Transcript bpsux - British Association for Community Child Health

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 ?
• 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
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
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
British Paediatric Surveillance Unit Report Card
NOTHING TO REPORT
Specify in the box number of cases seen
Month Yr
CODE No [
]
AIDS/HIV
Congenital rubella
Progressive Intellectual & Neurological Deterioration
`
Non acc poisoning/Munchausen syndrome by proxy
Gender Identity Disorder
Early onset eating disorders
Conversion Disorder
ADHD Transition
Gonorrhoea, Syphilis,
Chlamydia and Trichomonas (1-13 years)
BACCH Conference
September 2006
BPSU – An Active Surveillance
Methodology
Alternate
Source
of Data
Researchers
80-95%
Surveillance
OFFICE
93%
Questionnaire
Clinicians
Surveillance - The Bigger Picture –
Early onset eating disorders
HES
Private
clinics
RCPsychs
OPTIMAL
SURVEILLANCE
BPSU
Investigator
Data
Clinician
Reporting
Orange
Cards
Follow-up
PATIENT
SUPPORT
GROUP
BPSU
Office
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
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
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
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
• Emerging Concerns
Progressive intellectual and neurological deterioration,
H1N1 vaccine monitoring, HUS (E.coli O157); Congenital Zika syndrome
• Injury Prevention
drowning, chemistry set poisoning, water births
Thank you daddy – that’s
yummy!
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
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
PIND Study – 3959 reported cases
March 1997 – Nov 2015
126
1754
1680
No case
Under investigation
No diagnosis
vCJD
Definite diagnosis
195
6
198
Outstanding
Diagnosed PIND cases Mar 1997 – Nov 2015
N = 1680, 193 different disorders, 5 commonest groups
G
an
gl
M
PS
s
io
si
d
os
es
Ls
NC
dr
ia
l
ch
on
M
ito
Le
uk
od
ys
tro
ph
ie
s
400
350
300
250
200
150
100
50
0
Early onset eating disorders
Study 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
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
505
cases reported
78
no data received
427
cases with data
124
reporting errors
303
met criteria
95
duplicates
208
confirmed cases
Twice the number of cases expected were reported
75% reported by psychiatrists and 25% by paediatricians – 16% overlap
Diagnostic presentations
BN
1% BED
3%
Other
19%
EDNOS
41%
AN
36%
Incidence by age
Incid
ence
per 1
0
0,000
12
10
8
6
4
2
0
6 to 7 7 to 8 8 to 9 9 to 10 10 to
11
11 to
12
Age
AN
BED
BN
EDNOS
Other
12 to
13
Co-morbid diagnoses
60
50
40
% 30
20
10
0
Depression
OCD
Anxiety
Depression, OCD and anxiety symptoms were equally distributed across
diagnoses
44% family history of psychiatric disorder
AN
EDNOS
Other
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
INoPSU
• The Scope
• >10,000 paediatricians
• >56 million children <15 years of age
• >200 studies completed
• Members
• 13 current units spread across the
globe – Canada to New Zealand
• Medical associations/Public Health
• >40 studies being facilitated
• Communicate via e-mail
• Bi-annual conférence
EOED - Results
Australia
Canada
UK
Sample size
101
161
208
Incidence
1.38/100,0000 2.6/100,000
3.03/100,000
Mean age
11.8 (+1.9)
11.3 (+1.5)
11.5(+ 1.3)
Females/Males
76/24(3:1)
138/22 (6:1)
171/37 (5:1)
Illness Duration
(wks)
25.3(+25.9)
27.7(+28.0)
34.5 (+ 29.7)
27
EOED - Results
Australia
Canada
UK
Depression
24% (24)
15.5% (25)
10.1% (21)
Anxiety
39% (39)
27.3% (44)
25.5% (53)
OCD
14% (14)
8.7% (14)
8.7% (18)
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
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?
Your study application
1) 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
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
Sir Peter Tizard Bursary
• For encouraging young clinicians in
training and newly qualified consultants
• Closing date TBC
• £13,500
• Contact BPSU office – [email protected]
Or visit www.rcpch.ac.uk/bpsu/bursary
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
The Importance of Surveillance
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.
THE END
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
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
Condition
Countries Undertaking
Surveillance
Infections
Hepatitis C virus
Aus, UK, Can
HIV/AIDS
Aus, UK, NZ, NL
Herpes simplex virus
Aus, UK, Can Switz
Group B streptococcus
Port, Can, UK, NL, Ger
Infection-related conditions
Haemolytic uraemic syndrome
Greece, NZ, Switz, Port, Can, UK, Aus, Latvia,
Ger
Progressive intellectual and neurological
deterioration
UK, Can
Vaccine-preventable diseases
Acute flaccid paralysis
Aus, Can, NL, NZ, Switz, UK
Congenital rubella
Aus, UK, NL, NZ, Switz, Can
Invasive Haemophilus Influenzea
Ger, Aus, UK, NL
Pertussis
Switz, Ger, NL, Aus
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
Responding to public health emergencies
Selected examples
•
variant Creutzfeldt Jakob disease (PIND study)
•
Reye’s syndrome
• Haemolytic uraemic syndrome – E.coli 0157
•
H1N1 – Guillan Barre/Fisher syndrome
•
Biliary Atresia
•
Congenital Zika syndrome
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