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ADC Online First, published on December 31, 2014 as 10.1136/archdischild-2014-306523 Original article
Paediatric multiple sclerosis: a qualitative study of families’ diagnosis experiences Denise Hinton, Susan Kirk University of Manchester, School of Nursing, Midwifery and Social Work, Manchester, UK Correspondence to Dr Denise Hinton, School of Nursing, Midwifery and Social Work, University of Manchester, Jean McFarlane Building, Oxford Road, Manchester M13 9PL, UK; [email protected] Received 31 March 2014 Revised 9 September 2014 Accepted 8 December 2014
ABSTRACT Objective To examine children’s and parents’ experiences of obtaining a diagnosis of paediatric multiple sclerosis (MS) and identify potential facilitators and barriers to early diagnosis. Design Qualitative, semi-structured interviews conducted face-to-face in home settings with 31 parents and 21 children and adolescents (8–17 years old) with a clinical diagnosis of MS. Participants were recruited from 16 NHS Trusts and four MS voluntary organisations in the UK. Interviews were recorded and transcribed verbatim and analysed using the constant comparative method. Results Time to diagnosis ranged from 1 to 96 months (median 11.5, mean 23.3, SD 27.3). The findings suggest that delayed presentation to healthcare services, generalists’ assumptions about the nature of reported symptoms, lack of awareness of paediatric MS and delayed referral to specialists in paediatric MS were barriers to early investigation and accurate diagnosis. Children, adolescents and parents felt that their concerns about the child’s health were not always taken seriously during medical consultations and that clinicians could be reluctant to diagnose MS in childhood. This created additional uncertainty about the child’s condition and long-term prognosis. Conclusions Obtaining a diagnosis of paediatric MS can be a challenging and lengthy process with potentially adverse implications for the health of children/adolescents. Valuing families’ knowledge and experience of their child’s health, performing a thorough medical examination early in the disease course and organising prompt referrals may aid the early investigation and diagnosis of this disease. In view of the diagnostic challenges, children/adolescents with suspected MS would benefit from early referrals to specialists in paediatric MS.
INTRODUCTION
To cite: Hinton D, Kirk S. Arch Dis Child Published Online First: [ please include Day Month Year] doi:10.1136/archdischild2014-306523
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system (CNS) that typically presents in adults (20–50 years old) but is increasingly recognised in children.1 Retrospective studies estimate 3–10% of people with MS experience onset before the age of 18.2 3 In a recent UK study the minimum incidence of first onset acquired demyelination of the CNS in children aged 1–15 in the UK was 9.83 per million children per year (95% CI 8.18 to 11.71), of which 19 of 125 identified cases fulfilled diagnostic criteria for MS.4 An expanded version of the 2010 McDonald criteria has been developed for paediatric MS which requires evidence of two clinical episodes of CNS demyelination (excluding encephalopathy and other disorders).5 The signs and symptoms of a demyelination event are variable and polysymptomatic presentation is common in children.6 7 Prompt
What is already known on this topic ▸ The onset of multiple sclerosis (MS) in children is increasingly recognised. ▸ Diagnosing paediatric MS is challenging due to similarities with other monophasic childhood conditions and differences in the clinical presentation of children and adults with MS. ▸ Early diagnosis is important for commencement of disease-modifying treatment that has the potential to slow disease progression.
What this study adds ▸ This is the first study to examine in-depth the diagnostic process in paediatric MS and to identify potential barriers and facilitators to early diagnosis. ▸ Poor awareness of paediatric MS, limited recognition of families’ specialist knowledge, misinterpretation of non-specific symptoms and difficulty accessing specialist services are possible sources of delay. ▸ This study suggests that clinicians can aid early diagnosis by listening carefully to children/ adolescents and parents, fully investigating persistent non-specific symptoms and organising prompt referrals.
diagnosis is important for early treatment and appropriate management of the physical and psychosocial aspects of the disease.8 Commencement of immunomodulatory disease-modifying therapies (DMTs) early in the disease course has the potential to reduce the frequency and severity of relapses and slow disease progression.9–11 Diagnosis may also facilitate timely access to appropriate multidisciplinary support to address cognitive deficits and psychosocial issues common to paediatric MS.12–14 Brain MRI has been key to increasing recognition and certainty of MS in children.1 Nonetheless diagnosis in childhood is challenging because current MRI criteria cannot differentiate MS onset from acute disseminated encephalomyelitis and clinically isolated syndrome.15 16 Consequently a first attack of MS can be attributed to an isolated episode of demyelination.7 Accurate diagnosis is also challenged by variants of MS and other rare presentations of demyelination 17 and differences in the clinical presentation of prepubertal patients compared with adolescents.18 19
Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Copyright Article author (or their employer) 2014. Produced by BMJ Publishing Group Ltd (& RCPCH) under licence.
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Original article No previous studies have explored the diagnosis of paediatric MS from the viewpoints of children and parents. Families’ experiences may offer new insights into the pre-diagnosis period and highlight families’ support needs. Studies that have explored diagnosis in adults highlight the potential for long delays 20 21 and associated distress,22 23 and suggest that early diagnosis improves adult patients’ quality of life and psychological wellbeing.24 This study aimed to examine children’s and parents’ experiences of the diagnostic process and families’ support needs pre and post diagnosis, identify potential barriers and facilitators to early diagnosis, and highlight the implications for professional practice and health service organisation and delivery.
METHODS Sampling and recruitment Participants were recruited via 16 NHS Trusts providing paediatric MS services and four voluntary organisations in the UK. All families meeting the study inclusion criteria (table 1) were
Table 1
approached by service providers and contacted the research team directly if they wished to participate.
Data collection Informed written consent/assent was obtained from participants prior to the interview. Qualitative semi-structured interviews were conducted with children/adolescents diagnosed with MS and their parents (by DH) in participants’ homes and were audio-recorded and transcribed verbatim. This approach allowed for focused questioning on specific topics with the flexibility to explore emerging themes.25 Questioning during early interviews was exploratory and focused on three key areas: pre diagnosis, diagnosis and post diagnosis. Questioning became more focused during later interviews to explore key themes emerging from the data. Families chose whether they were interviewed together or separately. Three adolescents chose to be interviewed separately. Interviews with younger children used ‘draw and write’ techniques to facilitate conversation (table 1).26 27 Participants were recruited over a 12-month period until thematic codes and
Methodology summary
Key information Inclusion criteria ▸ Children/adolescents aged 8–17 years old at time of interview with a clinical diagnosis of paediatric multiple sclerosis (MS) ▸ Parent, carer or legal guardian of a child aged 0–17 years old at time of interview with a clinical diagnosis of paediatric MS Exclusion criteria ▸ Young people/parents of a child aged ≥18 years old who had been diagnosed with MS in childhood (0–17 years old) ▸ Children and adolescents with demyelinating conditions other than MS (including CIS, ADEM, MDEM, NMO) ▸ Cases where MS was suspected but not clinically diagnosed were also excluded Study information Eligible families received information sheets for parents and age appropriate information sheets for children/adolescents that included: ▸ The aims and design of the study ▸ The inclusion criteria ▸ The risks and benefits of participation ▸ Information about non-participation and withdrawal ▸ Confidentiality ▸ The funding source ▸ The contact details of the researchers Interested families discussed the study in further detail with the researchers prior to giving informed consent Recruitment Number Eligible families invited to participate* 44 Families recruited to the study 23 (53%) Families that declined to participate† 21 (47%) Interview topic guide (examples of questions asked) ▸ Could you start by telling me about when (child) started experiencing symptoms? ▸ When (child) started experiencing the symptoms, what were you thinking at this time? ▸ Were other diagnoses made before the diagnosis of MS? ▸ When was the diagnosis of MS made? ▸ What information did the doctors give you when they made the diagnosis of MS? Draw and write techniques ▸ Worksheets consisting of simple diagrams and text boxes that are completed by the young person during the interview with the researcher. ▸ Worksheets focused on family structure; likes and dislikes; views of nurses and doctors; school, MS ▸ Shown to help children and young people express their thoughts and feelings during an interview28 29 ▸ May aid discussion of sensitive topics that may be difficult to verbalise28 29 Mean interview duration (min) 94 (range 60–180) Duration of data collection (months) 12 (Feb 2013–14) Data analysis procedure ▸ Data collection and analysis occurred concurrently ▸ Preliminary coding of text via line-by-line analysis and re-reading of transcript(s) ▸ Initial codes explored in subsequent interviews ▸ Early coding revisited, revised, regrouped to fit the data more closely ▸ Codes grouped into key categories and themes ▸ Relationship between codes and categories explored to further insight *Based on the number of eligible patients reported by service providers. †Reason for non-participation was not recorded. ADEM, acute disseminated encephalomyelitis; CIS, clinically isolated syndrome; MDEM, multiphasic disseminated encephalomyelitis; NMO, neuromyelitis optica.
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Original article categories were fully developed and no new categories could be identified from subsequent interviews. The study was approved by an NHS research ethics committee.
symptoms persisted for and their perceived severity. The decision to seek medical advice also depended on the young person’s willingness to discuss their symptoms (2a–b).
Data analysis
Communicating concerns to medical professionals
Interview transcripts were analysed inductively in NVivo using the constant comparative method.28 29 This recognised method involves the systematic comparison and coding of data sources to identify common themes and develop a coherent explanatory framework grounded in empirical research.25 This approach is appropriate for generating an in-depth understanding of families’ illness experiences and is of particular use in exploratory studies. During the study the authors adopted a reflexive stance to take account of how their prior assumptions and experiences (a combination of clinical and non-clinical expertise) shaped all stages of the research process.30 A reflexive journal was maintained to record beliefs, actions and observations that may have influenced the interviews. The authors met regularly to discuss their interpretations and develop codes and categories. Presented quotations are illustrative of the key themes emerging from the data.
RESULTS Thirty-one parents and 21 children/adolescents from 23 families participated in the study. Their characteristics are presented in table 2.
Symptoms The onset of symptoms varied (table 2). Three children experienced acute onset of symptoms that prompted parents to seek immediate medical attention (15 years old). Thirteen (57%) children and adolescents received at least one alternative diagnoses in secondary care prior to a diagnosis of MS.
Questioning medical opinion Children/adolescents and parents were frustrated when GPs and paediatricians dismissed reported symptoms and did not appear to listen to their concerns. This frustration increased when the child’s symptoms did not improve but they were not referred for further investigation (5a). Children’s/adolescents’ accounts suggest they felt confused and uncertain during the prediagnosis period (5b) and parents often took the lead during medical encounters. They appeared less likely than parents to question medical opinion. When parents were dissatisfied with medical opinions they took purposeful action to access specialist services (5c) by paying for a private neurology consultation (n=1, 4%), presenting at accident and emergency (n=4, 17%), consulting a different GP/paediatrician (n=10, 43%) and requesting further investigations (n=6, 26%). 3
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Original article Table 2
Participant demographics and diagnosis summary
Participant demographics Mothers Fathers Girls Boys Median age of child/adolescent at time of interview Ethnic group White South Asian Healthcare provider† District general hospital Paediatric tertiary centre Adult tertiary MS centre Joint care (provided by paediatric and adult tertiary centre) Diagnosis summary Median age at onset of symptoms (years) Median age at diagnosis (years) Median time to diagnosis (months)‡ First presented to GP Optician Accident and emergency department Attended >1 primary care appointment before referral to secondary care Presenting signs and symptoms§ Problems with vision Problems with coordination and balance Persistent severe headaches Numbness/pins and needles Altered behaviour Persistent fatigue Persistent vomiting (>3 weeks) Paralysis on one side of the body Polysymptomatic presentation at initial onset of disease Diagnoses made prior to diagnosis of MS¶ CIS ADEM MDEM Stroke Brain tumour Viral infection Migraine Anaemia
20 (65%) 11 (35%) 15 (71%) 6 (29%)* 15 (range 8–17, mean 15, SD 2.36) 42 (81%) 10 (19%) 2 9 4 8
(9%) (39%) (17%) (35%)
13 (range 3–16, mean 10.6, SD 4.37) 14 (range 5–16, mean 12.1, SD 3.40) 12 (range 1–96, mean 23.3, SD 27.3) 14 (61%) 4 (17%) 5 (22%) 13 (93%)
9 9 6 6 3 3 2 1 15 (65%)
1 9 3 2 2 3 3 1
Example case studies** Prompt diagnosis: Male patient, 14 years old at onset, experienced dizziness and blurred vision for 2 weeks before presenting to optician. Emergency admission to local DGH and MRI scan performed the following day. Consultation with consultant paediatric neurologist at tertiary centre and diagnosis of onset of MS made within 1 month. Delayed diagnosis: Female patient, first presented to GP reporting numbness in feet and hands and difficulty with balance and coordination at 14 years old. Repeat attendance at GP surgery over a period of 6 months to report continuation of dysfunction. No referral to secondary care. After 6 months, reported symptoms ceased. The young person reported experiencing symptoms again 6 months later. Repeat attendance at GP surgery for a further 6 months to report difficulty with balance and coordination, vomiting, loss of appetite and episodic urinary incontinence. No referral to secondary care. Emergency admission to tertiary centre following
4
collapse at home. Diagnosed with MS during hospital stay. Approximate time from onset of symptoms to diagnosis of MS=18 months. *Two children/adolescents chose not to participate in the study but details of their diagnosis (as described by their parents) are included in the analysis. †At time of interview. ‡From the onset of symptoms as reported by children/adolescents and parents. §As reported by children/adolescents and parents. ¶Some patients received more than one diagnosis prior to MS diagnosis. **Anonymised accounts to illustrate variation in participants’ experiences of obtaining a diagnosis. ADEM, acute disseminated encephalomyelitis; CIS, clinically isolated syndrome; DGH, district general hospital; GP, general practitioner in primary care; MDEM, multiphasic disseminated encephalomyelitis; MS, multiple sclerosis.
Parents also reported disputes with clinicians during consultations (5d–e). Parents felt their lack of specialist medical knowledge made it difficult to articulate their concerns in a way that would legitimise their expert understanding of their child’s health (5d). Parents were also concerned that their opinions were based on internet-based information sources and personal experience, and not on credible scientific evidence that would be taken seriously by clinicians (5e). The ongoing uncertainty and the struggle to communicate their concerns to GPs and paediatricians caused parents additional distress (5f ).
Receiving a diagnosis of MS The time from the initial onset of the disease and the diagnosis of MS varied from 1 to 96 months (table 2). Parents’ accounts suggested some paediatric neurologists appeared reluctant to make a diagnosis of MS in childhood (6a–b). At the time of diagnosis parents and children/adolescents valued the opportunity to talk to knowledgeable and experienced clinicians who were sensitive to the information and emotional needs of families. An ability to explain the diagnosis using simple explanations was important, although families’ accounts of the delivery of the diagnosis varied. Some parents and adolescents reported feeling uncertain about the accuracy of the diagnosis due to conflicting medical opinion and labelling of the child’s condition during consultations with different doctors (6c–e). Parents’ accounts suggested this ongoing diagnostic uncertainty allowed them to remain hopeful that their child’s health would improve in the future (6f ).
DISCUSSION Summary This is the first study to explore paediatric MS from a family perspective and thus provides an original perspective on the prediagnosis period, identifying the facilitators and barriers to early diagnosis that have not previously been examined in the literature. Families’ accounts reveal considerable variation in the time between the onset of the disease and obtaining a diagnosis, which suggests that, like adults, children with MS are at risk of delayed diagnosis and therefore delayed treatment.20 21 Multiple factors appear to influence the speed of diagnosis. The non-specific symptoms of paediatric MS may be misinterpreted by families and doctors, leading to delayed presentation, investigations and specialist referrals. In general, there is a lack of awareness of paediatric MS among GPs and general paediatricians. As there are few clinicians in the UK (and indeed internationally) with expertise in paediatric MS, MRI findings may be reviewed by paediatricians without the appropriate knowledge to detect (multiple) demyelination episodes. Some paediatricians may also lack the confidence to make a diagnosis of MS Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Original article Table 3
Participant quotations
1. Interpretations of reported signs and symptoms 1a We thought, oh, it’s because of the stress of school work and everything, so we kind of just let it go. (Young Person 3) 1b I probably feel a bit guilty after the first, with her first (episode) when I was like there’s nothing wrong with her, look at her (she) needs an Oscar dragging that leg. A couple of days off school, it’s because her exams are coming up. (Parent 27) 1c When I first had it happen, I kept it to myself because I was with my Dad, he’s always been like, never be ill, get on with it, deal with it, just deal with it. So, I just dealt with it, I thought it would go away. (Young Person 19) 2. Seeking medical advice 2a I was saying, well maybe it’s just a spasm. I don’t want to go (to the doctors) they’ll call me a spastic. (Young Person 12) 2b (Son) wouldn’t go to the doctors, he was like no I’m fine, I’m fine, I’ve probably got something in (my eye). (Parent 29) 3. Communicating concerns to medical professionals 3a The doctor did say to me at the time it looks like he’s (falling over) on purpose. Luckily enough the doctor did carry on and think yeah we’re going to do something. And of course the eye thing (nystagmus) was a big factor, at least that was moving and they could see that. (Parent 18) 3b (The GP) kind of kept on brushing it under the carpet because she was like, oh, you’re a teenager, you’re going through puberty and hormones, it’s probably stress like being your age. (Young Person 10) 3c I kept taking him up to (the children’s hospital) to Dr Smith to say he’s not right, he’s not right, and he said he’s fine, (your son) is fine. You’re not, there is something wrong with you, you need to get a job, you’ve got to get a hobby. You’re focusing too much on (your son). (Parent 1) 3d I kept saying there’s something wrong and I kept getting on no I’m just fussing and he’s lazy, he just needs to knuckle down and concentrate better. (Parent 8) 3e (The GP) automatically assumed it was social issues; stressful parents. (Parent 4) 4. Medical interpretation of reported symptoms 4a The doctor who was there basically said there’s something not right but I don’t know what it is. And my response at that time was, have you found something on the MRI, yes or no? And he said I don’t know. (Parent 4) 4b We got an MRI scan done and they said that they’d had a look over it. This paediatric consultant looked over it and said that she couldn’t see anything out of the ordinary with it but I pushed again because I still felt there was something not right. (Parent 14) 5. Questioning medical opinion 5a (The GP) said that I have nothing wrong with me, I have no problem and I should go home and why do you keep coming to his clinic and telling him this because I’m 5b perfectly fine, just think that you’re fine. I said that’s what I do but I can’t it’s impossible now, I can’t walk, I can’t run. (Young Person 9) 5c I don’t really remember feeling anything (during the diagnosis), it all just happened. I didn’t really know what was going on. (Young Person 12) As a parent because we pushed we got so far because if I’d listened to the doctor and said this is what it is then I would not have got anywhere. (Parent 4) 5d It’s difficult, you can’t tell a consultant who’s gone through years of university about their job but I think you know yourself. You’re living with it, you’re seeing more than the 15 min test you’re sitting with them for, and I think you become more aware yourself if there’s something wrong. (Parent 14) 5e It was so frustrating because I’m not medically trained and yeah, okay, I’ve been on Google but I could clearly see that it was pointing to MS. (The consultant would say) 15% of people, even though they’ve had symptoms, don’t go onto to develop MS. I was like well what more do you want? That was the frustrating thing. Don’t Google it. Well tell me about it. But he hasn’t got it. (Parent 29) 5f I mean my family was believing the doctors that I was just a mad neurotic mother, everybody, I had no one on my side at all, not his dad, nobody, I just had to fight it myself. (Parent 1) 6. Receiving a diagnosis 6a I think (the consultant) at the children’s hospital—it’s been a year now (since the diagnosis of MS)—has just finally said all right, you’ve got MS. But it’s only because (another consultant) said yes here’s the report I’ve said he’s got MS. I think now he’s just finally said yeah all right then, fair enough. But he’s still asked for a second opinion on the adult section if he’s still got MS. (Parent 30) 6b We weren’t getting anywhere with the children’s hospital. Personally I feel that because she was 15 they didn’t want to dip their toe in the water and say this is what’s she’s got, even though they said it could be this or it could lead into MS. As soon as she turned 16 she saw the consultant at the local hospital and he said ‘we’ll you’ve got relapsing remitting MS’. (Parent 19) 6c In (the consultant’s) letters, she’ll say MDEM, some say, well, you’re MS, you know. So, you know, I don’t know what it is. (Parent 23) 6d They just explained to us what it was, what it could be, which was MS but they weren’t entirely sure because it was only one symptom and it’s only the scan because I hadn’t experienced any clinical symptoms. (Young Person 3) 6e What we’ve found over the last 10 years is the fact that some of these paediatric neurologists think it falls inside the spectrum (of MS), some feel it falls outside the spectrum (of MS). So we’ve never had, you know, a definite diagnosis because of the variation of thought with these consultations. (Parent 10) 6f And that’s why, you know, and this is why we’ve got to still sort of think there is a possibility this has burnt out in her … to look at her, to see her, you couldn’t say that there’s a problem of any kind, you know. (Parent 10) GP, general practitioner; MDEM, multiphasic disseminated encephalomyelitis.
in childhood, although the reasons for this are not currently known.
Implications for practice and research Reducing the time between the onset and diagnosis of paediatric MS is a priority.8 11 Diagnostic delays have adverse implications for the treatment, management and outcomes of paediatric MS.9 10 Obtaining a timely diagnosis appears to have psychological benefits for families,31 whereas continued uncertainty leads to additional distress and may have negative implications for parents’ and children’s/adolescents’ reactions to the eventual diagnosis.20 In addition to improving the precision of diagnostic criteria,5 the prompt investigation of reported symptoms is vital for the Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
early diagnosis and treatment of paediatric MS. Persistent nonspecific symptoms such as paresthaesia can indicate a need for investigation and should not be dismissed. It is important that clinicians take families’ concerns seriously, investigate symptoms thoroughly and arrange timely referrals for specialist care (box 1 provides additional guidance).32 This study suggests that currently families’ expertise is not always valued, leading to parents using a range of strategies to access specialist services. In view of the diagnostic challenges and the implications of delays, children/adolescents with MS would benefit from early referral to paediatric neurologists with expertise in the diagnosis and management of paediatric MS. However, it appears that this expertise is not available to all children/adolescents early in the disease course. A nationally coordinated multi-centre 5
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Original article Box 1 Key implications of the study for improving the early investigation and diagnosis of children/adolescents with MS ▸ Increase awareness of paediatric MS as a diagnostic possibility amongst general practitioners and general paediatricians − Access to checklists of the common signs and symptoms of a demyelination episode/paediatric MS may aid awareness and investigation. ▸ Recognise and value children’s/adolescents’ and parents’ knowledge and experience32 39 − Recognise that children/adolescents and parents are important sources of information about the child’s health and can make a vital contribution to the investigation of symptoms − Listen carefully to the health concerns of children and adolescents and parents’ worries about their child’s health − Gently encourage children/adolescents to describe their symptoms in detail − Support families to record symptoms and discuss their findings during consultations − Maintain an open dialogue during diagnostic work-up; families’ may offer new insights during the investigations ▸ Investigate reported symptoms with an open mind − Explore organic aetiology fully in cases of persistent non-specific and common symptoms before assuming a psychological cause − Perform a complete medical examination − Obtain a detailed medical history (of the child and family), noting reoccurring symptoms or repeat episodes of illness − Consider that seemingly unconnected symptoms may have a common/single cause − Organise a complete neurological examination where appropriate − Conduct careful clinical follow-up of symptoms and functional status − Re-examine for organic aetiology as appropriate ▸ Arrange timely referrals for additional investigations35 36 − Seek advice from experienced colleagues/specialists if uncertain of aetiology and/or clinical findings − When appropriate refer child to specialists in demyelination to interpret clinical findings accurately and make a diagnosis. ▸ Make appropriate preparations for delivering the diagnosis to families40 − When possible refer child/adolescent to a specialist with expertise in the diagnosis and management of paediatric MS − Assess if parents want children/adolescents to attend the meeting − Arrange a quiet, private room where there will no interruptions − Warn the family that difficult information will be discussed − Gauge how much information the family wishes to know − Remain sensitive to the reactions of children/adolescents and parents − Check repeatedly for children’s/adolescents’ and parents’ understanding − Provide clear verbal and written information about the condition − Provide information about voluntary organisations and support groups − Discuss emotional support and arrange referrals to counselling/psychological services − Provide contact details for follow-up and support, for example, specialist nurse − Arrange a follow-up consultation to discuss the diagnosis in further detail and answer parents’ and children’s/adolescents’ questions − Provide ongoing information and support as appropriate
paediatric demyelination service is needed to provide specialist care. A similar approach has been taken with other rare conditions in childhood as a means of providing high-quality clinical care and support through centres of excellence.33 34 However, early access to such centres is dependent on improved awareness of paediatric MS in generalist settings and prompt investigations. Finally, the findings highlight the limitations of the current healthcare system for managing rare disorders in childhood. A lack of awareness, clinical expertise and specialist services appears to increase the risk of diagnosis delay and suboptimal care for children/adolescents with rare conditions.35 36 An alternative approach is required that does not depend on parents’ persistence to access expertise on their child’s behalf.37 In particular, clinicians need to recognise that children/adolescents and parents are a valuable source of information about the child’s health and require appropriate specialist support during the often lengthy and challenging diagnostic process.32
Limitations Findings are based on the accounts of families recruited mainly from UK paediatric centres. The views of adolescents being 6
cared for in adult MS services are under-represented. It is not known if there are any differences between those families participating in the study and those who declined to participate. As this is a qualitative study it does not make claims for generalisability to the population of families with a child with MS, however the identified themes resonate with the findings of similar studies that have explored diagnostic delay in childhood, particularly the difficulties parents may encounter in making their voice heard.32 38 The sample was also diverse, providing a broad overview of UK diagnostic experiences and were recruited from centres across the UK. It has not been possible to corroborate families’ accounts with medical records, so timings are approximate. However, parents did refer to specific dates, personal diaries and hospital correspondence during interviews to verify their accounts.
CONCLUSION The diagnosis of MS in childhood is uncommon and a potentially lengthy and uncertain process. Recognised barriers to early identification of the disease include the absence of definitive tests and difficulties interpreting MRI findings. Parent’s and children’s/adolescents’ accounts suggest that delayed Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Original article presentation, misinterpretations of symptoms and/or clinical findings, poor awareness of paediatric MS, and the perceived reluctance of doctors to make this diagnosis in childhood are also potential barriers to early diagnosis. Listening to families’ concerns, approaching reported symptoms with an open mind, conducting a thorough medical examination (including full medical history) and organising timely referrals for further investigations are likely to improve early diagnosis of MS and consequently long-term outcomes. Acknowledgements The researchers would like to thank the young people and parents who took part in the study for sharing their views. We would also like to thank Dr Kathy Hawley and the study advisory group for their advice throughout the project and the clinicians at the NHS trusts, the MS Society, MS-UK, shift.MS and the UK Multiple Sclerosis Specialist Nurse Association for providing valuable help with recruitment. The researchers acknowledge the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network (UKCRN). Contributors SK designed and secured funding for the study. Kathy Hawley contributed to the development of the study proposal. Data collection was carried out by DH. Both authors contributed to data analysis and interpretation, and the writing, revision and final approval of the manuscript. Funding This work was supported by the Multiple Sclerosis Society in the UK, grant reference 958/11. Competing interests None. Ethics approval NHS National Research Ethics Service. Provenance and peer review Not commissioned; externally peer reviewed.
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38 39 40
MacAllister WS, Christodoulou C, Troxell R, et al. Fatigue and quality of life in pediatric multiple sclerosis. Mult Scler 2009;15:1502–8. Goretti B, Ghezzi A, Portaccio E, et al. Psychosocial issue in children and adolescents with multiple sclerosis. Neurol Sci 2010;31:467–70. Weisbrot D, Charvet L, Serafin D, et al. Psychiatric diagnoses and cognitive impairment in pediatric multiple sclerosis. Mult Scler 2014;20:588–93. Thrower BW. Clinically isolated syndromes: predicting and delaying multiple sclerosis. Neurology 2007;68:S12–15. Ketelslegers IA, Neuteboom RF, Boon M, et al. A comparison of MRI criteria for diagnosing pediatric ADEM and MS. Neurology 2010;74:1412–15. Tardieu M, Deiva K. Rare inflammatory diseases of the white matter and mimics of multiple sclerosis and related disorders. Neuropediatrics 2013;44(EFirst):302–8. Chabas D, Castillo-Trivino T, Mowry EM, et al. Vanishing MS T2-bright lesions before puberty: a distinct MRI phenotype? Neurology 2008;71:1090–3. Chitnis T. Disease-modifying therapy of pediatric multiple sclerosis. Neurotherapeutics 2013;10:89–96. Edwards RG, Barlow JH, Turner AP. Experiences of diagnosis and treatment among people with multiple sclerosis. J Eval Clin Pract 2008;14:460–4. Malcomson KS, Lowe-Strong AS, Dunwoody L. What can we learn from the personal insights of individuals living and coping with multiple sclerosis? Disabil Rehabil 2008;30:662–74. Isaksson AK, Ahlström G. From symptom to diagnosis: illness experiences of multiple sclerosis patients. J Neurosci Nurs 2006;38:229–37. Barker-Collo S, Cartwright C, Read J. Into the unknown: the experiences of individuals living with multiple sclerosis. J Neurosci Nurs 2006;38:435. Mattarozzi K, Vignatelli L, Baldin E, et al. Effect of the disclosure of MS diagnosis on anxiety, mood and quality of life of patients: a prospective study. Int J Clin Pract 2012;66:504–14. Charmaz K. Constructing grounded theory: a practical guide through qualitative analysis. London: Sage, 2006. Harden J, Scott S, Backett-Milburn K, et al. Can’t talk, won’t talk? Methodological issues in researching children. Sociol Res Online 2000;5. Punch S. Research with children: the same or different from research with adults? Childhood 2002;9:321–41. Glaser B, Strauss A. The discovery of grounded theory: strategies for qualitative research. New York: Aldine, 1967. Boeije H. A purposeful approach to the constant comparative method in the analysis of qualitative interviews. Qual Quant 2002;36:391–409. Malterud K. Qualitative research: standards, challenges, and guidelines. Lancet 2001;358:483–8. Lewis C, Skirton H, Jones R. Living without a diagnosis: the parental experience. Genet Test Mol Biomarkers 2010;14:807–15. Dixon-Woods M, Findlay M, Young B, et al. Parents’ accounts of obtaining a diagnosis of childhood cancer. Lancet 2001;357:670–4. Zurynski Y, Frith K, Leonard H, et al. Rare childhood diseases: how should we respond? Arch Dis Child 2008;93:1071–4. Rare Disease UK. Centres of excellence for rare diseases. London: Rare Disease UK, 2013. Foster H, Rapley T. Access to pediatric rheumatology care—a major challenge to improving outcome in juvenile idiopathic arthritis. J Rheumatol 2010;37:2199–202. Braun KPJ, Kappelle LJ, Kirkham FJ, et al. Diagnostic pitfalls in paediatric ischaemic stroke. Dev Med Child Neurol 2006;48:985–90. Ryan S, Salisbury H. ‘You know what boys are like’: pre-diagnosis experiences of parents of children with autism spectrum conditions. Br J Gen Pract 2012;62: e378–e83. Kharrazi M, Kharrazi LD. Delayed diagnosis of cystic fibrosis and the family perspective. J Pediatr 2005;147(3 Suppl):S21–5. Arksey H, Sloper P. Disputed diagnoses: the cases of RSI and childhood cancer. Soc Sci Med 1999;49:483–97. Skills Cascade. A framework for breaking bad news. Secondary A Framework for Breaking Bad News no date. http://www.skillscascade.com/badnews.htm
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Paediatric multiple sclerosis: a qualitative study of families' diagnosis experiences Denise Hinton and Susan Kirk Arch Dis Child published online December 31, 2014
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ADC Online First, published on December 31, 2014 as 10.1136/archdischild-2014-306523 Original article
Paediatric multiple sclerosis: a qualitative study of families’ diagnosis experiences Denise Hinton, Susan Kirk University of Manchester, School of Nursing, Midwifery and Social Work, Manchester, UK Correspondence to Dr Denise Hinton, School of Nursing, Midwifery and Social Work, University of Manchester, Jean McFarlane Building, Oxford Road, Manchester M13 9PL, UK; [email protected] Received 31 March 2014 Revised 9 September 2014 Accepted 8 December 2014
ABSTRACT Objective To examine children’s and parents’ experiences of obtaining a diagnosis of paediatric multiple sclerosis (MS) and identify potential facilitators and barriers to early diagnosis. Design Qualitative, semi-structured interviews conducted face-to-face in home settings with 31 parents and 21 children and adolescents (8–17 years old) with a clinical diagnosis of MS. Participants were recruited from 16 NHS Trusts and four MS voluntary organisations in the UK. Interviews were recorded and transcribed verbatim and analysed using the constant comparative method. Results Time to diagnosis ranged from 1 to 96 months (median 11.5, mean 23.3, SD 27.3). The findings suggest that delayed presentation to healthcare services, generalists’ assumptions about the nature of reported symptoms, lack of awareness of paediatric MS and delayed referral to specialists in paediatric MS were barriers to early investigation and accurate diagnosis. Children, adolescents and parents felt that their concerns about the child’s health were not always taken seriously during medical consultations and that clinicians could be reluctant to diagnose MS in childhood. This created additional uncertainty about the child’s condition and long-term prognosis. Conclusions Obtaining a diagnosis of paediatric MS can be a challenging and lengthy process with potentially adverse implications for the health of children/adolescents. Valuing families’ knowledge and experience of their child’s health, performing a thorough medical examination early in the disease course and organising prompt referrals may aid the early investigation and diagnosis of this disease. In view of the diagnostic challenges, children/adolescents with suspected MS would benefit from early referrals to specialists in paediatric MS.
INTRODUCTION
To cite: Hinton D, Kirk S. Arch Dis Child Published Online First: [ please include Day Month Year] doi:10.1136/archdischild2014-306523
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system (CNS) that typically presents in adults (20–50 years old) but is increasingly recognised in children.1 Retrospective studies estimate 3–10% of people with MS experience onset before the age of 18.2 3 In a recent UK study the minimum incidence of first onset acquired demyelination of the CNS in children aged 1–15 in the UK was 9.83 per million children per year (95% CI 8.18 to 11.71), of which 19 of 125 identified cases fulfilled diagnostic criteria for MS.4 An expanded version of the 2010 McDonald criteria has been developed for paediatric MS which requires evidence of two clinical episodes of CNS demyelination (excluding encephalopathy and other disorders).5 The signs and symptoms of a demyelination event are variable and polysymptomatic presentation is common in children.6 7 Prompt
What is already known on this topic ▸ The onset of multiple sclerosis (MS) in children is increasingly recognised. ▸ Diagnosing paediatric MS is challenging due to similarities with other monophasic childhood conditions and differences in the clinical presentation of children and adults with MS. ▸ Early diagnosis is important for commencement of disease-modifying treatment that has the potential to slow disease progression.
What this study adds ▸ This is the first study to examine in-depth the diagnostic process in paediatric MS and to identify potential barriers and facilitators to early diagnosis. ▸ Poor awareness of paediatric MS, limited recognition of families’ specialist knowledge, misinterpretation of non-specific symptoms and difficulty accessing specialist services are possible sources of delay. ▸ This study suggests that clinicians can aid early diagnosis by listening carefully to children/ adolescents and parents, fully investigating persistent non-specific symptoms and organising prompt referrals.
diagnosis is important for early treatment and appropriate management of the physical and psychosocial aspects of the disease.8 Commencement of immunomodulatory disease-modifying therapies (DMTs) early in the disease course has the potential to reduce the frequency and severity of relapses and slow disease progression.9–11 Diagnosis may also facilitate timely access to appropriate multidisciplinary support to address cognitive deficits and psychosocial issues common to paediatric MS.12–14 Brain MRI has been key to increasing recognition and certainty of MS in children.1 Nonetheless diagnosis in childhood is challenging because current MRI criteria cannot differentiate MS onset from acute disseminated encephalomyelitis and clinically isolated syndrome.15 16 Consequently a first attack of MS can be attributed to an isolated episode of demyelination.7 Accurate diagnosis is also challenged by variants of MS and other rare presentations of demyelination 17 and differences in the clinical presentation of prepubertal patients compared with adolescents.18 19
Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Original article No previous studies have explored the diagnosis of paediatric MS from the viewpoints of children and parents. Families’ experiences may offer new insights into the pre-diagnosis period and highlight families’ support needs. Studies that have explored diagnosis in adults highlight the potential for long delays 20 21 and associated distress,22 23 and suggest that early diagnosis improves adult patients’ quality of life and psychological wellbeing.24 This study aimed to examine children’s and parents’ experiences of the diagnostic process and families’ support needs pre and post diagnosis, identify potential barriers and facilitators to early diagnosis, and highlight the implications for professional practice and health service organisation and delivery.
METHODS Sampling and recruitment Participants were recruited via 16 NHS Trusts providing paediatric MS services and four voluntary organisations in the UK. All families meeting the study inclusion criteria (table 1) were
Table 1
approached by service providers and contacted the research team directly if they wished to participate.
Data collection Informed written consent/assent was obtained from participants prior to the interview. Qualitative semi-structured interviews were conducted with children/adolescents diagnosed with MS and their parents (by DH) in participants’ homes and were audio-recorded and transcribed verbatim. This approach allowed for focused questioning on specific topics with the flexibility to explore emerging themes.25 Questioning during early interviews was exploratory and focused on three key areas: pre diagnosis, diagnosis and post diagnosis. Questioning became more focused during later interviews to explore key themes emerging from the data. Families chose whether they were interviewed together or separately. Three adolescents chose to be interviewed separately. Interviews with younger children used ‘draw and write’ techniques to facilitate conversation (table 1).26 27 Participants were recruited over a 12-month period until thematic codes and
Methodology summary
Key information Inclusion criteria ▸ Children/adolescents aged 8–17 years old at time of interview with a clinical diagnosis of paediatric multiple sclerosis (MS) ▸ Parent, carer or legal guardian of a child aged 0–17 years old at time of interview with a clinical diagnosis of paediatric MS Exclusion criteria ▸ Young people/parents of a child aged ≥18 years old who had been diagnosed with MS in childhood (0–17 years old) ▸ Children and adolescents with demyelinating conditions other than MS (including CIS, ADEM, MDEM, NMO) ▸ Cases where MS was suspected but not clinically diagnosed were also excluded Study information Eligible families received information sheets for parents and age appropriate information sheets for children/adolescents that included: ▸ The aims and design of the study ▸ The inclusion criteria ▸ The risks and benefits of participation ▸ Information about non-participation and withdrawal ▸ Confidentiality ▸ The funding source ▸ The contact details of the researchers Interested families discussed the study in further detail with the researchers prior to giving informed consent Recruitment Number Eligible families invited to participate* 44 Families recruited to the study 23 (53%) Families that declined to participate† 21 (47%) Interview topic guide (examples of questions asked) ▸ Could you start by telling me about when (child) started experiencing symptoms? ▸ When (child) started experiencing the symptoms, what were you thinking at this time? ▸ Were other diagnoses made before the diagnosis of MS? ▸ When was the diagnosis of MS made? ▸ What information did the doctors give you when they made the diagnosis of MS? Draw and write techniques ▸ Worksheets consisting of simple diagrams and text boxes that are completed by the young person during the interview with the researcher. ▸ Worksheets focused on family structure; likes and dislikes; views of nurses and doctors; school, MS ▸ Shown to help children and young people express their thoughts and feelings during an interview28 29 ▸ May aid discussion of sensitive topics that may be difficult to verbalise28 29 Mean interview duration (min) 94 (range 60–180) Duration of data collection (months) 12 (Feb 2013–14) Data analysis procedure ▸ Data collection and analysis occurred concurrently ▸ Preliminary coding of text via line-by-line analysis and re-reading of transcript(s) ▸ Initial codes explored in subsequent interviews ▸ Early coding revisited, revised, regrouped to fit the data more closely ▸ Codes grouped into key categories and themes ▸ Relationship between codes and categories explored to further insight *Based on the number of eligible patients reported by service providers. †Reason for non-participation was not recorded. ADEM, acute disseminated encephalomyelitis; CIS, clinically isolated syndrome; MDEM, multiphasic disseminated encephalomyelitis; NMO, neuromyelitis optica.
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Original article categories were fully developed and no new categories could be identified from subsequent interviews. The study was approved by an NHS research ethics committee.
symptoms persisted for and their perceived severity. The decision to seek medical advice also depended on the young person’s willingness to discuss their symptoms (2a–b).
Data analysis
Communicating concerns to medical professionals
Interview transcripts were analysed inductively in NVivo using the constant comparative method.28 29 This recognised method involves the systematic comparison and coding of data sources to identify common themes and develop a coherent explanatory framework grounded in empirical research.25 This approach is appropriate for generating an in-depth understanding of families’ illness experiences and is of particular use in exploratory studies. During the study the authors adopted a reflexive stance to take account of how their prior assumptions and experiences (a combination of clinical and non-clinical expertise) shaped all stages of the research process.30 A reflexive journal was maintained to record beliefs, actions and observations that may have influenced the interviews. The authors met regularly to discuss their interpretations and develop codes and categories. Presented quotations are illustrative of the key themes emerging from the data.
RESULTS Thirty-one parents and 21 children/adolescents from 23 families participated in the study. Their characteristics are presented in table 2.
Symptoms The onset of symptoms varied (table 2). Three children experienced acute onset of symptoms that prompted parents to seek immediate medical attention (15 years old). Thirteen (57%) children and adolescents received at least one alternative diagnoses in secondary care prior to a diagnosis of MS.
Questioning medical opinion Children/adolescents and parents were frustrated when GPs and paediatricians dismissed reported symptoms and did not appear to listen to their concerns. This frustration increased when the child’s symptoms did not improve but they were not referred for further investigation (5a). Children’s/adolescents’ accounts suggest they felt confused and uncertain during the prediagnosis period (5b) and parents often took the lead during medical encounters. They appeared less likely than parents to question medical opinion. When parents were dissatisfied with medical opinions they took purposeful action to access specialist services (5c) by paying for a private neurology consultation (n=1, 4%), presenting at accident and emergency (n=4, 17%), consulting a different GP/paediatrician (n=10, 43%) and requesting further investigations (n=6, 26%). 3
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Original article Table 2
Participant demographics and diagnosis summary
Participant demographics Mothers Fathers Girls Boys Median age of child/adolescent at time of interview Ethnic group White South Asian Healthcare provider† District general hospital Paediatric tertiary centre Adult tertiary MS centre Joint care (provided by paediatric and adult tertiary centre) Diagnosis summary Median age at onset of symptoms (years) Median age at diagnosis (years) Median time to diagnosis (months)‡ First presented to GP Optician Accident and emergency department Attended >1 primary care appointment before referral to secondary care Presenting signs and symptoms§ Problems with vision Problems with coordination and balance Persistent severe headaches Numbness/pins and needles Altered behaviour Persistent fatigue Persistent vomiting (>3 weeks) Paralysis on one side of the body Polysymptomatic presentation at initial onset of disease Diagnoses made prior to diagnosis of MS¶ CIS ADEM MDEM Stroke Brain tumour Viral infection Migraine Anaemia
20 (65%) 11 (35%) 15 (71%) 6 (29%)* 15 (range 8–17, mean 15, SD 2.36) 42 (81%) 10 (19%) 2 9 4 8
(9%) (39%) (17%) (35%)
13 (range 3–16, mean 10.6, SD 4.37) 14 (range 5–16, mean 12.1, SD 3.40) 12 (range 1–96, mean 23.3, SD 27.3) 14 (61%) 4 (17%) 5 (22%) 13 (93%)
9 9 6 6 3 3 2 1 15 (65%)
1 9 3 2 2 3 3 1
Example case studies** Prompt diagnosis: Male patient, 14 years old at onset, experienced dizziness and blurred vision for 2 weeks before presenting to optician. Emergency admission to local DGH and MRI scan performed the following day. Consultation with consultant paediatric neurologist at tertiary centre and diagnosis of onset of MS made within 1 month. Delayed diagnosis: Female patient, first presented to GP reporting numbness in feet and hands and difficulty with balance and coordination at 14 years old. Repeat attendance at GP surgery over a period of 6 months to report continuation of dysfunction. No referral to secondary care. After 6 months, reported symptoms ceased. The young person reported experiencing symptoms again 6 months later. Repeat attendance at GP surgery for a further 6 months to report difficulty with balance and coordination, vomiting, loss of appetite and episodic urinary incontinence. No referral to secondary care. Emergency admission to tertiary centre following
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collapse at home. Diagnosed with MS during hospital stay. Approximate time from onset of symptoms to diagnosis of MS=18 months. *Two children/adolescents chose not to participate in the study but details of their diagnosis (as described by their parents) are included in the analysis. †At time of interview. ‡From the onset of symptoms as reported by children/adolescents and parents. §As reported by children/adolescents and parents. ¶Some patients received more than one diagnosis prior to MS diagnosis. **Anonymised accounts to illustrate variation in participants’ experiences of obtaining a diagnosis. ADEM, acute disseminated encephalomyelitis; CIS, clinically isolated syndrome; DGH, district general hospital; GP, general practitioner in primary care; MDEM, multiphasic disseminated encephalomyelitis; MS, multiple sclerosis.
Parents also reported disputes with clinicians during consultations (5d–e). Parents felt their lack of specialist medical knowledge made it difficult to articulate their concerns in a way that would legitimise their expert understanding of their child’s health (5d). Parents were also concerned that their opinions were based on internet-based information sources and personal experience, and not on credible scientific evidence that would be taken seriously by clinicians (5e). The ongoing uncertainty and the struggle to communicate their concerns to GPs and paediatricians caused parents additional distress (5f ).
Receiving a diagnosis of MS The time from the initial onset of the disease and the diagnosis of MS varied from 1 to 96 months (table 2). Parents’ accounts suggested some paediatric neurologists appeared reluctant to make a diagnosis of MS in childhood (6a–b). At the time of diagnosis parents and children/adolescents valued the opportunity to talk to knowledgeable and experienced clinicians who were sensitive to the information and emotional needs of families. An ability to explain the diagnosis using simple explanations was important, although families’ accounts of the delivery of the diagnosis varied. Some parents and adolescents reported feeling uncertain about the accuracy of the diagnosis due to conflicting medical opinion and labelling of the child’s condition during consultations with different doctors (6c–e). Parents’ accounts suggested this ongoing diagnostic uncertainty allowed them to remain hopeful that their child’s health would improve in the future (6f ).
DISCUSSION Summary This is the first study to explore paediatric MS from a family perspective and thus provides an original perspective on the prediagnosis period, identifying the facilitators and barriers to early diagnosis that have not previously been examined in the literature. Families’ accounts reveal considerable variation in the time between the onset of the disease and obtaining a diagnosis, which suggests that, like adults, children with MS are at risk of delayed diagnosis and therefore delayed treatment.20 21 Multiple factors appear to influence the speed of diagnosis. The non-specific symptoms of paediatric MS may be misinterpreted by families and doctors, leading to delayed presentation, investigations and specialist referrals. In general, there is a lack of awareness of paediatric MS among GPs and general paediatricians. As there are few clinicians in the UK (and indeed internationally) with expertise in paediatric MS, MRI findings may be reviewed by paediatricians without the appropriate knowledge to detect (multiple) demyelination episodes. Some paediatricians may also lack the confidence to make a diagnosis of MS Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Original article Table 3
Participant quotations
1. Interpretations of reported signs and symptoms 1a We thought, oh, it’s because of the stress of school work and everything, so we kind of just let it go. (Young Person 3) 1b I probably feel a bit guilty after the first, with her first (episode) when I was like there’s nothing wrong with her, look at her (she) needs an Oscar dragging that leg. A couple of days off school, it’s because her exams are coming up. (Parent 27) 1c When I first had it happen, I kept it to myself because I was with my Dad, he’s always been like, never be ill, get on with it, deal with it, just deal with it. So, I just dealt with it, I thought it would go away. (Young Person 19) 2. Seeking medical advice 2a I was saying, well maybe it’s just a spasm. I don’t want to go (to the doctors) they’ll call me a spastic. (Young Person 12) 2b (Son) wouldn’t go to the doctors, he was like no I’m fine, I’m fine, I’ve probably got something in (my eye). (Parent 29) 3. Communicating concerns to medical professionals 3a The doctor did say to me at the time it looks like he’s (falling over) on purpose. Luckily enough the doctor did carry on and think yeah we’re going to do something. And of course the eye thing (nystagmus) was a big factor, at least that was moving and they could see that. (Parent 18) 3b (The GP) kind of kept on brushing it under the carpet because she was like, oh, you’re a teenager, you’re going through puberty and hormones, it’s probably stress like being your age. (Young Person 10) 3c I kept taking him up to (the children’s hospital) to Dr Smith to say he’s not right, he’s not right, and he said he’s fine, (your son) is fine. You’re not, there is something wrong with you, you need to get a job, you’ve got to get a hobby. You’re focusing too much on (your son). (Parent 1) 3d I kept saying there’s something wrong and I kept getting on no I’m just fussing and he’s lazy, he just needs to knuckle down and concentrate better. (Parent 8) 3e (The GP) automatically assumed it was social issues; stressful parents. (Parent 4) 4. Medical interpretation of reported symptoms 4a The doctor who was there basically said there’s something not right but I don’t know what it is. And my response at that time was, have you found something on the MRI, yes or no? And he said I don’t know. (Parent 4) 4b We got an MRI scan done and they said that they’d had a look over it. This paediatric consultant looked over it and said that she couldn’t see anything out of the ordinary with it but I pushed again because I still felt there was something not right. (Parent 14) 5. Questioning medical opinion 5a (The GP) said that I have nothing wrong with me, I have no problem and I should go home and why do you keep coming to his clinic and telling him this because I’m 5b perfectly fine, just think that you’re fine. I said that’s what I do but I can’t it’s impossible now, I can’t walk, I can’t run. (Young Person 9) 5c I don’t really remember feeling anything (during the diagnosis), it all just happened. I didn’t really know what was going on. (Young Person 12) As a parent because we pushed we got so far because if I’d listened to the doctor and said this is what it is then I would not have got anywhere. (Parent 4) 5d It’s difficult, you can’t tell a consultant who’s gone through years of university about their job but I think you know yourself. You’re living with it, you’re seeing more than the 15 min test you’re sitting with them for, and I think you become more aware yourself if there’s something wrong. (Parent 14) 5e It was so frustrating because I’m not medically trained and yeah, okay, I’ve been on Google but I could clearly see that it was pointing to MS. (The consultant would say) 15% of people, even though they’ve had symptoms, don’t go onto to develop MS. I was like well what more do you want? That was the frustrating thing. Don’t Google it. Well tell me about it. But he hasn’t got it. (Parent 29) 5f I mean my family was believing the doctors that I was just a mad neurotic mother, everybody, I had no one on my side at all, not his dad, nobody, I just had to fight it myself. (Parent 1) 6. Receiving a diagnosis 6a I think (the consultant) at the children’s hospital—it’s been a year now (since the diagnosis of MS)—has just finally said all right, you’ve got MS. But it’s only because (another consultant) said yes here’s the report I’ve said he’s got MS. I think now he’s just finally said yeah all right then, fair enough. But he’s still asked for a second opinion on the adult section if he’s still got MS. (Parent 30) 6b We weren’t getting anywhere with the children’s hospital. Personally I feel that because she was 15 they didn’t want to dip their toe in the water and say this is what’s she’s got, even though they said it could be this or it could lead into MS. As soon as she turned 16 she saw the consultant at the local hospital and he said ‘we’ll you’ve got relapsing remitting MS’. (Parent 19) 6c In (the consultant’s) letters, she’ll say MDEM, some say, well, you’re MS, you know. So, you know, I don’t know what it is. (Parent 23) 6d They just explained to us what it was, what it could be, which was MS but they weren’t entirely sure because it was only one symptom and it’s only the scan because I hadn’t experienced any clinical symptoms. (Young Person 3) 6e What we’ve found over the last 10 years is the fact that some of these paediatric neurologists think it falls inside the spectrum (of MS), some feel it falls outside the spectrum (of MS). So we’ve never had, you know, a definite diagnosis because of the variation of thought with these consultations. (Parent 10) 6f And that’s why, you know, and this is why we’ve got to still sort of think there is a possibility this has burnt out in her … to look at her, to see her, you couldn’t say that there’s a problem of any kind, you know. (Parent 10) GP, general practitioner; MDEM, multiphasic disseminated encephalomyelitis.
in childhood, although the reasons for this are not currently known.
Implications for practice and research Reducing the time between the onset and diagnosis of paediatric MS is a priority.8 11 Diagnostic delays have adverse implications for the treatment, management and outcomes of paediatric MS.9 10 Obtaining a timely diagnosis appears to have psychological benefits for families,31 whereas continued uncertainty leads to additional distress and may have negative implications for parents’ and children’s/adolescents’ reactions to the eventual diagnosis.20 In addition to improving the precision of diagnostic criteria,5 the prompt investigation of reported symptoms is vital for the Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
early diagnosis and treatment of paediatric MS. Persistent nonspecific symptoms such as paresthaesia can indicate a need for investigation and should not be dismissed. It is important that clinicians take families’ concerns seriously, investigate symptoms thoroughly and arrange timely referrals for specialist care (box 1 provides additional guidance).32 This study suggests that currently families’ expertise is not always valued, leading to parents using a range of strategies to access specialist services. In view of the diagnostic challenges and the implications of delays, children/adolescents with MS would benefit from early referral to paediatric neurologists with expertise in the diagnosis and management of paediatric MS. However, it appears that this expertise is not available to all children/adolescents early in the disease course. A nationally coordinated multi-centre 5
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Original article Box 1 Key implications of the study for improving the early investigation and diagnosis of children/adolescents with MS ▸ Increase awareness of paediatric MS as a diagnostic possibility amongst general practitioners and general paediatricians − Access to checklists of the common signs and symptoms of a demyelination episode/paediatric MS may aid awareness and investigation. ▸ Recognise and value children’s/adolescents’ and parents’ knowledge and experience32 39 − Recognise that children/adolescents and parents are important sources of information about the child’s health and can make a vital contribution to the investigation of symptoms − Listen carefully to the health concerns of children and adolescents and parents’ worries about their child’s health − Gently encourage children/adolescents to describe their symptoms in detail − Support families to record symptoms and discuss their findings during consultations − Maintain an open dialogue during diagnostic work-up; families’ may offer new insights during the investigations ▸ Investigate reported symptoms with an open mind − Explore organic aetiology fully in cases of persistent non-specific and common symptoms before assuming a psychological cause − Perform a complete medical examination − Obtain a detailed medical history (of the child and family), noting reoccurring symptoms or repeat episodes of illness − Consider that seemingly unconnected symptoms may have a common/single cause − Organise a complete neurological examination where appropriate − Conduct careful clinical follow-up of symptoms and functional status − Re-examine for organic aetiology as appropriate ▸ Arrange timely referrals for additional investigations35 36 − Seek advice from experienced colleagues/specialists if uncertain of aetiology and/or clinical findings − When appropriate refer child to specialists in demyelination to interpret clinical findings accurately and make a diagnosis. ▸ Make appropriate preparations for delivering the diagnosis to families40 − When possible refer child/adolescent to a specialist with expertise in the diagnosis and management of paediatric MS − Assess if parents want children/adolescents to attend the meeting − Arrange a quiet, private room where there will no interruptions − Warn the family that difficult information will be discussed − Gauge how much information the family wishes to know − Remain sensitive to the reactions of children/adolescents and parents − Check repeatedly for children’s/adolescents’ and parents’ understanding − Provide clear verbal and written information about the condition − Provide information about voluntary organisations and support groups − Discuss emotional support and arrange referrals to counselling/psychological services − Provide contact details for follow-up and support, for example, specialist nurse − Arrange a follow-up consultation to discuss the diagnosis in further detail and answer parents’ and children’s/adolescents’ questions − Provide ongoing information and support as appropriate
paediatric demyelination service is needed to provide specialist care. A similar approach has been taken with other rare conditions in childhood as a means of providing high-quality clinical care and support through centres of excellence.33 34 However, early access to such centres is dependent on improved awareness of paediatric MS in generalist settings and prompt investigations. Finally, the findings highlight the limitations of the current healthcare system for managing rare disorders in childhood. A lack of awareness, clinical expertise and specialist services appears to increase the risk of diagnosis delay and suboptimal care for children/adolescents with rare conditions.35 36 An alternative approach is required that does not depend on parents’ persistence to access expertise on their child’s behalf.37 In particular, clinicians need to recognise that children/adolescents and parents are a valuable source of information about the child’s health and require appropriate specialist support during the often lengthy and challenging diagnostic process.32
Limitations Findings are based on the accounts of families recruited mainly from UK paediatric centres. The views of adolescents being 6
cared for in adult MS services are under-represented. It is not known if there are any differences between those families participating in the study and those who declined to participate. As this is a qualitative study it does not make claims for generalisability to the population of families with a child with MS, however the identified themes resonate with the findings of similar studies that have explored diagnostic delay in childhood, particularly the difficulties parents may encounter in making their voice heard.32 38 The sample was also diverse, providing a broad overview of UK diagnostic experiences and were recruited from centres across the UK. It has not been possible to corroborate families’ accounts with medical records, so timings are approximate. However, parents did refer to specific dates, personal diaries and hospital correspondence during interviews to verify their accounts.
CONCLUSION The diagnosis of MS in childhood is uncommon and a potentially lengthy and uncertain process. Recognised barriers to early identification of the disease include the absence of definitive tests and difficulties interpreting MRI findings. Parent’s and children’s/adolescents’ accounts suggest that delayed Hinton D, et al. Arch Dis Child 2014;0:1–7. doi:10.1136/archdischild-2014-306523
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Original article presentation, misinterpretations of symptoms and/or clinical findings, poor awareness of paediatric MS, and the perceived reluctance of doctors to make this diagnosis in childhood are also potential barriers to early diagnosis. Listening to families’ concerns, approaching reported symptoms with an open mind, conducting a thorough medical examination (including full medical history) and organising timely referrals for further investigations are likely to improve early diagnosis of MS and consequently long-term outcomes. Acknowledgements The researchers would like to thank the young people and parents who took part in the study for sharing their views. We would also like to thank Dr Kathy Hawley and the study advisory group for their advice throughout the project and the clinicians at the NHS trusts, the MS Society, MS-UK, shift.MS and the UK Multiple Sclerosis Specialist Nurse Association for providing valuable help with recruitment. The researchers acknowledge the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network (UKCRN). Contributors SK designed and secured funding for the study. Kathy Hawley contributed to the development of the study proposal. Data collection was carried out by DH. Both authors contributed to data analysis and interpretation, and the writing, revision and final approval of the manuscript. Funding This work was supported by the Multiple Sclerosis Society in the UK, grant reference 958/11. Competing interests None. Ethics approval NHS National Research Ethics Service. Provenance and peer review Not commissioned; externally peer reviewed.
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Paediatric multiple sclerosis: a qualitative study of families' diagnosis experiences Denise Hinton and Susan Kirk Arch Dis Child published online December 31, 2014
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