richting te zetten. Overigens is mijn ‘beheersingsniveau’ wel weer enigszins gestegen na mijn twee zwangerschappen, alhoewel ik vrees dat ik mijn criterium toch opnieuw moet bepalen, omdat de ‘taak’ complexer is geworden; er zijn twee kinderen bijgekomen.

General Introduction CHAPTER 1

GENERAL INTRODUCTION 15 1 “I would like to take the traffic-exam, just like my friends. But I am not allowed to participate, because I cycle too slowly.” “I would love to play with my friends every day. But regularly I can’t, because I am so tired, nauseous and dizzy. That makes me sad.” “I don’t participate in gym class at school. If I did, I would be too tired for afternoon classes. My classmates are always so excited when they come back. Therefore, I feel like I am missing out on fun times.” “My child is totally dependent on me. I support him in everything. I worry about his feelings and emotions. I wonder what he himself would want.” “She wants to learn to tie her shoe-laces, but that doesn’t seem wise. That will take so much energy out of her; both learning and doing it every day. So that’s why I always buy shoes with Velcro.” These statements above are from children with a mitochondrial disorder and their parents. Children with a mitochondrial disorder and their families may come across many challenges and barriers in their daily lives. Generally, the disease can be labelled as progressive, as in 74% of the disorders the prognosis is that children die before the age of 10 years1, 2. In addition, due to the progressiveness of the mitochondrial disorder, children constantly have to adapt their occupational performance to their (dis)abilities. Therefore, it is of high value to keep in mind what is important to the child when it comes to quality of life, occupational engagement, and participation as being able to perform meaningful activities is an important determinant for health and wellbeing of children3-5. This might deserve even more attention when participation is being threatened by a disorder that has such a huge impact on daily activities. In order to address individual relevant activities in health care, we need to unravel which activities are important for the individual child and assess the current quality of performance of these activities. This information should give directions to develop tailor-made interventions fitting with the more participation-focused approach on health, which requires a shift in perspective and values: from promoting doing things “normally, correctly, nicely or independently” to promoting “doing things that matter”6. Therefore, the overall objective of the studies of this thesis is to investigate how to identify and measure meaningful everyday activities of children with a mitochondrial disorder in a reliable, valid and responsive way, in order to contribute to better person-centred health care for this complex, heterogenic group of children. This first chapter provides an overview of the consequences for the child

CHAPTER 1 16 of having a mitochondrial disorder, and the need and challenges in addressing the child’s perspective and in using adequate evaluation assessments in person-centred health care for these children. The chapter concludes with an outline of this thesis following the path from the needs of the child from their own perspective to assessing performance of meaningful activities in a reliable, valid and responsive way. Children with mitochondrial disorder Mitochondrial disorders are a heterogeneous group of disorders with variable genetic cause and variable phenotype. The prevalence of mitochondrial diseases is estimated at 5 to 23 per 100.0007-9, depending on the method used. The prevalence of childhood mitochondrial disease contributes to about one-tenth of the cases9. In addition, 23 in 100,000 people carry pathogenic mutations and either have disease or are at risk of disease in the future9. Although the estimated prevalence does not seem that high, mitochondrial disorders are one of the most common inherited errors of metabolism7. Mitochondrial disorders can be caused by mutations of genes encoded by either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA)10. Since 2010, genetic diagnostics have improved and mutations are easier to detect. Mutations have been identified in more than 230 different genes10, 11, and the number of identified genes associated with mitochondrial disorder is continuously increasing12. This heterogeneity is also reflected in the clinical phenotypes associated with mitochondrial disorder, with a large range of symptoms and impairments13-15. Figure 1 Multi-system involvement of mitochondrial disorders16

GENERAL INTRODUCTION 17 1 Roughly, two main clinical phenotypes can be observed: mitochondrial encephalopathy (with mainly central nervous system involvement) and mitochondrial myopathy (mainly muscle involvement). However, in reality, most children have a combination of both phenotypes, either or not in combination with involvement of other affected organs or tissues. The most commonly affected organs include: brain, eye, heart, liver, gastrointestinal system, nerves and skeletal muscle (Figure 1)16, which lead to a variety of symptoms. While the main focus of research has been the identification of causes, the examination of phenotypes and symptom management, since the last decade the focus has broadened to the level of activity and participation and the patient’s perspectives. This showed that the most burdensome symptoms for children vary, but overall children experience fatigue and lack of energy, speech and language problems, muscle weakness, and developmental delay as the most burdensome symptoms15. Unfortunately, a cure is not yet available for this generally progressive and in some cases devastating disease1, 2. Therefore, medical treatment focuses on disease management, which consists of relieving symptoms and monitoring organ function. Thus, allied health interventions are focused on maintaining and/or improving daily functioning. Accordingly, taking the large variety in the manifestation of the disease and the progressiveness into account in combination with the development of the child, treatment should be tailor-made and frequently adapted to the course of the disease. Impact of children’s disabilities on their daily activities Performing meaningful everyday activities is a basic human need5, and the most important part of participation17. Moreover, it is a human right to be able and participate in meaningful activities and use someone’s personal abilities in its full potential in the relevant context, which is called ‘occupational justice’ 18-24. However, engagement in age-related activities is not self-evident for children with a disability, as disabilities can negatively influence participation25, 26. Literature reviews provide knowledge about how children with disabilities experience the meaning of activities27, 28 but are mainly focused on leisure. This is remarkable, as disabilities will impact daily activities in all occupational performance areas, including personal maintenance and productivity, and leisure25, 26, 29. This impact on all areas of daily life is confirmed by Koene et al.15, who reported that children with a mitochondrial disorder experience difficulties in learning to write or calculate, engaging in activities at school, in the neighbourhood and community, participating in employment preparedness programs, walking and using the toilet, as the most burdensome in participating in everyday life. The extent of perceived limitations in activities and participation for children with mitochondrial disabilities varies from

CHAPTER 1 18 none to extremely high15; whereas some children remain in a mainstream school and achieve normal milestones, others barely interact with their environment30. The clinical guideline of management of patients with mitochondrial disorders focuses on interdisciplinary treatment existing of general advices regarding nutrition, medication, exercise, and recurrence risk31, but doesn’t address advices or treatment that focuses on optimizing engagement in daily activities. Although this is remarkable in relation to the recent focus on personalized medicine, it shows that the overall approach is still dominated by the biomedical focus. In addition, the World Health Organization (WHO) still uses the definition on health as “Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity’32 . While this was ground-breaking when developed in 1948 because it embodied mental and social aspects next to physical aspects, it still focuses on ‘functions’ instead of activity or participation. Hence, in 2011 a new concept was proposed as to ‘Health as the ability to adapt and to self-manage’, in the face of social, physical and emotional challenges33. This concept of ‘positive health’ focuses, amongst other factors, on meaningful daily activities and participation and on resilience33-35, which determines the ability to perform (and adapt) meaningful activities. This focus seems more fitting with the progressiveness of the disease and with person-centred care. Therefore, since no cure for this progressive disorder is available yet, it is important to not only focus on the biomedical treatment, but also and especially monitor the course of the disorder on the level of meaningful occupational performance to maintain and/or improve quality of life. Challenge for person-centred care to address the child’s perspective in health care Since the late 90s there is an increasing interest for patient centred care, which then means ‘taking into account the patient’s desire for information and for sharing decision making and responding appropriately’36. Although, there is no universal definition of patient-centred care, there are three themes that can be identified37: patient participation and involvement, the relationship between the patient and the healthcare professional, and the context where care is delivered. While the latter one is the most difficult to change or influence, the first two themes are important to incorporate into the care. Sub-themes of patient participation and involvement are: 1) patient participating as a respected and autonomous individual, 2) care plan based on patients individual needs, and 3) addressing a patient’s physical and emotional needs. Sub-themes of relationship between the patient and the health professional are: 1) genuine relationship, 2) open communication, 3) health professional having appropriate skills and knowledge, and 4) a cohesive and

GENERAL INTRODUCTION 19 1 co-operative team of professionals37. Translating the focus of patient-centred care to paediatric health-care, there are different terms used in literature; child-centred care, family- and child-centred care or child- and family-centred care. However, it is clear that we need to honour the children’s right to be active participants and active partners along with their parents in their health care38. To clarify, there are several reasons to invest in uncovering the child’s perspective; firstly, the UN convention on Rights of the Child states that children have a right to express their opinions about issues affecting them and the right to have these views heard39-41; secondly, these rights on the Convention must be applied without discrimination, regardless of whether a persons is disabled41, 42; thirdly, it is known that relying on parents or carers for insight into their child’s experiences is not the best choice43-46; and lastly, as the meaning of activities relate to Self-Determination Theory (SDT), using meaningful activities can motivate the children and therefore improve effectiveness of care47-50. Therefore, it is quite self-evident that we need to incorporate the child’s perspective to provide person-centred care to children43, 51. According to Söderback, a child-centred approach “includes both the adult’s child’s perspective concerning the children’s best interests in terms of care and the child’s perspective with respect to his or her preferences”52. Whereas professionals do not find it difficult to capture the adults perspective on their child, incorporating the child’s perspective itself can be more challenging38. Incorporating the child’s perspective can be translated to knowing what the personal wishes and needs of the child are. But to be truly person-centred, knowledge should go further than that. Based on the Model of Human Occupation (MOHO)53-55, an insight in the ‘volition’ subsystem, the ‘habituation’ subsystem and the ‘performance’ subsystem is necessary as these are the personal aspects that influence meaningful occupational performance. The volition subsystem embodying the self-efficacy, values and interests of the child, the habituation subsystem embodying the roles and habits of the child, and the performance subsystem embodying the skills or performance capacity of the child. To get insight into these three subsystems subjective measurement (e.g. interviewing the child) and objective measurement (e.g. observing/assessing the child) is recommended. While there are challenges for both subjective and objective measurement, in this paragraph we will focus on the challenges for subjective measurement. For subjective measurement, interviewing children can be problematic due to several reasons; e.g. children’s level of linguistic communication, their cognitive development, the question-and answer setting, and the power dynamics between the adult and the child56. However, overcoming these problems is important, as effective communication about wishes and needs is important for person-centred care, especially for “communication vulnerable people”57. It is known that the main influencing factors in the communication betweenclients andprofessionals are: efforts put into improving thecommunication,

CHAPTER 1 20 knowledge of the professional, augmentative and alternative communication, time for communication and the influence and power of the client57. Especially for children, it should be added to consider the right context, the creativity and ability of the professional to adjust ways of communication and the communication level to the child’s abilities58-62. In addition, these general communication guidelines, specific for gaining knowledge on meaningful activities it is useful to focus on ‘signal words’ that children use for the meaning of activities. Schot et al.63 studied this for the Dutch culture and found words as important, fun, useful, interesting, awesome, cosy, nice, and learning experience. In brief, as many children with a mitochondrial disorder experience communication problems15, it is important to be aware of all the factors influencing communication to gather information on the child’s volition-, habituation- and performance- subsystem, so person-centred paediatric care becomes a possibility. However, clear practical guidelines on how to start communication with a child and adapt this in practice, like a ‘decision-­ algorithm’, is missing. Measuring effectiveness of person-centred care To be able to tailor care to meaningful activities and measure its effectiveness, we need to be able to measure on a personalized level. In addition, measurements need to be ecologically valid, which means that the outcome should represent behaviour in the ‘real world’64. Translating this to an occupational therapy perspective, observing ecological valid occupational performance, incorporates that it fits with the nature of the person, environment and occupation (PEO-model). In addition, it should be sensitive to measure changes in occupational performance throughout the life-span, see Figure 265. Based on the PEO-model, we can formulate several requirements for a suitable assessment. Firstly, the assessment should be applicable to the different levels of functioning of the child (person component). For example, it should fit with the physical, cognitive, emotional and communicative abilities of the child. Secondly, the assessment should measure activities in the actual context (environment component). For instance the home or school environment, and not the hospital. Lastly, the assessment should fit with the activity preferences of the child (occupation component). In summary, integrating the three components of the PEO-model; the child should be able to choose which activity is measured, and perform this activity in its own way in its own environment. In addition, the measurement should not ask for specific assignment (unless it fits the actual situation), and should require little floor- and ceiling effects to fit to all different levels of functioning. In addition, to measure effectiveness of care and contribute to evidence based practice, it is

GENERAL INTRODUCTION 21 1 preferred that assessments can be applied in practice and in scientific research. Therefore, there is a need for assessments that are flexible enough to make personalized measurements of heterogenic groups possible, such as for children with mitochondrial disorders, but are standardized and rigour enough to measure effectiveness in practice and research. Assessment to measure occupational performance of children with a mitochondrial disorder Several assessments are available to measure occupational performance, but not all of them are flexible enough to be applied to children with severe or multiple disabilities. In an extensive review of Koene et al.30 several instruments were identified that measure on the activities level of children with a mitochondrial disorder. In this review, only the Paediatric Evaluation of Disabilities Inventory (PEDI)66 was mentioned to be able to give insight in occupational performance. A limitation of this questionnaire is that it is only valid for children until the age of 7.5 years. Research focusing on children with cerebral palsy67, also known for their multiple disabilities, confirms that the PEDI is the best option but its use Figure 2 Depiction of the Person – Environment – OccupationModel of Occupation Performance across the lifespan illustrating hypothetical changes in occupational performance at three different points in time65

CHAPTER 1 22 is limited to elementary school aged children. In addition, the PEDI is not a performance-based measurement, but asks parents for their opinion. An observation-­ based assessment would be preferable because it gives more objective information. As an alternative, James et al.67 mention the Assessment of Motor and Process Skills (AMPS)68 as the best measure for all age groups. However, occupational therapists in practice experience difficulties choosing AMPS standardized tasks that fit the preferences of the child and fit with the usual way of performing the tasks. In addition, the outcome of the AMPS is norm-referenced, which doesn’t distinguish enough within the group children with a mitochondrial disorder. The difference between norm-referenced and criterion-referenced tests is important in this case. Whereas in norm-referenced tests the outcome is measured against another group of children, for example age-referenced or diagnose-referenced, the outcome for criterion-referenced measures is dependent on a formulated criterion and not compared to others69. Therefore, the latter one seems to fit better with person- centred health-care, when the criterion is also formulated on a personal level. With this knowledge, Brink et al.70 performed a review focusing on measuring quality of occupational performance for children with mitochondrial disorder. They concluded that two assessments showed, specific for this target group, the best potential; the Short Children Occupational Profile (SCOPE)71, 72 and the Perceive, Recall, Plan, and Perform System of Task Analysis (PRPP-Assessment)73, 74. In addition, they also mentioned that the PRPP-Assessment focused the most on quality of occupational performance. Therefore, the PRPP-Assessment shows the best potential to be applied to the whole target group of children with mitochondrial disorder in measuring meaningful occupational performance. The PRPP-Assessment and its potential for using in children with a mitochondrial disorder The PRPP-Assessment is a criterion-referenced assessment, which is developed to assess the occupational performance in people with information-processing difficulties73-75. Its theoretical framework is the Occupational Performance Model (Australia) (OPM(A)) which illustrates the complex network of factors involved in human occupational performance76 (Figure 3). Prior to the PRPP-Assessment, the client and the professional, agree on which meaningful activitywill be observed andwhen they are satisfied on task performance (the criterion). A standardized task analysis is performed in Stage One of the PRPP-Assessment, in which the observed relevant occupational task is broken down into steps and errors in the performance are identified, resulting in a performance mastery score reflecting quality of occupational performance. In

GENERAL INTRODUCTION 23 1 stage two of the PRPP-Assessment, a cognitive task analysis incorporates the scoring of the conceptual stages of information processing influencing task performance. This task analysis includes 35 items divided into four quadrants: perceive, recall, plan and perform. Each quadrant is divided into three sub-quadrants, which includes the underlying items called descriptors (see Figure 4). The assessment can be administered based on life observations or videomaterial.73-75 The PRPP-Assessments can be applied to the whole target group of children with mitochondrial disorder, because it fits with the necessary requirements based on the PEO-model; the activity can be chosen by the child, they can perform the activity in their usual way in the actual context, and the assessment can be used with all different age groups and levels of functioning. In addition, most children with mitochondrial disorder experience information-processing difficulties and this is even more hindered when they are fatigued. The clinical utility of the PRPP-­ Assessment is good78-80 and psychometric properties have been studied in several target groups, for example adults and children with and without disabilities81, children with learning difficulties82, children with autism and intellectual disabilities83, school-aged children84, 85, adults with disabilities86, traumatic brain injury87-89, Parkinson’s’ disease90, 91, schizophrenia92, 93, dementia94, 95, and stroke96 or cancer97 survivors, and is also used as an outcome measure in research82-84, 88, 89, 98-102. Based on these studies, the reliability, validity and responsiveness can be concluded as being sufficient to good. Also clinical utility was positively evaluated in three Figure 3 Revised version (2011) of the Occupational Performance Model (Australia)76, 77

CHAPTER 1 24 studies78-80. However, most of these studies focus on homogenic groups and not on heterogenic groups of children with a combination of physical, cognitive and communicative disabilities. The heterogenic group of children with mitochondrial disorder could serve as an example for the common group of children in OT-practice; if we can measure this target group, the PRPP-Assessment can be applied to many other target groups. In conclusion, the PRPP-Assessment has potential to serve as an outcome measure in practice and research for children with a mitochondrial disorder, but psychometric properties for this target group are yet unknown. Figure 4 Quadrants, sub-quadrants and descriptor (from dark shaded to lighter shaded) -items of the PRPP-Assessment

GENERAL INTRODUCTION 25 1 Aims of the study and outline of the thesis The aim of this thesis is to investigate whether the PRPP-Assessment is a reliable, valid and responsive assessment in measuring meaningful occupational performance in the everyday life of children with a mitochondrial disorder. A prerequisite is to get knowledge on the meaningful activities from the child’s perspective. It is obvious that involving children with multiple disabilities in research, and in health care, needs more attention. With the results of this thesis we aim to give insight in ways to involve the children, and contribute to tailor-made personalized, and evidence based assessment of meaningful occupational performance in everyday life. The outline of this thesis follows two main objectives: A) Getting insight in the child’s perspective on meaningful activities, and B) Getting insight in the psychometric properties of the PRPP-Assessment in order to assess meaningful activities. To achieve this, the following questions are addressed: 1. Which everyday activities do children with a mitochondrial disorder engage in, how do they perform and experience these activities and what are their wishes and needs for everyday life? 2. What challenges do parents and professionals face when assessing meaningful occupational performance in everyday life with the PRPP-Assessment? 3. What are the psychometric properties of the PRPP-Assessment when applying it to children with a mitochondrial disorder by using parent-provided videos? For the first question, a retrospective chart study was performed which we describe in chapter 2. This resulted in a framework that showed the high variety on everyday activities, but lacked on the child’s perspective. Therefore, to get insight in children’s opinions and experiences, they were interviewed. These results are reported in chapter 3. To get insight in the child’s perspective, one of the challenges is the communication with the child. In chapter 4, we accordingly reflect on the different ways that were used to interview children. Furthermore, we focused more in depth on one child with a mitochondrial disorder and describe how we got insight into the child’s perspective by using Talking Mats®, as a prerequisite to be able to measure the performance of the child’s preferred meaningful activities with the PRPP-Assessment (chapter 5). This led to the action design study we performed to get insight in and be able to overcome challenges implementing the PRPP-Assessment in person-centred care for children with a mitochondrial disorder in the academic hospital. Findings of this action design study and ways to overcome its challenges are described in chapter 6.

CHAPTER 1 26 Chapter 7 provides an evaluation of the reliability and the validity of the PRPP-Assessment when applied to children with a mitochondrial disorder. To gather data for these two studies, parents provided video material of their children performing meaningful daily activities. In chapter 8 the results of the study on the potential of the PRPP-Assessment to measure change and the feasibility of the PRPP-Intervention within a home-based video coaching program are described. Chapter 9 finalises the thesis with a discussion of and reflection on the main findings and lessons learnt. Furthermore, recommendations for future research as well as suggestions for the clinical application of the findings of this study are given.

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