undertaking rare disease research and surveillance dr chris verity, consultant paediatric...

21
Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Upload: gillian-jordan

Post on 18-Jan-2016

213 views

Category:

Documents


0 download

TRANSCRIPT

Page 1: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Undertaking rare disease research and surveillance

Dr Chris Verity, Consultant Paediatric Neurologist

#raredisease

Page 2: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Whooping cough

vaccination

Page 3: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Pertussis notifications and vaccine uptake 1940 - 2005

0

50,000

100,000

150,000

200,00019

40

1945

1950

1955

1960

1965

1970

1975

1980

1985

1990

1995

2000

2005

years

noti

fica

tion

s of

pe

rtus

sis

0

20

40

60

80

100

vacc

ine

cove

rage

notifications coverage

Page 4: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Pertussis immunisation and serious acute neurologicalillness 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”.

Page 5: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

1986

The British Paediatric Surveillance Unit

Page 6: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease
Page 7: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

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 StudyA spectrum of

neurodegenerative diseases

Page 8: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Searching for a needle in a haystack

Page 9: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

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

Page 10: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

PIND Study – 3445 reported casesMay 1997 – July 2013

No case, 1450

Under investigat-ion, 231

No diagnosis,

168

vCJD, 6

Definite diagnosis,

1475

Out-standing,

115

Page 11: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease
Page 12: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Prion protein genotypes in the population

VV, 12%

MV, 51%

MM, 37%

All confirmed vCJD cases: methionine homozygotes (MM)

Methionine/valine genotypes might have longer incubation

Page 13: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

vCJD has not gone away

Page 14: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease
Page 15: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease
Page 16: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

1976

National influenza immunisation programme suspended following reports of Guillain-Barre

syndrome following swine ’flu vaccination

Page 17: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

December 2009

Page 18: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

British Paediatric Surveillance Unit Report Card

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

March 2010 [1003]

CODE No [ ]Nothing to Report Specify in box the number of cases seen

Page 19: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

ConclusionsDH 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

Page 20: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

Support the BPSU – cut down bureacracy

Page 21: Undertaking rare disease research and surveillance Dr Chris Verity, Consultant Paediatric Neurologist #raredisease

BPSU surveillance as seen from space