The Birmingham Screening Score for Silver-Russell Syndrome uses a number of criteria for selecting a patient for molecular testing. This can help to better allocate resources for better efficiency. The authors are from the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham.
Patient selection: possible Silver-Russell Syndrome
Outcome: molecular testing for H19 DMR methylation or maternal uniparental disomy of chromosome 7 = upd(7)mat
Parameters:
(1) z-score for birthweight
(2) z-score for postnatal growth based on height at 2 years of age
(3) relative macrocephaly, with comparison of z-score for head circumference (HC) to z score for height
(4) limb/body asymmetry
Parameter
Finding
Points
z-score for birthweight
>= -2.0
0
< -2.0
1
z-score for postnatal growth
>= - 2.0
0
< -2.0
1
relative macrocephaly
(z-score HC) - (z-score for height) <= 1.5
0
(z-score HC) - (z-score for height) > 1.5
1
limb/body asymmetry
absent
0
present
1
total score =
= SUM(points for all 4 parameters)
Interpretation:
• minimum score: 0
• maximum score: 4
• A score >= 3 identifies a patient who should be have molecular testing performed.
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