Table 2. Baseline characteristics and Gastrointestinal Symptom Rating Scale questionnaire findings of the 18 individuals with Silver-Russell syndrome.
| No/sex/ age |
Birth data | Clinical characteristics | Gastrointestinal Symptom Rating Scale questionnaire | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GA weeks+days |
BW SDS |
BL SDS |
BHCF SDS |
Epi- genetics | Enteral feeding | GH treatment | Weight SDS |
Height SDS |
BMI SDS |
≥ Moderate GI symptom* | Abdominal pain syndrome | Reflux syndrome | Constipation syndrome | Diarrhoea syndrome | Indigestion syndrome | ≥ Moderate GSRS domain | |
| 1/M/39 | 35+0 | −3.2 | −3.5 | 0.0 | 11p15.5 | N | Y | 3.1 | 0.5 | 3.0 | N | 1.3 | 1.0 | 2.0 | 1.3 | 1.5 | N |
| 2/F/24 | 36+3 | −4.2 | −5.1 | −1.0 | 11p15.5 | Y† | N | −3.2 | −3.0 | −2.9 | N | 2.0 | 1.0 | 1.3 | 1.0 | 1.9 | N |
| 3/M/28 | 39+0 | −3.9 | −4.7 | −1.5 | 11p15.5 | N | Y | −2.0 | −2.1 | 0.0 | N | 1.0 | 1.0 | 1.0 | 1.0 | 1.0 | N |
| 4/F/34 | 38+6 | −3.3 | −5.0 | 2.0 | 11p15.5 | N | Y | −4.8 | −2.5 | −4.5 | Y‡ | 3.0 | 1.0 | 2.7 | 6.7 | 5.0 | Y |
| 5/M/32 | 33+0 | −3.6 | −0.9 | −1.0 | 11p15.5 | Y | Y | −1.0 | −0.7 | −0.7 | Y‡ | 1.0 | 1.0 | 1.3 | 1.3 | 2.5 | N |
| 6/F/36 | 37+0 | −2.8 | −3.4 | −0.5 | Normal | N | Y | −0.5 | −2.4 | 1.0 | Y | 2.0 | 1.0 | 1.0 | 1.3 | 3.0 | N |
| 7/M/38 | 36+0 | −2.9 | −3.4 | 0.2 | 11p15.5 | Y | Y | 1.0 | 0.0 | 1.0 | N | 1.0 | 1.0 | 1.0 | 1.0 | 1.0 | N |
| 8/M/33 | 40+0 | −3.0 | −3.3 | −0.8 | mUPD7 | N | Y | −0.5 | −1.0 | 0.0 | Y‡ | 4.3 | 4.5 | 4.0 | 1.7 | 4.0 | Y |
| 9/M/34 | 41+0 | −2.1 | −2.6 | 0.0 | Normal | N | Y | 0.5 | −1.0 | 1.0 | Y | 1.3 | 1.0 | 2.0 | 2.3 | 1.6 | N |
| 10/F/22 | 28+2 | −3.6 | −5.1 | −1.0 | Normal | N | Y | 0.0 | −1.8 | 1.0 | Y‡ | 2.3 | 1.0 | 3.7 | 1.0 | 4.0 | Y |
| 11/M/25 | 32+3 | −4.7 | −6.8 | −1.8 | Normal | N | Y | 0.5 | −2.0 | 2.0 | Y‡ | 2.7 | 4.0 | 4.3 | 1.7 | 4.3 | Y |
| 12/M/29 | 39+0 | −4.0 | −4.1 | 0.5 | 11p15.5 | N | Y | 0.0 | −0.5 | 0.5 | N | 1.0 | 1.0 | 1.0 | 1.0 | 1.0 | N |
| 13/F/36 | 40+0 | −2.5 | −4.0 | 0.9 | 11p15.5 | N | Y | 2.8 | −0.8 | 3.5 | Y‡ | 3.0 | 4.5 | 4.7 | 2.7 | 4.1 | Y |
| 14/M/22 | 38+0 | −3.0 | −4.5 | 0.0 | 11p15.5 | Y† | Y | −3.2 | −3.9 | −1.0 | N | 1.0 | 1.0 | 1.3 | 1.0 | 1.0 | N |
| 15/M/21 | 25+6 | −3.3 | −6.5 | n/a§ | Normal | Y† | Y | 0.5 | −0.3 | 0.8 | Y | 3.0 | 4.0 | 2.3 | 1.0 | 1.0 | Y |
| 16/M/14 | 29+5 | −3.8 | −4.7 | −2.0 | 11p15.5 | N | Y | −3.1 | −1.0 | −1.8 | Y | 1.7 | 1.0 | 1.7 | 4.0 | 1.9 | Y |
| 17/F/15 | 36+2 | −2.0 | −1.8 | n/a§ | 11p15.5 | Y† | N | −2.0 | −1.3 | −2.0 | N | 1.0 | 1.5 | 1.0 | 1.0 | 1.0 | N |
| 18/M/16 | 32+6 | −4.4 | −4.1 | −2.0 | Normal | Y† | Y | −2.8 | 0.0 | −3.0 | Y | 1.3 | 1.5 | 2.3 | 1.3 | 2.5 | N |
*
A response of ≥4 GSRS score (at least moderate symptom severity) on one or more questions.
†
Individuals with percutaneous endoscopic gastrostomy.
‡
Individuals who completed the Rome IV Diagnostic Questionnaires.
§
Data missing from medical records.
BHCF, birth head circumference; BL, birth length; BMI, body mass index; BW, birth weight; F, female; GA, gestational age; GH, growth hormone; M, male; mUPD7, maternal uniparental disomy of chromosome 7; N, no; n/a, not available; SDS, SD score; Y, yes.