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Undertaking rare disease research and surveillance

Undertaking rare disease research and surveillance. Rl - talk 22-05-16. BPSU Mission. “the advancement of knowledge of uncommon childhood infections and other disorders through the participation of paediatricians in surveillance on a national and international basis”. Why do surveillance ?.

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Undertaking rare disease research and surveillance

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  1. Undertaking rare disease research and surveillance Rl- talk 22-05-16

  2. BPSU Mission “the advancement of knowledge of uncommon childhood infections and other disorders through the participation of paediatricians in surveillance on a national and international basis”

  3. Why do surveillance ? • To describe epidemiology • To describe presentations, treatment • To monitor public health interventions by monitoring trends • To produce evidence to support: • Further research • Improve clinical practice • Development of policy • Increase awareness

  4. Translation of research/surveillance More than just: • publishing a report or paper • presenting results at medical conferences To make a difference results need to reach: • Clinicians (changing practice) • Policy makers (public health and education) • Researchers outside of your own area • Advocacy groups • Community

  5. BPSU Goals • respond to public health emergencies • identify emerging disorders • develop uniform diagnostic criteria • improve diagnosis, management • dissemination of information • comparison national incidence • establish international cohorts • Public patient engagement

  6. ` AIDS/HIV Congenital rubella Progressive Intellectual & Neurological Deterioration Non acc poisoning/Munchausen syndrome by proxy Gender Identity Disorder Early onset eating disorders Conversion Disorder British Paediatric Surveillance Unit Report Card NOTHING TO REPORT Month Yr CODE No [ ] Specify in the box number of cases seen ADHD Transition Gonorrhoea, Syphilis, Chlamydia and Trichomonas (1-13 years)

  7. BPSU – An Active Surveillance Methodology Researchers Alternate Source of Data 80-95% Questionnaire Surveillance OFFICE 93% Clinicians

  8. Surveillance - The Bigger Picture – Early onset eating disorders HES BPSU RCPsychs Private clinics Investigator Data Clinician OPTIMAL SURVEILLANCE Follow-up PATIENT SUPPORT GROUP BPSU Office Orange Cards Reporting

  9. BPSU surveillance study objectives Disease burden • How common is the condition? • What is the severity at first presentation? Clinical features and initial management • What are the clinical features at presentation/diagnosis? • What are the initial investigations and care offered at presentation? Service configuration • What clinical services are offered? Short-term outcomes • What are the outcomes at initial discharge (including mortality)? • What are the outcomes at one year or two years after diagnosis? Collect evidence • Support new research, develop policy

  10. An amazing success storey – the evidence • 107 studies completed in 30 years • Central to surveillance of important conditions – HIV, congenital rubella • Over 300 peer review publications • 25,000+ cases reported • Responded to public health emergencies – vCJD, H1N1 • Informed screening and immunisation policy • Changed clinical practice • Service configuration • Allowed paediatricians to undertake research

  11. Imitation - UK • British Ophthalmology Surveillance Unit • British Paediatric Neurology Surveillance Unit • British Neurology Surveillance Unit • UK Obstetric Surveillance System • British Association of Paediatric Surgeons • British Paediatric Orphan Lung Disease Register • Welsh Paediatric Surveillance Unit • Irish Paediatric Surveillance Unit • Scottish Paediatric Surveillance Unit • Child and Adolescent Psychiatric Surveillance System

  12. Impact of BPSU – Public Health • Vaccine-Preventable Diseases Polio, rubella, HiB, pertussis, neonatal herpes, • Clinical Practice Guidelines/Health Planning Services HIV/AIDS, bilary atresia, Eating disorders, MCAD, vitamin d deficiency, vitamin k , severe neonatal hyperbilirubinaemia • EmergingConcerns Progressive intellectual and neurological deterioration, H1N1 vaccine monitoring, HUS (E.coli O157); Congenital Zika syndrome • Injury Prevention drowning, chemistry set poisoning, water births

  13. Thank you daddy – that’s yummy!

  14. Variant CJD – urgent response • Advent of new disorder – prion disease • Atypical presentation of progressive intellectual and neurological deterioration • BPSU surveillance of a range of similarly presenting disorders • Review of all cases by expert clinicians • Follow-up to determine cause

  15. Case Definition Example - PIND Any child under 16 years of age at onset of symptoms who fulfils all of the following: • progressive deterioration for more than three months with • loss of already attained intellectual/developmental abilities and • development of abnormal neurological signs

  16. PIND Study – 3959 reported casesMarch 1997 – Nov 2015

  17. Diagnosed PIND cases Mar 1997 – Nov 2015 N = 1680, 193 different disorders, 5 commonest groups

  18. Early onset eating disordersStudy aims Estimate the incidence of early onset eating disorder in children in the British Isles Describe the age, sex and family history Describe the range of clinical features at presentation including other psychiatric illness Describe the acute medical complications experienced by children with early onset eating disorders Describe the therapeutic interventions used in management Describe one year outcome

  19. Surveillance case definition Any child aged 5-12 years incl newly seen in the past month With TWO OR MORE OF THE FOLLOWING weight loss or failure to gain weight during a period of expected growth, not due to any identifiable organic cause determined food avoidance fear of weight gain preoccupation with body weight or energy intake self induced vomiting excessive exercising* recurrent episodes of binge eating or abuse of laxatives *Exercise was considered to be excessive when it significantly interfered with important activities, when it occurred at inappropriate times or in inappropriate settings, or when the individual continued to exercise despite injury or other medical complications

  20. Twice the number of cases expected were reported 75% reported by psychiatrists and 25% by paediatricians – 16% overlap

  21. Diagnostic presentations

  22. Incidence by age

  23. Co-morbid diagnoses Depression, OCD and anxiety symptoms were equally distributed across diagnoses 44% family history of psychiatric disorder

  24. One year outcome 73% showed an improvement 6% showed a deterioration No deaths 60% still treated; 30% not 10% NK Mean Wt gain 7kg (0.2 – 25) BMI mean up 2 Only 5% not attending education in some form

  25. INoPSU • The Scope • >10,000 paediatricians • >56 million children<15 years of age • >200 studiescompleted • Members • 13 currentunitsspreadacross the globe – Canada to New Zealand • Medicalassociations/Public Health • >40 studiesbeingfacilitated • Communicate via e-mail • Bi-annual conférence

  26. EOED - Results

  27. EOED - Results

  28. Applying to the BPSU factors that favour acceptance • Rarity - incidence < 300 cases/yr • Is the research question, an important clinical and/or public health question?Is it achievable • Clear and usable case definition

  29. Applying to the BPSU factors that favour acceptance • Absence of UK data • Likely to improve knowledge on the condition and impact on public health • Does the condition present to a range of clinicians so that surveillance through the BPSU is better than through specialists? • Is an alternative reporting source necessary? • Is the data easily accessible from notes? • Do you have the resources - funding, admin • support, time?

  30. Your study application • Research Objectives • Estimate incidence; describe clinical features at presentation; patterns of professional involvement; management; outcome- not risk factors • 2) Case definition • Appropriate description that identifies condition; not ambiguous i.e. include other unrelated conditions. Defining a condition by a measurement can cause confusion; use international recognised definitions

  31. Problematic areas • high incidence conditions • very low incidence conditions • retrospective reporting • need for rapid reporting • complex case definitions • too much information being sought • cases diagnosed but not reported

  32. Sir Peter Tizard Bursary • For encouraging young clinicians in training and newly qualified consultants • Closing date TBC • £13,500 • Contact BPSU office – bpsu@rcpch.ac.uk • Or visit www.rcpch.ac.uk/bpsu/bursary

  33. Conclusion • BPSU has informed new public health policy and • clinical practice • It provides a blueprint for development of new networks • Globally Paediatric Surveillance Units have responded to emerging infectious disease threats • BPSU has the potential to prospectively identify children with rare diseases to support future research and establishment of cohorts and registries • Dissemination of information worldwide – through its website

  34. The Importance of Surveillance

  35. Thank You • The work the BPSU has facilitated over the past 30 years could not have been undertaken without the enthusiastic support of the members of the Royal College of Paediatrics and Child Health. • On behalf of our investigators we would like to thank you all.

  36. THE END

  37. Surveillance: clinical vs epidemiological Epidemiological surveillance of populations: • … systematic measurement of health & environmental parameters … • … comparison and interpretation of data in order to detect possible changes in health and environmental status of populations World Health Organization 1973

  38. Surveillance: clinical vs epidemiological Clinical practice involves the surveillance of individual patients: • … close observation to detect early signs of disease … • ... making systematic observations and taking appropriate action when indicated AD Langmuir, NEJM 1963,268;182-91

  39. Reye’s syndrome • Warnings about the effects of aspirin in children issued in June 1986 • Followed by a dramatic decline in the incidence of Reye's syndrome • Concern in US that this was reduced reporting and not a true decline However • BPSU study of Reye’s Syndrome: 1996-1999 • Only 17 cases reported • Active surveillance with follow-up

  40. Responding to public health emergencies Selected examples • variant CreutzfeldtJakob disease (PIND study) • Reye’s syndrome • Haemolytic uraemic syndrome – E.coli 0157 • H1N1 – GuillanBarre/Fisher syndrome • Biliary Atresia • Congenital Zika syndrome

  41. Health events amenable to surveillance • Infectious diseases - e.g. notifiable • Congenital anomalies – e.g. BINOCAR, NCARDRS • Event / disorder specific registers - e.g. birth, death, cancer • Sentinel health events – e.g. screening, occupational health • Adverse drug reactions - MHRA

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