Transcript Undertaking rare disease research and surveillance

Undertaking rare disease research
and surveillance
Dr Chris Verity,
Consultant Paediatric Neurologist
#raredisease
Whooping
cough
vaccination
100
150,000
80
60
100,000
40
50,000
20
0
years
notifications
coverage
2005
2000
1995
1990
1985
1980
1975
1970
1965
1960
1955
1950
1945
0
vaccine coverage
200,000
1940
notifications of
pertussis
Pertussis notifications and
vaccine uptake 1940 - 2005
Pertussis immunisation and serious acute neurological
illness in children
D L Miller, E M Ross, R Alderslade, M H Bellman, N S B Rawson
BMJ 1981, 282, 1595-9
• 1000 cases notified to the National Childhood
Encephalopathy Study between 1976 and 1979.
Diagnoses included encephalitis/encephalopathy,
prolonged convulsions, infantile spasms, and Reye
syndrome.
• Conclusion: pertussis vaccine not the cause of “brain
damage”.
1986
The British Paediatric Surveillance Unit
The epidemiology of progressive intellectual
and neurological deterioration in childhood
Verity CM, Winstone AM, Stellitano L, Will R, Nicoll A
Arch Dis Child 2010;95:361-4
The PIND Study
A spectrum of
neurodegenerative diseases
Searching for a needle in a haystack
Progressive Intellectual and
Neurological Deterioration (PIND)
Case definition
Child 16 years or less at onset with:
• progressive deterioration > 3months
• loss of intellectual/developmental abilities
• abnormal neurological signs
Even if diagnosis already made
PIND Study – 3445 reported cases
May 1997 – July 2013
Outstanding,
115
Definite
diagnosis,
1475
No case,
1450
vCJD, 6
No
diagnosis,
168
Under
investigation, 231
Prion protein genotypes in the
population
MM, 37%
VV, 12%
MV, 51%
All confirmed vCJD cases: methionine homozygotes (MM)
Methionine/valine genotypes might have longer incubation
vCJD has not gone away
1976
National influenza immunisation programme
suspended following reports of Guillain-Barre
syndrome following swine ’flu vaccination
December 2009
British Paediatric Surveillance Unit Report Card
Nothing to Report 
Specify in box the number of cases seen
March 2010 [1003]
CODE No [
]
HIV & AIDS
Progressive Intellectual & Neurological Deterioration
Congenital Rubella
Severe Neonatal Hypernatraemia
Guillain-Barré syndrome / Fisher syndrome (UK Only)
CNS Inflammatory Demyelinating Disease
Gonorrhoea, Syphilis, Chlamydia, and Trichomonas infectious
Congenital Syphilis
Conclusions
DH England
Children: H1N1 vaccn recorded in 855,378
Our study (whole of UK): 112 GBS/3 FS cases
93/115 cases had preceding infections
2: H1N1 vaccination < 3m before GBS
3: seasonal ‘flu vaccination > 3m before
Outcome better than in studies of adults
Support the BPSU – cut down bureacracy
BPSU surveillance as seen from space