Appendix 1i: DATA ANALYSIS PLAN
Objective 1: Determine the incidence in the UK of confirmed diagnoses of …… in children, up to
and including age five years, and to report the distribution by age, sex and ethnic group
Objective 4: Evaluate performance of the newborn screening test for ….., including estimation of
confirmed cases as a proportion of referrals for confirmatory tests following screening results
suggestive of…..and of late diagnoses up to five years of age.
Measure
Definition of measure
Data items from questionnaire
Incidence of:
Numerators: Number of screen
Cases notified (Orange card): Unique
(1) screen positive
positive referrals; Number of
BPSU ID ( identifier)
referrals (Obj 1)
primary…..cases meeting case
Cases notified through laboratories:
(2) primary…..cases
definition, i.e. number of notified Unique Lab ID (identifier)
(Obj 4)
cases after exclusion of
Date of diagnosis
- Notification errors
Date of birth
- Correct age
Resident outside UK at time of
- Correct date of diagnosis screening: current postcode
- Non-UK residents
(neonates), country of screening
- Duplicates
Preterm (at screening): Gestation at
birth
Population denominators: midIdentifiers to match for duplicates:
year population up to age five
Date of birth, sex, ethnic group, NHS
years for incident diagnoses;
number (or equivalent), hospital/lab
birth statistics for birth
reference numbers
prevalence
Confirmed cases: cases presented to
Screening denominators: UK
Diagnostic Review Panel (DRP),
screening laboratories; UK
number of cases confirmed as
Newborn Screening Programme
meeting case definition by DRP
Characteristics of
cases
Sex
Ethnic group
Country of birth
Sex: male/female
Census 2001 Ethnic group
Country of birth
Objective 2: Report the clinical features at presentation and describe variation in referral and
clinical management processes, including initiation of replacement therapy.
Measure
Definition of measure
Data items from questionnaire
Clinical features at
Signs and symptoms of…..
Aged 6 months or less:
presentation
Poor feeding
Lethargy
Hypothermia
Other
Aged over 6 months:
Lethargy
Cold intolerance
Other
Growth
Height/length at diagnosis
Weight at diagnosis
Birth weight
Bone age (in older children only)
Objective 2 (continued): Report the clinical features at presentation and describe variation in
referral and clinical management processes, including initiation of replacement therapy.
Measure
Definition of measure
Data items from questionnaire
Contributing factors
Maternal and family factors
Maternal thyroid problems: thyroid
insufficiency/ goitre/ thyroid autoantibodies
Diagnostic testing
Variability of confirmatory testing Tests undertaken:
process
Serum TSH, free/total T4, free/total
T3; radio-isotope scans, ultrasound
scans: confirm diagnosis, severity and
possibly cause
Bone age X-ray: measure of effect on
growth (children > 6 months of age)
Thyroid auto-antibodies (if older child
& possible acquired hypothyroidism)
Referral processes
Management of presumed
positive newborn screening
result
Date screening result reported
Date parents contacted
Who contacted parents (for regional
variation in care pathways)
Management after clinical
Date first saw paediatrician
detection (not screening)
Date of confirmation of diagnosis
Referral to other specialists
Objective 2 (continued): Report the clinical features at presentation and describe variation in
referral and clinical management processes, including initiation of replacement therapy.
Measure
Definition of measure
Data items from questionnaire
Treatment
When treatment started in
Date treatment started
relation to diagnosis, screening
and age of child
Total daily dose (microgrammes per
kg per day)
Formulation and dose of
replacement therapy
Formulation of medication – clinical
variation likely as previously only
available as tablets, but recent
introduction of more expensive new
liquid preparation allows better dose
titration
Objective 3: Describe clinical outcomes at one year post-diagnosis, including the proportion of
infants who are recognised to have transient ……
Measure
Definition of measure
Data items from questionnaire
Effectiveness of
Date of test
treatment
Confirmation of
diagnosis
Any additional confirmatory tests
(e.g. if delayed or repeated)
Thyroid scans, bone age X-ray (if
repeated or not previously reported)
Clinical status when
last seen
…..-related health problems
Date last seen
Name of clinician responsible for child
Frequency of monitoring of …..
Co-morbidities
Growth
Replacement therapy
Need for hospital admission for
……/other illness
Additional health problems
Additional treatment other than
thyroxine
Height/weight (and date of
measurement)
Need for continuing therapy
Objective 3 (continued): Describe clinical outcomes at one year post-diagnosis, including the
proportion of infants who are recognised to have transient …...
Note: Questionnaires at one and two year follow-up are the same.
Measure
Definition of measure
Data items from questionnaire
Outcomes
Alive/dead
Vital status (alive/dead)
If died: date of death, cause, postmortem results
Living at home or not
Is child at home/in hospital/
elsewhere