Table 1. Descriptive characteristics of the included studies.
Author | Year | Country of study | Case Number | Male | Deletion | mUPD | Age (y) M+SD (Range) | PWS diagnosis | Outcome |
---|---|---|---|---|---|---|---|---|---|
Sinnema et al. [24] | 2011 | Netherlands | 97 | NA | 53 | 44 | 36.2+12.4 (18-66) | MLPA | Psychiatry |
Mass et al. [25] | 2010 | Netherlands | 79 | 34 | 45 | 33 | 34.4+11.8 (18-65) | DNA methylation studies on the SNURF/SNRPN locus | Psychiatry |
Dykens et al. [11] | 2008 | USA | 88 | 43 | 55 | 33 | 22.41+11.74 (5-51) | FISH, methylation studies, or MLPA/MS-MLPA | Psychiatry, IQ |
Soni et al. [26] | 2008 | UK | 46 | 21 | 24 | 22 | 31.2+9.6 (12-51) | microsatellite analysis | Psychiatry, IQ |
Zarcone et al. [27] | 2007 | USA | 73 | 20 | 42 | 31 | 22.7+9.4 (10-40) | FISH and DNA microsatellite analysis | IQ |
Descheemaeker et al. [19] | 2006 | Belgium | 59 | 31 | 40 | 18 | 21.2 (2-51) | chromosome examination and DNA methylation | IQ |
Milner et al. [28] | 2005 | UK | 96 | 51 | 47 | 49 | 16.3+12.4 (3.3-50) | quantitative fluorescent PCR assay, microsatellite analysis | IQ |
Walley et al. [29] | 2005 | UK | 18 | 11 | 12 | 6 | 23.5+7.8 (16-49) | molecular genetic testing, no detail | IQ |
Bulter et al. [30] | 2004 | USA | 46 | 21 | 25 | 21 | 23+8.6 | FISH, methylation and microsatellite analysis | IQ |
Boer et al. [31] | 2002 | UK | 15 | 8 | 9 | 5 | 38.5+5.7 (29-47) | methylation pattern | Psychiatry, IQ |
FOX et al. [32] | 2001 | USA | 43 | NA | 24 | 19 | 23.3+8.7 | FISH, methylation and microsatellite analysis | IQ |
Roof et al. [21] | 2000 | USA | 38 | 16 | 24 | 14 | 22.2+9.1 (10-44) | high-resolution chromosome analysis, DNA microsatellite analysis | IQ |
Dykens et al. [33] | 1999 | USA | 46 | 18 | 23 | 23 | 17+9.42 (6-42) | molecular genetic testing, no detail | IQ |
Note: MLPA, multiplex ligation-dependent probe amplification; FISH, fluorescence in situ hybridization; NA: not available.