Table 1.
Clinical data for patients with an atypical deletion in the PWS region.
| Total | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | |
|---|---|---|---|---|---|---|---|---|---|
| Sex (male / female) | 6/2 | male | male | male | female | female | male | male | male |
| Age at diagnosis (weeks) | 42.0 (3.4; 103.0) | 200 | 29 | 55 | 2.6 | 94 | 3.3 | 3 | 106 |
| Neonatal characteristics | |||||||||
| Gestational age | 40.6 (38.2; 41.6) | 42 | 42 | 42 | 40 | 41 | 39 | 33 | 38 |
| Birth weight (grams) | 2645 (2430; 3145) | 2800 | 2430 | 3260 | 2430 | 2765 | 2525 | 2195 | 3266 |
| Birth weight SDS | −2.00 (−2.59; −0.18) | −2.31 | −3.19 | −1.15 | −2.69 | −1.91 | −2.08 | 0.28 | 0.14 |
| Birth length (cm) | 48 (46.5; 48.5) | 48 | unk | 49 | 47 | unk | 46 | unk | 48 |
| Birth length SDS | −1.70 (−1.94; −1.09) | −2.11 | unk | −1.48 | −1.78 | unk | −1.70 | unk | −0.69 |
| Hypotonia | 8 (100) | + | + | + | + | + | + | + | + |
| Tube feeding | 5 (62.5) | + | + | - | + | - | + | + | - |
| Duration of tube feeding (weeks) | 16.0 (6.0; 20.5) | 6 | 17 | NA | 6 | NA | 16 | 24 | NA |
| Cryptorchidism in males | 6 (100) | + | + | + | NA | NA | + | + | + |
| Characteristics at latest examination | |||||||||
| Age (years) | 12.0 (5.4; 24.1) | 30.3 | 24.8 | 22.0 | 12.1 | 11.9 | 9.1 | 4.2 | 4.0 |
| Height SDS | −0.81 (−1.87; 0.56) | −1.27 | −1.58 | −0.35 | −1.97 | 0.82 | −0.20 | 1.91 | −2.09 |
| BMI SDS | 1.44 (−0.40; 2.87) | −0.91 | −0.11 | 3.72 | 1.01 | 2.53 | 2.98 | 1.87 | −0.50 |
| Age at start GH treatment (years) | 2.5 (0.6; 7.9) | 14.9 | 7.9 | 3.6 | 0.7 | 2.5 | 0.6 | 0.6 | NA |
| Height SDS before start GH treatment | −2.42 (−3.05; −0.21) | −3.09 | −3.36 | −2.94 | −2.74 | 0.03 | −0.94 | 0.04 | −2.09 |
| Target height SDS | −0.24 (−0.99; 0.51) | 0.56 | −0.99 | −0.85 | 0.37 | 0.37 | −1.13 | 1.13 | −0.99 |
| (history of) Obesity | 4 (50.0) | + | - | + | - | + | + | - | - |
| (history of) Hyperphagia | 4 (50.0) | - | - | + | - | + | + | + | - |
| Dysmorphisms | 6 (75) | + | + | - | + | - | + | + | + |
| Hypothyroidism | 1 (12.5) | - | + | - | - | - | - | - | - |
| Behavioral problems | 3 (37.5) | - | + | - | + | + | - | - | - |
| Speech problems | 2 (25.0) | - | - | - | - | - | - | + | + |
| Scoliosis | 4 (50.0) | + | - | - | + | - | + | + | - |
| Skin-picking | 2 (25.0) | - | - | + | - | + | - | - | - |
| Developmental status | |||||||||
| IQ | 70.5 (65.5; 89.5) | 71 | 65 | 95 | 67 | 73 | 70 | 55 | 95 |
| VIQ | 81.5 (64.0; 94.5) | 70 | 62 | 95 | unk | unk | unk | 55 | 93 |
| PIQ | 86.0 (69.3; 99.8) | 73 | 68 | 99 | unk | unk | unk | 55 | 100 |
| Intellectual disability | 4 (50.0) | - | + | - | + | - | + | + | - |
| Social-emotional developmental delay | 6 (75.0) | + | + | - | + | - | + | + | - |
Data are expressed as median (IQR) or n (%); PWS = Prader-Willi Syndrome; SDS = Standard Deviation Score; unk = unknown; NA = not applicable; BMI = body mass index; GH = growth hormone; IQ = intelligence quotient; PIQ = performance IQ; VIQ = verbal IQ.