Results of the clinical assessment of particular phenotypes in adulthood to create two novel scoring systems method
| Molecularly confirmed patients with SRS assessed using two new adult scoring systems | Percentage of patients scoring (≥4) | Percentage of patients scoring (≥3) |
| Method 1 based on five criteria (n=29) | 21% 6/29 | 48% 14/29 |
| Method 2 based on six criteria (n=29) | 41% 12/29 | 69% 20/29 |
Method 1 assessed i) adult height ≤ −2 SDS, ii) relative adult macrocephaly (head circumference SDS ≥1.5 length SDS, iii) protruding forehead in adulthood, iv) body asymmetry in adulthood and v) feeding difficulties and/or low BMI (BMI ≤ −2 SDS) in adulthood.
Method 2 used historical data from medical notes and parental questionnaires available in the majority of adults in addition to examination and assessed i) birth weight and/or length ≤ −2 SDS, ii) history of childhood feeding difficulties/low BMI, iii) adult height ≤ −2 SDS, iv) relative adult macrocephaly (head circumference SDS ≥1.5 length SDS), v) protruding forehead in adulthood, vi) body asymmetry in adulthood.
BMI, body mass index; SDS, SD score; SRS, Silver-Russell syndrome.