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Joint Hypermobility Syndrome and the Impact on Quality of Life

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Joint Hypermobility Syndrome and the Impact on Quality of Life EXPLORING THE MULTI-FACTORIAL MANIFESTATIONS OF JOINT HYPERMOBILITY SYNDROME AND THE IMPACT ON QUALITY OF LIFE Carol Clark A thesis submitted in partial fulfillment of the requirements of Bournemouth University for the degree of Doctor of Philosophy [June, 2012] Bournemouth University COPYRIGHT STATEMENT This copy of the thesis has been supplied on condition that anyone who consults it is understood to recognise that its copyright rests with the author and due acknowledgement must always be made of the use of any material contained in, or derived from, this thesis. ii ABSTRACT Carol Clark Exploring the multi-factorial manifestations of Joint Hypermobility Syndrome and the impact on quality of life Introduction: Performing artistes have entertained audiences for thousands of years. Their repertoires require the integration of a well ‘tuned’ central nervous system and hypermobility. Hypermobility is a common phenomenon that is beneficial for some but not for others. This thesis discusses hypermobility associated with multisystemic symptoms referred to as Joint Hypermobility Syndrome (JHS). It is suggested that the multifactorial manifestations of the condition contribute to deconditioning thus impacting on the physical and mental well being of individuals with JHS. Purpose: To explore the multi-factorial manifestations of JHS including functional difficulties and their impact on quality of life. Methods: A two part study; part one, development of a questionnaire to assess for functional difficulties; part two, a mixed methods approach to explore aspects of JHS. Results: Principal Axis Factoring was employed to explore the structure of the 9-item Functional Difficulties Questionnaire (FDQ-9) to assess functional difficulties reported in childhood and adulthood. Internal consistency was high (0.81), correlations between items were > 0.5 and preliminary findings suggested satisfactory construct validity. Test-retest reliability was good (ICC 0.96 [95% CI 0.92 to 0.98]. Patients with JHS were 3 [95%CI 1.95 – 4.56] times more likely to report functional difficulties both as a child and as an adult than healthy volunteers. Patients with JHS were significantly more likely to report dislocations, autonomic nervous system, gastrointestinal and cardio-respiratory symptoms than healthy volunteers. Chronic widespread pain reported by 86% of patients with JHS was a significant predictor of quality of life using the SF-12. Patients with JHS had significantly lower physical component scores than healthy volunteers (29.2 [SD 10.6] and 54.5 [SD 5.7]) respectively. Conclusions The development of the FDQ-9 contributes to the understanding of the multi-factorial manifestations of JHS and their long term nature. These have important clinical implications as symptoms of JHS appear early in life. Management of this condition requires early recognition and an understanding of the multisystemic nature. iii ACKNOWLEDGEMENTS This project has evolved over many years and I wish to thank all those who helped and listened while I developed, designed, implemented and finally wrote up this thesis. This would not have been possible without the support of advisors, colleagues, friends, family, patients and the spouse education support provided by Royal Dutch Shell. I would like to acknowledge the following people: Professor Eloise Carr and Professor Alan Breen; my academic supervisors at Bournemouth University for their guidance, advice and patience. In particular I acknowledge their advice on the methodology and in the writing of this thesis. Their excellent communication throughout the process was especially appreciated. Dr. Lynda Foulder-Hughes; who contributed initially to the project. Professor Ahmed Khattab; who very kindly offered his expertise as a new first supervisor at the end of the project. I have been extremely grateful for all his support and guidance through this process. Thanks must also go to Professor Rodney Grahame. I was inspired by his work and was grateful that he encouraged me to undertake this study and took on the role of principal investigator during the data collection at the hypermobility clinic. Dr. Jane Simmonds who mentored me though the first study I undertook as a masters student. I have been very grateful for her tremendous enthusiasm, guidance and support over many years. I also acknowledge colleagues with whom I have enjoyed advice, discussion and debate; Jagoda Banovic, Dr. John Beavis, Caroline Belchamber, Dr. Judith Chapman, Elaine Dechow, Andrea Hasselbusch , Gwyn James, Dr. Hana Kazkaz, Rosemary Keer, Sue Merefield, Liz Schuster- Bruce, Dr. Zoe Sheppard, Kirsty Stanley, Dr. Sarah Thomas, Lou Woollard, Louise Worswick and members of the committee of the Hypermobility Syndrome Association (HMSA). Thanks to the patients, colleagues, staff, students and families who were involved in this project. In particular I would like to thank colleagues at Bournemouth University, Poole Hospital, Shell Damascus and patients at University College Hospital, London. I realise I am indebted to the many friends whose support and encouragement has been tremendous for so long. Thanks to my parents who always encouraged and supported my education and to my sister Jane Pares who volunteered to read my work. I also wish to thank my children Rob and Suzie for their encouragement and enthusiasm they have been a great team. However, the person who deserves the biggest thanks is my husband Mike who provided me with the opportunity to undertake this study and has been a calm and steadying influence throughout. iv Abbreviations ADC Adult Developmental Coordination Disorder/Dyspraxia Checklist ADHD Attention Deficit Hyperactivity Disorder ANS Autonomic Nervous System APA American Psychiatric Association AUC Area under a curve B Regression coefficient used to compute the regression equation BJHS Benign Joint Hypermobility Syndrome BOT-MP Bruininks-Osteretsky Test of Motor Proficiency BP Blood Pressure BS Beighton Score ChAS-PT Children Activity Scales CFS Chronic Fatigue Syndrome CI Confidence Interval COMPS Clinical Observations of Motor and Postural Skills CNS Central Nervous System CR Cardio-respiratory CRB Criminal Records Bureau DCD Developmental Coordination Disorder DCDQ Developmental Coordination Disorder Questionnaire Df Degrees of Freedom DIY Do-It-Yourself DSM-IV Diagnostic and Statistical Manual of Mental Disorders 4th version EDS Ehlers-Danlos Syndrome FDS Functional Difficulties Score FDQ-9 Functional Difficulties Questionnaire FGID Functional Gastrointestinal Disorders GI Gastrointestinal GP General Practitioner GPAQ Global Physical Activities Questionnaire GTO Golgi Tendon Organ JHS Joint Hypermobility Syndrome HDCTs Heritable disorders of connective tissues HMSA Hypermobility Syndrome Association HSE Health Survey for England HV Healthy Volunteers v IBS Irritable Bowel Syndrome ICC Intraclass Correlation Coefficient ICD-10 International Statistical Classification of Diseases and Related Health Problems 10th Version ICF International Classification of Functioning, Disability and Health KMO Kaiser-Meyer-Olkin LCS Leeds Consensus Statement M Mean MABC Movement Assessment Battery for Children MAND McCarron Assessment of Neuromuscular Development MCS Mental component Summary ME Myalgic Encephalopathy MFS Marfan Syndrome MMD Mixed Methods Design MSDs Musculoskeletal Disorders NHS National Health Service OI Osteogenesis Imperfecta PCS Physical Component Summary PIP Patient Information Pack POTS Postural Orthostatic Tachycardia Syndrome ROC Receiver Operating Characteristic S Sample SD Standard Deviation SE Standard Error SDDMF Specific Developmental Disorder of Motor Function SF-12 Medical Outcomes Questionnaire Short Form – 12 questions SF-36 Medical Outcomes Questionnaire Short Form – 36 questions SPSS-16 Statistical Package for Social Scientists version 16 TMP Test of Motor Proficiency UK United Kingdom VIF Variance Inflation Factor WHO World Health Organisation vi CONTENTS Chapter 1.......................................................................................................................................... 1 1 INTRODUCTION ...................................................................................................................... 1 1.1 Overview ..............................................................................................................................1 1.2 Movement and hypermobility ...............................................................................................1 1.3 Hypermobility syndrome .......................................................................................................2 1.4 The research journey and the evolution of the study ...........................................................5 1.5 Dyspraxia/Developmental Coordination Disorder (DCD) .....................................................7 1.6 Outline of the thesis .............................................................................................................8 Chapter 2........................................................................................................................................ 11 2 LITERATURE REVIEW .......................................................................................................... 11 2.1 Introduction ........................................................................................................................ 11 2.2 Background to the literature review..................................................................................
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