Table 1 Recent studies reporting a diagnostic yield for ES in heterogeneous pediatric patient populations
Study | Diagnostic yield (Solo) | N | Diagnostic yield (Trio) | N | % Pediatric | % DD/ID | Country | Team-based variant interpretation |
|---|---|---|---|---|---|---|---|---|
Yang et al.5 | 24.8% | 250 | 89% | 80% | USA | Yes | ||
Iglesias et al.2 | 32.2% | 115 | 79% | 25% | USA | No | ||
Lee et al.6 | 31.0% | 410 | 86% | 51% | USA | Yes | ||
Redin et al.3 | 24.5% | 106 | 83% (under 20 years old) | 100% | France | No | ||
Soden et al.7 | 39.0% | 100 | 100% | 52% | USA | No | ||
Srivastava et al.8 | 41.0% | 78 | 100% | N/A | USA | No | ||
Yang et al.1 | 25.2% | 2,000 | 88% | 93% | USA | Yes | ||
Farwell et al.9 | 20.6% | 68 | 37.3% | 220 | 84% | 64% | USA | No |
Valencia et al.10 | 30.0% | 40 | 100% | 48% | USA | Yes | ||
Monroe et al.11 | 29.4% | 17 | 100% | 100% | USA | No | ||
Nolan and Carlson 14 | 48.0% | 50 | 100% | N/A | USA | No | ||
Retterer et al.15 | 23.6% | 542 | 31.0% | 2,081 | >50% (median = 6.8 years) | 52% | USA | No |
Sawyer et al.12 | 23.0% | 207 | 100% | N/A | Canada | No | ||
Baldridge et al.16 | 36.1% | 155 | 95% | 76% | USA | No | ||
Evers et al.17 | 35.0% | 60 | 100% | 85% | Germany | No | ||
Stark et al.13 | 44.4%a | 27 | 100% | N/A | Australia | Yes | ||
Trujillano et al.4 | 30.7% | 1,000 | 82% (15 years or younger) | N/A | Multiple | No | ||
Vissers et al.18 | 25.6%a | 139 | 100% | 78% | The Netherlands | No | ||
Solo ES | Trio ES | |||||||
Average = | 26.6% | 34.4% | ||||||
Standard deviation = | 8.0% | 5.9% | ||||||
Beta distribution parameters (alpha, beta) | (7.8, 21.6) | (21.8, 41.6) |
