Table 2

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 systemsPercentage of patients scoring (≥4)Percentage of patients scoring (≥3)
Method 1 based on five criteria (n=29)21% 6/2948% 14/29
Method 2 based on six criteria (n=29)41% 12/2969% 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.