Table 1.
Participant demographics and growth at the time of the study examination (unless indicated otherwise) of the STAARS UK cohort of 33 people with Silver-Russell syndrome
| A) Data shown by genotype | ||
| Phenotype | Genotype H19/IGF2 LOM |
Genotype matUPD7 |
| Number of patients (n, %) | 27 (67.5) | 6 (15.0) |
| Gender | ||
| Male (n, %) | 12 (44.4) | 3 (50) |
| Female (n, %) | 15 (55.6) | 3 (50) |
| Age, years (median, IQR) | 32.35 (13.32–69.71) | 19.74 (14.47–33.93) |
| Birth parameters (median, IQR), (n) | ||
| Gestation at birth, weeks | 39 (37.0–40.6) (n=25) | 38.0 (35.1–38.1) |
| Birth weight, g | 1760 (1458–2098) | 1805 (1505–2513) |
| Birth weight SDS | −3.54 (−4.20 to −2.64) (n=26) | −2.19 (−2.98 to −1.29) |
| Birth length, cm | 40.6 (39.9–47.3) (n=10) | 43.0 (n=1) |
| Birth length SDS | −4.06 (−5.26 to −0.55) (n=9) | −3.05 (n=1) |
| Birth head circumference, cm | 33.8 (32.0–35.4) (n=8) | 27.0 (n=1) |
| Birth head circumference SDS | −0.56 (−1.33 to 0.29) (n=8) | −0.79 (n=1) |
| Growth parameters at examination (median, IQR, n=33) | ||
| Height, cm | 153.0 (143.5–160.9) | 156.8 (145.7–160.7) |
| Height SDS | −3.13 (−3.87 to −1.02) | −2.19 (−3.03 to −1.32) |
| Weight, kg | 45.65 (38.90–62.30) | 52.05 (45.38–56.81) |
| Weight SDS | −1.83 (−4.66 to −0.11) | −1.47 (−2.17 to −0.14) |
| BMI, kg/m2 | 19.7 (17.5–28.0) | 22.9 (17.6–25.0) |
| BMI SDS | −0.80 (−1.99 to 1.49) | 0.07 (−1.34 to 1.08) |
| Growth hormone treatment | ||
| Yes (n, %) | 17 (63.0) | 6 (100) |
| No (n, %) | 10 37.0) | 0 |
| B) Growth characteristics shown based on age; adolescents aged <18 years and adults ≥18 years | ||||
| STAARS UK cohort | Individuals <18 years | Individuals ≥18 years | P value | |
| n | 33 | 8 | 25 | |
| Gender | ||||
| Male | 15 (45.5) | 3 (37.5) | 12 (48.0) | 0.7 |
| Female | 18 (54.5) | 5 (62.5) | 13 (52.0) | |
| Age, years | 29.58 (13.32–69.71) | 14.15 (13.32–16.52) | 32.88 (22.03–69.71) | |
| Molecular genetic diagnosis | ||||
| H19/IGF2 LOM | 27 (71.8) | 5 (62.5) | 22 (88.0) | 0.1 |
| matUPD7 | 6 (18.2) | 3 (37.5) | 3 (12.0) | |
| Growth parameters | ||||
| Height SDS | −2.67 (−2.83 to −1.07) | −1.19 (−3.82 to −0.51) | −3.13 (−3.83 to −1.31) | 0.1 |
| Height in females, cm | 146.2 (140.3 to 154.1) (n=18) | 153.0 (130.9 to 154.2) (n=5) | 144.7 (140.7 to 153.6) (n=13) | |
| Height in males, cm | 159.4 (153.2 to 168.1) (n=15) | 164.0 (median only as n=3) | 158.1 (151.0 to 170.5) (n=12) | |
| Weight, kg | 47.10 (41.65–58.38) | 43.83 (31.68–48.26) | 55.45 (43.85–63.42) | 0.08 |
| Weight SDS | −1.72 (−3.76 to −0.13) | −1.21 (−4.14 to −0.19) | −1.83 (−3.76 to −0.11) | 0.95 |
| BMI, kg/m2 | 20.5 (17.7–25.5) | 17.0 (16.2–19.1) | 21.2 (19.1–38.0) | 0.003 |
| BMI SDS | −0.53 (−1.83 to 1.13) | −1.33 (−1.84 to −0.58) | −0.47 (−1.83 to 1.53) | 0.3 |
| Growth hormone treatment | ||||
| Yes | 23 (69.7) | 8 (100) | 15 (60.0) | 0.07 |
| No | 10 (30.3) | 0 (0) | 10 (40.0) | |
Growth parameters presented as median and IQR, n is the number of participants included where data are incomplete.
BMI, body mass index; LOM, loss of methylation; matUPD7, maternal uniparental disomy of chromosome 7; SDS, SD score; STAARS, Study of Adults and Adolescents with Russell Silver syndrome.