Todd, Maureen Ann (2015) Study of the prevalence of musculoskeletal abnormalities, particularly arthritis, in children with Down’s syndrome in the Glasgow population. MSc(R) thesis. http://theses.gla.ac.uk/6225/ Copyright and moral rights for this thesis are retained by the author A copy can be downloaded for personal non-commercial research or study, without prior permission or charge This thesis cannot be reproduced or quoted extensively from without first obtaining permission in writing from the Author The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the Author When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given. Glasgow Theses Service http://theses.gla.ac.uk/ [email protected] STUDY OF THE PREVALENCE OF MUSCULOSKELETAL ABNORMALITIES, PARTICULARLY ARTHRITIS, IN CHILDREN WITH DOWN’S SYNDROME IN THE GLASGOW POPULATION MAUREEN ANN TODD THESIS SUBMITTED TO UNIVERSITY OF GLASGOW FOR THE DEGREE OF MASTER OF SCIENCE BY RESEARCH MATRICULATION NUMBER 1010891 2 Frontispiece: Picture of young girl with Down’s syndrome taken by John Langdon Down in the 1800s showing marked arthritic changes in her hands (picture quality poor as old photo) (www.intellectualdisability.info) 3 ABSTRACT Down’s syndrome (DS) is associated with multiple musculoskeletal (MSK) features, including hypermobility and inflammatory arthritis. MSK disorders are not included in the screening programme for these children and correct diagnosis of MSK problems can be missed or delayed. This study aimed to identify and examine the population of children with DS resident in Greater Glasgow to determine the frequency of musculoskeletal disorders and the levels of associated physical disability, particularly hypermobility, podiatric disorders, arthritis and obesity levels. Between Jan 2011-2012 147 children with DS, aged between two and sixteen years and resident in Greater Glasgow and Clyde Health Board by postcode were identified from the Glasgow Thyroid and community paediatricians’ register. They were invited to a single study visit encompassing musculoskeletal and podiatric examinations, anthropometric measurements and completion of study questionnaires. Focus groups were carried out to establish knowledge of MSK disorders in professionals likely to encounter this population. Seventy three children participated in the study. A high level of hypermobility was identified, characterized by predominance in the weight bearing joints of the lower limbs, especially hips (77%), ankles (56%) and feet (59%). Standard measures of hypermobility failed to identify the extent and severity of hypermobility in these children, identifying only 15% of children as having hypermobility syndrome. No new cases of arthritis were identified in the study cohort. Families reported a lack of expression of pain. Ten percent of the cohort were obese, compared to 20% in the UK cohort from which DS growth charts are derived. Focus groups identified concerns from professionals about knowledge and skills in identifying musculoskeletal problems in these children, and challenges in ascribing an appropriate diagnosis. This study identified barriers to care for a range of MSK pathologies in DS which targeted education and disease specific structuring of services could address. Rheumatologists found that expectations for MSK functioning in this population were low. Education focusing on the recognition and accurate assessment of altered or deteriorating MSK function is required. Severe and extensive hypermobility combined with altered expression of pain were found in this population, adding diagnostic challenges. Current MSK examination tools for hypermobility and hypotonia did not perform well in this population. Current health screening structures, the education and expectations of those providing health screening were identified as further barriers to MSK diagnosis. Facilitating early and accurate MSK diagnosis through the development of MSK examination tools, targeted education and structuring services for this population are important for the MSK and broader health of these children. 4 TABLE OF CONTENTS ABSTRACT 3 CHAPTER 1 INTRODUCTION 17 CHAPTER 2 LITERATURE REVIEW 20 2.1: Literature Search Method 20 2.2: Historical Perspective – Classification of Down’s syndrome and John Langdon Down 21 2.3 Down’s syndrome – 26 2.3.1 Signs and symptoms 27 2.3.2 Health problems 27 2.3.2.1 Coronary defects 27 2.3.2.2 Thyroid disorders 27 2.3.2.3 Sensory problems 28 2.3.2.4 Gastrointestinal problems 28 2.3.2.5 Leukaemia 28 2.3.3 Prognosis and life expectancy 28 2.4: Recognised associated disorders in Down’s syndrome 29 2.5: Musculoskeletal disorders in DS – 2.5.1: Arthritis in Down’s syndrome 31 2.5.1.1Psoriatic arthritis 34 2.5.2: Atlanto-axial instability 35 2.5.3: Hypermobility 37 2.6: Hypotonia 38 2.7: Other orthopaedic and musculoskeletal disorders 41 2.8 Pain response in DS 42 2.9: Growth retardation 43 2.10: Podiatric disorders and gait 44 2.11 General care and screening 46 2.12 MSK screening in DS 48 2.13 Summary 48 5 CHAPTER 3 MATERIALS AND METHODOLOGY 50 3.1 Ethics - 3.1.1 Autonomy 51 3.1.2 Beneficence and non-maleficence 51 3.1.3 Justice 51 3.1.4 Informed consent 52 3.1.5 Ethics in research involving children 52 3.2 Subject identification and recruitment 55 3.3 Inclusion criteria 55 3.4 Exclusion criteria 55 3.5 Study visit examinations - 55 3.5.1 MSK examination 56 3.5.2 Arthritis 56 3.5.3Hypermobility 57 3.5.4 Enthesitis 58 3.5.5 Podiatric examination 59 3.5.6 Psoriasis and psoriatic arthritis 62 3.5.7 Spine 62 3.5.8 Anthropometric measurements 63 3.5.9 Hypotonia 64 3.5.10 General 64 3.6 Validity of measurements and limitations 65 CHAPTER 4 FOCUS GROUPS 66 4.1 Introduction 66 4.2 Case Study 67 4.3 Methods 71 4.4 Parents - 4.4.1 Inclusion criteria 72 4.4.2 Exclusion criteria 72 4.4.3 Questions 72 4.4.4 Results 72 4.5 Paediatric Rheumatology Specialists - 4.5.1 Inclusion criteria 72 4.5.2 Exclusion criteria 73 4.5.3 Questions 73 4.5.4 Results 74 6 4.6 Community Paediatricians - 4.6.1 Inclusion criteria 75 4.6.2 Exclusion criteria 75 4.6.3 Questions 75 4.6.4 Results 76 4.7 Discussion 77 4.8 Limitations and clinical implications 79 CHAPTER 5 HYPERMOBILITY RESULTS 81 5.1 Introduction 81 5.2 Methods 82 5.3 Results – 5.3.1 Joint examination 83 5.3.2 Beighton scores 88 5.3.3 Brighton scores 94 5.3.4 Hypotonia 94 5.3.5 Anecdotal data 94 5.4 Discussion 97 CHAPTER 6 MUSCULOSKELETAL RESULTS 100 6.1 Introduction 100 6.2 Methods 101 6.3 Results - 6.3.1 Joint exam 102 6.3.2 Referral 102 6.3.3 Pain response 102 6.3.4 Anthropometric results 103 6.3.5 CHAQ results 103 6.3.6 Schober’s test results 103 6.4 Discussion 108 CHAPTER 7 PODIATRY RESULTS 111 7.1 Introduction 111 7.2 Methods 111 7.3 Podiatric examination 112 7.4 Results - 7.4.1 Footwear 113 7 7.4.2 Orthotic usage 113 7.4.3 Foot type 113 7.4.4 Foot posture 113 ` 7.4.5 Metatarsal formula 113 7.4.6 Leg length discrepancy 121 7.4.7 Nail features and pathologies 121 7.4.8 Skin pathologies 121 7.5 Discussion 124 CHAPTER 8 DISCUSSION 128 8.1 Study limitations 136 8.2 Recommendations and future work 137 8.3 Summary and Clinical Implications 138 REFERENCES 140 APPENDICES 159 8 LIST OF PICTURES Frontispiece: Picture of girl with DS taken by John Langdon Down 2 (www.intellectualdisability.info) Picture 2.1: John Langdon Down 21 (www.langdondowncentre.org.uk) Picture 2.2: Normansfield Theatre 24 (www.langdondowncentre.org.uk) Picture 2.3: Advert for Normansfield (www. langdondonwncentre.org.uk) 25 Picture 2.4: Picture of girls with DS taken by John Langdon Down 30 (www.intellectualdisability.info) Picture 2.5: Picture of girls with DS taken by John Langdon Down 30 (www.intellectualdisability.info) Picture 2.6: Picture of girl’s hands showing arthritic changes 32 Picture 2.7: Hypotonia in a newborn displaying head lag on pull to sitting and inability to support posture in neutral suspension (Lott, 2012) 40 Picture 4.1: Swelling and deformity shown in front of knees in DS child with delayed diagnosis of arthritis 69 Picture 4.2: Swelling and deformity shown in back of knees in DS child with delayed diagnosis of arthritis 69 Picture 4.3: Wrist deformity and swelling in hands shown in DS child with delayed diagnosis of arthritis 70 Picture 5.1: Picture of study participant showing hypermobile hips 99 Picture 7.1: Picture showing sub-talar pronation with hypermobility 120 Picture 7.2: Down’s foot showing wide gap between first and second metacarpal joints (http://newborns.stanford.edu/PhotoGallery/Downs4.html) 127 9 LIST OF TABLES Table 5.1: The distribution of hypermobility in lower limbs of this DS study cohort 85 Table 5.2: The distribution of hypermobility in upper limbs of this DS study cohort 86 Table 5.3: The distribution of hypermobility in small joints and the neck joint in this DS study cohort: MTPs; metetarsals: MCPs; metacarpals: PIPs; proximal interphalangeal joints 87 Table 5.4: The distribution of Beighton scores in the study cohort of DS children (n=73) 89 Table 5.5: The comparison of Beighton scores from the DS study cohort with Beighton scores from Clinch et al (2011) 90 Table 5.6: The comparison of Beighton scores between the sexes in Beighton scores <4 and <6 in the DS study cohort and Clinch et al (2011) cohort 91 Table 5.7: Table showing Beighton scores for 13-16 year olds within the DS study cohort 92 Table 5.8: The distribution of Brighton major scores criteria in this DS study cohort 95 Table 5.9: The distribution of Brighton minor criteria in this DS study cohort 95 Table 5.10: Table showing distribution of CMAS scores within the study cohort 96 Table 6.1: Table showing limited joints found on examination: ST; subtalar: TN; talonavicular: MCP; metacarpal joints: PIPs, proximal interphalangeal joints: MTP; metatarsal joints 104 Table 6.2: Table showing the mean group comparisons against the Down’s normative data (Styles et al, 2002) 105 Table 6.3: Table showing the mean group comparisons against the UK90 data 106 Table 6.4: Table showing the number of children with weight results outwith normal values 107 Table 7.1: Table showing the difference between foot size and shoe size 114 Table 7.2: Table showing types of footwear worn 116